IGDRPT (Indian Genetic Disease Risk Prediction Tool)

Disease Name: Allgrove syndrome

1 .Inheritance

Autosomal Recessive

2. Gene Name

AAAS

3. Protein Name

Aladin

4. Chromosomal Location

12q13

5. Protein Sequence

>sp|Q9NRG9|AAAS_HUMAN Aladin OS=Homo sapiens OX=9606 GN=AAAS PE=1 SV=1

MCSLGLFPPPPPRGQVTLYEHNNELVTGSSYESPPPDFRGQWINLPVLQLTKDPLKTPGR

LDHGTRTAFIHHREQVWKRCINIWRDVGLFGVLNEIANSEEEVFEWVKTASGWALALCRW

ASSLHGSLFPHLSLRSEDLIAEFAQVTNWSSCCLRVFAWHPHTNKFAVALLDDSVRVYNA

SSTIVPSLKHRLQRNVASLAWKPLSASVLAVACQSCILIWTLDPTSLSTRPSSGCAQVLS

HPGHTPVTSLAWAPSGGRLLSASPVDAAIRVWDVSTETCVPLPWFRGGGVTNLLWSPDGS

KILATTPSAVFRVWEAQMWTCERWPTLSGRCQTGCWSPDGSRLLFTVLGEPLIYSLSFPE

RCGEGKGCVGGAKSATIVADLSETTIQTPDGEERLGGEAHSMVWDPSGERLAVLMKGKPR

VQDGKPVILLFRTRNSPVFELLPCGIIQGEPGAQPQLITFHPSFNKGALLSVGWSTGRIA

HIPLYFVNAQFPRFSPVLGRAQEPPAGGGGSIHDLPLFTETSPTSAPWDPLPGPPPVLPH

SPHSHL

6. Gene Sequence

>NC_000012.11:c53718648-53701240 Homo sapiens chromosome 12, GRCh37.p13 Primary Assembly

CTGGGTGAGCGCGCCGGGCCTGGACTTGGGCCTTTCTAGAACCCGCAAATGGTGAAAAGCGTTCCACAAA

CGTTAAATAAGCAGTATGGAGGAGGGGACAGTACTTGTGCCAGGCCAGGGCGGGGGCAGCGGGCGGAACA

GCACTGTTCCTTCTCTCCAGTTCACCTTACAGGGTAAGAAGCAGGCACCTAACCGATCATTATAACCTGA

TGGTGAAAATCGAGGTTTCATCGAAGGATGCAAGTTGCAGGCCGGAGTGATTTTTCCTAGGGGTATCTGG

GTTTGGATGGTGTTACGACTAAGGTACAAACGGAAACTATCGTGGGTCCTCAGTGCTCTCCACTAATCTG

TCAGTCACCGACTTCCTCTCCCTCAAACCTGCCCACTTCCCCTTCTCAGGGAGGCTTTCCCAGCCAGGTT

CCCCAAACCATCCCCAGTGTATACCTTATGTTCTTCAAGCTTTCTGTGACTTCCCAGGTGACGGTGAACT

CACATAGGAAATTAAATGGGGCTATGGGAAAAGGTTAGAGCAGGGGTCGCGCCACGGCCCGTCGTGTCGG

TGGCCTGTAAAGGAACCGCACAGCCGGAGACGAGCTGAGCAAGCTGAGCTCCGCCTCCTGTCAGATCAGC

GGCATTAGATTCTCATAGTAGCGCGAACTCTGTTGTGAACTGCGCACGTGAAGGACCTAGGTTGCCCGCT

TTTTATGAGAATCCAACTAATGCCTGATGATCTCAGGTGTAACAGTTTCATCCCCAAACCATTCCCTCCC

CCGCTCCCCCTGGAAAAACTGTCTTCCACTAAACCTGGTGCCAAAAAGTTGGGGACCGCTAGGTTAGAGC

CTTGCTACTTAAAATGTGGTCTGTGCAGTATCAGCTGGGGATTCTTTGGAACTATAGCCTCTGAGCGCCA

CCTTAGGAGATGCTCAGGTGATTCCTATGTCCCTTAACAGTTGAGAAGTACTAGATTAGAGGAGATCCAC

TTGCCTTCTCAGGTGAAGTGCATTTTCAGGAGACTCTGGAGCCCTTTGTTTTCTGACCTGGTAATAACTC

TCTTGGGGGGAATTTTTCAGGTGAAAAAGAAGGGCAGACACGGAATCCAGAATACTAGAACTAAATGCCC

CCTAGATTATTCAATGAGACTGGTAGCTCTTGGGAGTGGGGACAGCCTTCTACATCTTCAAATCACTTAA

CATTTGTTAATGAACTCTGACCAAGGTCACCTAGTTGATGGCACAGTTATAGCTATTAACCTCTGACATT

TGTTTAGCACTTTAAAATTTATTAAATAGCTTCATTTTATTATTTTGTATGGAAAACAACCATATGAAAT

AATTAGGACACTGCAAATGAGAAAAGTGAGACTCAAAGAATTCAATGTTTTTTCCAAAGTCTGTAAGAGG

GGCCCCCATTCTCTTTCTTTCTTTCCTTTCTTTCTCCCTCTCCCTTCCCTCCCATTTTTTTTTGTTTTGT

TTTGTTTTTTGTTTTTTTTTTTTTTTGAGACGGAGTTTCGCTCTTGTTGCCCAGGTTGGATGGAGTGCAG

TGGCGCGATCTCTGCTCACTGCAACCTCCGCCTTCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGA

GTAGCTGGGATTACAGGCATGCACCACAATGCCTGGCTGGTTTTGTATTTTTTAGTAGAGATGGGGTTTC

TCCATGTTGGTCAGGCTGGTCTCGAAATCCCGACCTCAGGGGATCAGCCCACCTCAGCTTCCCAAAGTGC

TGGGATTACAGGCGTGAGCCACCGCGCCCGGCTCTTTCTCTCTGGCTTGCTTGACAGGGTCTCGCTCTTT

GACCCAGGCTGGAGTGCAGTGGTGCTATCTTGGATCATTGTAGTCTGGATTCTCCTATCTCAGCCTTCTG

AGTAGCTGGACTAAAGACGCTTGCCACCACCACGCTGGCTAACTTTTGAATTTTTTGTAGATACAGGGTC

TTGCTATTTTGCCCAAGCTGGTCTTGAACTCCTGGGCTCAAGAGATCAGCCTCGGCCTCCCAAAGTGCTG

GGATTACAGGTGTGAGCTACCACACCCAGCCTTACTTTTATTCTTAAGTGAGAATAACTGGTTTGGGTGT

ATCTAGGTCCAATCTCTCTGTGACTCACTTTCCTCATGGTGACAGAACAGCACCCACCTTATGGGGTTGT

AAAGATTATAAAAGCACTTATCGTAACAAGTGCTCAGGAAATAGTTTTGCAGCCCGGCAAGGTGGCTCAG

GCCTGTAATCCCAGCAATTTGGGAGGCCAAAGCAGGCAGATCACTTGAGGTCAGGAGTTTGAGACCAGCC

TGGCCAACATGGTAAAACCTCGTCTCTACTAAAAATACAAACTTAGCTGGGCGTGGTGAAGCATGCCTGT

AATCCCAGCTACTCCAGAGGTTGAGGCAGGATAATCGCTTGAACCGGGGAGGCAGAGGTTGCAGTGAGCT

GAGATAGCACCACTGCCTTCATCCTGGGCAATAGAGCGAGACCCTGTCTCTCAAAAAAATAAAATAAAAT

AAAGTTTTCCTTTTTGAGACGAAGTTTCCCTCTTGTTACCCAGGCTGGAGTGCAATGGTGCGATCTTGGC

TCACTGCAACCTCCCCCTCCGGAGTTCAAGAGATTCTCCTGCCTCAGCCTCCCGATTAGCTGGGATTACA

GGTGCCCGCCACCACGCCCGACTAATTTTTGTATTTTTAGTATAGATGGGGTTTTCAGCATGTTGGCCAG

GCTAGTCTGCGAACTCCTTTCAGATGATCCACCCACCTCGACCTCCCAAAGTGCTGGGATTACAGGCGTG

AGCCACCGCGCCTGGCAGGAAATGTTAGTTTTCCAACCGTCCCCACCTCCCTTTCCAGGACGCCTAACCG

TGTGGGTGCAGCACTGTTCCTCCTCTCTGAGGCTTTTCCCTCAGCTTTCCAGCCAGCTGCCTGTGACATA

GCCTGTATTTTCCTCTGGGTGATCCACAGGCCTGGGAGGATTAATTTGGTACTTCCCTGAATGTGGCTTA

TTTCGGGCTTTCTAAGCGCTAAGATAGTGAGTGGGAGAAGGTGTTCGGGAATTCGGAGCTGGGAAAAACA

GTAGTCTCATGGAAAACAACAGAAAAAAACCCCACTCCAGCCTGGTAACCAACGGTTGGCCGGGGGACGT

GTCCGCGCTGCTCCCCCTCCGGCCGCCAGGGGGCGCAGGAAGAAGCTTTGGAGGTCTGTCCCGGGACCGC

GTACTCGTCCTTCTTTCCCGTTAGTCTTTTCTTCACTTCCGTTGAGTTCCGCCTCGCCGTTTGTCCCTTG

CGGTACCCGTCCGCATACGAATCTAGCCCGGGAACCGAGTTGCGGGAGTGCGGTCTGTGCCGTTCCGGCC

AGGAGTTTGCCGACTGCAGACGTCCTGCGAACCGGCAAGATGTGCTCTCTGGGGTTGTTCCCTCCTCCAC

CGCCTCGGGGTCAAGTCACCCTATATGAGCACAATAACGAGCTGGTGACGGGCAGTAGCTATGAGAGCCC

GCCCCCCGACTTCCGGGGCCAGGTGGCCAGGGCGAGGAGGGAGGGGACCTACAGGCATGGGGGCGGAGTC

GGGGACTACTGGGGAAAGGAGGCAGTGTGACAGGGGCAGGGTCACAGAGTCTGGCGGAGTGGAAACAGCT

TGGCCCCGGCAGGAGGCTAGAAGGGCTGGAATCTGTTTTAGGACTGGGATTGGAGTATAACGGGGGAACG

GTTAAGGAGCTGTGGAGGAGGCCTAGAGGGAATGGAGAGAATGAGGGAGAATCTAGGGAGTGTGAGGATG

CGGGAGAACTATCTAAAAGTTGGGGACAGTATCTGGGGAGGATCAGAAGGATACAACATGGAACTTTTTT

CCATGGTGTTCCTGGGAAGGACAAGGAAGGGAAACTGACATTTATTGAGCGTTTGCTATGTAAGAAAGAG

GCTGAGTCAGGTGTTTTCTAAAAATGTCATATGGTTTCATAATCACAGCAACCCTATGAAATATTATTCT

AGTTGCACAGATACGGGAGCTAAGACTTGTTTCCCATTCTCACAAGTGTTAGCTTTGTGGAAATGGGAAA

CAGACCTCTGGAATCTCTTATACTTAGCCCAGCGGTGGGTTGGAGATGGCACGGAATTAAAGATTTGGGA

AGAGACTGAATCACCGTCACACTCCTCACTTTTGTGCTATAGTGGATCAATCTTCCTGTCCTACAACTGA

CAAAGGATCCCCTAAAGACCCCTGGAAGGCTGGACCATGGCACAAGAACTGCCTTCATCCATCACCGGGA

GCAAGTGTGGAAGAGATGCATCAACATTTGGTGAGGCATGGCAAAGGGTTTCCTGGGTCACAGTCTGCAG

ATCCTGGAAAATGAGTCAACACCCCTTTACCTTGGGGTGTTCTTCAAAAGACTTTTATTCAGGCTGTCTC

CACGAGAGCTGTATATCCTAAATCATATGAAATTTTTAGTCCTTATTATAGAACTCAAATGCTCAATAAA

TGTCAGGTTCCCTTCCTTGCCCTTCCCAGGAACACTATGGAAAAAGTACTTCCATTTCATCTCTAGTAAC

TTGCCTTGCTTTCTGGCTTGATTAGGTGAACCTGCTCCCTGCCCCCACCTCATGGCATTACCACTTCTGA

GCTTTTACCTGAAGCTCAGCAAGATCAGATATAAGGTTGCACTGAATAATCTCCTACATAGGTCATCCAC

TTTGCACTTGTAGGAGTGGAGCTACACTACCTGGTTTCATTTTCTTTTTTTTTTTTGAGATGGAGTTTCA

CTCTTGTTGCCCAGGCTGGAGTGCAGTGGCGTGCTCAGCTCACTGCAACTTCCACCTCCCAGGTTCAAGC

GATTCTTCTGCCTCAGTCTCCCGAGTAGCTAGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGT

ATTTTTAGTAGAGACAGGGTTTCTCCATGTTGGTCAGGCTGGTCTTGAACTTCCGACCTCAGATGATGTG

CCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCTCATTTTCTTTTTCT

TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTGTGTTGCCAGGCTGGAGTGCAGAGGTGCGATC

TCGGCTCACTGCAGCCTCCGCCTCTCTGGTTCAAGCAGTTCCCCTGCCTCAGCCTCCCGAGTAGCTGGTA

CTATAGGCATGTGCCACCACGCCCAGCTAACTTTTTGTATTTTAGTAGAGATGAGATTTCACCATGTTGG

CCAGGGTGGTCTGGCCTCCTGACCTCAGGCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACAGCTACTGC

ACCTGGACCTATTAATGGCACATATTAATTCCTTTAAGGGTTATTTATGCCAGGCACAGTGACTCACGCC

TATAATCCCAGCGCTTTGGTAGGCTGAGGCCAGCAGATTGCTTGAGCTTAGTAGTTTGAGACTAGCCTGG

GGAACATGGCGAAACCATGTTCTTTTCTCTACAAGAAAAGTACAAAAATTAGCTGGGTATGGTGGCATGC

ACCTTTATTCCCAGCTACTTGGGAGGCTTATGTATAGGAGGATCACTTGAGCCTGGGAGGTGGAGGTTGT

AGTGAGCCAAGATTGTGCCAGTGCAGTGGCACTGAGTGAGACCTTGTCTCAAAAAAAAAAAAAGGGTTAC

TTAATATTTTTATTAATACCATTACCATTTGTAGGATAAATTCCTAGAAATTAAGTTGCTGGCTCAGAGG

GTATGTTCATCTGTAATTTTGTGAGCTGTTCCAAATAGCCCTCTGTCAAAATGGTACATGTATATGGTCC

CACCAGCAGTGTATGGGAGTGCCTGTTTTCCAACACATGTGCTGTCAAGCTTTGATCTTTGGTACTTCAG

TACAGTTTAATGGGCATGCCTGTGTGTGTGAAGTTGAATATCAGTTTGTTGAAAAGCCATTCATTCCCAG

GCTCCTTGTCTCCTACTTCTGTGGCTGCTGCTTCTCAGGGTTTTTGGTGGCTCCTCTTCCTGATGTCCCT

TAAATGTTGGTGTTCTTGGGGCTAGATTTCCAGTTGATGCATCAGACCTGGTGTTCACGTGTTTGCCAAA

TTATCCTGCTTGAATATTTCGCAGACTTCATATATTCAGCATGCTCAAATCCAGTCTCTTTATTTCTCTC

TCCAAATCTGCTTCTCTGGATGGTTCACTTTAAGGAATGATCATATTACTCATTCAGGAAAAAGTGGTTT

GAGTATAGGTTCTGGGGTAGATAGATGGTTGAATCCTGACTGCTACTTTCTACTTAGATTACCTTGTTCA

TATTAATTAGCCTCTTCACACCTTTGTTCTCTCATCTAAAAATGCAGTGATAGTCTGGGCGCGGAAGCTC

ATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGTATCACTTGAGGTCAGGAGTTCGAGACCAG

CCTGGCCAATGTGGTGAAACTCCGTGTGTAATCCTAATTACTCAGGAGGCTGAGGTGCAAGAATTGCTTG

CACCCAGGAGGTAGAGGTTGCAGTGAGCCGAGTTCACACCACTGCACTCCAGCCTGGGTGACAGAGTGAG

ACTCCGTCTTAACACACACACACACACACACACACACACGCACACACACACACACACACACTGAAACCCC

ATCTCTACAAAAAATTTAAAAATTAGCTGGGCATGATGGTGTGCACCCGTAGTCTCAGCTCCTCGGGAGG

CCGAGGCAAGAATACCTGAGCTCAGGAGATTGAGGCTGCAGCGAGCCGTGATGGTGATATTGCACTCCAG

CCTGGGTCACAGAGCAAGACCCTGTCTCAATAAAATAAAAATAAATGCAGTGATAACAATACCTATCTTG

TAGGATTGTCATAATGGCTTGATTAGTTAATGTGAGGCACCTAGTCCAGAGCTGGCACATTGTAAGCATA

TTAGCTGATGTAATTATTACCTAGGTGTTTCTGTTGTATTGCTCTTTCCTTTACTAATGTCTGATTAGTC

TTCACATCTTGTTTATGCTAATTCCTAAATCTCTCAAATCTGTCTCTTTTTCTTCATCCCCACCAGTTCA

GGCCACTTTCACCTTTTTCCTAGGTTCCTGAAGTAGATTCTTTTTTTTTTTTTGAGACAGAGTCTCACTT

TGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCAGCTCGCTGCAACCTCCGCCTCCTGGGTTCAAGCAA

TTCTTCTGCCTCAGCCTCTGAGTAGCTGGGACTACAGGTGCACACCACCACGCCTGGTTAATTTTTGTTT

TGTTTTATTTTTTTGGTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGG

CACGATCTCGGCTCACTGCAAGCTTCGCCTCCCGAGTTCACTCCATTCTCGTGCCTCAGCCTCCCGAGTA

GCTGGGACTACAGGCGCCCACCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCAC

CGTGTTAGCCAGGATGGTCTTGATCTCTTGACCTTGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGG

ATTACAGGTGTGAGCCACCGCACCTGGCCAATTTTTGTATTTTTAATAGAGATGAGGTTTCACCATCTTG

ACCAGGCTGGTCTCGAACTCCTGACCTCGTGATCCACCTGCCTTGGCCTCCCAGCGTGCTGGGATTACAG

GTGTGAGCCACCGCACCCGGCCCTGAAGTAGATTCTTAACTGATTTATTTTTCTCTATTATTATTATTAT

TTTTTGAGACAGCATCTTGCTCTGTTGCCCAGTGTGGAGTGCAGTGGCGCAAACATGGAACACGGCTCAC

TGCATTGTCAGCCCCCAGGGCTCAAGTGATGCTCCTTCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCA

TGTGCCACCACACCTGCCTAAGTTTTGTATTTTTTTTTGTAGAGACAGCATTTCCCTATGTTGCCTAGGC

TGGTCTCAAGCTCTTGAGCTCAGGCGATCCACCTGCCTTGGCCTCCCAAAGTGCTAGGGTTGAGCCACTG

CACCTGGACTTTTTCTATTTTTTCTCTTCTTTTTTTTTTTTTTTTTTTTTGTCTGAGATGGAGTCTTGCT

CTGTTGCCCAGGCTGGAGTGTGGTGGCACGATGTTGGCTCACTGCAATCGCCACCTCCCGGGTTCAGGCG

ATTCTCCTGCCTCAGCCTATGGAGTAGCTGGGATTATAGGCATGGACCACCACACCTGGCTAATTTTCAT

ATTTTTCAACATGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCACCTT

GGCCTCCCAAAGTGCTGTGATTACAGGTGTGAGCCACCGCGCCTGGCCTTTTCTATTCTTTTTTTTTTTT

CTTCTTTTTTGAGGCAGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTTACTG

CAGCCTCCGCTTCCTGGGTTCAAGTGATTCTCCTGCCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAG

GTACGCACCACCACACCTGGCTAATTTCTGCATTTTTAGTAGAGACGGGGTTTTACCATGTTGGCCAGGA

TGGTCTCAGTTTCCTGACCTCGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTATAGGCGTGAG

CCACCACAGCCAGCCTGGCCTTTTCTATTCTTATCACTCTCTAATCTGCAGCCAGACTGCTCTTTCTAAA

ATGCTGCTGTGTGATCTGTTTATTCTTCTCCTTAGAACCCTTCCATGGCTTTCCATTCATTGTCTTAGAG

CAAGTCCCAACTCCTTAACCTGCTCACAAAGCCCCAAAAGTCCTCTGAGCCTTGGTTGTCTCATCCGTAA

ATGGGTAGAATCTCGTTCAGATTTGTGAGATATGTAAATGAAAGGACAGCCCGTAGAGTGCCTGGTACAT

AGTTGGCACTCATTAAATGTGAGTGCCCATATTTTTAATACATGTATATTGAATGAATGAAACTGGTAGA

GAGGGACAGAGGGGATCAGAGTAAGCTGACCCACATTTTCCTCCCTTATCAGGCGTGATGTGGGCCTTTT

TGGGGTGCTAAATGAAATTGCAAACTCAGAAGAAGAGGGTAAGTATTTTTCCCTCCAGCCTTCCCTAGTT

TTGTGGTTATCTCCTCTCCATATTCTTGAACTCACCCCCGACACCTGTTGGCTCAGCCTCTTTTAGCCCT

ATTTTTCCTGTCCTCTCCTCTACCTACCCAAATAACCCAGAGTGGGTGTCCAGAGTGGGTGTCCAGAGTG

TGGTGTTGAGAGCACTTACTGGGCAGAAGGACCTGGGGAGTGCCTGTCCTTCCTTGTCTTTCACCTAGAA

GGTACCTGGTAAGAGGCCTGTGAATGGTTTAATCAGAGCTGCTTCCTCAACCCTACAGTGTTTGAGTGGG

TGAAGACGGCATCCGGCTGGGCCCTGGCACTCTGTCGATGGGCCTCTTCCCTCCATGGGTCCCTGTTCCC

CCATCTGTCTGTAAGTTTGGCTTCCTCCCCAGCCCTCTGCATTTGCTGTGTCCCCATCCTACTCTGCCCT

CATTCCTATCCTTGCAGGTCAGGGTTGGGTGTGATGACTTCAGAGGGTAGGAGTGGTCCAGCTCCCCTGT

TGGAATATTGAGGAGATGGACTCCTTTTGCCCCAGTGTGTCCTGTGTCTATCTTGTTCTTACAGCTCAGG

AGCGAAGATCTGATCGCTGAATTTGCCCAAGTCACAAATTGGTGAGTGCACAAGCCCTGGAGCTTTGTGG

AAAGGAAGTCCTGAACCTCAAAACTCCCTTTGGGGAGAAGGCAAAGACTCCTACTCCTTTTCTGATTGCT

CACCATATTCTCATTCCTCCTGTTCCCCCAAAAAAGAATACAAGAAAAAGTAGGAAAAAACCATGTCCTT

ACTGGAAATGAATGTGAGCTTCTGGGCTAGGGTAGGGATAGGTGCAGGAACTCTTCATGTTAACCCCTTC

CTTAGGTCCAGCTGCTGCTTGCGTGTCTTTGCATGGCACCCCCACACCAACAAGTTTGCAGTGGCCCTGC

TAGATGACTCAGTCCGTGTGTATAATGCCAGCAGGTGTGTGTGGGGACACCAGGTGGGCTCTGACTTGTC

AATATCACCTTCCCTTGCCAGCCTTGGTTCCGGGGAGTCCTGTAGTTCTTGAACCTGATTCATGGGGCTC

CTTCCAGAACTGGGGTCAGGGAAGCTCCATAACTGGATGCGTGCTTCTTCTAGACCTAACCTTTATCCCC

TCCTGTCCTATGGTGCCCCTGGCCCCTGGATGGATCATCCTTCTTCTCTGTGGCTTTCCCTCCTTAACTG

CACTCTGGTCCCTGGAGCCTTAGTGTTCCTGCCTTGACTCAGTTTCCTGCCCCTTCACCCTAGCACCATA

GTCCCCTCCCTGAAGCACCGGCTGCAGCGAAATGTGGCGTCTCTGGCCTGGAAGCCCCTTAGTGCCTCTG

TCTTGGCTGTGGCCTGCCAGAGCTGCATTCTTATCTGGACCCTGGACCCTACCTCCTTGTCTACCCGGTA

AGTCCTAGTAGCCTGCCTTACCTTGGCCTGAGAGTTGTGCAATGCTAGGCATGGTGGGTGGTGAGGACGT

CTGAAAGGAGAAGTTCTTTGTCCTCACAGCACTTCCCAGGGCTATGGGAAAAGCAGAAGTAAGATCAAGG

TGGGTTGCTGAGAATACTCTAATCTGGAGAAAGAGAACTAGGGGCTTTTTGGATTGTGGGGACAATGTGT

CTGTGGGTTACGGGGTGGAAAGACTCTTTCAGAGGACTATACACTTCCTTTACACTTAAAGGAAGTGTAA

AGAAAATTAGTACTAATAAGATCAGAAACTAATAAAATTAGAAAAAGAATACCTGTGAAAACTAACTAAA

AATAAAACCAGAAACTGGTTCTTTAAATTATGACTAAGCTGGGTGCGGTGGCTCATGCCTGTAATTCCAA

CACTTTGGGATGTGGAGGCGGTTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGCA

AAACCTTGTCTCTACTAAAAATATGAAAATTAGCTGGGCATGGTGGTACACACCTGTAGTCCCAGCTACT

CGGGAAGCTGAGGCAGGAGAATCGCTTGAATCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCAC

TGTACTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAATTATGAATAAAGGCTGG

GAACAGTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCAAGGCGTGAGGATCACCTGAGGTCAGGA

GTTTGAGACCAGCCTGGCCAACATGGTAAAACCCGTCTCTGCTAAAAATACAAAAATTAGGCCAGGCGCA

GTGGCTCATGCCTGTAATCTCAGCACTTTGGGAGACCAAGGTGGGTGGATTTCTTGAGGCCAGGAGTTCG

AAACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGACGTGGTG

GTGCGTGCCTGTGATCCCAGCTACTTGGGAGGCTGAGACACAAGAATCACTTGAACCCGGGAAGCGGAGG

TTGCAGTGAGTTGACATCATGCCACTACAGCTGTACTCTGGTCTGGGCAACAGAGTGAGACCCTGTCTCA

AAAAAAAAAAAAAAAAAAAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAG

GCGGGTGGATCATGAGGTCAGGAGATAGAGACCATCCTGGCTAACACGGTGAAACCCCATCTTTACTAAA

AATACAAAAAATCAGCTGGGCGTGGTGGTGCTCGCCTGTAGTCTCAGCTACTTGGCAGGCTGAGGCAGGA

GAGTCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAACTGAGATCACGCCACTGTACTCCAGCCTGGGCA

ACAAAGCAAGACTCTGTCTCAAAAAAAAAAAATATATATATATATACACACACACACACATATATGTTTT

ATATATATACACATATATATACACGTATATATATATATACGTGTATGTATACGTGTATATACGTATATAT

ATGAATAAAGAAGAAAACCTCTTGGTTAGCCTAATTAAGGAGAAAAAGAAAACCAAAGTATACTATTTTC

AGAAGTGGAAAGATATAGATACGGGAGAAAATAGAAGAATTATAAAAGAATATTGTGGACTTGTTTAGGC

CAACAGATTTGAAAATCTGAAGGAAATGTTTGATTTCTTTTTTTTTTTTGAGAAGGAGTTTCACTCCTGT

TGCCCAGGCTGGAGTGCAGTGGCACGATCTCGACTCACTGCAACCTCAGCCTCCCGGGTTCAAGTGATTC

TTCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACGCACTAGCTAATTTTTGTATTTTTAGTAGAG

ATAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTTGTGATCCGCCCGCCTTGGCTTCC

CAAAGTGCTGGGATTATAGAAGTGAGCCACCGTGCCCTGTGGAAATGTTTGATTTTCTAGCAAAATATAA

GTTACCAAAGTGGATTGTAGAAGAAAATAATGAGATTTTTTTTTTTTGAGATGGAGTTCCACTTTTGTTG

CCCAGGCTGGATGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGAT

TCTCCTCTTGACTTCGTGATCCGCCCGCCTCAGCATCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCA

TGCCCGGCCTGTCCTCCCTTTTTTTTGTTGCAGGATCTTCCTGATTTATTTTTATAAAGCTAATGTAACC

CTGATACCTAAACCTTGACAATAGGTACTATAAGAAAAAAACACGTGATCACAGATTTTTTTTGGGGGGG

GATGGAATCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTCAGCTCACTGCAACAACCTCTG

CCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCGTGCCACCAC

ACCGGCTAATTTTTTATTTTTAGTAGAGACAGGGGTTTCACCATATTGGCCAGGCTGGTCTCAAACTCTT

GACCTCAGGTGATCCGCCTGCCTCGGCCTCCCGAAGTGCTGAGATTACAGGCATGAGCCGCTGCAACTGG

CCTGTTTTTTGGTTTTTTTAGAGATGGGGTTTCATTATGTTGCCCAGGCTGGAATACAGTGGCTATTCAC

AGACTCAATCATTGCACACTACAGCCTTGAACACCTGGGCTCAAGTGAGCCCCTTGCCAAGTAGCTGGGA

CTATAGGTGCGTACACCACGCCTGGAAGGTTGTTGGTTTTTTTTGTTTCTACTAAAAATACAAAAATTAG

CTGGGTGTGGTGGCGTGCGCCTATAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTCACTTGAACC

CAGGAGGTGGACGTTTCAGTGAGCTGAGATAATGCCATTGTACTCTAGCCTGGGTGACAAGAGCGGAACT

CGATTTAAAAAAATTTTTTTAAATAAATGAACAAAAAACAAGGCCAGGCGTGATGGCTCATGCGTGTAAT

TCCAGCACTTTCGGAGGCTGAGGCAGATGGATCGCTTGAGCCTAGGAGTTTGAGACTAGCTTGGTCAACA

TAGATGCTGTCTATACAAAAAATAAAAATAAAAAAACTAGCTGGGCGTGGGGTGTACGCCTGTAGTCCTA

GCTACTTTAGAGGCTGAGGCAGGAGCCTCAGGACTTTGAGGCTGCAGTGTGCTATGACTGTGTCACTGCA

CTCCATCCTGGAGTGTGAACCACCATGCCTGGCCCAGGAAATATTTTTTACAGCATTATGTATAATAAAA

AATTACAAACAAGTCAAATGTCCATTTGTAGAGGCATGACTCAATAAATTATAGTTCATCTATTGAGTGG

TATACAATGGAGCCACTGAAAAGAATGAGATGAATCTGAACCCACCTGCAAAGGCAGCTGTGATTTATCA

TAAAGTTCAAGAGAATTAAATTGTACATCCATGACTAAGACTTCACTGGAGCTGAAGGTGGTTATAGTTA

GGTGGAAAGAGAGGTGGCATTAATTCAGGTAGTAGCCTTCGTCTGTCAGGCCAGGCACATGGCTCTGGAA

ATACACAGCTGCAGACACATGGCAGGTGCCCTCAGGTAGTTCCCTGCTGGTGATGGAGGCCGAGCCACAT

GCTGCATCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGCTGGAGTGCAGTGGTGC

AATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCT

GGGACTACAGGCGAACACCACCACGCCCAGCTAATTTTTTTGTACTTTTAGTAGAGACGGGGTTTCACCA

TGTTGGCCAGAATGGTCTCGATCTCTTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGAT

TACAGGCGTGAGCCACTGCGCCCAGCCTGCAGCATCTTTATGATAAGGAGCAAACGCGGGAGCTGCAGAG

TTGGGAGGTACTTTGATAAGGCAAGGCAGGAGGGCTGTTTGGGAGCACAGGATGTGTTCTGAGGAGTGTT

AGATAACTGGAGAGAAAAGGTTGGAACCTTGAAGTAATGTCATAGATTATTAATCCTGGATAGATGGATG

GCCAGGCTGGATGGCCTGTGGGCAGAGAGCTGTGTTCTGGGGTAGGGCCTGATATCGCCCCAGGGGCAGT

ACCTTCTAGGTTACTGGTTAGGTTTTGCCTCATGGCCTATCTCGTGAAAGCACTCTTTCACCCTGGCCTG

AGACCTTGCAGATTACCTCTTCTCTGTTGACCTGCTCGTGGTGACTTGGTCGTTTTTCCCCTTCGCTGTT

TTTTTCTTTTAACTTTCACAATCCTTATTCCTTTTTCACAACCTGGATTTGAGCCCAGAGTGGGCCATCA

GGATAGGAGGTTTTAGCAGGAGGCAAAGAAATAGAATTTTGGGGATGGCTTCTTGTCATCTTCTGACTCC

ACATCCTCTGTGTTCCCCTCCAGACCCTCTTCTGGCTGTGCCCAAGTGCTGTCTCACCCTGGGCATACAC

CTGTTACCAGCTTGGCCTGGGCCCCCAGTGGGGGGCGGCTGCTCTCAGCTTCACCCGTGGATGCTGCTAT

CCGGGTGAGTGGGTCCCTGCCCCTCATGCACATTTCAGTCCTGGCAAAAGTGTTCCTCACTCGGTTGTGG

AAACATCTTGGGGGAAGGAGGAGGGACCTTGGTCCATTCAGTCTTAAACTTACCCAGAGAGGAGCTTTGC

CATCAGACTCGTGAGGTTTAAAATTCCGCTGTCTGTAATTGTCAGCATGAACCCGTGCCTCATGTTTCAC

AGTCCCTCTCCCGCTTCCTCTCGTTTCTGGCTCTTTGTACATTAGAGAGGCCAGCCCACTGTGAGATGAT

GGGGTGCTTGAGTTTTCCCTTATCTCCTGCCCCACTCTCCTAGGTATGGGATGTCTCAACAGAGACCTGT

GTCCCCCTTCCCTGGTTCCGAGGAGGTGGGGTGACCAACCTGCTCTGGTCCCCAGACGGCAGCAAAATCC

TGGCTACCACTCCTTCAGCTGTCTTTCGGTGAGTGGGACAAGGATGGAGGGAGGGCAAGGACCTAGAGAA

AGGCACTTAGCTCCTGGAAGCTCTGTCAAGGGAGGTAGGTCCAACTTTTAGAACTTAGAGGTCCTGAGCT

GTAATTTGCTTTTCTCTGGCTCAGAGTCTGGGAGGCCCAGATGTGGACTTGTGAGAGGTGGCCTACTCTA

TCAGGGCGCTGTCAGGTAAGAGGGGACTCTGATTCACAGACACTGGGGAGGAGATGATTCCAATGGGCCC

CTGATGCTCCCAAACCTGGCCACCTCTACTTTCCCTCCTGCATTCTACTATAGACATACCTTCTCCTGCC

TTTTGCTCCCTGACCCCAGACTGGCTGCTGGAGCCCAGATGGCAGCCGACTGCTGTTCACTGTATTGGGA

GAGCCACTGATTTACTCCCTGTCTTTTCCAGAACGTTGTGGTGAGTTAGGGCAACACTTCAGTATTTGGG

GTGGTCAGAGGGAGGCAGCAACCTTTGGTAAGATGCAGCTCTGAGGGATAAAGGGAAATATAGAAGCTTA

GGAGATTTCGAGGTGTTGATGCCTTTGGTGAGCTGGCAGGGGACCAGTGAGAGGCCTGTTTCTTGCAAGA

ACCTCTCTGCTCTTATTTGTCCACAGGTGAGGGAAAGGGGTGCGTTGGAGGTGCAAAGTCAGCAACGATT

GTGGCAGATCTGTCTGAGACAACAATACAGACACCAGATGGTGAGGAGAGGTGAGCTGAGTGGTTGAGGG

AGTGGCAGTGAAAAGCAGGTGGGAGGGACCACACTGAAACTCTCCTAACCTGTCCTTACCCACAGGCTTG

GGGGAGAGGCTCACTCCATGGTCTGGGACCCCAGTGGGGAACGTCTGGCTGTGCTTATGAAAGGTGAGAG

GCAAGGATGAAGGGCTCAGCCCACAGCCATCTTCCCAGTTAATCTAATGAGGCCGTGCCCTGGCCTGGAG

TTCTCCTCTGCCCATGTCCTGGGACTCTGCCTTCAGAGTTCCTCCCCTATCCCTGGATCCATTTCTTACA

GGAAAGCCAAGGGTACAGGATGGTAAACCAGTCATCCTCCTTTTTCGCACTCGAAACAGCCCTGTGTTTG

AGCTCCTTCCCTGGTAAGTGCCATGTGGGCCCTTAGGTCTGGACTTCTCACCAGCCTTCCTGCACAAACA

AACCCACATCCCACTACATTCAGCTCCCTTCTTGCCTCCGGTTGCCTGCTCACCTTTTCTTCTAGTGGCA

TTATCCAGGGGGAGCCAGGAGCCCAGCCCCAGCTCATCACTTTCCATCCTTCCTTCAACAAAGGGGCCCT

GCTCAGTGTGGTGAGTGCGCCAGGCTGCTGGGGCTTCCAGGAGTTGGATGGAGAAGCTGAGGGCCTTGGC

TGCTGTATGGCTCTGCCAGGTGGCCCTTCTTTGGGCCCAGACTCTGATCCTTTTCTTTCCCTTCTCTGCA

GGGCTGGTCCACAGGCCGAATTGCCCACATCCCGCTGTACTTTGTCAATGCCCAGTTTCCACGTTTTAGC

CCAGTGCTTGGGCGGGCCCAGGAACCCCCTGCTGGGGGTGGAGGCTCTATTCATGACCTGCCCCTCTTTA

CTGAGACATCCCCAACCTCTGCCCCTTGGGACCCTCTCCCAGGGCCACCACCTGTTCTGCCCCACTCCCC

ACATTCCCACCTCTAAGAATAAATAAGTTTTCCTTTTGTTTTCCACTCA

7. Motif

Pfam	Position(Independent E-value)	Description
ANAPC4_WD40	153..202(0.47) 158..215(0.19)	PF12894, Anaphase-promoting complex subunit 4 WD40 domain
WD40	240..273(0.00023)	PF00400, WD domain, G-beta repeat
PD40	336..346(0.56)	PF07676, WD40-like Beta Propeller Repeat

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 . The tree with the highest log likelihood (-2742.50) is shown. 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 19 amino acid sequences. There were a total of 578 positions in the final dataset.

9. SNP

SNP	COORDINATE	AMINO ACID CHANGE	GENE ID	TRANSCRIPT ID	PROTEIN ID	SCORE	MEDIAN	PREDICTION
rs121918549	53715207	Q15K	ENSG00000094914	ENST00000394384	ENSP00000377908	0.924	3.38	TOLERATED
rs121918549	53715207	Q15K	ENSG00000094914	ENST00000209873	ENSP00000209873	0.933	3.28	TOLERATED
rs121918550	53703408	S263P	ENSG00000094914	ENST00000209873	ENSP00000209873	0.011	3.27	DELETERIOUS
rs121918550	53703408	S230P	ENSG00000094914	ENST00000394384	ENSP00000377908	0.013	3.35	DELETERIOUS
rs121918550	53703408	S139P	ENSG00000094914	ENST00000550286	ENSP00000446885	0.018	3.18	DELETERIOUS
rs121918551	53701879	L397F	ENSG00000094914	ENST00000394384	ENSP00000377908	0.034	3.35	DELETERIOUS
rs121918551	53701879	L430F	ENSG00000094914	ENST00000209873	ENSP00000209873	0.041	3.25	DELETERIOUS
rs121918551	53701879	L306F	ENSG00000094914	ENST00000550286	ENSP00000446885	0.041	3.39	DELETERIOUS

Evolutionary analysis of coding SNPs

SNP	Substitution	Probability of deleterious effect	Prediction Score
rs121918549	Q15K	possibly damaging	0.5
rs121918549	Q15K	possibly damaging	0.5
rs121918550	S263P	probably damaging	0.85
rs121918551	L430F	possibly damaging	0.5

Provean

SNP	Wildtype Amino Acid	Position	Variant Amino Acid	Predicted Effect	Score	Expected Accuracy
rs121918549	Q	15	K	effect	72	85%
rs121918549	Q	15	K	effect	63	80%
rs121918550	S	263	P	effect	74	85%
rs121918551	L	430	F	neutral	-100	97%

Polophyen

Rs_id	Mutation Probability	Score
rs121918549	Possibly Damaging	0.779
rs121918549	Possibly Damaging	0.899
rs121918550	Possibly Damaging	0.778
rs121918551	Possibly Damaging	0.987

SNAP 2

Rs_ids	Mutation	Function Impact	Score
rs121918549	Q15K	High	3.145
rs121918549	Q15K	High	3.567
rs121918550	S263P	Medium	2.432
rs121918551	L430F	Low	0.981

Functional Regions In Proteins

e - An exposed residue according to the neural-network algorithm.

b - A buried residue according to the neural-network algorithm.

f - A predicted functional residue (highly conserved and exposed).

s - A predicted structural residue (highly conserved and buried).

X - Insufficient data - the calculation for this site was performed on less than 10% of the sequences

10. Active Site

Rank	C-Score	Cluster Size	PDB Hit	Lig Name	Consensus Building Residues
1	0.26	33	4wjvA	PEPTIDE	124,155,195,197,246,264,332,349,398,400,456,457
2	0.06	8	1aofA	DHE	107,109,155,156,197,198,199,248,294,333,401,456,457,459
3	0.03	3	2xl2B	PEPTIDE	254,296,297,298,300,301,322,341,357
4	0.03	4	2ovqB	PEPTIDE	124,152,153,155,171,197,214,248,289,307,332,348,400
5	0.02	2	4um9A	PEPTIDE	345,346,355,374
6	0.02	2	2hesX	CA	309,310,325
7	0.02	2	3o30T	OHX	488,489,491,498
8	0.01	1	3sfzA	GBL	55,56
9	0.01	1	1a0rB	FAR	498,501,503,504,518,520,522,524,526,528
10	0.01	1	3smrC	NP7	139,156,196,197,198,248,289,291,307

11. Primary Sequence Analysis

Number of amino acids

546

Molecular weight

59574.15

Theoretical pI

7.26

Amino acid composition

Ala (A) 38 7.0%

Arg (R) 30 5.5%

Asn (N) 14 2.6%

Asp (D) 18 3.3%

Cys (C) 15 2.7%

Gln (Q) 17 3.1%

Glu (E) 26 4.8%

Gly (G) 45 8.2%

His (H) 18 3.3%

Ile (I) 21 3.8%

Leu (L) 61 11.2%

Lys (K) 14 2.6%

Met (M) 4 0.7%

Phe (F) 21 3.8%

Pro (P) 53 9.7%

Ser (S) 53 9.7%

Thr (T) 34 6.2%

Trp (W) 21 3.8%

Tyr (Y) 5 0.9%

Val (V) 38 7.0%

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

C₂₆₉₁H₄₁₄₆N₇₃₈O₇₅₈S₁₉

Total number of atoms(8352)

Carbon C 2691

Hydrogen H 4146

Nitrogen N 738

Oxygen O 758

Sulfur S 19

Instability index(II)

43.73

Stability

Protein is unstable

Aliphatic index(AI)

85.71

GRAVY

-0.084

12. Secondary structure analysis

Alpha helix (Hh) : 85 is 15.57%
310 helix (Gg) : 0 is 0.00%
Pi helix (Ii) : 0 is 0.00%
Beta bridge (Bb) : 0 is 0.00%
Extended strand (Ee) : 155 is 28.39%
Beta turn (Tt) : 27 is 4.95%
Bend region (Ss) : 0 is 0.00%
Random coil (Cc): 279 is 51.10%
Ambiguous states (?) : 0 is 0.00%
Other states : 0 is 0.00%

Secondary Structure Prediction

Amino Acid Types

13. Enzymes

Name of enzyme	No. of cleavages
Arg-C proteinase	30
Asp-N endopeptidase	18
Asp-N endopeptidase + N-terminal Glu	44
BNPS-Skatole	21
CNBr	4
Chymotrypsin-high specificity (C-term to [FYW], not before P)	42
Chymotrypsin-low specificity (C-term to [FYWML], not before P)	115
Clostripain	30
Formic acid	18
Glutamyl endopeptidase	26
Iodosobenzoic acid	21
Hydroxylamine	6
Iodosobenzoic acid	11
LysC	14
LysN	14
NTCB (2-nitro-5-thiocyanobenzoic acid)	15
Pepsin (pH1.3)	100
Pepsin (pH>2)	134
Proline-endopeptidase	6
Proteinase K	265
Staphylococcal peptidase I	49
Thermolysin	154
Trypsin	41

14. Epitope

Peptide Rank	Start Position	Sequence	Score	Prediction
1	3	SLGLFPPPP	1	Epitope
2	340	GSRLLFTVL	1	Epitope
3	397	GEAHSMVWD	1	Epitope

15. Protein-Protein Interaction

No of Nodes	11
No of Edges	34
Avg node degree	9.82
avg. local clustering coefficient	0.982
expected number of e, dges	12
p-value	< 1.0e-16
Protein – Protein Interaction network

16. MRNA

Base pairing probability plot