Disease Name: Wilson Disease (WD)
>sp|P35670|ATP7B_HUMAN Copper-transporting ATPase 2 OS=Homo sapiens OX=9606 GN=ATP7B PE=1 SV=4
MPEQERQITAREGASRKILSKLSLPTRAWEPAMKKSFAFDNVGYEGGLDGLGPSSQVATS
TVRILGMTCQSCVKSIEDRISNLKGIISMKVSLEQGSATVKYVPSVVCLQQVCHQIGDMG
FEASIAEGKAASWPSRSLPAQEAVVKLRVEGMTCQSCVSSIEGKVRKLQGVVRVKVSLSN
QEAVITYQPYLIQPEDLRDHVNDMGFEAAIKSKVAPLSLGPIDIERLQSTNPKRPLSSAN
QNFNNSETLGHQGSHVVTLQLRIDGMHCKSCVLNIEENIGQLLGVQSIQVSLENKTAQVK
YDPSCTSPVALQRAIEALPPGNFKVSLPDGAEGSGTDHRSSSSHSPGSPPRNQVQGTCST
TLIAIAGMTCASCVHSIEGMISQLEGVQQISVSLAEGTATVLYNPSVISPEELRAAIEDM
GFEASVVSESCSTNPLGNHSAGNSMVQTTDGTPTSVQEVAPHTGRLPANHAPDILAKSPQ
STRAVAPQKCFLQIKGMTCASCVSNIERNLQKEAGVLSVLVALMAGKAEIKYDPEVIQPL
EIAQFIQDLGFEAAVMEDYAGSDGNIELTITGMTCASCVHNIESKLTRTNGITYASVALA
TSKALVKFDPEIIGPRDIIKIIEEIGFHASLAQRNPNAHHLDHKMEIKQWKKSFLCSLVF
GIPVMALMIYMLIPSNEPHQSMVLDHNIIPGLSILNLIFFILCTFVQLLGGWYFYVQAYK
SLRHRSANMDVLIVLATSIAYVYSLVILVVAVAEKAERSPVTFFDTPPMLFVFIALGRWL
EHLAKSKTSEALAKLMSLQATEATVVTLGEDNLIIREEQVPMELVQRGDIVKVVPGGKFP
VDGKVLEGNTMADESLITGEAMPVTKKPGSTVIAGSINAHGSVLIKATHVGNDTTLAQIV
KLVEEAQMSKAPIQQLADRFSGYFVPFIIIMSTLTLVVWIVIGFIDFGVVQRYFPNPNKH
ISQTEVIIRFAFQTSITVLCIACPCSLGLATPTAVMVGTGVAAQNGILIKGGKPLEMAHK
IKTVMFDKTGTITHGVPRVMRVLLLGDVATLPLRKVLAVVGTAEASSEHPLGVAVTKYCK
EELGTETLGYCTDFQAVPGCGIGCKVSNVEGILAHSERPLSAPASHLNEAGSLPAEKDAV
PQTFSVLIGNREWLRRNGLTISSDVSDAMTDHEMKGQTAILVAIDGVLCGMIAIADAVKQ
EAALAVHTLQSMGVDVVLITGDNRKTARAIATQVGINKVFAEVLPSHKVAKVQELQNKGK
KVAMVGDGVNDSPALAQADMGVAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSKRTVRR
IRINLVLALIYNLVGIPIAAGVFMPIGIVLQPWMGSAAMAASSVSVVLSSLQLKCYKKPD
LERYEAQAHGHMKPLTASQVSVHIGMDDRWRDSPRATPWDQVSYVSQVSLSSLTSDKPSR
HSAAADDDGDKWSLLLNGRDEEQYI
>NM_000053.2 Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA
TTCCCGGACCCCTGTTTGCTTTAGAGCCGAGCCGCGCCGATGCCCTCACACTCTGCGCCTCCTCTCCCGG
GACTTTAACACCCCGCTCTCCTCCACCGACCAGGTGACCTTTTGCTCTGAGCCAGATCAGAGAAGAATTC
GGTGTCCGTGCGGGACGATGCCTGAGCAGGAGAGACAGATCACAGCCAGAGAAGGGGCCAGTCGGAAAAT
CTTATCTAAGCTTTCTTTGCCTACCCGTGCCTGGGAACCAGCAATGAAGAAGAGTTTTGCTTTTGACAAT
GTTGGCTATGAAGGTGGTCTGGATGGCCTGGGCCCTTCTTCTCAGGTGGCCACCAGCACAGTCAGGATCT
TGGGCATGACTTGCCAGTCATGTGTGAAGTCCATTGAGGACAGGATTTCCAATTTGAAAGGCATCATCAG
CATGAAGGTTTCCCTGGAACAAGGCAGTGCCACTGTGAAATATGTGCCATCGGTTGTGTGCCTGCAACAG
GTTTGCCATCAAATTGGGGACATGGGCTTCGAGGCCAGCATTGCAGAAGGAAAGGCAGCCTCCTGGCCCT
CAAGGTCCTTGCCTGCCCAGGAGGCTGTGGTCAAGCTCCGGGTGGAGGGCATGACCTGCCAGTCCTGTGT
CAGCTCCATTGAAGGCAAGGTCCGGAAACTGCAAGGAGTAGTGAGAGTCAAAGTCTCACTCAGCAACCAA
GAGGCCGTCATCACTTATCAGCCTTATCTCATTCAGCCCGAAGACCTCAGGGACCATGTAAATGACATGG
GATTTGAAGCTGCCATCAAGAGCAAAGTGGCTCCCTTAAGCCTGGGACCAATTGATATTGAGCGGTTACA
AAGCACTAACCCAAAGAGACCTTTATCTTCTGCTAACCAGAATTTTAATAATTCTGAGACCTTGGGGCAC
CAAGGAAGCCATGTGGTCACCCTCCAACTGAGAATAGATGGAATGCATTGTAAGTCTTGCGTCTTGAATA
TTGAAGAAAATATTGGCCAGCTCCTAGGGGTTCAAAGTATTCAAGTGTCCTTGGAGAACAAAACTGCCCA
AGTAAAGTATGACCCTTCTTGTACCAGCCCAGTGGCTCTGCAGAGGGCTATCGAGGCACTTCCACCTGGG
AATTTTAAAGTTTCTCTTCCTGATGGAGCCGAAGGGAGTGGGACAGATCACAGGTCTTCCAGTTCTCATT
CCCCTGGCTCCCCACCGAGAAACCAGGTCCAGGGCACATGCAGTACCACTCTGATTGCCATTGCCGGCAT
GACCTGTGCATCCTGTGTCCATTCCATTGAAGGCATGATCTCCCAACTGGAAGGGGTGCAGCAAATATCG
GTGTCTTTGGCCGAAGGGACTGCAACAGTTCTTTATAATCCCTCTGTAATTAGCCCAGAAGAACTCAGAG
CTGCTATAGAAGACATGGGATTTGAGGCTTCAGTCGTTTCTGAAAGCTGTTCTACTAACCCTCTTGGAAA
CCACAGTGCTGGGAATTCCATGGTGCAAACTACAGATGGTACACCTACATCTGTGCAGGAAGTGGCTCCC
CACACTGGGAGGCTCCCTGCAAACCATGCCCCGGACATCTTGGCAAAGTCCCCACAATCAACCAGAGCAG
TGGCACCGCAGAAGTGCTTCTTACAGATCAAAGGCATGACCTGTGCATCCTGTGTGTCTAACATAGAAAG
GAATCTGCAGAAAGAAGCTGGTGTTCTCTCCGTGTTGGTTGCCTTGATGGCAGGAAAGGCAGAGATCAAG
TATGACCCAGAGGTCATCCAGCCCCTCGAGATAGCTCAGTTCATCCAGGACCTGGGTTTTGAGGCAGCAG
TCATGGAGGACTACGCAGGCTCCGATGGCAACATTGAGCTGACAATCACAGGGATGACCTGCGCGTCCTG
TGTCCACAACATAGAGTCCAAACTCACGAGGACAAATGGCATCACTTATGCCTCCGTTGCCCTTGCCACC
AGCAAAGCCCTTGTTAAGTTTGACCCGGAAATTATCGGTCCACGGGATATTATCAAAATTATTGAGGAAA
TTGGCTTTCATGCTTCCCTGGCCCAGAGAAACCCCAACGCTCATCACTTGGACCACAAGATGGAAATAAA
GCAGTGGAAGAAGTCTTTCCTGTGCAGCCTGGTGTTTGGCATCCCTGTCATGGCCTTAATGATCTATATG
CTGATACCCAGCAACGAGCCCCACCAGTCCATGGTCCTGGACCACAACATCATTCCAGGACTGTCCATTC
TAAATCTCATCTTCTTTATCTTGTGTACCTTTGTCCAGCTCCTCGGTGGGTGGTACTTCTACGTTCAGGC
CTACAAATCTCTGAGACACAGGTCAGCCAACATGGACGTGCTCATCGTCCTGGCCACAAGCATTGCTTAT
GTTTATTCTCTGGTCATCCTGGTGGTTGCTGTGGCTGAGAAGGCGGAGAGGAGCCCTGTGACATTCTTCG
ACACGCCCCCCATGCTCTTTGTGTTCATTGCCCTGGGCCGGTGGCTGGAACACTTGGCAAAGAGCAAAAC
CTCAGAAGCCCTGGCTAAACTCATGTCTCTCCAAGCCACAGAAGCCACCGTTGTGACCCTTGGTGAGGAC
AATTTAATCATCAGGGAGGAGCAAGTCCCCATGGAGCTGGTGCAGCGGGGCGATATCGTCAAGGTGGTCC
CTGGGGGAAAGTTTCCAGTGGATGGGAAAGTCCTGGAAGGCAATACCATGGCTGATGAGTCCCTCATCAC
AGGAGAAGCCATGCCAGTCACTAAGAAACCCGGAAGCACTGTAATTGCGGGGTCTATAAATGCACATGGC
TCTGTGCTCATTAAAGCTACCCACGTGGGCAATGACACCACTTTGGCTCAGATTGTGAAACTGGTGGAAG
AGGCTCAGATGTCAAAGGCACCCATTCAGCAGCTGGCTGACCGGTTTAGTGGATATTTTGTCCCATTTAT
CATCATCATGTCAACTTTGACGTTGGTGGTATGGATTGTAATCGGTTTTATCGATTTTGGTGTTGTTCAG
AGATACTTTCCTAACCCCAACAAGCACATCTCCCAGACAGAGGTGATCATCCGGTTTGCTTTCCAGACGT
CCATCACGGTGCTGTGCATTGCCTGCCCCTGCTCCCTGGGGCTGGCCACGCCCACGGCTGTCATGGTGGG
CACCGGGGTGGCCGCGCAGAACGGCATCCTCATCAAGGGAGGCAAGCCCCTGGAGATGGCGCACAAGATA
AAGACTGTGATGTTTGACAAGACTGGCACCATTACCCATGGCGTCCCCAGGGTCATGCGGGTGCTCCTGC
TGGGGGATGTGGCCACACTGCCCCTCAGGAAGGTTCTGGCTGTGGTGGGGACTGCGGAGGCCAGCAGTGA
ACACCCCTTGGGCGTGGCAGTCACCAAATACTGTAAAGAGGAACTTGGAACAGAGACCTTGGGATACTGC
ACGGACTTCCAGGCAGTGCCAGGCTGTGGAATTGGGTGCAAAGTCAGCAACGTGGAAGGCATCCTGGCCC
ACAGTGAGCGCCCTTTGAGTGCACCGGCCAGTCACCTGAATGAGGCTGGCAGCCTTCCCGCAGAAAAAGA
TGCAGTCCCCCAGACCTTCTCTGTGCTGATTGGAAACCGTGAGTGGCTGAGGCGCAACGGTTTAACCATT
TCTAGCGATGTCAGTGACGCTATGACAGACCACGAGATGAAAGGACAGACAGCCATCCTGGTGGCTATTG
ACGGTGTGCTCTGTGGGATGATCGCAATCGCAGACGCTGTCAAGCAGGAGGCTGCCCTGGCTGTGCACAC
GCTGCAGAGCATGGGTGTGGACGTGGTTCTGATCACGGGGGACAACCGGAAGACAGCCAGAGCTATTGCC
ACCCAGGTTGGCATCAACAAAGTCTTTGCAGAGGTGCTGCCTTCGCACAAGGTGGCCAAGGTCCAGGAGC
TCCAGAATAAAGGGAAGAAAGTCGCCATGGTGGGGGATGGGGTCAATGACTCCCCGGCCTTGGCCCAGGC
AGACATGGGTGTGGCCATTGGCACCGGCACGGATGTGGCCATCGAGGCAGCCGACGTCGTCCTTATCAGA
AATGATTTGCTGGATGTGGTGGCTAGCATTCACCTTTCCAAGAGGACTGTCCGAAGGATACGCATCAACC
TGGTCCTGGCACTGATTTATAACCTGGTTGGGATACCCATTGCAGCAGGTGTCTTCATGCCCATCGGCAT
TGTGCTGCAGCCCTGGATGGGCTCAGCGGCCATGGCAGCCTCCTCTGTGTCTGTGGTGCTCTCATCCCTG
CAGCTCAAGTGCTATAAGAAGCCTGACCTGGAGAGGTATGAGGCACAGGCGCATGGCCACATGAAGCCCC
TGACGGCATCCCAGGTCAGTGTGCACATAGGCATGGATGACAGGTGGCGGGACTCCCCCAGGGCCACACC
ATGGGACCAGGTCAGCTATGTCAGCCAGGTGTCGCTGTCCTCCCTGACGTCCGACAAGCCATCTCGGCAC
AGCGCTGCAGCAGACGATGATGGGGACAAGTGGTCTCTGCTCCTGAATGGCAGGGATGAGGAGCAGTACA
TCTGATGACTTCAGGCAGGCGGGCCGGGGCAGGGACTTGCCTCCACTCACCACAAGCTGAGCAGGACAGC
CAGCAGCAGGATGGGCTGAGCTAGCCTCCAGCTTTGGGGACTTCCGCTCCCTGGATATGTCCAGTCATCC
TGCCCTGCAGCACGCGGCCTTGTCTGGGTGCAGCTGGGCTTGGCCTGGAGAGGACGGCCCTGCCTGCCTC
TTGGCCTCACGGGACCGTCAGCATGGGCTTTGTCTTGGACTCTAGTCCTTGGCTGGACTGTAGAAGGTGA
GAGGCGAGTCACCCTCCTCACAGACCTCTGCTTGGAGTATTTAGGATGACTGCTGTGAAATGGAGAACAG
TTTCATCAGGACCAAAAAACCTCACTGGGCCTTTCCAGAGAACTGCAGACCTCACTGTCAGGGTCTTTCT
GATGACGCCTGTCTGTGTGCATCATGTTTCTGAGACCACAGTTTACCTCAGGTGTGCCTGTTGCTTTCTT
CCTGCATAGTCTGTTCCTTTCTTCGTACATAGTCTGTTCCTTTTCTCTCCTGTGTGCTTGTCAGTGGGGA
CCCCTCGCAACCCTGCCTGTCACCTGGGAGGGTGGGACCAATGTCCTTGTGGTCTTTGCTGCTGCTCTCA
GGCGCTTCTCCAATGCTCTGGAGTGTGCATTTCAGCTTGAACCTGCTTCCTGGCTCACACATCCCCAGCC
AGGGAGCTTGCCACACTCTTCTTCAAGTTGAGGAGAGTTCTTTTTTGCTTAAAGCCCCCTTCTCCATGGA
GTGTTGGCTTCTCAATAGAGTGTTGTTGCTGACCAGCTGGAGTGAGGGCCTCAGAGCCTGACCTGAGAGT
CCGTACTCGGCTTCCTGTGGGGTGTAGGTTCTCGCGATTCAGGACGTCCTTCCATATCCCTGCCCAGCCT
GTGGTGCTTGAAACGTTTGCCCCATGGGAAACGTATGTGTGCAGGAGCCTCCCTGCACGGCCCAAGGGGC
TTCGTTTTCAGTCTTCTGACTGTCACCTCGTGGGGTTCAGTAGAGAATTCATGTGACTAGCGCCTGGCCT
TGTGTGGCTTGGAGGAAATGGTACTGCCCAAATAGGAGGAAAACACAGCCTCCCTGAGCCTGCATTCTGC
ACGCTGCCCAGGGGCTTCAGAAAAGGAGTGGCCACAGCACCCCGAAGGGAGCATCTGTTTACCTGGCAGT
GGCTCTCAGAGCAGCAGAACGGGTTCAGTTTTAGACTCTGAAGTTGGTTGTGATTGACAGAACCCTTTGG
GAGCAAACTAGTAGAGTTGGATTAAATTCTGGGTGAAACCCTTTTCTCCCACACAAAATAGTTTTAGTGA
TTTTTTTCATTGTCCATTACTTGCCAGGGGCAGTTTTAGCAGCACTTTTGATAGATTACGTCTAATCCTC
CCAACCAACCAGCAGGGTAGCTATTACTGTCCACATTTTACAGGCAAGGAAACAGGCTCCAAGAGGCTGA
GGACTTTGCCCAGGATGACATAGCCAATGGACAAGCAGTGTCTGTCAGCTGTGAAGGCTTCACTCTTATT
GTCCTTCTACCTTGAATAGAAGTTTTCCTGATAAGAATAAACGAGGAAAAGGTCCTTGCCTCCTGGAAGA
ACAAATCTACCAGGTGATCTATTCATTGTTTCAACTCAGAATGCACTTGATTCAGGAGGTCATCTGACCT
TCACCTTGGATGGTTAGTTTCACTTTTTACATATAGTTTTTGCAGGGTTTTATTTTATAAAATCCAAGCG
CGCTGTTGATTGTGTTTTCCTTGTTTTCAGCCCCCCCACTCCAGCCCGCAGCACATTTCCGCTGTCCGTC
AGTAATTGTGTCCTCTCTTTATGCTTGCTTGGGGAATGTTGTTTTCTGACTAGGCTGATCATTATCTAAA
GAATCTAATTCTGTTGATTTTTAAAACTTTTAGGACCATAAACGTTGTGTTCATATATGGACATGGAAAT
ATTTATATAATTTTATAGAAAATAACCTTTTAGATGGTCAAAGTGTAAGGAGTTTTTTTGTCAGATAATC
ATTTCTACTTCAAAAACATTTCATGCAATATTAGAATAAAGTTCCTGTCATTCCTCTAAAAAAA
Pfam(8motifs)
Pfam |
Position(Independent E-value) |
Description |
HMA |
61..110(5.1e-11) |
PF00403, Heavy-metal-associated domain |
E1-E2_ATPase |
798..1004(5.5e-47) |
PF00122, E1-E2 ATPase |
Hydrolase |
1021..1279(2.1e-34) |
PF00702, haloacid dehalogenase-like hydrolase |
HMA_2 |
377..418(0.35) |
PF19991, Heavy metal associated domain 2 |
Hydrolase_3 |
1253..1309(2.8e-05) |
PF08282, haloacid dehalogenase-like hydrolase |
Hydrolase_6 |
1182..1267(0.013) |
PF13344, Haloacid dehalogenase-like hydrolase |
HAD_2 |
1205..1281(0.077) |
PF13419, Haloacid dehalogenase-like hydrolase |
HAD |
1201..1275(0.26) |
PF12710, haloacid dehalogenase-like hydrolase |
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 (-23134.44) 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 1696 positions in the final dataset.
SNP |
COORDINATE |
AMINO ACID CHANGE |
GENE ID |
TRANSCRIPT ID |
PROTEIN ID |
SIFT SCORE |
SIFT MEDIAN |
SIFT PREDICTION |
rs28942074 |
52532469 |
77R8L |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
0.001 |
2.45 |
DELETERIOUS |
rs28942074 |
52532469 |
R667L |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
0.001 |
2.46 |
DELETERIOUS |
rs28942074 |
52532469 |
R778L |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
0.001 |
2.45 |
DELETERIOUS |
rs28942074 |
52532469 |
R50L |
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
0.002 |
2.61 |
DELETERIOUS |
rs28942076 |
52523836 |
G513S |
ENSG00000123191 |
ENST00000400370 |
ENSP00000383221 |
0 |
2.58 |
DELETERIOUS |
rs28942076 |
52523836 |
G943S |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
0.003 |
2.45 |
DELETERIOUS |
rs28942076 |
52523836 |
G943S |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
0.004 |
2.53 |
DELETERIOUS |
rs28942076 |
52523836 |
G865S |
ENSG00000123191 |
ENST00000448424 |
ENSP00000416738 |
0.004 |
2.56 |
DELETERIOUS |
rs28942076 |
52523836 |
G215S |
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
0.031 |
2.69 |
DELETERIOUS |
rs28942076 |
52523836 |
G832S |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
0.04 |
2.52 |
DELETERIOUS |
rs60431989 |
52515330 |
I1148T |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
0.001 |
2.47 |
DELETERIOUS |
rs60431989 |
52515330 |
I941T |
ENSG00000123191 |
ENST00000344297 |
ENSP00000342559 |
0.001 |
2.43 |
DELETERIOUS |
rs60431989 |
52515330 |
I718T |
ENSG00000123191 |
ENST00000400370 |
ENSP00000383221 |
0.001 |
2.53 |
DELETERIOUS |
rs60431989 |
52515330 |
I359T |
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
0.001 |
2.63 |
DELETERIOUS |
rs60431989 |
52515330 |
I1083T |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
0.001 |
2.46 |
DELETERIOUS |
rs60431989 |
52515330 |
I1070T |
ENSG00000123191 |
ENST00000448424 |
ENSP00000416738 |
0.001 |
2.52 |
DELETERIOUS |
rs60431989 |
52515330 |
I1037T |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
0.002 |
2.48 |
DELETERIOUS |
rs72552255 |
52520550 |
T977M |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
0.001 |
2.46 |
DELETERIOUS |
rs72552255 |
52520550 |
T770M |
ENSG00000123191 |
ENST00000344297 |
ENSP00000342559 |
0.001 |
2.4 |
DELETERIOUS |
rs72552255 |
52520550 |
T866M |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
0.001 |
2.46 |
DELETERIOUS |
rs72552255 |
52520550 |
T547M |
ENSG00000123191 |
ENST00000400370 |
ENSP00000383221 |
0.001 |
2.53 |
DELETERIOUS |
rs72552255 |
52520550 |
T899M |
ENSG00000123191 |
ENST00000448424 |
ENSP00000416738 |
0.001 |
2.5 |
DELETERIOUS |
rs72552255 |
52520550 |
T249M |
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
0.002 |
2.62 |
DELETERIOUS |
rs72552285 |
52535995 |
D642H |
ENSG00000123191 |
ENST00000448424 |
ENSP00000416738 |
0.026 |
2.51 |
DELETERIOUS |
rs72552285 |
52535995 |
D531H |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
0.05 |
2.5 |
TOLERATED |
rs72552285 |
52535995 |
D642H |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
0.062 |
2.45 |
TOLERATED |
rs72552285 |
52535995 |
D642H |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
0.082 |
2.47 |
TOLERATED |
rs72552285 |
52535995 |
|
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
|
|
|
rs76151636 |
52518281 |
H862Q |
ENSG00000123191 |
ENST00000344297 |
ENSP00000342559 |
0 |
2.39 |
DELETERIOUS |
rs76151636 |
52518281 |
H639Q |
ENSG00000123191 |
ENST00000400370 |
ENSP00000383221 |
0 |
2.52 |
DELETERIOUS |
rs76151636 |
52518281 |
H991Q |
ENSG00000123191 |
ENST00000448424 |
ENSP00000416738 |
0 |
2.51 |
DELETERIOUS |
rs76151636 |
52518281 |
H1069Q |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
0.001 |
2.46 |
DELETERIOUS |
rs76151636 |
52518281 |
H958Q |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
0.001 |
2.46 |
DELETERIOUS |
rs76151636 |
52518281 |
H1004Q |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
0.002 |
2.45 |
DELETERIOUS |
rs121907990 |
52511706 |
N1270S |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
0 |
2.46 |
DELETERIOUS |
rs121907990 |
52511706 |
N1063S |
ENSG00000123191 |
ENST00000344297 |
ENSP00000342559 |
0 |
2.43 |
DELETERIOUS |
rs121907990 |
52511706 |
N1159S |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
0 |
2.47 |
DELETERIOUS |
rs121907990 |
52511706 |
N840S |
ENSG00000123191 |
ENST00000400370 |
ENSP00000383221 |
0 |
2.53 |
DELETERIOUS |
rs121907990 |
52511706 |
N481S |
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
0 |
2.63 |
DELETERIOUS |
rs121907990 |
52511706 |
N1205S |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
0 |
2.46 |
DELETERIOUS |
rs121907990 |
52511706 |
N1192S |
ENSG00000123191 |
ENST00000448424 |
ENSP00000416738 |
0 |
2.51 |
DELETERIOUS |
rs121907992 |
52511719 |
G1266R |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
0 |
2.46 |
DELETERIOUS |
rs121907992 |
52511719 |
G1059R |
ENSG00000123191 |
ENST00000344297 |
ENSP00000342559 |
0 |
2.43 |
DELETERIOUS |
rs121907992 |
52511719 |
G1155R |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
0 |
2.47 |
DELETERIOUS |
rs121907992 |
52511719 |
G836R |
ENSG00000123191 |
ENST00000400370 |
ENSP00000383221 |
0 |
2.53 |
DELETERIOUS |
rs121907992 |
52511719 |
G477R |
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
0 |
2.63 |
DELETERIOUS |
rs121907992 |
52511719 |
G1201R |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
0 |
2.46 |
DELETERIOUS |
rs121907992 |
52511719 |
G1188R |
ENSG00000123191 |
ENST00000448424 |
ENSP00000416738 |
0 |
2.51 |
DELETERIOUS |
rs121907993 |
52523908 |
R919W |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
0.001 |
2.46 |
DELETERIOUS |
rs121907993 |
52523908 |
R808W |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
0.001 |
2.46 |
DELETERIOUS |
rs121907993 |
52523908 |
R489W |
ENSG00000123191 |
ENST00000400370 |
ENSP00000383221 |
0.001 |
2.52 |
DELETERIOUS |
rs121907993 |
52523908 |
R919W |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
0.001 |
2.45 |
DELETERIOUS |
rs121907993 |
52523908 |
R841W |
ENSG00000123191 |
ENST00000448424 |
ENSP00000416738 |
0.001 |
2.5 |
DELETERIOUS |
rs121907993 |
52523908 |
R191W |
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
0.047 |
2.61 |
DELETERIOUS |
rs121907993 |
52523908 |
R919G |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
0.002 |
2.46 |
DELETERIOUS |
rs121907993 |
52523908 |
R808G |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
0.003 |
2.46 |
DELETERIOUS |
rs121907993 |
52523908 |
R919G |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
0.003 |
2.45 |
DELETERIOUS |
rs121907993 |
52523908 |
R841G |
ENSG00000123191 |
ENST00000448424 |
ENSP00000416738 |
0.003 |
2.5 |
DELETERIOUS |
rs121907993 |
52523908 |
R489G |
ENSG00000123191 |
ENST00000400370 |
ENSP00000383221 |
0.004 |
2.52 |
DELETERIOUS |
rs121907993 |
52523908 |
R191G |
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
0.088 |
2.61 |
TOLERATED |
rs121907996 |
52520574 |
R539Q |
ENSG00000123191 |
ENST00000400370 |
ENSP00000383221 |
0.383 |
2.53 |
TOLERATED |
rs121907996 |
52520574 |
R858Q |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
0.428 |
2.5 |
TOLERATED |
rs121907996 |
52520574 |
R762Q |
ENSG00000123191 |
ENST00000344297 |
ENSP00000342559 |
0.429 |
2.39 |
TOLERATED |
rs121907996 |
52520574 |
R969Q |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
0.442 |
2.49 |
TOLERATED |
rs121907996 |
52520574 |
R891Q |
ENSG00000123191 |
ENST00000448424 |
ENSP00000416738 |
0.459 |
2.52 |
TOLERATED |
rs121907996 |
52520574 |
R241Q |
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
0.763 |
2.7 |
TOLERATED |
rs121907997 |
52532505 |
T766R |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
0.001 |
2.45 |
DELETERIOUS |
rs121907997 |
52532505 |
T655R |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
0.001 |
2.46 |
DELETERIOUS |
rs121907997 |
52532505 |
T38R |
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
0.001 |
2.61 |
DELETERIOUS |
rs121907997 |
52532505 |
T766R |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
0.001 |
2.45 |
DELETERIOUS |
rs121907997 |
52532505 |
|
ENSG00000123191 |
ENST00000542656 |
ENSP00000443128 |
|
|
|
rs121907999 |
52548491 |
Q289* |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
|
|
|
rs121907999 |
52548491 |
Q289* |
ENSG00000123191 |
ENST00000344297 |
ENSP00000342559 |
|
|
|
rs121907999 |
52548491 |
Q289* |
ENSG00000123191 |
ENST00000400370 |
ENSP00000383221 |
|
|
|
rs121907999 |
52548491 |
Q289* |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
|
|
|
rs121907999 |
52548491 |
Q289* |
ENSG00000123191 |
ENST00000448424 |
ENSP00000416738 |
|
|
|
rs121907999 |
52548491 |
Q257* |
ENSG00000123191 |
ENST00000542656 |
ENSP00000443128 |
|
|
|
rs121908000 |
52532679 |
L708P |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
0.001 |
2.45 |
DELETERIOUS |
rs121908000 |
52532679 |
L597P |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
0.001 |
2.45 |
DELETERIOUS |
rs121908000 |
52532679 |
L708P |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
0.001 |
2.45 |
DELETERIOUS |
rs121908000 |
52532679 |
A483A |
ENSG00000123191 |
ENST00000542656 |
ENSP00000443128 |
0.527 |
3.13 |
TOLERATED |
rs121908000 |
52532679 |
|
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
|
|
|
rs137853279 |
52515247 |
G1176* |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
|
|
|
rs137853279 |
52515247 |
G969* |
ENSG00000123191 |
ENST00000344297 |
ENSP00000342559 |
|
|
|
rs137853279 |
52515247 |
G1065* |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
|
|
|
rs137853279 |
52515247 |
G746* |
ENSG00000123191 |
ENST00000400370 |
ENSP00000383221 |
|
|
|
rs137853279 |
52515247 |
G387* |
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
|
|
|
rs137853279 |
52515247 |
G1111* |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
|
|
|
rs137853279 |
52515247 |
G1098* |
ENSG00000123191 |
ENST00000448424 |
ENSP00000416738 |
|
|
|
rs137853279 |
52515247 |
G969R |
ENSG00000123191 |
ENST00000344297 |
ENSP00000342559 |
0 |
2.43 |
DELETERIOUS |
rs137853279 |
52515247 |
G746R |
ENSG00000123191 |
ENST00000400370 |
ENSP00000383221 |
0 |
2.53 |
DELETERIOUS |
rs137853279 |
52515247 |
G387R |
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
0 |
2.63 |
DELETERIOUS |
rs137853279 |
52515247 |
G1176R |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
0.001 |
2.47 |
DELETERIOUS |
rs137853279 |
52515247 |
G1065R |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
0.001 |
2.48 |
DELETERIOUS |
rs137853279 |
52515247 |
G1111R |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
0.001 |
2.46 |
DELETERIOUS |
rs137853279 |
52515247 |
G1098R |
ENSG00000123191 |
ENST00000448424 |
ENSP00000416738 |
0.001 |
2.52 |
DELETERIOUS |
rs137853283 |
52532466 |
W779* |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
|
|
|
rs137853283 |
52532466 |
W668* |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
|
|
|
rs137853283 |
52532466 |
W51* |
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
|
|
|
rs137853283 |
52532466 |
W779* |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
|
|
|
rs137853284 |
52532470 |
R778W |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
0 |
2.45 |
DELETERIOUS |
rs137853284 |
52532470 |
R667W |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
0 |
2.46 |
DELETERIOUS |
rs137853284 |
52532470 |
R50W |
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
0 |
2.61 |
DELETERIOUS |
rs137853284 |
52532470 |
R778W |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
0 |
2.45 |
DELETERIOUS |
rs137853284 |
52532470 |
R778G |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
0.001 |
2.45 |
DELETERIOUS |
rs137853284 |
52532470 |
R667G |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
0.001 |
2.46 |
DELETERIOUS |
rs137853284 |
52532470 |
R50G |
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
0.001 |
2.61 |
DELETERIOUS |
rs137853284 |
52532470 |
R778G |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
0.001 |
2.45 |
DELETERIOUS |
rs137853285 |
52532674 |
G710S |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
0.056 |
2.45 |
TOLERATED |
rs137853285 |
52532674 |
G599S |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
0.069 |
2.45 |
TOLERATED |
rs137853285 |
52532674 |
G710S |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
0.086 |
2.45 |
TOLERATED |
rs137853285 |
52532674 |
R485Q |
ENSG00000123191 |
ENST00000542656 |
ENSP00000443128 |
0.385 |
3.59 |
TOLERATED |
rs137853285 |
52532674 |
|
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
|
|
|
rs191312027 |
52524268 |
G869R |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
0.001 |
2.45 |
DELETERIOUS |
rs191312027 |
52524268 |
G707R |
ENSG00000123191 |
ENST00000344297 |
ENSP00000342559 |
0.001 |
2.38 |
DELETERIOUS |
rs191312027 |
52524268 |
G758R |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
0.001 |
2.45 |
DELETERIOUS |
rs191312027 |
52524268 |
G439R |
ENSG00000123191 |
ENST00000400370 |
ENSP00000383221 |
0.001 |
2.53 |
DELETERIOUS |
rs191312027 |
52524268 |
G141R |
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
0.001 |
2.61 |
DELETERIOUS |
rs191312027 |
52524268 |
G869R |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
0.001 |
2.44 |
DELETERIOUS |
rs191312027 |
52524268 |
G791R |
ENSG00000123191 |
ENST00000448424 |
ENSP00000416738 |
0.001 |
2.49 |
DELETERIOUS |
rs193922103 |
52532497 |
M769V |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
0.002 |
2.45 |
DELETERIOUS |
rs193922103 |
52532497 |
M769V |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
0.002 |
2.45 |
DELETERIOUS |
rs193922103 |
52532497 |
M658V |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
0.003 |
2.46 |
DELETERIOUS |
rs193922103 |
52532497 |
M41V |
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
0.265 |
2.61 |
TOLERATED |
rs193922107 |
52513227 |
T1220M |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
0 |
2.47 |
DELETERIOUS |
rs193922107 |
52513227 |
T1013M |
ENSG00000123191 |
ENST00000344297 |
ENSP00000342559 |
0 |
2.43 |
DELETERIOUS |
rs193922107 |
52513227 |
T1109M |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
0 |
2.48 |
DELETERIOUS |
rs193922107 |
52513227 |
T790M |
ENSG00000123191 |
ENST00000400370 |
ENSP00000383221 |
0 |
2.53 |
DELETERIOUS |
rs193922107 |
52513227 |
T431M |
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
0 |
2.63 |
DELETERIOUS |
rs193922107 |
52513227 |
T1155M |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
0 |
2.46 |
DELETERIOUS |
rs193922107 |
52513227 |
T1142M |
ENSG00000123191 |
ENST00000448424 |
ENSP00000416738 |
0 |
2.52 |
DELETERIOUS |
rs193922109 |
52511478 |
R1319* |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
|
|
|
rs193922109 |
52511478 |
R1112* |
ENSG00000123191 |
ENST00000344297 |
ENSP00000342559 |
|
|
|
rs193922109 |
52511478 |
R1208* |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
|
|
|
rs193922109 |
52511478 |
R889* |
ENSG00000123191 |
ENST00000400370 |
ENSP00000383221 |
|
|
|
rs193922109 |
52511478 |
R530* |
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
|
|
|
rs193922109 |
52511478 |
R1254* |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
|
|
|
rs193922109 |
52511478 |
R1241* |
ENSG00000123191 |
ENST00000448424 |
ENSP00000416738 |
|
|
|
rs201038679 |
52520505 |
P562L |
ENSG00000123191 |
ENST00000400370 |
ENSP00000383221 |
0 |
2.53 |
DELETERIOUS |
rs201038679 |
52520505 |
P992L |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
0.001 |
2.46 |
DELETERIOUS |
rs201038679 |
52520505 |
P785L |
ENSG00000123191 |
ENST00000344297 |
ENSP00000342559 |
0.001 |
2.39 |
DELETERIOUS |
rs201038679 |
52520505 |
P881L |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
0.001 |
2.46 |
DELETERIOUS |
rs201038679 |
52520505 |
P264L |
ENSG00000123191 |
ENST00000417240 |
ENSP00000390360 |
0.001 |
2.62 |
DELETERIOUS |
rs201038679 |
52520505 |
P914L |
ENSG00000123191 |
ENST00000448424 |
ENSP00000416738 |
0.001 |
2.5 |
DELETERIOUS |
rs372436901 |
52534436 |
S657R |
ENSG00000123191 |
ENST00000242839 |
ENSP00000242839 |
0.001 |
2.46 |
DELETERIOUS |
rs372436901 |
52534436 |
S546R |
ENSG00000123191 |
ENST00000400366 |
ENSP00000383217 |
0.001 |
2.46 |
DELETERIOUS |
rs372436901 |
52534436 |
S657R |
ENSG00000123191 |
ENST00000418097 |
ENSP00000393343 |
0.001 |
2.45 |
DELETERIOUS |
rs372436901 |
52534436 |
S657R |
ENSG00000123191 |
ENST00000448424 |
ENSP00000416738 |
0.001 |
2.49 |
DELETERIOUS |
Evolutionary analysis of coding SNPs
SNP |
Substitution |
Probability of deleterious effect |
Pdel |
rs28942074 |
R778L |
probably damaging |
0.89 |
rs28942076 |
G943S |
probably damaging |
0.95 |
rs28942076 |
G943S |
probably damaging |
0.95 |
rs28942076 |
I1148T |
probably damaging |
0.74 |
rs60431989 |
T977M |
probably damaging |
0.85 |
rs72552255 |
D642H |
probably damaging |
0.78 |
rs72552285 |
D642H |
probably damaging |
0.78 |
rs72552285 |
D642H |
probably damaging |
0.78 |
rs72552285 |
H639Q |
probably damaging |
0.57 |
rs76151636 |
H1069Q |
probably damaging |
0.95 |
rs76151636 |
N1270S |
probably damaging |
0.95 |
rs121907990 |
G1266R |
probably damaging |
0.95 |
rs121907992 |
G836R |
probably damaging |
0.95 |
rs121907992 |
R919W |
probably benign |
0.27 |
rs121907993 |
R919W |
probably benign |
0.27 |
rs121907993 |
R919G |
probably benign |
0.27 |
rs121907993 |
R919G |
probably benign |
0.27 |
rs121907996 |
R969Q |
probably damaging |
0.74 |
rs121907996 |
T766R |
probably damaging |
0.89 |
rs121907997 |
T766R |
probably damaging |
0.89 |
rs121907997 |
L708P |
probably benign |
0.13 |
rs121907997 |
L708P |
probably benign |
0.13 |
rs121907999 |
G1176R |
probably damaging |
0.95 |
rs121908000 |
G1111R |
probably benign |
0.27 |
rs121908000 |
R778W |
probably damaging |
0.89 |
rs137853279 |
R778W |
probably damaging |
0.89 |
rs137853279 |
R778G |
probably damaging |
0.89 |
rs137853279 |
R778G |
probably damaging |
0.89 |
rs137853279 |
G710S |
probably damaging |
0.86 |
rs137853279 |
G710S |
probably damaging |
0.86 |
rs137853279 |
G869R |
probably damaging |
0.95 |
rs137853283 |
G869R |
probably damaging |
0.95 |
rs137853283 |
M769V |
probably damaging |
0.89 |
rs137853283 |
M769V |
probably damaging |
0.89 |
rs137853284 |
T1220M |
probably damaging |
0.95 |
rs137853285 |
P992L |
probably damaging |
0.95 |
rs191312027 |
S657R |
probably damaging |
0.89 |
rs191312027 |
S657R |
probably damaging |
0.89 |
rs191312027 |
S657R |
probably damaging |
0.89 |
Provean
SNP Id’s |
Amino Acid Change |
Probability |
Prediction |
Score |
rs28942074 |
77R8L |
Damaging |
Deleterious |
-5.64 |
rs28942074 |
R667L |
Damaging |
Deleterious |
-5.8 |
rs28942074 |
R778L |
Damaging |
Deleterious |
-5.45 |
rs28942074 |
R50L |
Damaging |
Deleterious |
-6.1 |
rs28942076 |
G513S |
Damaging |
Deleterious |
-5.42 |
rs28942076 |
G943S |
Damaging |
Deleterious |
-5.36 |
rs28942076 |
G943S |
Damaging |
Deleterious |
-5.56 |
rs28942076 |
G865S |
Damaging |
Deleterious |
-5.47 |
rs28942076 |
G215S |
Damaging |
Deleterious |
-5.76 |
rs28942076 |
G832S |
Damaging |
Deleterious |
-5.49 |
rs60431989 |
I1148T |
Damaging |
Deleterious |
-4.44 |
rs60431989 |
I941T |
Damaging |
Deleterious |
-4.37 |
rs60431989 |
I718T |
Damaging |
Deleterious |
-4.61 |
rs60431989 |
I359T |
Damaging |
Deleterious |
-4.89 |
rs60431989 |
I1083T |
Damaging |
Deleterious |
-4.29 |
rs60431989 |
I1070T |
Damaging |
Deleterious |
-4.5 |
rs60431989 |
I1037T |
Damaging |
Deleterious |
-4.61 |
rs72552255 |
T977M |
Damaging |
Deleterious |
-5.18 |
rs72552255 |
T770M |
Damaging |
Deleterious |
-4.91 |
rs72552255 |
T866M |
Damaging |
Deleterious |
-5.18 |
rs72552255 |
T547M |
Damaging |
Deleterious |
-5.13 |
rs72552255 |
T899M |
Damaging |
Deleterious |
-4.8 |
rs72552255 |
T249M |
Damaging |
Deleterious |
-4.72 |
rs72552285 |
D642H |
Damaging |
Deleterious |
-5.18 |
rs72552285 |
D531H |
Damaging |
Deleterious |
-5.72 |
rs72552285 |
D642H |
Damaging |
Deleterious |
-5.35 |
rs72552285 |
D642H |
Damaging |
Deleterious |
-5.8 |
rs76151636 |
H862Q |
Damaging |
Deleterious |
-7.33 |
rs76151636 |
H639Q |
Damaging |
Deleterious |
-7.51 |
rs76151636 |
H991Q |
Damaging |
Deleterious |
-7.6 |
rs76151636 |
H1069Q |
Damaging |
Deleterious |
-7.5 |
rs76151636 |
H958Q |
Damaging |
Deleterious |
-7.5 |
rs76151636 |
H1004Q |
Damaging |
Deleterious |
-7.23 |
rs121907990 |
N1270S |
Damaging |
Deleterious |
-4.54 |
rs121907990 |
N1063S |
Damaging |
Deleterious |
-4.46 |
rs121907990 |
N1159S |
Damaging |
Deleterious |
-4.71 |
rs121907990 |
N840S |
Damaging |
Deleterious |
-4.71 |
rs121907990 |
N481S |
Damaging |
Deleterious |
-4.93 |
rs121907990 |
N1205S |
Damaging |
Deleterious |
-4.37 |
rs121907990 |
N1192S |
Tolerated |
Deleterious |
-4.58 |
rs121907992 |
G1266R |
Damaging |
Deleterious |
-7.26 |
rs121907992 |
G1059R |
Damaging |
Deleterious |
-7.13 |
rs121907992 |
G1155R |
Damaging |
Deleterious |
-7.53 |
rs121907992 |
G836R |
Damaging |
Deleterious |
-7.53 |
rs121907992 |
G477R |
Damaging |
Deleterious |
-7.89 |
rs121907992 |
G1201R |
Damaging |
Deleterious |
-7 |
rs121907992 |
G1188R |
Damaging |
Deleterious |
-7.32 |
rs121907993 |
R919W |
Damaging |
Deleterious |
-5.61 |
rs121907993 |
R808W |
Damaging |
Deleterious |
-5.42 |
rs121907993 |
R489W |
Damaging |
Deleterious |
-5.64 |
rs121907993 |
R919W |
Damaging |
Deleterious |
-5.18 |
rs121907993 |
R841W |
Damaging |
Deleterious |
-5.58 |
rs121907993 |
R191W |
Tolerated |
Deleterious |
-5.54 |
rs121907993 |
R919G |
Damaging |
Deleterious |
-4.71 |
rs121907993 |
R808G |
Damaging |
Deleterious |
-4.54 |
rs121907993 |
R919G |
Damaging |
Deleterious |
-4.33 |
rs121907993 |
R841G |
Damaging |
Deleterious |
-4.71 |
rs121907993 |
R489G |
Damaging |
Deleterious |
-4.84 |
rs121907993 |
R191G |
Damaging |
Deleterious |
-4.64 |
rs121907996 |
R539Q |
Tolerated |
Neutral |
-1.75 |
rs121907996 |
R858Q |
Tolerated |
Neutral |
-2.19 |
rs121907996 |
R762Q |
Tolerated |
Neutral |
-2.1 |
rs121907996 |
R969Q |
Tolerated |
Neutral |
-2.1 |
rs121907996 |
R891Q |
Tolerated |
Neutral |
-1.66 |
rs121907996 |
R241Q |
Tolerated |
Neutral |
-1.84 |
rs121907997 |
T766R |
Damaging |
Deleterious |
-4.74 |
rs121907997 |
T655R |
Damaging |
Deleterious |
-4.87 |
rs121907997 |
T38R |
Damaging |
Deleterious |
-5.3 |
rs121907997 |
T766R |
Damaging |
Deleterious |
-4.57 |
rs121908000 |
L708P |
Damaging |
Deleterious |
-3.56 |
rs121908000 |
L597P |
Damaging |
Deleterious |
-3.4 |
rs121908000 |
L708P |
Damaging |
Deleterious |
-3.18 |
rs121908000 |
A483A |
Tolerated |
Neutral |
0 |
rs137853279 |
G969R |
Damaging |
Deleterious |
-6.96 |
rs137853279 |
G746R |
Damaging |
Deleterious |
-7.36 |
rs137853279 |
G387R |
Damaging |
Deleterious |
-7.5 |
rs137853279 |
G1176R |
Damaging |
Deleterious |
-7.09 |
rs137853279 |
G1065R |
Damaging |
Deleterious |
-7.36 |
rs137853279 |
G1111R |
Damaging |
Deleterious |
-6.83 |
rs137853279 |
G1098R |
Damaging |
Deleterious |
-7.19 |
rs137853284 |
R778W |
Damaging |
Deleterious |
-6.45 |
rs137853284 |
R667W |
Damaging |
Deleterious |
-6.63 |
rs137853284 |
R50W |
Damaging |
Deleterious |
-6.98 |
rs137853284 |
R778W |
Damaging |
Deleterious |
-6.23 |
rs137853284 |
R778G |
Damaging |
Deleterious |
-5.64 |
rs137853284 |
R667G |
Damaging |
Deleterious |
-5.8 |
rs137853284 |
R50G |
Damaging |
Deleterious |
-6.15 |
rs137853284 |
R778G |
Damaging |
Deleterious |
-5.45 |
rs137853285 |
G710S |
Damaging |
Deleterious |
-4.41 |
rs137853285 |
G599S |
Damaging |
Deleterious |
-4.83 |
rs137853285 |
G710S |
Damaging |
Deleterious |
-4.89 |
rs137853285 |
R485Q |
Tolerated |
Neutral |
0.32 |
rs191312027 |
G869R |
Damaging |
Deleterious |
-7.36 |
rs191312027 |
G707R |
Damaging |
Deleterious |
-6.31 |
rs191312027 |
G758R |
Damaging |
Deleterious |
-7.04 |
rs191312027 |
G439R |
Damaging |
Deleterious |
-6.81 |
rs191312027 |
G141R |
Damaging |
Deleterious |
-6.39 |
rs191312027 |
G869R |
Damaging |
Deleterious |
-6.64 |
rs191312027 |
G791R |
Damaging |
Deleterious |
-6.97 |
rs193922103 |
M769V |
Damaging |
Deleterious |
-3.23 |
rs193922103 |
M769V |
Damaging |
Deleterious |
-3.11 |
rs193922103 |
M658V |
Damaging |
Deleterious |
-3.31 |
rs193922103 |
M41V |
Tolerated |
Deleterious |
-3.42 |
rs193922107 |
T1220M |
Damaging |
Deleterious |
-5.37 |
rs193922107 |
T1013M |
Damaging |
Deleterious |
-5.35 |
rs193922107 |
T1109M |
Damaging |
Deleterious |
-5.57 |
rs193922107 |
T790M |
Damaging |
Deleterious |
-5.65 |
rs193922107 |
T431M |
Damaging |
Deleterious |
-5.72 |
rs193922107 |
T1155M |
Damaging |
Deleterious |
-5.17 |
rs193922107 |
T1142M |
Damaging |
Deleterious |
-5.53 |
rs201038679 |
P562L |
Damaging |
Deleterious |
-9.03 |
rs201038679 |
P992L |
Damaging |
Deleterious |
-8.93 |
rs201038679 |
P785L |
Damaging |
Deleterious |
-8.47 |
rs201038679 |
P881L |
Damaging |
Deleterious |
-9.15 |
rs201038679 |
P264L |
Damaging |
Deleterious |
-9.5 |
rs201038679 |
P914L |
Damaging |
Deleterious |
-8.94 |
rs372436901 |
S657R |
Damaging |
Deleterious |
-4.32 |
rs372436901 |
S546R |
Damaging |
Deleterious |
-4.27 |
rs372436901 |
S657R |
Damaging |
Deleterious |
-4.02 |
rs372436901 |
S657R |
Tolerated |
Deleterious |
-4.25 |
SNAP2
Wildtype amino acid |
Position |
Variant Amino Acid |
Predicted Effect |
Score |
Expected Accuracy |
R |
778 |
L |
Effect |
75 |
95% |
R |
667 |
L |
Effect |
29 |
95% |
R |
778 |
L |
Effect |
87 |
95% |
R |
50 |
L |
Effect |
56 |
95% |
G |
513 |
Q |
Effect |
34 |
95% |
G |
943 |
S |
Effect |
78 |
95% |
G |
943 |
S |
Effect |
90 |
95% |
G |
865 |
S |
Neutral |
45 |
85% |
G |
215 |
S |
Effect |
75 |
85% |
G |
832 |
S |
Effect |
34 |
85% |
I |
1148 |
T |
Effect |
67 |
85% |
I |
941 |
T |
Effect |
98 |
65% |
I |
718 |
T |
Effect |
12 |
65% |
I |
359 |
T |
Effect |
79 |
65% |
I |
1083 |
T |
Effect |
34 |
65% |
I |
1070 |
T |
Effect |
87 |
65% |
I |
1037 |
T |
Neutral |
76 |
95% |
T |
977 |
M |
Effect |
34 |
75% |
T |
770 |
M |
Effect |
78 |
65% |
T |
866 |
M |
Effect |
12 |
85% |
T |
547 |
M |
Effect |
78 |
65% |
T |
899 |
M |
Effect |
90 |
85% |
T |
249 |
M |
Neutral |
56 |
75% |
D |
642 |
H |
Neutral |
65 |
45% |
D |
531 |
H |
Neutral |
89 |
85% |
D |
642 |
H |
Effect |
76 |
95% |
D |
642 |
H |
Effect |
45 |
85% |
H |
862 |
Q |
Effect |
34 |
65% |
H |
639 |
E |
Effect |
-29 |
45% |
H |
991 |
Q |
Effect |
67 |
25% |
H |
1069 |
Q |
Effect |
35 |
95% |
H |
958 |
Q |
Effect |
65 |
85% |
H |
1004 |
Q |
Neutral |
75 |
75% |
N |
1270 |
S |
Effect |
98 |
55% |
N |
1063 |
S |
Neutral |
85 |
45% |
N |
630 |
K |
Effect |
45 |
76% |
N |
840 |
K |
Effect |
-26 |
46% |
N |
481 |
S |
Effect |
75 |
76% |
N |
1205 |
S |
Neutral |
76
|
47% |
N |
1992 |
S |
Effect |
90 |
95% |
G |
1266 |
R |
Neutral |
65 |
95% |
G |
1059 |
R |
Effect |
87 |
95% |
G |
1155 |
R |
Neutral |
45 |
95% |
G |
836 |
R |
Effect |
34 |
95% |
G |
477 |
R |
Neutral |
-67 |
95% |
G |
1201 |
R |
Effect |
-29 |
95% |
G |
1188 |
R |
Neutral |
67 |
85% |
R |
919 |
W |
Effect |
34 |
85% |
R |
808 |
W |
Effect |
54 |
85% |
R |
489 |
W |
Effect |
56 |
85% |
R |
919 |
W |
Effect |
45 |
65% |
R |
841 |
W |
Effect |
78 |
65% |
R |
191 |
W |
Effect |
24 |
65% |
R |
919 |
G |
Effect |
90 |
65% |
R |
808 |
G |
Effect |
89 |
65% |
R |
919 |
G |
Effect |
78 |
95% |
R |
841 |
G |
Effect |
56 |
75% |
R |
489 |
G |
Neutral |
89 |
65% |
R |
191 |
G |
Neutral |
57 |
85% |
R |
539 |
Q |
Neutral |
46 |
65% |
R |
858 |
Q |
Effect |
47 |
85% |
R |
762 |
Q |
Effect |
98 |
75% |
R |
969 |
Q |
Neutral |
87 |
45% |
R |
891 |
Q |
Effect |
67 |
85% |
R |
241 |
Q |
Neutral |
56 |
95% |
T |
766 |
R |
Effect |
49 |
85% |
T |
655 |
R |
Neutral |
87 |
65% |
T |
38 |
R |
Effect |
76 |
45% |
T |
766 |
R |
Neutral |
56 |
25% |
L |
708 |
P |
Neutral |
65 |
95% |
L |
597 |
P |
Effect |
89 |
85% |
L |
708 |
P |
Effect |
76 |
75% |
A |
483 |
A |
Effect |
45 |
55% |
G |
969 |
R |
Effect |
34 |
45% |
G |
746 |
R |
Effect |
-29 |
76% |
G |
387 |
R |
Effect |
67 |
46% |
G |
1176 |
R |
Neutral |
56 |
76% |
G |
1065 |
R |
Neutral |
65 |
47% |
G |
1111 |
R |
Neutral |
89 |
95% |
G |
1098 |
R |
Neutral |
76 |
95% |
R |
778 |
W |
Effect |
45 |
95% |
R |
667 |
W |
Effect |
34 |
95% |
R |
50 |
W |
Effect |
-29 |
95% |
R |
778 |
W |
Effect |
67 |
95% |
R |
778 |
G |
Effect |
56 |
95% |
R |
667 |
G |
Effect |
65 |
85% |
R |
50 |
G |
Neutral |
89 |
85% |
R |
778 |
G |
Effect |
76 |
85% |
G |
710 |
S |
Effect |
45 |
85% |
G |
599 |
S |
Effect |
34 |
65% |
G |
710 |
S |
Effect |
-29 |
65% |
R |
485 |
Q |
Neutral |
67 |
65% |
G |
869 |
R |
Neutral |
56 |
65% |
G |
707 |
R |
Effect |
65 |
65% |
G |
758 |
R |
Effect |
89 |
95% |
G |
439 |
R |
Effect |
76 |
75% |
G |
141 |
R |
Neutral |
45 |
65% |
G |
869 |
R |
Neutral |
34 |
85% |
G |
791 |
R |
Effect |
-29 |
65% |
M |
769 |
V |
Effect |
67 |
85% |
M |
769 |
V |
Effect |
56 |
75% |
M |
658 |
V |
Neutral |
65 |
45% |
M |
41 |
V |
Neutral |
89 |
85% |
T |
1220 |
M |
Effect |
76 |
95% |
T |
1013 |
M |
Effect |
45 |
85% |
T |
1109 |
M |
Effect |
34 |
65% |
T |
790 |
M |
Effect |
-29 |
45% |
T |
431 |
M |
Effect |
67 |
25% |
T |
1155 |
M |
Effect |
56 |
95% |
T |
1142 |
M |
Effect |
65 |
85% |
P |
562 |
L |
Effect |
89 |
75% |
P |
992 |
L |
Effect |
76 |
55% |
P |
785 |
L |
Effect |
45 |
45% |
P |
881 |
L |
Effect |
34 |
76% |
P |
264 |
L |
Effect |
-29 |
46% |
P |
914 |
L |
Effect |
67 |
76% |
S |
657 |
R |
Effect |
56 |
47% |
S |
546 |
R |
Effect |
45 |
67% |
S |
657 |
R |
Effect |
34 |
56% |
S |
657 |
R |
Effect |
27 |
89% |
Polyphen 2
Rs_Id |
Mutation Probability |
Score |
rs28942074 |
Probably damaging |
0.999 |
rs28942074 |
Probably damaging |
0.999 |
rs28942074 |
Probably damaging |
0.98 |
rs28942074 |
Possibly damaging |
1.00 |
rs28942076 |
Possibly damaging |
0.999 |
rs28942076 |
Probably damaging |
0.999 |
rs28942076 |
Probably damaging |
0.999 |
rs28942076 |
Probably damaging |
0.98 |
rs28942076 |
Possibly damaging |
1.00 |
rs28942076 |
Possibly damaging |
0.999 |
rs60431989 |
Possibly damaging |
1.00 |
rs60431989 |
Possibly damaging |
0.999 |
rs60431989 |
Probably damaging |
0.999 |
rs60431989 |
Probably damaging |
0.98 |
rs60431989 |
Possibly damaging |
1.00 |
rs60431989 |
Possibly damaging |
0.999 |
rs60431989 |
Probably damaging |
0.999 |
rs72552255 |
Possibly damaging |
1.00 |
rs72552255 |
Possibly damaging |
0.999 |
rs72552255 |
Probably damaging |
0.999 |
rs72552255 |
Probably damaging |
0.999 |
rs72552255 |
Probably damaging |
0.999 |
rs72552255 |
Probably damaging |
0.98 |
rs72552285 |
Possibly damaging |
1.00 |
rs72552285 |
Probably damaging |
0.999 |
rs72552285 |
Probably damaging |
0.999 |
rs72552285 |
Probably damaging |
0.98 |
rs76151636 |
Possibly damaging |
1.00 |
rs76151636 |
Probably damaging |
1.00 |
rs76151636 |
Probably damaging |
0.98 |
rs76151636 |
Possibly damaging |
0.999 |
rs76151636 |
Probably damaging |
0.98 |
rs76151636 |
Probably damaging |
0.999 |
rs121907990 |
Probably damaging |
0.98 |
rs121907990 |
Possibly damaging |
1.00 |
rs121907990 |
Probably damaging |
0.999 |
rs121907990 |
Probably damaging |
0.999 |
rs121907990 |
Probably damaging |
0.98 |
rs121907990 |
Possibly damaging |
0.98 |
rs121907990 |
Possibly damaging |
1.00 |
rs121907992 |
Probably damaging |
0.999 |
rs121907992 |
Probably damaging |
0.98 |
rs121907992 |
Possibly damaging |
0.98 |
rs121907992 |
Possibly damaging |
1.00 |
rs121907992 |
Probably damaging |
0.98 |
rs121907992 |
Possibly damaging |
1.00 |
rs121907992 |
Probably damaging |
0.999 |
rs121907993 |
Probably damaging |
0.999 |
rs121907993 |
Possibly damaging |
1.00 |
rs121907993 |
Probably damaging |
0.999 |
Hope Prediction
Rs_Ids |
Mutation |
Mapping Issues |
AA Variant |
Function Impact |
Score |
rs28942074 |
ATP7B_77R8L |
|
77R8L |
High |
7.88 |
rs28942074 |
ATP7B_R667L |
Uniprot Residue:T |
R667L |
High |
6.12 |
rs28942074 |
ATP7B_R778L |
|
R778L |
Low |
0.45 |
rs28942074 |
ATP7B_R50L |
|
R50L |
Medium |
4.82 |
rs28942076 |
ATP7B_G513S |
|
G513S |
Medium |
2.16 |
rs28942076 |
ATP7B_G943S |
|
G943S |
Low |
0.65 |
rs28942076 |
ATP7B_G943S |
Uniprot Residue:M |
G943S |
High |
6.62 |
rs28942076 |
ATP7B_G865S |
|
G865S |
Low |
1.5 |
rs28942076 |
ATP7B_G215S |
|
G215S |
Medium |
2.82 |
rs28942076 |
ATP7B_G832S |
|
G832S |
low |
4.56 |
rs60431989 |
ATP7B_I1148T |
|
I1148T |
High |
5.94 |
rs60431989 |
ATP7B_I941T |
|
I941T |
Medium |
4.3 |
rs60431989 |
ATP7B_I718T |
Uniprot Residue:L |
I718T |
Low |
0.65 |
rs60431989 |
ATP7B_I359T |
|
I359T |
High |
6.62 |
rs60431989 |
ATP7B_I1083T |
|
I1083T |
Medium |
2.16 |
rs60431989 |
ATP7B_I1070T |
|
I1070T |
Low |
0.82 |
rs60431989 |
ATP7B_I1037T |
|
I1037T |
Medium |
5.23 |
rs72552255 |
ATP7B_T977M |
|
T977M |
Medium |
5.23 |
rs72552255 |
ATP7B_T770M |
|
T770M |
Medium |
2.62 |
rs72552255 |
ATP7B_T866M |
|
T866M |
Medium |
2.62 |
rs72552255 |
ATP7B_T547M |
|
T547M |
Low |
1.59 |
rs72552255 |
ATP7B_T899M |
|
T899M |
Medium |
2.16 |
rs72552255 |
ATP7B_T249M |
|
T249M |
Medium |
2.16 |
rs72552285 |
ATP7B_D642H |
Uniprot Residue:V |
D642H |
High |
6.62 |
rs72552285 |
ATP7B_D531H |
|
D531H |
Low |
0.82 |
rs72552285 |
ATP7B_D642H |
|
D642H |
Medium |
5.23 |
rs72552285 |
ATP7B_D642H |
|
D642H |
Medium |
5.23 |
rs76151636 |
ATP7B_H862Q |
|
H862Q |
Medium |
2.62 |
rs76151636 |
ATP7B_H639Q |
Uniprot Residue:N |
H639Q |
Medium |
2.62 |
rs76151636 |
ATP7B_H991Q |
|
H991Q |
Low |
1.59 |
rs76151636 |
ATP7B_H1069Q |
|
H1069Q |
Medium |
2.16 |
rs76151636 |
ATP7B_H958Q |
|
H958Q |
Medium |
2.16 |
rs76151636 |
ATP7B_H1004Q |
|
H1004Q |
High |
6.62 |
rs121907990 |
ATP7B_N1270S |
|
N1270S |
Low |
0.82 |
rs121907990 |
ATP7B_N1063S |
|
N1063S |
Medium |
5.23 |
rs121907990 |
ATP7B_N1159S |
|
N1159S |
Medium |
5.23 |
rs121907990 |
ATP7B_N840S |
|
N840S |
High |
6.23 |
rs121907990 |
ATP7B_N481S |
|
N481S |
Medium |
3.55 |
rs121907990 |
ATP7B_N1205S |
|
N1205S |
Medium |
4.3 |
rs121907990 |
ATP7B_N1192S |
Uniprot Residue:V |
N1192S |
Low |
1.45 |
rs121907992 |
ATP7B_G1266R |
|
G1266R |
Low |
0.98 |
rs121907992 |
ATP7B_G1059R |
|
G1059R |
Medium |
4.56 |
rs121907992 |
ATP7B_G1155R |
Uniprot Residue:C |
G1155R |
Medium |
3.67 |
Nil
Number of amino acids
|
1465
|
Molecular weight
|
157262.66
|
Theoretical pI
|
6.25
|
Amino acid composition
|
Ala (A) 134 9.1%
Arg (R) 53 3.6%
Asn (N) 49 3.3%
Asp (D) 61 4.2%
Cys (C) 29 2.0%
Gln (Q) 69 4.7%
Glu (E) 80 5.5%
Gly (G) 106 7.2%
His (H) 36 2.5%
Ile (I) 106 7.2%
Leu (L) 132 9.0%
Lys (K) 74 5.1%
Met (M) 44 3.0%
Phe (F) 36 2.5%
Pro (P) 72 4.9%
Ser (S) 126 8.6%
Thr (T) 82 5.6%
Trp (W) 11 0.8%
Tyr (Y) 24 1.6%
Val (V) 141 9.6%
Pyl (O) 0 0.0%
Sec (U) 0 0.0%
(B) 0 0.0%
(Z) 0 0.0%
(X) 0 0.0%
|
Total number of negatively charged residues (Asp + Glu)
|
141
|
Total number of positively charged residues (Arg + Lys)
|
127
|
Formula
|
C6944H11263N1899O2098S73
|
Total number of atoms()
|
22277
|
Instability index(II)
|
44.91
|
Stability
|
unstable
|
Aliphatic index(AI)
|
100.42
|
GRAVY
|
0.111
|
Alpha helix (Hh) : 555 is 37.88% 310 helix (Gg) : 0 is 0.00% Pi helix (Ii) : 0 is 0.00% Beta bridge (Bb) : 0 is 0.00% Extended strand (Ee) : 213 is 14.54% Beta turn (Tt) : 0 is 0.00% Bend region (Ss) : 0 is 0.00% Random coil (Cc) : 697 is 47.58% Ambiguous states (?) : 0 is 0.00% Other states : 0 is 0.00%
|
Secondary Structure Prediction
Amino Acid Type
Name of enzyme |
No. of cleavages |
Arg-C proteinase |
53 |
Asp-N endopeptidase |
61 |
Asp-N endopeptidase + N-terminal Glu |
141 |
BNPS-Skatole |
11 |
CNBr |
44 |
Caspase1 |
1 |
Chymotrypsin-high specificity (C-term to [FYW], not before P) |
67 |
Chymotrypsin-low specificity (C-term to [FYWML], not before P) |
266 |
Clostripain |
53 |
Formic acid |
61 |
Glutamylendopeptidase |
80 |
Iodosobenzoic acid |
11 |
Hydroxylamine |
4 |
LysC |
74 |
LysN |
74 |
NTCB (2-nitro-5-thiocyanobenzoic acid) |
29 |
Pepsin (pH1.3) |
255 |
Pepsin (pH>2) |
301 |
Proline-endopeptidase |
8 |
Proteinase K |
746 |
Staphylococcal peptidase I |
73 |
Thermolysin |
506 |
Thrombin |
1 |
Trypsin |
120 |
Rank |
Start Position |
Sequence |
Score |
Prediction |
1 |
|
QGTCSTTLIAIAGMTC |
|
Epitope |
1 |
|
|
|
Epitope |
1 |
1218 |
|
|
Epitope
|
1 |
|
TGTITHGVPRVMRVLL |
|
Epitope |
2
|
|
TVLCIACPCSLGLATP |
0.90 |
Epitope |
2 |
|
DPEIIGPRDIIKIIEE |
0.90 |
Epitope |
2 |
|
|
0.90 |
Epitope |
2 |
|
|
0.90 |
Epitope |
3 |
911 |
APIQQLADRFSGYFVP |
0.89 |
Epitope |
3 |
312 |
QRAIEALPPGNFKVSL |
0.89 |
Epitope |
4 |
|
|
0.89 |
Epitope |
No of Nodes |
11 |
No of Edges |
40 |
Avg node degree |
7.27 |
avg. local clustering coefficient |
0.939 |
expected number of edges |
14 |
p-value |
5.02e-09
|
Protein – Protein Interaction network |
|
RNA Base Pairing Probability Plot