IGDRPT (Indian Genetic Disease Risk Prediction Tool)

Disease Name: Gilbert Syndrome

1 .Inheritance

Autosomal Dominant

2. Gene Name

UGT1A1

3. Protein Name

UDP-glucuronosyltransferase 1-1

4. Chromosomal Location

2q37.1

5. Protein Sequence

>sp|P22309|UD11_HUMAN UDP-glucuronosyltransferase 1A1 OS=Homo sapiens OX=9606 GN=UGT1A1 PE=1 SV=1

MAVESQGGRPLVLGLLLCVLGPVVSHAGKILLIPVDGSHWLSMLGAIQQLQQRGHEIVVL

APDASLYIRDGAFYTLKTYPVPFQREDVKESFVSLGHNVFENDSFLQRVIKTYKKIKKDS

AMLLSGCSHLLHNKELMASLAESSFDVMLTDPFLPCSPIVAQYLSLPTVFFLHALPCSLE

FEATQCPNPFSYVPRPLSSHSDHMTFLQRVKNMLIAFSQNFLCDVVYSPYATLASEFLQR

EVTVQDLLSSASVWLFRSDFVKDYPRPIMPNMVFVGGINCLHQNPLSQEFEAYINASGEH

GIVVFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDL

LGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKRMETKGAGVTLNVLEMTS

EDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHD

LTWYQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKAHKSKTH

6. Gene Sequence

>NG_033238.1 Homo sapiens UDP glucuronosyltransferase family 1 member A1 (UGT1A1), RefSeqGene (LRG_733) on chromosome 2

GGACTGCCAAAGAGCCTGCGGGGCACTGGCACAGCGAGCGGCAAGGCTGCCAGCACCCGCGCACAGGTCA

GAGGCTTGGCGACCTGGGCCGCCTGGAGGGCCGCCCCTTATGACGCAGCCACATCTCATTGGCCGAGGCC

TGTGAGCGCCTCGCATCCCAAGATGCAGTGCTCCTGGGACTGGCCCTGCTCTCTGTGAGGCTCTGTGAGG

CCCTGTGATGCTCCAAGACCAGGCCCCGCCCACTCCGGCCTCCAACCAGCCATGGTCTCCAAAAAGGATG

GGAAAAAGAGGTTGGGGAAAAGAGAGGGCCTTGACTTTGGCTGCCTGAAGAACTGTTTTTCTTAAAGTAG

GCTTTATATCAGTCTTTTTCCTCGGCCACAGGAGGGAAGAGGGTGGTGGGAGTGAGTTTAGTCTGACCGG

GGCTGAAGACATCCTGTTGTTTAGGACTGCGGTTCTCCAACGTTCCAGCCCCGGTGCCCATTTGCTTTTG

TTCATCTGGATTATGCCTATCATATGTACTGCATTAGAGATTAAAACAGAATTAAAAAGACATATTCATT

GGGCAATTTAAGAAGAATAAACCCATGACACACTAACAAACCTTTTTATGTAACTTTTTTTGAGACAAAA

TGTAGTGAGAAGAGTGGCATCGTTTTACAGTTTTTGCATCTCTCTCTTTAGTACTTGGCTCTATAGAGAG

GTGGATTCTCATGTCAGCTTCTGCATTCTATCTATTGTGATATTACACATCCCCCATGTAGCTTCTGGAA

AACTCCACTGTACACTTGTGGGAGAATGACAATGAGAAAATCAAGTAACATTATTACGGAAATAGTTTTG

ACTTTGTAAAATTCTCCTGAAAAATTACTGGGGATCCCTAGGATTTCCTGGCTCATACTTTGAGAATCGC

TAGTCTAGCAGAGTAGTCCCTGGTATTCTGAAGGGATTAGTTTAGGACAACCCTCCTTCCCCATACCAAA

ATCTAGATGCTCAAGCTCCTTTTATAAAATGACACAGTATTTGTATATAACCTACCCATATCCTCCTTTA

AACCTCTAGTCATCTCTTGATTACTTTTACCTAATAAATGTAAATGCTATGTAAATAGTTGTTTTACAGT

ATTGGTTTTTTATTTGTATTATTTGTACTGTTTTTTTTTCATTGTTGTTCCCCCCAAATATTTTCAATCT

GCTGTTGGCTGAATCTGCAGATGTGAAGCCCAAGTATATGGAGGGTCAAATGTGCATGTTATTCACTTTT

CTTGACTGCTAAAACAACCAGGGAGATCCTCTCAGACAAAAGGAAATACAGCACTATTTACTGTATCGAA

ACCATTAAGACTTGCAGGCCGTGTGTATAGCACTGGGGATAAACATGGGATGCAGTGATTATTTCCGCTA

GAACTGCTATATAATGACGATGAATTTTGGGGGGACTTTTTTTGAGATCTGAGTTCTCTTCACCTCCTCC

TTATTCTCTTTTTGACACTGGATTCTTTGCTTTGATAAATTGTGGGGCAATACACTAGTAAAGGTCACTC

AATTCCAAGGGGAAAATGATTAACCAAAGAACATTCTAACGGTTCATAAAGGGTATTAGGTGTAATGAGG

ATGTGTTATCTCACCAGAACAAACTTCTGAGTTTATATAACCTCTAGTTACATAACCTGAAACCCGGACT

TGGCACTTGGTAAGCACGCAATGAACAGTCATAGTAAGCTGGCCAAGGGTAGAGTTCAGTTTGAACAAAG

CAATTTGAGAACATCAAAGGAAGTTTGGGGAACAGCAAGGGATCCAGAATGGCTAGAGGGTAAGAGGCAG

AGGGAGGGGGCAAGCAGAAGGGCTAGAGAGGAGGAATGAGCTTGGACAGGTGGGCTGGGGTCTATCCCAG

AGTTTTGAGAGCAAGGCAGAGGACTCTGAATTTTCTGTGCCCAGGAAGCTGCTGACCAAGGTTCCAGAAG

TGGTGGTGAGGTGGGGTTATTCAGGTGGCAGCCGATGCAATGATTCAGAAGGGACAGCTGGGGGTTGGGG

GACAGGGGGGCTGGGGCCCTGAAATGGGACCATGACAGCTGGGTCTGAGAGACAGTGGTAGAAACATCCA

GATTCAGCACTTACTTGCTGGCTTGGATGCAGGGTCTAGAACGAAAAGAGAAGAAAAGTCACTTCTATAC

AGAAACATGTCCAGAGCGCTTACTGTCTCCAAAACCATGGACTGGCACCTGAGTGATAGCATGATTCCAA

AGCCAAAATCTTGCCTGTAAGGAATATATATATATATATATATATATATGTATATATGATATAGCTATAG

TCTAATAGCAAGGACAGATATGCAAACTGCTAAAAGATACAAGGCAGAACAGAACAAAATGCTGTTTTTC

TGGGATTTTGGAAATTCAAGGAATTCAAGGGATTCAAGGAAGGTGGCTTTGCTTCCCGGGAGGGTCCTGT

AGATGATCTACAGGGCACTGGACATGTTTATGTTGCTCCTTTAGTAATAAGCCTGTCATTCTGATTTGAT

GAAAGGAGATGAAAGGAGCTGGTAGTGTGTCTGATGGTGGCCTACTAACTTATGTCTTCAGCTTAAAAAG

AAAGTAGCTTCAAAAGGGTTCCAGAAACACTTTCCATGGACGTGTCACTCTTTAGCAGCCCCCAAAGCAA

GACCATCATATTGCTGCCCTGCTGTGTGATTTCTCAGCCCCTAGAGCACCATCCCCTGTAATTGCCTGGT

CATGAGTTTGTCTCTGTCTACCTGACCCCTCCTTTCAGGCAAGGACCATTTCTAACTTGACTTTCTGGGC

CTAGTTCCTAGCATAGTGACTGCCATCCAGTAGGGCTCACACGTTCCATAAATATTTGGCAGATGAGGGA

ATTAGCAATGGGTTCTGCTTTGGTTTCAGAGCAGATATTAATTGGATTGCTTAGTAGTGGTTCTCTGTTG

TAATTCATGAGCATGAATGTGGATTGCCCACTATTCAGATTAGTAAGTATTTCTTGGTCAAGGGCAGAGC

TGTGGCCACAAACCATCCAGGTACACAGCAGAAGCAGCCTCAAAAAGCTTGGAAGCTCTGCATGATGCAG

GAAAGTCATAAAATCATTACAGTGGTGACTTATGTGTTTATAGCCCCTTTACTGTCTATAATCTGCAAAT

GAACTCACACAGCATTGGGACTTTGGAAGAATTATCACCCTTAAGGTTTAAATTAAACTGTGAATTTCAG

AATTTCTAATAAGGACACAACAAAGAGTGAAAGCATTGCTATGTCTATTCTGCTTGCCCAGAATCTTGGT

CCTAAAAAATGAAGAGTGTTTGGGTGTGGGGAGGAGCTTCAGTGTGCATGTGCATGCAAAGTACCTACTC

TAAGGAGAAGAATGAGAGGGTACCCTAATTACCTGTTAATATGTCCCATAGGACACCAAAACTCTAGTTA

GCTGTTTCTCTATGATCCTCTAAGCACATCCCCAAGTATGGCTGGCCAGTGATGTGTATGGTTCAAATGT

TGGGATCTGTGCAGTTATCTTGGAATTGTATAGTACAGCAGTATATCCCCCCCAAAAAGAGTGTAATACT

TCCAATTCTGGCTGCACAATACTTGCCCCATAGTCCATGGTCAATAAATACAAATTTGAGTTGTTTTTGC

TCATCTTTCCCTTTTGACTTCAAATCAGTCATCAGAATTTCCCCAAATGCCTTTCCCCTGGATCTTGGGC

CAGTGGAATGAGTACAATTTAACTTAATTGAATTTGCTTATCTATTTGGTTTCCTGTTGTGAACAAAAGT

TCTCTGAAAAGGAATTTGGAAGAAAGAGACTTTGTTCTAGTGAACAGTTTGCAAACCAGGGAGTTACAGC

CTCTGGTACGCAATGAAGGTGAGTTCCACAGAACACAAGGCAGGCAGGTTTCACGGCAAAAAGTTCCTTC

CCAGGTTCCCAATCAGGTCCATTTATGCAAATGAAGGATGGAAACTTGCTTAGTTCTTATTGGTCACTGC

AGCTGCATTCTGATTGGTTGATGAAGCTGAGCCCTGAGTGGCTGAGGTGGGTGAGCTTTAATTGGTTGGT

TCAGGTGAGCGCTGAAAATCTCAACTATAAAAAGGTACAGGTTTTCAGGATACTCAGAGTAACCGTGTGA

CCTGTAGTAAGCAAAGGGCCAGTTGGCTCTATTTTAAATCCAGGCCCAGTTAGCCACTCAAGATCTATCT

TACAGGACTGGCTCTTTCAGGTTCACACTAATAAAGGCCTGTCCTTGGGGAAGACTTCTGTTCACATGCG

CTCCAGTGAATTTCCCTTTCTGGTCATTCTCTACCCCAGCACGCCCCCCACCCCCGACCCGCCCCACCCA

CCCACCTGTTCATTTCCTTCTTAGCATGCTTCACGATTTCTAAGTTCCTGCTCATGTGTTTAAATTGTGA

GTCTGGCTCACCTCATGGCGCGTGCTCGTGTGGTGGGCTCTGCTGCAGCCTCAAGACCCCACACTGTGCT

GGACTCAATAAATATTGTTGGACGAAGGAATGAAACACATGATACAAGTGAGCAGGCAGTACCGGGGGAG

CTGTGGAGTGGGCACTCTTACAGGTTTCCATGGCGAAAGCGGGGGTACAGTTGTGTTCTTTTCTTTCTAA

AAGGCTTTCTAAAAAGCCTTCTGTTTAATTTCTGGAAAAGAAGCCTAACTTGTTCACTACATAGTCGTCC

TTCTTCCTCTCTGGTAACACTTGTTGGTCTGTGGAAATACTAATTTAATGGATCCTGAGGTTCTGGAAGT

ACTTTGCTGTGTTCACTCAAGAATGTGATTTGAGTATGAAATTCCAGCCAGTTCAACTGTTGTTGCCTAT

TAAGAAACCTAATAAAGCTCCACCTTCTTTATCTCTGAAAGTGAACTCCCTGCTACCTTTGTGGACTGAC

AGCTTTTTATAGTCACGTGACACAGTCAAACATTAACTTGGTGTATCGATTGGTTTTTGCCATATATATA

TATATAAGTAGGAGAGGGCGAACCTCTGGCAGGAGCAAAGGCGCCATGGCTGTGGAGTCCCAGGGCGGAC

GCCCACTTGTCCTGGGCCTGCTGCTGTGTGTGCTGGGCCCAGTGGTGTCCCATGCTGGGAAGATACTGTT

GATCCCAGTGGATGGCAGCCACTGGCTGAGCATGCTTGGGGCCATCCAGCAGCTGCAGCAGAGGGGACAT

GAAATAGTTGTCCTAGCACCTGACGCCTCGTTGTACATCAGAGACGGAGCATTTTACACCTTGAAGACGT

ACCCTGTGCCATTCCAAAGGGAGGATGTGAAAGAGTCTTTTGTTAGTCTCGGGCATAATGTTTTTGAGAA

TGATTCTTTCCTGCAGCGTGTGATCAAAACATACAAGAAAATAAAAAAGGACTCTGCTATGCTTTTGTCT

GGCTGTTCCCACTTACTGCACAACAAGGAGCTCATGGCCTCCCTGGCAGAAAGCAGCTTTGATGTCATGC

TGACGGACCCTTTCCTTCCTTGCAGCCCCATCGTGGCCCAGTACCTGTCTCTGCCCACTGTATTCTTCTT

GCATGCACTGCCATGCAGCCTGGAATTTGAGGCTACCCAGTGCCCCAACCCATTCTCCTACGTGCCCAGG

CCTCTCTCCTCTCATTCAGATCACATGACCTTCCTGCAGCGGGTGAAGAACATGCTCATTGCCTTTTCAC

AGAACTTTCTGTGCGACGTGGTTTATTCCCCGTATGCAACCCTTGCCTCAGAATTCCTTCAGAGAGAGGT

GACTGTCCAGGACCTATTGAGCTCTGCATCTGTCTGGCTGTTTAGAAGTGACTTTGTGAAGGATTACCCT

AGGCCCATCATGCCCAATATGGTTTTTGTTGGTGGAATCAACTGCCTTCACCAAAATCCACTATCCCAGG

TGTGTATTGGAGTGGGACTTTTACATGCGTATATTCTTTCAGATGTATTACTTTGGATCGATTAACTAGC

CCCAGATATATGCTGAGCAAGCATTCTGAGATAATTTAAAATGCCCTCTTTTGTTAATTTTTGACTCCTA

GGTTTGAGTCTGTCTTTGGCATCATCTTCTGGATGATTTCTTGGTATCTGAGATTTCGGGAAAGCATTCC

TTGGACATTTTACTCTGTGTGCTCCAGTGGATAGTAATCAATTAGAAACAACAAGCTGTTAAATGCCATA

GGCACAGAATGCTGGGTTTGGGGCACCCTGCAGAAAACTCAGTTGAAGCCTGCACCTTGCCCTGGATTCA

GTCAGGCAGGCAATGTTCAGGACTGATGAAATCATTCTTTGATGATGATAGATCCTGGAAATGAAAGTTG

CCTTTGTGACCCTGGTTAAAGCTCCAGTTTCTAAATATTCTGATAAGAAGCTAAATCCTGCAGTCCGTTC

TCTTCTAATGAGTGAATCACCAGACAGTCAGGTTCTGACATGATACAGAAAGGTTGTAGGTTTCATTCTC

AAGCTATTAGGTTTATTTTTCCCCTACAGAGTTTGAAGTATGCAAAAAGTAGCATTCACATCCTCATCGA

AATCTCAGCAGAGGATAGAAAAGAACAGGAGAGGCTCCTTCAGATGGAGCGTTAGGGAATTACTCTTTGA

GGAGGTGACATTTCAGAGAGCGTTCATTCACTTATCCTGCAAAGATTGGCTGAGGATCTACTGGCAGCCC

AGGCACTTCCCAGGTGCTGCGTCTGGCTCCCATTAAGGGGACTGATATCACCTTCGGAGGTGACCTTATT

TCCACTATACCTCCAATGTGATTTGTATTTTATTTTTTTTAATTTTCTGTGCATTTTCCTTCATAGCACA

TCAAATATGGCAGCCATTTCACTTAGATAGTTGTTGATTGTCCGCTTCACATCATGAGCCATGTGGGGAC

CTGTGTGACTTTGCATTAATCACATCCACTGTATGCGGCGTCCTCAACACCTGCCAATGGGTCTGCATGT

ATTTGGCGCCCCATAAATCTCAGCACCTAAGGCACAGAATAGGCACCCACCGAATATGTGTTACATTAAT

GAATGAGAAGAAAGGTGCCAACCGAGGTCTAGTTAATGGGTCGAGAGTAATCCACAATAGCTCTTTTTAG

TTCTTTGTACTCCAGCTATTACATACCAATATGTATATAGAAACATATGTAAAATTTTTTGGTTGCTTTT

TCTACAAAATAGAGTAACAGTGTATTCCCACTGCCCACTTACCGATAATGTCATGGATATCACTCCAGTT

TTAAATGCTATTACTTTTTAAACTATGAAATAGTATTTCATGGTACTTGTGTACCACAGTGTATTCTGCT

GGAGATCTAGTCTAGTTCCCCACAGAGGAACATTACAATTTGTATTCCAGGAGTTTTGTTGTTGTGACCT

CAAACACTTCCTTTAAAAAGATAAGCTATTTTGTAGTTTAAAAAACATTTGTTCTGTTTCTTTCTCATTC

ATCTTTTCTTAAGTATTTTACACGGTTTTTTTTTTTTGGTCACTACTGTGAATGTGTTATTTTTTTGCAT

TTCTATCTCTAGCTGATTATCTACTCATTACTCAGCTATCTCATCAAAATATTGATTTTCATAATAAAAA

ATAATAGGCAGTCATTTGCTGATAAAGAAATTTTGGTTTCTTCTCTTATAAATTCCATGCCAAATATCAG

GGCTATTGAATTTATTAGAATCTCTAAAAACAGTTGAATAATTCTGGCAATAGGAAAGATGCCCGTCTTG

CTGCTATTTTAGTGGAAATTGATTATCATTTCATTATTTTGCATTATGTTAGCCATTGTTTTCTGAACAG

GCTTTATTGATTTAGATAATTTCCTTCTTTGCGTGAGGATGTTTGTAGGAGAGGCACCGAACTTTATCAG

CTGCCTTTCTGGCATTTATTGATATAACCATAAAAGTCTAAGTGGTGAACTGTGTTGACTACATATTTGT

TGTTGCCTTGTTTGGTGCAGTCAGGCTTAGGTGTGAAAATATGTTTTTAAATTGTACCTTTTAGTAACCT

GTTTTGTCTTGTTGCATGTTTTAATCTGAAATTCCACTTTTTGGATATTAATATTACCACTTCTGTATTA

TTTTTGTTTACATTTCCCTAGCACATCTTTAGTACTCCTTTGTCTTCAAGCTTTCTTCCTTTTTAAACAA

CATGGCACTGGTATTTTTAATCCAGTCAGGCAGTTGCTTTAATAAGTGCATTTTGCCTATTTGAATCTAA

CAATTAATAGATTTGATTGTAACTCTCTCAGTTTACTTTATGTTTAGTTGACTTTGCCATTCTCCTTTTT

CCGGATTTCTACTGGTTGGTCAAGTTACTGTTCTTATTTTCTCTTTCTTCCTTTGTTAACTAAAAATGCC

ACTCTGCACTACCATTCCTCTTGTGTTGATGGTCCTATTCTCAATACTCTTGATAAAACTCCTGAACTTT

AAGAATAAAGATAAAACTTTTATTGCACAAAGAAGTCCATAGAGAAAGCACAACCTGGCATTGGCGTGTC

TTTGGTGTGTCTGAAGGAAAAGAGATAGTGGAACAACATTGGGAGAAAAGGAATGAAACTCAAGAATTCC

AAGATGTTCCTCCCCTGCCAGGGTAAGATAGCAGTGGTTCACAGACAATCGCAATGCTGGGTCTGAGAAA

AATAACTAAACAGAAGATTAGTGAGGACCAAGGCTTCGAGATGGCCAGGAGAGGAAAGCTTGGGAGCAGG

GAAGGTTGAGATATATGTGGGTTACTGGGAATGCGTGATGGTGAAGTCACAGATGACCCACATGGTGTCT

AAGTGCTAAAGAAGAATTCTGGGAAAATGAAATGCATTTGGGAAGGGAAAATCTAATTAAAAGCCTAAAC

TAAAAATACAAAATTCTTGGTAAAGTTTAGGAGTTATGTTAAATGTCTCATTTTGGCTGGTGAAGTCTCA

TCAGAACAGGGAAATTCTCTCATTCAGGGGCATCTCATCTTTTCTTTGAAGGGAATCAATGGTGGGGGAT

TGGAGTGTTATTTTCAGTTAATATGTTGCTTCACTCTTTGGTCATTCCGGTAACTGTGAAGTCAGGGTGA

AGTTTAAGGGAAGCTTTGCCAAGTAGGGGATGGACTTCACCTTTATTGAGCCTCATAGTAGCTGGCTCAG

GTAGGAGTTGGCCGTGATGACAACTTCTCTGCAGTTTGCCCTGCGTGAATCTCCAGATGAACTTTTGTGC

CATTTAAACTTTCGTGATCTCCTGCTATTTAACTTCGAATGTTTATGGACCTGTGGGTTCAATTTTGTGT

GAATCACATCCTGCTGATTGCTGAGTGGGCGTGTGGGAGGGTGTGCCTGGAGGAGAACTTAGACTCGGCC

TTTTCCAGATGAGCTTCAGTGTAAGAGTGGGTTTCATGAAGAGCAAAGGTCCTAGGAAATTTAAGTAAGC

CATTTACCAACGCTCAGAAGAAAGAACTTGAAGAGCACTTGGAAATGAGCTGTGTCTCCCCAAGAAAGAG

GGAGAGAAAGAGGGGAGAGATGTGGTGCAGACCCTAGGGAGGAAGGAGTTCAGAAAAACCATCCTCAGGG

TGTTCTTGCTACAAACCAAAAAATGCAGCATGGTGGTGGGGAGGATGACTCTGTCCTCCCTGACTTTTAG

ATGAGCCCAAGGGAAAAGGCAAAGACAAAGCCCTTAAGAGCCAGAGGACTCACGAGGGCCTGGGGCTGGT

GAGAGTGGCGGGGAGAGAGGGCTCACCTTGGGAGAAGGATGGTCAGTGTCTGGGGCTTTCCTGGTCATGT

TCCAAATCAGGCTTGGCAGGAGTCCTGCTGTGCAAATTGCGTTTGCTGAGCCCTGTCAGAGGTCTCCTGT

GTCTCACATCTAGGGTGACCAGCATCCTGGCTTCCTCAGGACTGTTCAGGTTTTAGCACTGAACATCACA

TGTCCTAGGGAACCCCTCAGTTTGGGCAAGCCCTGCCACATCACACAATCATATTAGTGCCCTCAGTATT

CTTTGCAAACATAAAACCATAGACTCAGTAATCCCATTACTGGGTATATACCCAAAGAAATATAAATTAT

TCTACTATAAAGACACATGCACATATTTGTTTATTGCAGCACTATTCACAATAACAAAGTCATGGAACCA

ACCCAGATGCCCATCAATGGTAGATTGGATAAAGAAAATGTGGTACATATACACCATGGAATACTATGCA

GCCATAACAAGGAATGAGATCATATTCTTTGCAAGGACATGGATGAAGCTGGAAGCCATCATCCTCCACA

AACTAACACAGGAACAGAAAATCAAACACCGCATGTTCTCACTCATAAGTGGGAGTTGAACAGTGAGAAT

GCGTAGACGCAGGGAGGGGAACAACACACACCAGGGCTTGTGGCGGGGTGAGGGGTGAGGGGAGGAACTT

AGAGGATAGGTCAATAGGTGCAGCAAACCACCATGGCATATGTATCCCAGAACTTCAAGTAAATAATAAT

AATAATAATTAATAATAATAATAATAATAAATAAACCCATAAAGCCATTTGAGAGATTCTTGGGGGATTC

ATTGGACCACTGAAAATCTACAGTGAGAAAAGAATTGCCATGTTGATGAAACAGGAAAACTTTCCTTGTC

CCCCTCACAGAGCATGTGACAGCGGGAGGGGCTCACTTTCTCAGTGCGCCACTGCTCAAACCTCTAGGGG

AGCATACAGACGGGCAGGTTGTGGGGCTCTGACCTCACCGGCAGTGTCTAGAGGTGGATGTTTACAGCTC

CTGAAGCTCCAGTGGGCGTGGGTTATGGCCTTCTTTTAGTTTTGCCCTCTATAGTCAGCTTGTGTTAACC

AGCTCAATTACACCCTCTACCTTGTCGCAAGGACAGAGGGCTTTCTGTATCCTGGGGGCTTGCCTTGGTG

TACCAGAAGAATCGAATCCCACCTGGGCTTGGAGAATGAGTGCAAGGATTTATTGAGTGGATGTAGCTCT

CAGCAGATGGGGGAAGCCAGAAGGGGATGGAATGGGAAGGGTTTCCCCTGGAGTCAGACCGCTCAGTGGC

CCGGGCTCGGTGGCCCGGGCTCGGTGGCCTGGGCTCTCCTCCGACTGCCTCAGCCAAACTCCGCGTTGTT

CTGCTGGTCAGTGGCCTGCCGGTGCCTGTTGGTGAGTTCTTCTCAATGTCCAGCTGTCCTTGCGTCCCTC

CGCTGATGTGCTCCTCCCGATGTCCAGCTACCTGTGTGTCTGCCTGCTAGGGTCTTGGGGTTTTTATAGG

CACATGATGGGGGCGTGGCAGGCCAGGGTGGTTTTGGGAAATGAAACATTTAGGCAGGAAAACAAAAATG

CCTGTCCTCACCTAGGTCCATGGGCACAGGTCTGGGGGTGGAGCCCTCGCCAGGGACCACACCCTCTTCT

ACCCAGCACTTCCCTTCCCTACTTCCATATCATTTAAAGGGACCACGCCCTTCCCAGCTCTTCCCTTCTG

TATCACTGATGCCTTGCTCTGTGTTCTCTAAGTGGAATTATCACTGTGTGTATGTACAGGTGTGTGCATG

TGTGTGCATGTACCTGTGCTTTTCTTTTGGAAAACTAGCACATTACCTGGATTTTGCATCTCAAGGATAA

TTCTGTAAGCAGGAACCCTTCCTCCTTTAGAAGGAAGTAAAGGAGAGGAAAATGCTGTAAAACTTACATA

TTAATAATTTTTTACTCTATCTCAAACACGCATGCCTTTAATCATAGTCTTAAGAGGAAGATATCTAATT

CATAACTTACTGTATGTAGTCATCAAAGAATATGAGAAAAAATTAACTGAAAATTTTTCTTCTGGCTCTA

GGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTC

TCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTAAGAA

GATTCTATACCATGGCCTCATATCTATTTTCACAGGAGCGCTAATCCCAGACTTCCAGCTTCCAGATTAA

TTCTCTTAATTGGAACCTTAGATTTGGCTTTTCCCTGCCACTTCCCAACTATTAATCCAAAGGTTTTTTT

TGTTGTTGTGGTTGTTGTCATTGTTTTCAATTTGACTCTCAAATACTCTATTAAACTATGATCCACCACA

CTCAGAAGTATCATTTTCTCTAAGAGACTCAAAAGTGTATTAGGGAGAATTTATTTAAAAATAAAATAAA

TGGGATATTGTTTCTTCATATTAAATAGAAGTATTTCTCCAAAAAGCTGTTGGTTAGAACACTGAATTTA

TGTCTTACATTTCTGCTCTTATAGTTCTGCATCCACTTGTTTCATTAAGCAAACTTTCCCTTAAAGTGCA

GGAAAGTGAAAAAATCCTAAGTGCACAGCTTGATAAATTATCACAAATTCACGTAGTGCATACACCCTTG

TAACTAAACCTCCAAAACAAGATGCCGGAAGTTGCCAGTCCTCAGAAGCCTTCACAGTTACTGATCCTCC

CACTCTGTTAAAGACTGTTCCTTCAGAGGACCCCTGTTTTCTAGTTAGTATAGCAGATTTGTTTTCTAAT

CATATTATGTTCTTTCTTTACGTTCTGCTCTTTTTGCCCCTCCCAGGTCCTGTGGCGGTACACTGGAACC

CGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTATGT

TGGGCGGATTGGATGTATAGGTCAAACCAGGGTCAAATTAAGAAAATGGCTTAAGCACAGCTATTCTAAA

GGATTGTTGAGCTTGAAAATATTATGGCCAACATATCCTACATTGCTTTTTATCTAGTGGGGTATCTCAA

CCCACATTTTCTTCTGCAAATTTCTGCAAGGGCATGTGAGTAACACTGAGTCTTTGGAGTGTTTTCAGAA

CCTAGATGTGTCCAGCTGTGAAACTCAGAGATGTAACTGCTGACATCCTCCCTATTTTGCATCTCAGGTC

ACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGT

TCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCT

GGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATG

ACAAAAGGTAAGAAAGAAGATACAGAAGAATACTTTGGTCATGGCATTCATGATAAAATTGTTTCAAATA

TGAAAACATTTACGTAGCATTTAATAGCGTTGTTTCAAATATAAAAACAAATACATAAAAATCTGGATTT

TTATTTCTTCTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCA

GTGGTGCAATCTTGGCTTACTGCAACCTCCACCTCCCACGTTCAAGCAGTTCTGCCTCAGCCTCCGTGTA

GCTGGGATTACAGGTGTCCACCACCACGCCCGGTTAATTTTTGTATTTTTTAGTAGAGAAAGGGTTTCAC

CATGTTTGTCAGGCTGGTCTTGAACTCCTGACTTCAGGTGATCCACCTGCCTCGGCCTGCCAAAGTGCTG

AGATTACAGGCATGAGCCAGCGCGTCTGACCTGGATTTATAAATAAGATAATTTAGAGGTTATTATTCAC

TTTATAAAAGGATTCTTTAGTTTCTATATAATTTATCATATAATTTATTTAGAATTTTATTTCCCCCATT

AGATTTAAAACTCCAATTTACATAAAAAGTTGCCATAATAGACATCTGATCCATAAGTTTCCTGCACAGA

AAGAAATACTCCATTATAAGAAGCATAGTATCTTTAAGAGAAAAACAACTCAAATGCTTAGAAGTACAGC

TTTTTGCAGCACTGGAACCTGTGAGAAATTTTGTCCATGGAGTTTATGAATGAAGGAGCTATAAGATATC

ACAGACAAAGTCTTAGAATAAGAGCAAAGGAAAATTTGCTCAAATGTGGCCCTGAAAACGATTCAAAGGG

CAAATGATTTCTGGATTAAAGTTAGTATATTACTGTCAAGCTCACTGGTAATAGGCTTATTAGAACCTTA

TGGGAAGAAGTGGTGGCCAGTGGTAGATTTCATCCGACAATAGATACTGTGTGCATATGTGCGTGTGCGT

TTGTGCATGTGGCTGTGCTCATGTGTGGGTGCACACGTGTGCATTCATATGCGTGTGTGTGTGTGTGCGT

GTGTTTATGAGAGTGTCCATTGCTTTCTCCCATGGTTACCTCCTTTAGAAAGAAGCAGCAGTCAGGAAGA

CAGATGTGAAGAGCTGGAGCATGTTCAGATGAGAGGAGACGGAACACGGGGACACACCAGCTTGAGCAAG

GGACAACAGGGGAGGACTGATGACTGACTTCCCACCTTTGAGGTGCTAATGTGTGTGTGGTGGCACTGGA

TAAAAGATCAATGTTGGCTAGGCACCATGGCACACGCCTGTAGTCCCAGCCACTCTGGAGGCTAAGGCGG

GAGGATTGCTTGAGCCCAGAAGTTGGAGGCTGCTATGAGCCGTGATCATGCCACTGCACTCCAGCAACCT

GGGCAACAGAGTGAGACCCTGTCTCAAAAAAAAAAAAAAAAATGAAAAGTCCACATAACCTGAGCATCAT

GTGCCCAGAGCGTTGGGTGGTGTGGTCCCATTCCTTCCTTCCAGCGGCTTCTTCTGGCCACCTCAATGTC

AGGATGTCCTGCTCACATATCAATACCATTAAAACCTGACTTCTTTCCCTGCACTGTTGAAGCTCCTTCT

TGAGGCTCACATTATGGATATAATTTTGATTCTTTCTTCAGTGGTATAGATAACTACTTGTAACCTAAGA

ACAACTTGGTGAAAGTCCTCTAATACATTATTTTTTAAAAAAACACAAATCAATGAGCTCAACTTATTAA

CTAACTTTCATCTATTCATTTTTGAGCCATCCCTGTCTGATTGTGAATCTCCATGATTCCAACACTCTGA

GCTGGGGATAGTGCCTACACAAAATAAAAAGAAGTGGAAAATTTTCAAACATCAGTTTATGCTGACAACC

AGGCCATAATAGGTGCTCAATTACTATTGAATGAATGAATGAAAGTTCTGGCCAGGTACGGTGGCTCATG

CCTGTAGTCCCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTTAGGAGTTCGAAACCAACCT

GACCAACATGAAGAAACCTTATCTCTACCAAAAAAATATAAAAAAATTACCCAGGCATGGTGGTGTATGC

CTGTAATCCCAGCTATTTGGGAGGCTGAGGCAGGAAAATCACTTGAACCTGAGAGGCGGAGGTTGCAGTG

AGCTGAGATTGTGCCACTCCACTCCAGCCTGGGCGACAGAGTGAGACTCCGTCTTACTTAAAAAAAAAAA

AAAGAAGGTTCCAAGAAAATTCATCTTAAGGTTTATGTAAAAGGAAGATGATATTTAACATGATTCATGG

CCAAGTACTAATATTACATTATAATAATGTTTCCAAATAACATTATAGATATGTTTAAAGACAGTGTATT

AGGCTGTTCTTGCATTGCTGTAAAGAAATACCCAAGACTGGGTAATTTATAAAGAAAAGAGGTTTCATTG

GCTCGTGTTTCTGCAGGCTGTACAGGAAGCTTAGTGCTGACATCACTTGGCTGCCGGGGGAACCTCAGGG

AGCTTTTACTCATGGCAGAAGGCAATGCGGGAGCTTGCATGTCACATGGCAAAAGCAGGAGCGAGAGAGA

GTTGGGGGGGAAGGTGCCACACACTTTTTAATGACCGGCTCTCACAATAACTCATGAAAACTCACTATCA

GGAAGACAGCACTAAAGCACAAGGGATCCGACCCCATGATCCAAACACCTCCCACCAGGCCCCATCTCCA

GCACTGGGGATTACAATTCAACATGAGATCTGAGTGTGGACAAATATCCAAACTGTATCAGTCAACAGCG

ATCATAATTAGTCCTGAATAGGAGTGCCTTTTTTTTTCTTTCTTCTCCCTTTTCTTTTCTACTTCCTCCT

CCTTTTCCCTCTCCTCTTCAATCTCCTCTTCATTCCTGTAGCACCAAGGGTTGAAGCACCTAACCCGTTT

TGGATTGAGATGTTCTGATTGGGCAATGAACACTGTCCAGAATAAACAGAAATCCATTTTGCACTAAGTG

GCTGCACAGACCCTGCCTCATGCTAAATCTAGCACCCAGATAGTTTAATGTTTCAATGACTGAATTACAA

ATATATCATCACCTTGGATTTGGCACTTACAAATGGCTGTTAATTTGGCCAGAGGTGGTTGTTTACAACT

TCAAATAGGAGACTATTCATAATTTCTGACGTGACATTTTCCTTTCTTTATTTTACTGTATGAAAATATA

ATGAAATTTCTCACAAAATATCACTAAAAAGAAAAGAAGAAGAGTAGGAAGCAAGGTTAAAATATTTCTA

AAATATAATTTTGGTCTTTCTTTTTCTCCCTTCCTTCCTCCGTCCCTCTCTCCTTTCCTCTCTCCCTCCC

TCCCTCCCTCCCTTCCTCCTTTCCTTGCTTCCTTCCCTCCTTCTCTTCCTTCTTTTTCAAGAGATCAATA

ACATTTATTAAGAATAAGTTTCTTAATTATAACCTTTCAGGTGATAATAGTAACACAGCCTGGGCAACAC

AATAAGACCTTGTTTCTACAAAAAATTTAAAAATTGGCCAGACATAGTGGTGCATGACTAATTCCAGCTA

CTCTGGAGGCTGAGGCAGGAGGATGGCTTGAGCCCAGGAGTTGGAGGCTGCAGTTAGCCATGCTTGTGCC

ACTACACTCCAGCCCGGGCAACAGGGCAAGACTCTGTATCTAAAAACAACAACAACAACAATAATAGAAA

CAGGTTTCCTTTCCCAAGTTTGGAAAATCTGGTAGTCTTCTTAAGCAGCCATGAGCATAAAGAGAGGATT

GTTCATACCACAGGTGTTCCAGGCATAACGAAACTGTCTTTGTGTTTAGTTACAAGGAGAACATCATGCG

CCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTG

ATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCT

TGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTA

TGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGAA

GTGGGTGGGAAATAAGGTAAAATTTTGAACCATTCCCTAGTCATTTCCAAACTTGAAAACAGAATCAGTG

TTAAATTCATTTTATTCTTATTAAGGAAATACTTTGCATAAATTAATCAGCCCCAGAGTGCTTTAAAAAA

TTCTCTTAAATAAAAATAATAGACTCGCTAGTCAGTAAAGATATTTGAATATGTATCGTGCCCCCTCTGG

TGTCTTTGATCAGGATGACATGTGCCATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTT

TTCTTACTCTGAAACATGGCCTGTTTGGGAGTGCGGGATTCAAAGGTGGTCCCACGGCTGCCCCTACTGC

AAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTC

AGTCCTCATCTCTGTCGTGCTTCATAGGTGCCACCTTGTGTGTTTAAAGAAGGGAAGCTTTGTACCTTTA

GAGTGTAGGTGAAATGAATGAATGGCTTGGAGTGCACTGAGAACAGCATATGATTTCTTGCTTTGGGGAA

AAAGAATGATGCTATGAAATTGGTGGGTGGTGTATTTGAGAAGATAATCATTGCTTATGTCAAATGGAGC

TGAATTTGATAAAAACCCAAAATACAGCTATGAAGTGCTGGGCAAGTTTACTTTTTTTCTGATGTTTCCT

ACAACTAAAAATAAATTAATAAATTTATATAAATTCTATTTAAGTGTTTTCACTGGTGTCGCATTTATTT

CTTGTTAAGTTGCATTTTCTAATTACAAAAGTAATGCATGATTATGACAGAAAGTTTGGAAAATATAGAG

GTTCACACACACACGCCTTCATTGCGTGTGCATGCATAAATGCATGAGAAAAGAAAAATAACCAGTAATC

ACATCGCCCAGAAATAACCCCAGTTACAATTGTGGCAAATACACATACTTATAAATATTGCAGATATATT

AAGTATACCTAGTATTTGCTAACACTCTTTCTTCTACTCTGTCATGAAGATTCTCCCAAGGTGTTTTTGT

ATAATATTTAATTCATTTTCAGTGGCCAAGCAGTATTCTACTTCATGGATATACCAGGATTTATTTAACC

ATAACTTCTGGTTGGATTCACTCTTATTATTTTGTTTAATTAAAAAAAAAAGACCTCGGCTGGGCACAGT

GGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTAAGATCGGGAGTTTGAG

ACCAGCCTGGCCAACATGGCAAAACCCCGTCTCTACTAAAAATACAGAAAATTAGCCGGGTGTGGTTGCC

AGCACCTGTAATTCCAGCTAATTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCGGGGTCAGGGGGTTCG

GAGGTCGGAGGTTGCAGTGAGTCCGGATCATGCCACTGCATTCCAGCCTGGGTGACACAGCCAGACTCTG

TCTCAAAAACAACAACAACAACAAAACAACAACAACAACAACAACAAAAATCTCACTGGACATCC

GCTAAGGCTTTCCACATATTCATGATTACTTCTGTTGGAAAGTGCTTTACAACAAATTGCTAGTTGTCTC

AGTCTGGGTTCCCCTGAGATGAGGATTCAAGGGCCAGGAGTTTATTTAGGAAGTAAAGGAAACACTGATA

GAGGAGTGGCAGAGTGAGAAGGGGTGATGGTCATCCACAGCTGGCTCTCTTGTGGTCAATCGGAGCTTAA

TCCTGCTGGGTGACTCTGGGAGCCAGTGGAGAAAAGACACCCCAGACTTATCCCAATGAGGAACACGGCT

GTTGGGTGCCTGAGTACTTGCCTCGTCAGGGATTGAAACGTACTCCCAGGTAGTAGTAATTTCTCTGCCC

TTCCATTAGGCCACAAAGGGGGCTCTGACAGAGAGAGCTGACGAGAAAAAACACACGCCCTTGTCACTGA

AGAGGTACACAGGGGATCTGTGTGGGGCACCACCTGCACTGCTACCCTGGACAAATAGCTTAAGAAATCC

CCACACTGCATCCCCAAACTTACTATCAGCGTGTGAGGGAGACAGGTTCCCACACCCTCATTAGCACAAA

GTACTATCTTGAAAAAGAAAGCCTGTCAGTTTGATAGGAGAAAAGCAGGATCTTGTTTACAATGTGCTTT

TATTATTGTTATTATTAGAGATTGTATTTCTTTTCAAGCTGATGAGCCGTCTGTGTTTATTTTTTGGAGG

ATACCCTTTGCCCACTTTCCTATTGGAGTGTATTACCCTGAGGATTTGGTAAGAGTGCTTATTGCATTCA

CCAGAATGTCCTTTTTGTCATTTACTGTATTTTCTCTACTTTTTTTTTTTTGCCTTGTTTTACTTTTTTT

GTTTTGTATTACAAGCAGAAGTTTTAAATTTGTAAGCTTCAAATTGGAGCTGGGGTGGTGCAGAGCGAAG

ATTTCAGCTGGTTCCCTGACCCCAGCTCCATCTCCTTCCCTAGGCAGTGGCTGGAACACATTCTGTCCAC

TATTTCCCTCTCTACATCCTTGAGGCTGTGCAGTCACCCCTCAACTACGTTCACCCTCCTTCAAAGCCCT

TCCTGGTCCACCCGGGGACCATCTCCCGGCCTCACTGCCCCTAGCTCCTTGACGCCCCAACCTCTCTCAG

GGACCCCAAGTTGCCATGACCTCCAGCCAGCTCATGTTCATTTGCACCTTCGTGTCTGCAGCACTGAGGC

ACTCTTG

7. Motif

Pfam (3 motifs)

Pfam	Position(Independent E-value)	Description
UDPGT	28..524(8.3e-252)	PF00201, UDP-glucoronosyl and UDP-glucosyl transferase
EryCIII-like_C	343..447(2.8e-15)	PF06722, Erythromycin biosynthesis protein CIII-like, C-terminal domain
Glyco_tran_28_C	369..441(2.1e-08)	PF04101, Glycosyltransferase family 28 C-terminal domain

8. Evolutionary Relationship

Evolutionary analysis by Maximum Likelihood method

The evolutionary history was inferred by using the Maximum Likelihood method and JTT matrix-based model [1]. The tree with the highest log likelihood (-14492.59) is shown. Initial tree(s) for the heuristic search were obtained automatically by applying Neighbor-Join and BioNJ algorithms to a matrix of pairwise distances estimated using a JTT model, and then selecting the topology with superior log likelihood value. The proportion of sites where at least 1 unambiguous base is present in at least 1 sequence for each descendent clade is shown next to each internal node in the tree. This analysis involved 100 amino acid sequences. There were a total of 881 positions in the final dataset.

9. SNP

SNP	COORDINATE	AMINO ACID CHANGE	GENE ID	TRANSCRIPT ID	PROTEIN ID	SIFT SCORE	SIFT MEDIAN	SIFT PREDICTION
rs4148323	234669144	G71R	ENSG00000242366	ENST00000305208	ENSP00000304845	0.122	2.71	TOLERATED
rs4148323	234669144	G71R	ENSG00000241635	ENST00000608383	ENSP00000476741	0.122	2.71	TOLERATED
rs4148323	234669144	G71R	ENSG00000241635	ENST00000360418	ENSP00000353593	0.152	2.61	TOLERATED
rs28934877	234676979	N399H	ENSG00000167165	ENST00000305139	ENSP00000303174	0	2.7	DELETERIOUS
rs28934877	234676979	N400H	ENSG00000242366	ENST00000305208	ENSP00000304845	0	2.71	DELETERIOUS
rs28934877	234676979	N397H	ENSG00000242515	ENST00000344644	ENSP00000343838	0	2.71	DELETERIOUS
rs28934877	234676979	N397H	ENSG00000241119	ENST00000354728	ENSP00000346768	0	2.7	DELETERIOUS
rs28934877	234676979	N400H	ENSG00000241635	ENST00000360418	ENSP00000353593	0	2.62	DELETERIOUS
rs28934877	234676979	N401H	ENSG00000244474	ENST00000373409	ENSP00000362508	0	2.7	DELETERIOUS
rs28934877	234676979	N401H	ENSG00000240224	ENST00000373414	ENSP00000362513	0	2.71	DELETERIOUS
rs28934877	234676979	N397H	ENSG00000244122	ENST00000373426	ENSP00000362525	0	2.73	DELETERIOUS
rs28934877	234676979	N397H	ENSG00000242515	ENST00000373445	ENSP00000362544	0	2.6	DELETERIOUS
rs28934877	234676979	N397H	ENSG00000241635	ENST00000373450	ENSP00000362549	0	2.7	DELETERIOUS
rs28934877	234676979	N401H	ENSG00000243135	ENST00000482026	ENSP00000418532	0	2.68	DELETERIOUS
rs28934877	234676979	N401H	ENSG00000241635	ENST00000608381	ENSP00000477394	0	2.71	DELETERIOUS
rs28934877	234676979	N400H	ENSG00000241635	ENST00000608383	ENSP00000476741	0	2.71	DELETERIOUS
rs28934877	234676979	N397H	ENSG00000241635	ENST00000609637	ENSP00000476286	0	2.7	DELETERIOUS
rs28934877	234676979	N401H	ENSG00000241635	ENST00000609767	ENSP00000476805	0	2.68	DELETERIOUS
rs28934877	234676979	N132H	ENSG00000167165	ENST00000373424	ENSP00000362523	0.049	2.44	DELETERIOUS
rs28934877	234676979	N132H	ENSG00000167165	ENST00000406651	ENSP00000386107	0.056	2.57	TOLERATED
rs28934877	234676979	N399D	ENSG00000167165	ENST00000305139	ENSP00000303174	0	2.7	DELETERIOUS
rs28934877	234676979	N400D	ENSG00000242366	ENST00000305208	ENSP00000304845	0	2.71	DELETERIOUS
rs28934877	234676979	N397D	ENSG00000242515	ENST00000344644	ENSP00000343838	0	2.71	DELETERIOUS
rs28934877	234676979	N397D	ENSG00000241119	ENST00000354728	ENSP00000346768	0	2.7	DELETERIOUS
rs28934877	234676979	N400D	ENSG00000241635	ENST00000360418	ENSP00000353593	0	2.62	DELETERIOUS
rs28934877	234676979	N401D	ENSG00000244474	ENST00000373409	ENSP00000362508	0	2.7	DELETERIOUS
rs28934877	234676979	N401D	ENSG00000240224	ENST00000373414	ENSP00000362513	0	2.71	DELETERIOUS
rs28934877	234676979	N397D	ENSG00000244122	ENST00000373426	ENSP00000362525	0	2.73	DELETERIOUS
rs28934877	234676979	N397D	ENSG00000242515	ENST00000373445	ENSP00000362544	0	2.6	DELETERIOUS
rs28934877	234676979	N397D	ENSG00000241635	ENST00000373450	ENSP00000362549	0	2.7	DELETERIOUS
rs28934877	234676979	N401D	ENSG00000243135	ENST00000482026	ENSP00000418532	0	2.68	DELETERIOUS
rs28934877	234676979	N401D	ENSG00000241635	ENST00000608381	ENSP00000477394	0	2.71	DELETERIOUS
rs28934877	234676979	N400D	ENSG00000241635	ENST00000608383	ENSP00000476741	0	2.71	DELETERIOUS
rs28934877	234676979	N397D	ENSG00000241635	ENST00000609637	ENSP00000476286	0	2.7	DELETERIOUS
rs28934877	234676979	N401D	ENSG00000241635	ENST00000609767	ENSP00000476805	0	2.68	DELETERIOUS
rs28934877	234676979	N132D	ENSG00000167165	ENST00000373424	ENSP00000362523	0.013	2.44	DELETERIOUS
rs28934877	234676979	N132D	ENSG00000167165	ENST00000406651	ENSP00000386107	0.015	2.57	DELETERIOUS
rs34946978	234676872	P365L	ENSG00000244474	ENST00000373409	ENSP00000362508	0	2.7	DELETERIOUS
rs34946978	234676872	P365L	ENSG00000240224	ENST00000373414	ENSP00000362513	0	2.71	DELETERIOUS
rs34946978	234676872	P361L	ENSG00000241635	ENST00000373450	ENSP00000362549	0	2.7	DELETERIOUS
rs34946978	234676872	P365L	ENSG00000243135	ENST00000482026	ENSP00000418532	0	2.68	DELETERIOUS
rs34946978	234676872	P365L	ENSG00000241635	ENST00000608381	ENSP00000477394	0	2.71	DELETERIOUS
rs34946978	234676872	P365L	ENSG00000241635	ENST00000609767	ENSP00000476805	0	2.68	DELETERIOUS
rs34946978	234676872	P363L	ENSG00000167165	ENST00000305139	ENSP00000303174	0.001	2.7	DELETERIOUS
rs34946978	234676872	P364L	ENSG00000242366	ENST00000305208	ENSP00000304845	0.001	2.71	DELETERIOUS
rs34946978	234676872	P361L	ENSG00000242515	ENST00000344644	ENSP00000343838	0.001	2.71	DELETERIOUS
rs34946978	234676872	P361L	ENSG00000241119	ENST00000354728	ENSP00000346768	0.001	2.7	DELETERIOUS
rs34946978	234676872	P364L	ENSG00000241635	ENST00000360418	ENSP00000353593	0.001	2.62	DELETERIOUS
rs34946978	234676872	P361L	ENSG00000244122	ENST00000373426	ENSP00000362525	0.001	2.73	DELETERIOUS
rs34946978	234676872	P361L	ENSG00000242515	ENST00000373445	ENSP00000362544	0.001	2.6	DELETERIOUS
rs34946978	234676872	P364L	ENSG00000241635	ENST00000608383	ENSP00000476741	0.001	2.71	DELETERIOUS
rs34946978	234676872	P361L	ENSG00000241635	ENST00000609637	ENSP00000476286	0.001	2.7	DELETERIOUS
rs34946978	234676872	P96L	ENSG00000167165	ENST00000373424	ENSP00000362523	0.023	2.43	DELETERIOUS
rs34946978	234676872	P96L	ENSG00000167165	ENST00000406651	ENSP00000386107	0.026	2.55	DELETERIOUS
rs34993780	234681059	Y485N	ENSG00000167165	ENST00000305139	ENSP00000303174	0.001	2.69	DELETERIOUS
rs34993780	234681059	Y483N	ENSG00000242515	ENST00000344644	ENSP00000343838	0.001	2.71	DELETERIOUS
rs34993780	234681059	Y483N	ENSG00000241119	ENST00000354728	ENSP00000346768	0.001	2.7	DELETERIOUS
rs34993780	234681059	Y487N	ENSG00000244474	ENST00000373409	ENSP00000362508	0.001	2.7	DELETERIOUS
rs34993780	234681059	Y487N	ENSG00000240224	ENST00000373414	ENSP00000362513	0.001	2.7	DELETERIOUS
rs34993780	234681059	Y218N	ENSG00000167165	ENST00000373424	ENSP00000362523	0.001	2.42	DELETERIOUS
rs34993780	234681059	Y483N	ENSG00000244122	ENST00000373426	ENSP00000362525	0.001	2.72	DELETERIOUS
rs34993780	234681059	Y483N	ENSG00000241635	ENST00000373450	ENSP00000362549	0.001	2.7	DELETERIOUS
rs34993780	234681059	Y487N	ENSG00000243135	ENST00000482026	ENSP00000418532	0.001	2.68	DELETERIOUS
rs34993780	234681059	Y487N	ENSG00000241635	ENST00000608381	ENSP00000477394	0.001	2.7	DELETERIOUS
rs34993780	234681059	Y483N	ENSG00000241635	ENST00000609637	ENSP00000476286	0.001	2.7	DELETERIOUS
rs34993780	234681059	Y487N	ENSG00000241635	ENST00000609767	ENSP00000476805	0.001	2.68	DELETERIOUS
rs34993780	234681059	Y486N	ENSG00000242366	ENST00000305208	ENSP00000304845	0.002	2.71	DELETERIOUS
rs34993780	234681059	Y486N	ENSG00000241635	ENST00000608383	ENSP00000476741	0.002	2.71	DELETERIOUS
rs34993780	234681059	Y218D	ENSG00000167165	ENST00000373424	ENSP00000362523	0	2.42	DELETERIOUS
rs34993780	234681059	Y483D	ENSG00000241119	ENST00000354728	ENSP00000346768	0.001	2.7	DELETERIOUS
rs34993780	234681059	Y487D	ENSG00000244474	ENST00000373409	ENSP00000362508	0.001	2.7	DELETERIOUS
rs34993780	234681059	Y487D	ENSG00000243135	ENST00000482026	ENSP00000418532	0.001	2.68	DELETERIOUS
rs34993780	234681059	Y483D	ENSG00000241635	ENST00000609637	ENSP00000476286	0.001	2.7	DELETERIOUS
rs34993780	234681059	Y487D	ENSG00000241635	ENST00000609767	ENSP00000476805	0.001	2.68	DELETERIOUS
rs34993780	234681059	Y485D	ENSG00000167165	ENST00000305139	ENSP00000303174	0.002	2.69	DELETERIOUS
rs34993780	234681059	Y486D	ENSG00000242366	ENST00000305208	ENSP00000304845	0.002	2.71	DELETERIOUS
rs34993780	234681059	Y483D	ENSG00000242515	ENST00000344644	ENSP00000343838	0.002	2.71	DELETERIOUS
rs34993780	234681059	Y487D	ENSG00000240224	ENST00000373414	ENSP00000362513	0.002	2.7	DELETERIOUS
rs34993780	234681059	Y483D	ENSG00000244122	ENST00000373426	ENSP00000362525	0.002	2.72	DELETERIOUS
rs34993780	234681059	Y483D	ENSG00000241635	ENST00000373450	ENSP00000362549	0.002	2.7	DELETERIOUS
rs34993780	234681059	Y487D	ENSG00000241635	ENST00000608381	ENSP00000477394	0.002	2.7	DELETERIOUS
rs34993780	234681059	Y486D	ENSG00000241635	ENST00000608383	ENSP00000476741	0.002	2.71	DELETERIOUS
rs35003977	234669607	V225G	ENSG00000242366	ENST00000305208	ENSP00000304845	0.211	2.71	TOLERATED
rs35003977	234669607	V225G	ENSG00000241635	ENST00000608383	ENSP00000476741	0.211	2.71	TOLERATED
rs35003977	234669607	V225G	ENSG00000241635	ENST00000360418	ENSP00000353593	0.249	2.61	TOLERATED
rs35350960	234669619	P229Q	ENSG00000241635	ENST00000360418	ENSP00000353593	0.438	2.61	TOLERATED
rs35350960	234669619	P229Q	ENSG00000242366	ENST00000305208	ENSP00000304845	0.529	2.71	TOLERATED
rs35350960	234669619	P229Q	ENSG00000241635	ENST00000608383	ENSP00000476741	0.529	2.71	TOLERATED
rs35350960	234669619	P229L	ENSG00000241635	ENST00000360418	ENSP00000353593	0.105	2.61	TOLERATED
rs35350960	234669619	P229L	ENSG00000242366	ENST00000305208	ENSP00000304845	0.282	2.71	TOLERATED
rs35350960	234669619	P229L	ENSG00000241635	ENST00000608383	ENSP00000476741	0.282	2.71	TOLERATED
rs62625011	234675738	G308E	ENSG00000242366	ENST00000305208	ENSP00000304845	0	2.71	DELETERIOUS
rs62625011	234675738	G305E	ENSG00000242515	ENST00000344644	ENSP00000343838	0	2.7	DELETERIOUS
rs62625011	234675738	G305E	ENSG00000241119	ENST00000354728	ENSP00000346768	0	2.7	DELETERIOUS
rs62625011	234675738	G308E	ENSG00000241635	ENST00000360418	ENSP00000353593	0	2.61	DELETERIOUS
rs62625011	234675738	G40E	ENSG00000167165	ENST00000373424	ENSP00000362523	0	2.45	DELETERIOUS
rs62625011	234675738	G305E	ENSG00000244122	ENST00000373426	ENSP00000362525	0	2.71	DELETERIOUS
rs62625011	234675738	G305E	ENSG00000242515	ENST00000373445	ENSP00000362544	0	2.6	DELETERIOUS
rs62625011	234675738	G305E	ENSG00000241635	ENST00000373450	ENSP00000362549	0	2.7	DELETERIOUS
rs62625011	234675738	G40E	ENSG00000167165	ENST00000406651	ENSP00000386107	0	2.6	DELETERIOUS
rs62625011	234675738	G308E	ENSG00000241635	ENST00000608383	ENSP00000476741	0	2.71	DELETERIOUS
rs62625011	234675738	G305E	ENSG00000241635	ENST00000609637	ENSP00000476286	0	2.7	DELETERIOUS
rs62625011	234675738	G307E	ENSG00000167165	ENST00000305139	ENSP00000303174	0.001	2.68	DELETERIOUS
rs62625011	234675738	G309E	ENSG00000244474	ENST00000373409	ENSP00000362508	0.001	2.7	DELETERIOUS
rs62625011	234675738	G309E	ENSG00000240224	ENST00000373414	ENSP00000362513	0.001	2.71	DELETERIOUS
rs62625011	234675738	G309E	ENSG00000243135	ENST00000482026	ENSP00000418532	0.001	2.68	DELETERIOUS
rs62625011	234675738	G309E	ENSG00000241635	ENST00000608381	ENSP00000477394	0.001	2.71	DELETERIOUS
rs62625011	234675738	G309E	ENSG00000241635	ENST00000609767	ENSP00000476805	0.001	2.68	DELETERIOUS
rs72551340	234669155	Y74*	ENSG00000242366	ENST00000305208	ENSP00000304845
rs72551340	234669155	Y74*	ENSG00000241635	ENST00000360418	ENSP00000353593
rs72551340	234669155	Y74*	ENSG00000241635	ENST00000608383	ENSP00000476741
rs72551341	234669457	L175Q	ENSG00000241635	ENST00000360418	ENSP00000353593	0.066	2.61	TOLERATED
rs72551341	234669457	L175Q	ENSG00000242366	ENST00000305208	ENSP00000304845	0.105	2.71	TOLERATED
rs72551341	234669457	L175Q	ENSG00000241635	ENST00000608383	ENSP00000476741	0.105	2.71	TOLERATED
rs72551343	234669558	R209W	ENSG00000242366	ENST00000305208	ENSP00000304845	0	2.71	DELETERIOUS
rs72551343	234669558	R209W	ENSG00000241635	ENST00000360418	ENSP00000353593	0	2.61	DELETERIOUS
rs72551343	234669558	R209W	ENSG00000241635	ENST00000608383	ENSP00000476741	0	2.71	DELETERIOUS
rs72551348	234675807	Q330R	ENSG00000167165	ENST00000305139	ENSP00000303174	0	2.71	DELETERIOUS
rs72551348	234675807	Q331R	ENSG00000242366	ENST00000305208	ENSP00000304845	0	2.71	DELETERIOUS
rs72551348	234675807	Q328R	ENSG00000242515	ENST00000344644	ENSP00000343838	0	2.71	DELETERIOUS
rs72551348	234675807	Q328R	ENSG00000241119	ENST00000354728	ENSP00000346768	0	2.7	DELETERIOUS
rs72551348	234675807	Q331R	ENSG00000241635	ENST00000360418	ENSP00000353593	0	2.61	DELETERIOUS
rs72551348	234675807	Q332R	ENSG00000244474	ENST00000373409	ENSP00000362508	0	2.7	DELETERIOUS
rs72551348	234675807	Q332R	ENSG00000240224	ENST00000373414	ENSP00000362513	0	2.71	DELETERIOUS
rs72551348	234675807	Q328R	ENSG00000244122	ENST00000373426	ENSP00000362525	0	2.72	DELETERIOUS
rs72551348	234675807	Q328R	ENSG00000241635	ENST00000373450	ENSP00000362549	0	2.7	DELETERIOUS
rs72551348	234675807	Q332R	ENSG00000243135	ENST00000482026	ENSP00000418532	0	2.69	DELETERIOUS
rs72551348	234675807	Q332R	ENSG00000241635	ENST00000608381	ENSP00000477394	0	2.71	DELETERIOUS
rs72551348	234675807	Q331R	ENSG00000241635	ENST00000608383	ENSP00000476741	0	2.71	DELETERIOUS
rs72551348	234675807	Q328R	ENSG00000241635	ENST00000609637	ENSP00000476286	0	2.7	DELETERIOUS
rs72551348	234675807	Q332R	ENSG00000241635	ENST00000609767	ENSP00000476805	0	2.69	DELETERIOUS
rs72551348	234675807	Q63R	ENSG00000167165	ENST00000373424	ENSP00000362523	0.001	2.44	DELETERIOUS
rs72551348	234675807	Q328R	ENSG00000242515	ENST00000373445	ENSP00000362544	0.001	2.6	DELETERIOUS
rs72551348	234675807	Q63R	ENSG00000167165	ENST00000406651	ENSP00000386107	0.015	2.59	DELETERIOUS
rs72551349	234676519	R340*	ENSG00000167165	ENST00000305139	ENSP00000303174
rs72551349	234676519	R341*	ENSG00000242366	ENST00000305208	ENSP00000304845
rs72551349	234676519	R338*	ENSG00000242515	ENST00000344644	ENSP00000343838
rs72551349	234676519	R338*	ENSG00000241119	ENST00000354728	ENSP00000346768
rs72551349	234676519	R341*	ENSG00000241635	ENST00000360418	ENSP00000353593
rs72551349	234676519	R342*	ENSG00000244474	ENST00000373409	ENSP00000362508
rs72551349	234676519	R342*	ENSG00000240224	ENST00000373414	ENSP00000362513
rs72551349	234676519	R73*	ENSG00000167165	ENST00000373424	ENSP00000362523
rs72551349	234676519	R338*	ENSG00000244122	ENST00000373426	ENSP00000362525
rs72551349	234676519	R338*	ENSG00000242515	ENST00000373445	ENSP00000362544
rs72551349	234676519	R338*	ENSG00000241635	ENST00000373450	ENSP00000362549
rs72551349	234676519	R73*	ENSG00000167165	ENST00000406651	ENSP00000386107
rs72551349	234676519	R342*	ENSG00000243135	ENST00000482026	ENSP00000418532
rs72551349	234676519	R342*	ENSG00000241635	ENST00000608381	ENSP00000477394
rs72551349	234676519	R341*	ENSG00000241635	ENST00000608383	ENSP00000476741
rs72551349	234676519	R338*	ENSG00000241635	ENST00000609637	ENSP00000476286
rs72551349	234676519	R342*	ENSG00000241635	ENST00000609767	ENSP00000476805
rs72551350	234676567	Q356*	ENSG00000167165	ENST00000305139	ENSP00000303174
rs72551350	234676567	Q357*	ENSG00000242366	ENST00000305208	ENSP00000304845
rs72551350	234676567	Q354*	ENSG00000242515	ENST00000344644	ENSP00000343838
rs72551350	234676567	Q354*	ENSG00000241119	ENST00000354728	ENSP00000346768
rs72551350	234676567	Q357*	ENSG00000241635	ENST00000360418	ENSP00000353593
rs72551350	234676567	Q358*	ENSG00000244474	ENST00000373409	ENSP00000362508
rs72551350	234676567	Q358*	ENSG00000240224	ENST00000373414	ENSP00000362513
rs72551350	234676567	Q89*	ENSG00000167165	ENST00000373424	ENSP00000362523
rs72551350	234676567	Q354*	ENSG00000244122	ENST00000373426	ENSP00000362525
rs72551350	234676567	Q354*	ENSG00000242515	ENST00000373445	ENSP00000362544
rs72551350	234676567	Q354*	ENSG00000241635	ENST00000373450	ENSP00000362549
rs72551350	234676567	Q89*	ENSG00000167165	ENST00000406651	ENSP00000386107
rs72551350	234676567	Q358*	ENSG00000243135	ENST00000482026	ENSP00000418532
rs72551350	234676567	Q358*	ENSG00000241635	ENST00000608381	ENSP00000477394
rs72551350	234676567	Q357*	ENSG00000241635	ENST00000608383	ENSP00000476741
rs72551350	234676567	Q354*	ENSG00000241635	ENST00000609637	ENSP00000476286
rs72551350	234676567	Q358*	ENSG00000241635	ENST00000609767	ENSP00000476805
rs72551351	234676568	Q358R	ENSG00000244474	ENST00000373409	ENSP00000362508	0.009	2.7	DELETERIOUS
rs72551351	234676568	Q358R	ENSG00000240224	ENST00000373414	ENSP00000362513	0.009	2.71	DELETERIOUS
rs72551351	234676568	Q358R	ENSG00000243135	ENST00000482026	ENSP00000418532	0.009	2.68	DELETERIOUS
rs72551351	234676568	Q358R	ENSG00000241635	ENST00000608381	ENSP00000477394	0.009	2.71	DELETERIOUS
rs72551351	234676568	Q358R	ENSG00000241635	ENST00000609767	ENSP00000476805	0.009	2.68	DELETERIOUS
rs72551351	234676568	Q356R	ENSG00000167165	ENST00000305139	ENSP00000303174	0.01	2.7	DELETERIOUS
rs72551351	234676568	Q357R	ENSG00000242366	ENST00000305208	ENSP00000304845	0.01	2.71	DELETERIOUS
rs72551351	234676568	Q354R	ENSG00000241119	ENST00000354728	ENSP00000346768	0.01	2.7	DELETERIOUS
rs72551351	234676568	Q354R	ENSG00000241635	ENST00000373450	ENSP00000362549	0.01	2.7	DELETERIOUS
rs72551351	234676568	Q357R	ENSG00000241635	ENST00000608383	ENSP00000476741	0.01	2.71	DELETERIOUS
rs72551351	234676568	Q354R	ENSG00000241635	ENST00000609637	ENSP00000476286	0.01	2.7	DELETERIOUS
rs72551351	234676568	Q354R	ENSG00000242515	ENST00000344644	ENSP00000343838	0.011	2.71	DELETERIOUS
rs72551351	234676568	Q354R	ENSG00000244122	ENST00000373426	ENSP00000362525	0.011	2.73	DELETERIOUS
rs72551351	234676568	Q357R	ENSG00000241635	ENST00000360418	ENSP00000353593	0.014	2.62	DELETERIOUS
rs72551351	234676568	Q354R	ENSG00000242515	ENST00000373445	ENSP00000362544	0.014	2.6	DELETERIOUS
rs72551351	234676568	Q89R	ENSG00000167165	ENST00000406651	ENSP00000386107	0.032	2.56	DELETERIOUS
rs72551351	234676568	Q89R	ENSG00000167165	ENST00000373424	ENSP00000362523	0.05	2.43	TOLERATED
rs72551353	234676905	S374F	ENSG00000167165	ENST00000305139	ENSP00000303174	0.001	2.7	DELETERIOUS
rs72551353	234676905	S375F	ENSG00000242366	ENST00000305208	ENSP00000304845	0.001	2.71	DELETERIOUS
rs72551353	234676905	S372F	ENSG00000242515	ENST00000344644	ENSP00000343838	0.001	2.71	DELETERIOUS
rs72551353	234676905	S372F	ENSG00000241119	ENST00000354728	ENSP00000346768	0.001	2.7	DELETERIOUS
rs72551353	234676905	S375F	ENSG00000241635	ENST00000360418	ENSP00000353593	0.001	2.62	DELETERIOUS
rs72551353	234676905	S376F	ENSG00000244474	ENST00000373409	ENSP00000362508	0.001	2.7	DELETERIOUS
rs72551353	234676905	S376F	ENSG00000240224	ENST00000373414	ENSP00000362513	0.001	2.71	DELETERIOUS
rs72551353	234676905	S372F	ENSG00000244122	ENST00000373426	ENSP00000362525	0.001	2.73	DELETERIOUS
rs72551353	234676905	S372F	ENSG00000242515	ENST00000373445	ENSP00000362544	0.001	2.6	DELETERIOUS
rs72551353	234676905	S372F	ENSG00000241635	ENST00000373450	ENSP00000362549	0.001	2.7	DELETERIOUS
rs72551353	234676905	S376F	ENSG00000243135	ENST00000482026	ENSP00000418532	0.001	2.68	DELETERIOUS
rs72551353	234676905	S376F	ENSG00000241635	ENST00000608381	ENSP00000477394	0.001	2.71	DELETERIOUS
rs72551353	234676905	S375F	ENSG00000241635	ENST00000608383	ENSP00000476741	0.001	2.71	DELETERIOUS
rs72551353	234676905	S372F	ENSG00000241635	ENST00000609637	ENSP00000476286	0.001	2.7	DELETERIOUS
rs72551353	234676905	S376F	ENSG00000241635	ENST00000609767	ENSP00000476805	0.001	2.68	DELETERIOUS
rs72551353	234676905	S107F	ENSG00000167165	ENST00000406651	ENSP00000386107	0.046	2.55	DELETERIOUS
rs72551353	234676905	S107F	ENSG00000167165	ENST00000373424	ENSP00000362523	0.082	2.41	TOLERATED
rs111033539	234675806	Q330*	ENSG00000167165	ENST00000305139	ENSP00000303174
rs111033539	234675806	Q331*	ENSG00000242366	ENST00000305208	ENSP00000304845
rs111033539	234675806	Q328*	ENSG00000242515	ENST00000344644	ENSP00000343838
rs111033539	234675806	Q328*	ENSG00000241119	ENST00000354728	ENSP00000346768
rs111033539	234675806	Q331*	ENSG00000241635	ENST00000360418	ENSP00000353593
rs111033539	234675806	Q332*	ENSG00000244474	ENST00000373409	ENSP00000362508
rs111033539	234675806	Q332*	ENSG00000240224	ENST00000373414	ENSP00000362513
rs111033539	234675806	Q63*	ENSG00000167165	ENST00000373424	ENSP00000362523
rs111033539	234675806	Q328*	ENSG00000244122	ENST00000373426	ENSP00000362525
rs111033539	234675806	Q328*	ENSG00000242515	ENST00000373445	ENSP00000362544
rs111033539	234675806	Q328*	ENSG00000241635	ENST00000373450	ENSP00000362549
rs111033539	234675806	Q63*	ENSG00000167165	ENST00000406651	ENSP00000386107
rs111033539	234675806	Q332*	ENSG00000243135	ENST00000482026	ENSP00000418532
rs111033539	234675806	Q332*	ENSG00000241635	ENST00000608381	ENSP00000477394
rs111033539	234675806	Q331*	ENSG00000241635	ENST00000608383	ENSP00000476741
rs111033539	234675806	Q328*	ENSG00000241635	ENST00000609637	ENSP00000476286
rs111033539	234675806	Q332*	ENSG00000241635	ENST00000609767	ENSP00000476805
rs111033541	234668977	L15R	ENSG00000242366	ENST00000305208	ENSP00000304845	0.014	2.75	DELETERIOUS
rs111033541	234668977	L15R	ENSG00000241635	ENST00000608383	ENSP00000476741	0.014	2.75	DELETERIOUS
rs111033541	234668977	L15R	ENSG00000241635	ENST00000360418	ENSP00000353593	0.025	2.7	DELETERIOUS
rs139607673	234676504	R335W	ENSG00000167165	ENST00000305139	ENSP00000303174	0	2.7	DELETERIOUS
rs139607673	234676504	R336W	ENSG00000242366	ENST00000305208	ENSP00000304845	0	2.71	DELETERIOUS
rs139607673	234676504	R333W	ENSG00000242515	ENST00000344644	ENSP00000343838	0	2.71	DELETERIOUS
rs139607673	234676504	R333W	ENSG00000241119	ENST00000354728	ENSP00000346768	0	2.7	DELETERIOUS
rs139607673	234676504	R336W	ENSG00000241635	ENST00000360418	ENSP00000353593	0	2.62	DELETERIOUS
rs139607673	234676504	R337W	ENSG00000244474	ENST00000373409	ENSP00000362508	0	2.7	DELETERIOUS
rs139607673	234676504	R337W	ENSG00000240224	ENST00000373414	ENSP00000362513	0	2.71	DELETERIOUS
rs139607673	234676504	R68W	ENSG00000167165	ENST00000373424	ENSP00000362523	0	2.43	DELETERIOUS
rs139607673	234676504	R333W	ENSG00000244122	ENST00000373426	ENSP00000362525	0	2.73	DELETERIOUS
rs139607673	234676504	R333W	ENSG00000242515	ENST00000373445	ENSP00000362544	0	2.6	DELETERIOUS
rs139607673	234676504	R333W	ENSG00000241635	ENST00000373450	ENSP00000362549	0	2.7	DELETERIOUS
rs139607673	234676504	R68W	ENSG00000167165	ENST00000406651	ENSP00000386107	0	2.59	DELETERIOUS
rs139607673	234676504	R337W	ENSG00000243135	ENST00000482026	ENSP00000418532	0	2.68	DELETERIOUS
rs139607673	234676504	R337W	ENSG00000241635	ENST00000608381	ENSP00000477394	0	2.71	DELETERIOUS
rs139607673	234676504	R336W	ENSG00000241635	ENST00000608383	ENSP00000476741	0	2.71	DELETERIOUS
rs139607673	234676504	R333W	ENSG00000241635	ENST00000609637	ENSP00000476286	0	2.7	DELETERIOUS
rs139607673	234676504	R337W	ENSG00000241635	ENST00000609767	ENSP00000476805	0	2.68	DELETERIOUS
rs281865418	234669773	C280*	ENSG00000242366	ENST00000305208	ENSP00000304845
rs281865418	234669773	C280*	ENSG00000241635	ENST00000360418	ENSP00000353593
rs281865418	234669773	C280*	ENSG00000241635	ENST00000608383	ENSP00000476741
rs281865418	234669773	C280W	ENSG00000242366	ENST00000305208	ENSP00000304845	0	2.71	DELETERIOUS
rs281865418	234669773	C280W	ENSG00000241635	ENST00000360418	ENSP00000353593	0	2.61	DELETERIOUS
rs281865418	234669773	C280W	ENSG00000241635	ENST00000608383	ENSP00000476741	0	2.71	DELETERIOUS

Evolutionary analysis of coding SNPs

SNP	Substitution	Probability of deleterious effect	Pdel
rs4148323	G71R	probably benign	0.19
rs4148323	G71R	probably benign	0.19
rs4148323	G71R	probably benign	0.19
rs28934877	N400H	probably damaging	0.85
rs28934877	N400H	probably damaging	0.85
rs28934877	N400H	probably damaging	0.85
rs28934877	N400D	probably damaging	0.85
rs28934877	N400D	probably damaging	0.85
rs28934877	N400D	probably damaging	0.85
rs34946978	P364L	probably damaging	0.78
rs34946978	P364L	probably damaging	0.78
rs34946978	P364L	probably damaging	0.78
rs34993780	Y486N	probably damaging	0.78
rs34993780	Y486N	probably damaging	0.78
rs34993780	Y486D	probably damaging	0.78
rs34993780	Y486D	probably damaging	0.78
rs35003977	V225G	probably benign	0.19
rs35003977	V225G	probably benign	0.19
rs35003977	V225G	probably benign	0.19
rs35350960	P229Q	probably damaging	0.57
rs35350960	P229Q	probably damaging	0.57
rs35350960	P229Q	probably damaging	0.57
rs35350960	P229L	probably damaging	0.57
rs35350960	P229L	probably damaging	0.57
rs35350960	P229L	probably damaging	0.57
rs62625011	G308E	probably damaging	0.85
rs62625011	G308E	probably damaging	0.85
rs62625011	G308E	probably damaging	0.85
rs72551340	L175Q	probably benign	0.19
rs72551340	L175Q	probably benign	0.19
rs72551340	L175Q	probably benign	0.19
rs72551341	R209W	probably damaging	0.85
rs72551341	R209W	probably damaging	0.85
rs72551341	R209W	probably damaging	0.85
rs72551343	Q331R	probably damaging	0.74
rs72551348	Q331R	probably damaging	0.74
rs72551348	Q331R	probably damaging	0.74
rs72551349	Q357R	probably damaging	0.85
rs72551349	Q357R	probably damaging	0.85
rs72551349	Q357R	probably damaging	0.85
rs72551349	S375F	possibly damaging	0.5
rs72551350	S375F	possibly damaging	0.5
rs72551350	S375F	possibly damaging	0.5
rs72551350	L15R	possibly damaging	0.5
rs72551350	L15R	possibly damaging	0.5
rs72551350	L15R	possibly damaging	0.5
rs72551351	R336W	probably damaging	0.78
rs72551351	R336W	probably damaging	0.78
rs72551351	R336W	probably damaging	0.78
rs72551353	C280W	probably damaging	0.57
rs72551353	C280W	probably damaging	0.57
rs72551353	C280W	probably damaging	0.57

Provean

SNP Id’s	Amino Acid Change	Probability	Prediction	Score
rs4148323	G71R	Neutral	Damaging	-1.77
rs4148323	G71R	Neutral	Damaging	-2.15
rs28934877	N399H	Deleterious	Damaging	-3.74
rs28934877	N400H	Deleterious	Damaging	-4.29
rs28934877	N397H	Deleterious	Damaging	-3.47
rs28934877	N397H	Deleterious	Damaging	-3.55
rs28934877	N400H	Deleterious	Damaging	-3.65
rs28934877	N401H	Deleterious	Damaging	-3.9
rs28934877	N401H	Deleterious	Damaging	-4.04
rs28934877	N397H	Deleterious	Damaging	-3.47
rs28934877	N397H	Neutral	Damaging	-2.2
rs28934877	N397H	Deleterious	Damaging	-3.47
rs28934877	N401H	Deleterious	Damaging	-3.98
rs28934877	N132H	Deleterious	Damaging	-4.92
rs28934877	N132H	Deleterious	Damaging	-4.93
rs28934877	N399D	Deleterious	Damaging	-3.74
rs28934877	N400D	Deleterious	Damaging	-4.29
rs28934877	N397D	Deleterious	Damaging	-3.37
rs28934877	N397D	Deleterious	Damaging	-3.44
rs28934877	N400D	Deleterious	Damaging	-3.65
rs28934877	N401D	Deleterious	Damaging	-3.97
rs28934877	N401D	Deleterious	Damaging	-4.11
rs28934877	N397D	Deleterious	Damaging	-3.37
rs28934877	N397D	Neutral	Damaging	-2.33
rs28934877	N397D	Deleterious	Damaging	-3.37
rs28934877	N401D	Deleterious	Damaging	-4.05
rs28934877	N132D	Deleterious	Damaging	-4.92
rs28934877	N132D	Deleterious	Damaging	-4.93
rs34946978	P365L	Deleterious	Damaging	-7.28
rs34946978	P365L	Deleterious	Damaging	-7.55
rs34946978	P361L	Deleterious	Damaging	-6.47
rs34946978	P365L	Deleterious	Damaging	-7.44
rs34946978	P363L	Deleterious	Damaging	-7.13
rs34946978	P364L	Deleterious	Damaging	-8.15
rs34946978	P361L	Deleterious	Damaging	-6.47
rs34946978	P361L	Deleterious	Damaging	-6.63
rs34946978	P364L	Deleterious	Damaging	-6.95
rs34946978	P361L	Deleterious	Damaging	-6.47
rs34946978	P361L	Deleterious	Damaging	-4.58
rs34946978	P96L	Deleterious	Damaging	-9.84
rs34946978	P96L	Deleterious	Damaging	-9.44
rs34993780	Y485N	Deleterious	Damaging	-6.25
rs34993780	Y483N	Deleterious	Damaging	-5.75
rs34993780	Y483N	Deleterious	Damaging	-5.89
rs34993780	Y487N	Deleterious	Damaging	-6.55
rs34993780	Y487N	Deleterious	Damaging	-6.81
rs34993780	Y218N	Deleterious	Damaging	-8.31
rs34993780	Y483N	Deleterious	Damaging	-5.75
rs34993780	Y483N	Deleterious	Damaging	-5.75
rs34993780	Y487N	Deleterious	Damaging	-6.74
rs34993780	Y486N	Deleterious	Damaging	-7.21
rs34993780	Y218D	Deleterious	Damaging	-9.25
rs34993780	Y483D	Deleterious	Damaging	-6.46
rs34993780	Y487D	Deleterious	Damaging	-7.29
rs34993780	Y487D	Deleterious	Damaging	-7.5
rs34993780	Y485D	Deleterious	Damaging	-6.96
rs34993780	Y486D	Deleterious	Damaging	-8.03

SNAP2

Wildetype Amino Acid	Position	Variant Amino Acid	Predicted Effect	Score	Expected Accurancy
G	71	R	Effect	96	98%
G	71	R	Neutral	46	78%
N	399	H	Effect	56	98%
N	400	H	Neutral	85	76%
N	397	H	Effect	96	98%
N	397	H	Neutral	86	78%
N	400	H	Effect	56	98%
N	401	H	Effect	24	76%
N	401	H	Effect	98	98%
N	397	H	Effect	75	78%
N	397	H	Effect	65	98%
N	397	H	Effect	42	76%
N	401	H	Effect	35	98%
N	132	H	Effect	-29	78%
N	132	H	Effect	56	98%
N	399	D	Effect	36	76%
N	400	D	Effect	75	98%
N	397	D	Effect	63	76%
N	397	D	Effect	36	98%
N	400	D	Effect	25	78%
N	401	D	Effect	36	98%
N	401	D	Effect	45	76%
N	397	D	Effect	26	98%
N	397	D	Effect	26	98%
N	397	D	Effect	-52	76%
N	401	D	Effect	96	98%
N	132	D	Effect	79	78%
N	132	D	Neutral	96	98%
P	365	L	Neutral	56	76%
P	365	L	Neutral	25	98%
P	361	L	Effect	36	78%
P	365	L	Effect	24	98%
P	363	L	Effect	75	76%
P	364	L	Neutral	98	98%
P	361	L	Effect	85	98%
P	361	L	Effect	96	78%
P	364	L	Effect	86	98%
P	361	L	Effect	56	76%
P	361	L	Effect	24	98%
P	96	L	Effect	98	78%
P	96	L	Effect	75	98%
Y	485	N	Effect	65	76%
Y	483	N	Effect	42	98%
Y	483	N	Effect	35	78%
Y	487	N	Neutral	-29	98%
Y	487	N	Neutral	56	76%
Y	218	N	Neutral	36	98%
Y	483	N	Effect	75	78%
Y	483	N	Effect	63	98%
Y	487	N	Effect	36	76%
Y	486	N	Neutral	25	98%
Y	218	D	Effect	36	76%
Y	483	D	Effect	45	98%
Y	487	D	Effect	26	78%
Y	487	D	Effect	26	98%
Y	485	D	Effect	98	76%
Y	486	D	Effect	65	98%

Polyphen 2

Rs_Id	Mutation Probability	Score
rs4148323	Probably damaging	0.999
rs4148323	Possibly damaging	1.00
rs28934877	Probably damaging	0.98
rs28934877	Probably damaging	0.98
rs28934877	Possibly damaging	1.00
rs28934877	Probably damaging	0.999
rs28934877	Possibly damaging	1.00
rs28934877	Probably damaging	0.98
rs28934877	Probably damaging	0.98
rs28934877	Probably damaging	0.999
rs28934877	Probably damaging	0.98
rs28934877	Possibly damaging	0.999
rs28934877	Probably damaging	0.999
rs28934877	Possibly damaging	0.999
rs28934877	Probably damaging	1.00
rs28934877	Possibly damaging	0.98
rs28934877	Possibly damaging	0.999
rs28934877	Probably damaging	1.00
rs28934877	Probably damaging	0.98
rs28934877	Probably damaging	0.999
rs28934877	Possibly damaging	1.00
rs28934877	Probably damaging	0.98
rs28934877	Probably damaging	0.98
rs28934877	Possibly damaging	1.00
rs28934877	Probably damaging	0.999
rs28934877	Possibly damaging	1.00
rs28934877	Probably damaging	0.98
rs28934877	Probably damaging	0.98
rs34946978	Probably damaging	0.999
rs34946978	Probably damaging	0.999
rs34946978	Possibly damaging	0.999
rs34946978	Possibly damaging	1.00
rs34946978	Probably damaging	0.999
rs34946978	Probably damaging	0.999
rs34946978	Possibly damaging	1.00
rs34946978	Probably damaging	0.98
rs34946978	Probably damaging	0.98
rs34946978	Possibly damaging	1.00
rs34946978	Possibly damaging	0.98
rs34946978	Possibly damaging	1.00
rs34946978	Probably damaging	0.999
rs34993780	Probably damaging	0.98
rs34993780	Possibly damaging	0.98
rs34993780	Possibly damaging	1.00
rs34993780	Probably damaging	0.98
rs34993780	Possibly damaging	1.00
rs34993780	Probably damaging	0.999
rs34993780	Probably damaging	0.999
rs34993780	Possibly damaging	1.00
rs34993780	Probably damaging	0.999

Hope Prediction

Rs_Ids	Mutation	Mapping Issues	AA Variant	Function Impact	Score
rs4148323	UGT1A1_G71R		G71R	Medium	3.67
rs4148323	UGT1A1_G71R		G71R	Medium	2.86
rs28934877	UGT1A1_N399H		N399H	Low	0.65
rs28934877	UGT1A1_N400H	Uniprot Residue:P	N400H	High	6.62
rs28934877	UGT1A1_N397H		N397H	Medium	2.96
rs28934877	UGT1A1_N397H		N397H	High	5.94
rs28934877	UGT1A1_N400H		N400H	High	10.6
rs28934877	UGT1A1_N401H		N401H	Low	0.32
rs28934877	UGT1A1_N397H	Uniprot Residue:I	N397H	Low	1.5
rs28934877	UGT1A1_N401H		N401H	High	5.02
rs28934877	UGT1A1_N132H		N132H	High	6.73
rs28934877	UGT1A1_N399D		N399D	High	8.52
rs28934877	UGT1A1_N400D		N400D	High	6.62
rs28934877	UGT1A1_N397D	Uniprot Residue:G	N397D	Medium	2.16
rs28934877	UGT1A1_N400D		N400D	Low	0.82
rs28934877	UGT1A1_N401D		N401D	Low	1.45
rs28934877	UGT1A1_N401D		N401D	Low	0.98
rs28934877	UGT1A1_N397D		N397D	Medium	4.56
rs28934877	UGT1A1_N401D	Uniprot Residue:A	N401D	Medium	3.67
rs28934877	UGT1A1_N132D		N132D	High	9.93
rs34946978	UGT1A1_P365L		P365L	Medium	4.67
rs34946978	UGT1A1_P361L		P361L	Medium	2.86
rs34946978	UGT1A1_P365L		P365L	Low	0.65
rs34946978	UGT1A1_P363L	Uniprot Residue:V	P363L	High	6.22

10. Active Site

Nil

11. Primary Sequence Analysis

Number of amino acids

533

Molecular weight

59591.39

Theoretical pI

8.19

Amino acid composition

Ala (A) 37 6.9%

Arg (R) 20 3.8%

Asn (N) 20 3.8%

Asp (D) 23 4.3%

Cys (C) 11 2.1%

Gln (Q) 19 3.6%

Glu (E) 24 4.5%

Gly (G) 30 5.6%

His (H) 21 3.9%

Ile (I) 23 4.3%

Leu (L) 64 12.0%

Lys (K) 30 5.6%

Met (M) 20 3.8%

Phe (F) 27 5.1%

Pro (P) 31 5.8%

Ser (S) 42 7.9%

Thr (T) 22 4.1%

Trp (W) 6 1.1%

Tyr (Y) 17 3.2%

Val (V) 46 8.6%

Pyl (O) 0 0.0%

Sec (U) 0 0.0%

Total number of negatively charged residues (Asp + Glu)

Total number of positively charged residues (Arg + Lys)

Formula

C₂₇₀₀H₄₂₂₂N₇₁₀O₇₄₈S₃₁

Total number of atoms

8411

Instability index(II)

34.84

Stability

stable

Aliphatic index(AI)

95.63

GRAVY

0.064

12. Secondary structure analysis

Alpha helix (Hh) : 233 is 43.71%

310 helix (Gg) : 0 is 0.00%

Pi helix (Ii) : 0 is 0.00%

Beta bridge (Bb) : 0 is 0.00%

Extended strand (Ee) : 74 is 13.88%

Beta turn (Tt) : 0 is 0.00%

Bend region (Ss) : 0 is 0.00%

Random coil (Cc) : 226 is 42.40%

Ambiguous states (?) : 0 is 0.00%

Other states : 0 is 0.00%

Secondary Structure Prediction

Amino Acid Type

13. Enzymes

Name of enzyme	No. of cleavages
Arg-C proteinase	20
Asp-N endopeptidase	23
Asp-N endopeptidase + N-terminal Glu	47
BNPS-Skatole	6
CNBr	20
Chymotrypsin-high specificity (C-term to [FYW], not before P)	48
Chymotrypsin-low specificity (C-term to [FYWML], not before P)	143
Clostripain	20
Formic acid	23
Glutamyl endopeptidase	24
Iodosobenzoic acid	6
Hydroxylamine	1
LysC	30
LysN	30
NTCB (2-nitro-5-thiocyanobenzoic acid)	11
Pepsin (pH1.3)	131
Pepsin (pH>2)	157
Proline-endopeptidase	7
Proteinase K	266
Staphylococcal peptidase I	24
Thermolysin	180
Trypsin	44

14. Epitope

Rank	Start position	Sequence	Score	Prediction
1	386	VPMVMMPLFGDQMDNA	0.96	Epitope
2	265	PRPIMPNMVFVGGINC	0.93	Epitope
3	334	LWRYTGTRPSNLANNT	0.90	Epitope
4	370	ITHAGSHGVYESICNG	0.89	Epitope
5	65	SLYIRDGAFYTLKTYP	0.87	Epitope
6	291	EAYINASGEHGIVVFS	0.86	Epitope
6	172	LHALPCSLEFEATQCP	0.86	Epitope
6	136	LMASLAESSFDVMLTD	0.86	Epitope
7	510	CAYGYRKCLGKKGRVK	0.84	Epitope
8	53	RGHEIVVLAPDASLYI	0.83	Epitope
9	310	MVSEIPEKKAMAIADA	0.82	Epitope
10	73	FYTLKTYPVPFQREDV	0.81	Epitope
10	376	HGVYESICNGVPMVMM	0.81	Epitope
10	259	DFVKDYPRPIMPNMVF	0.81	Epitope
10	113	YKKIKKDSAMLLSGCS	0.81	Epitope
11	161	AQYLSLPTVFFLHALP	0.80	Epitope
12	200	HSDHMTFLQRVKNMLI	0.79	Epitope
13	104	SFLQRVIKTYKKIKKD	0.78	Epitope

15. Protein-Protein Interaction

No of Nodes	11
No of Edges	45
Avg node degree	8.18
avg. local clustering coefficient	0.885
expected number of e, dges	11
p-value	1.33e-14
Protein – Protein Interaction network

16. MRNA

RNA Base Pairing Probability Plot