Disease Name: Aniridia
>sp|P26367|PAX6_HUMAN Paired box protein Pax-6 OS=Homo sapiens OX=9606 GN=PAX6 PE=1 SV=2
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVSNGCVSKILGRY
YETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSV
SSINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQ
EGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFAR
ERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIP
QPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPT
SPSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPR
LQ
>NM_000280.3 Homo sapiens paired box 6 (PAX6), transcript variant 1, mRNA
GGTGCATTTGCATGTTGCGGAGTGATTAGTGGGTTTGAAAAGGGAACCGTGGCTCGGCCTCATTTCCCGC
TCTGGTTCAGGCGCAGGAGGAAGTGTTTTGCTGGAGGATGATGACAGAGGTCAGGCTTCGCTAATGGGCC
AGTGAGGAGCGGTGGAGGCGAGGCCGGGCGCCGGCACACACACATTAACACACTTGAGCCATCACCAATC
AGCATAGGAATCTGAGAATTGCTCTCACACACCAACCCAGCAACATCCGTGGAGAAAACTCTCACCAGCA
ACTCCTTTAAAACACCGTCATTTCAAACCATTGTGGTCTTCAAGCAACAACAGCAGCACAAAAAACCCCA
ACCAAACAAAACTCTTGACAGAAGCTGTGACAACCAGAAAGGATGCCTCATAAAGGGGGAAGACTTTAAC
TAGGGGCGCGCAGATGTGTGAGGCCTTTTATTGTGAGAGTGGACAGACATCCGAGATTTCAGAGCCCCAT
ATTCGAGCCCCGTGGAATCCCGCGGCCCCCAGCCAGAGCCAGCATGCAGAACAGTCACAGCGGAGTGAAT
CAGCTCGGTGGTGTCTTTGTCAACGGGCGGCCACTGCCGGACTCCACCCGGCAGAAGATTGTAGAGCTAG
CTCACAGCGGGGCCCGGCCGTGCGACATTTCCCGAATTCTGCAGGTGTCCAACGGATGTGTGAGTAAAAT
TCTGGGCAGGTATTACGAGACTGGCTCCATCAGACCCAGGGCAATCGGTGGTAGTAAACCGAGAGTAGCG
ACTCCAGAAGTTGTAAGCAAAATAGCCCAGTATAAGCGGGAGTGCCCGTCCATCTTTGCTTGGGAAATCC
GAGACAGATTACTGTCCGAGGGGGTCTGTACCAACGATAACATACCAAGCGTGTCATCAATAAACAGAGT
TCTTCGCAACCTGGCTAGCGAAAAGCAACAGATGGGCGCAGACGGCATGTATGATAAACTAAGGATGTTG
AACGGGCAGACCGGAAGCTGGGGCACCCGCCCTGGTTGGTATCCGGGGACTTCGGTGCCAGGGCAACCTA
CGCAAGATGGCTGCCAGCAACAGGAAGGAGGGGGAGAGAATACCAACTCCATCAGTTCCAACGGAGAAGA
TTCAGATGAGGCTCAAATGCGACTTCAGCTGAAGCGGAAGCTGCAAAGAAATAGAACATCCTTTACCCAA
GAGCAAATTGAGGCCCTGGAGAAAGAGTTTGAGAGAACCCATTATCCAGATGTGTTTGCCCGAGAAAGAC
TAGCAGCCAAAATAGATCTACCTGAAGCAAGAATACAGGTATGGTTTTCTAATCGAAGGGCCAAATGGAG
AAGAGAAGAAAAACTGAGGAATCAGAGAAGACAGGCCAGCAACACACCTAGTCATATTCCTATCAGCAGT
AGTTTCAGCACCAGTGTCTACCAACCAATTCCACAACCCACCACACCGGTTTCCTCCTTCACATCTGGCT
CCATGTTGGGCCGAACAGACACAGCCCTCACAAACACCTACAGCGCTCTGCCGCCTATGCCCAGCTTCAC
CATGGCAAATAACCTGCCTATGCAACCCCCAGTCCCCAGCCAGACCTCCTCATACTCCTGCATGCTGCCC
ACCAGCCCTTCGGTGAATGGGCGGAGTTATGATACCTACACCCCCCCACATATGCAGACACACATGAACA
GTCAGCCAATGGGCACCTCGGGCACCACTTCAACAGGACTCATTTCCCCTGGTGTGTCAGTTCCAGTTCA
AGTTCCCGGAAGTGAACCTGATATGTCTCAATACTGGCCAAGATTACAGTAAAAAAAAAAAAAAAAAAAA
AAAGGAAAGGAAATATTGTGTTAATTCAGTCAGTGACTATGGGGACACAACAGTTGAGCTTTCAGGAAAG
AAAGAAAAATGGCTGTTAGAGCCGCTTCAGTTCTACAATTGTGTCCTGTATTGTACCACTGGGGAAGGAA
TGGACTTGAAACAAGGACCTTTGTATACAGAAGGCACGATATCAGTTGGAACAAATCTTCATTTTGGTAT
CCAAACTTTTATTCATTTTGGTGTATTATTTGTAAATGGGCATTTGTATGTTATAATGAAAAAAAGAACA
ATGTAGACTGGATGGATGTTTGATCTGTGTTGGTCATGAAGTTGTTTTTTTTTTTTTTAAAAAGAAAACC
ATGATCAACAAGCTTTGCCACGAATTTAAGAGTTTTATCAAGATATATCGAATACTTCTACCCATCTGTT
CATAGTTTATGGACTGATGTTCCAAGTTTGTATCATTCCTTTGCATATAATTAAACCTGGAACAACATGC
ACTAGATTTATGTCAGAAATATCTGTTGGTTTTCCAAAGGTTGTTAACAGATGAAGTTTATGTGCAAAAA
AGGGTAAGATATAAATTCAAGGAAGAAAAAAAGTTGATAGCTAAAAGGTAGAGTGTGTCTTCGATATAAT
CCAATTTGTTTTATGTCAAAATGTAAGTATTTGTCTTCCCTAGAAATCCTCAGAATGATTTCTATAATAA
AGTTAATTTCATTTATATTTGACAAGAATATAGATGTTTTATACACATTTTCATGCAATCATACGTTTCT
TTTTTGGCCAGCAAAAGTTAATTGTTCTTAGATATAGTTGTATTACTGTTCACGGTCCAATCATTTTGTG
CATCTAGAGTTCATTCCTAATCAATTAAAAGTGCTTGCAAGAGTTTTAAACTTAAGTGTTTTGAAGTTGT
TCACAACTACATATCAAAATTAACCATTGTTGATTGTAAAAAACCATGCCAAAGCCTTTGTATTTCCTTT
ATTATACAGTTTTCTTTTTAACCTTATAGTGTGGTGTTACAAATTTTATTTCCATGTTAGATCAACATTC
TAAACCAATGGTTACTTTCACACACACTCTGTTTTACATCCTGATGATCCTTAAAAAATAATCCTTATAG
ATACCATAAATCAAAAACGTGTTAGAAAAAAATTCCACTTACAGCAGGGTGTAGATCTGTGCCCATTTAT
ACCCACAACATATATACAAAATGGTAACATTTCCCAGTTAGCCATTTAATTCTAAAGCTCAAAGTCTAGA
AATAATTTAAAAATGCAACAAGCGATTAGCTAGGAATTGTTTTTTGAATTAGGACTGGCATTTTCAATCT
GGGCAGATTTCCATTGTCAGCCTATTTCAACAATGATTTCACTGAAGTATATTCAAAAGTAGATTTCTTA
AAGGAGACTTTCTGAAAGCTGTTGCCTTTTTCAAATAGGCCCTCTCCCTTTTCTGTCTCCCTCCCCTTTG
CACAAGAGGCATCATTTCCCATTGAACCACTACAGCTGTTCCCATTTGAATCTTGCTTTCTGTGCGGTTG
TGGATGGTTGGAGGGTGGAGGGGGGATGTTGCATGTCAAGGAATAATGAGCACAGACACATCAACAGACA
ACAACAAAGCAGACTGTGACTGGCCGGTGGGAATTAAAGGCCTTCAGTCATTGGCAGCTTAAGCCAAACA
TTCCCAAATCTATGAAGCAGGGCCCATTGTTGGTCAGTTGTTATTTGCAATGAAGCACAGTTCTGATCAT
GTTTAAAGTGGAGGCACGCAGGGCAGGAGTGCTTGAGCCCAAGCAAAGGATGGAAAAAAATAAGCCTTTG
TTGGGTAAAAAAGGACTGTCTGAGACTTTCATTTGTTCTGTGCAACATATAAGTCAATACAGATAAGTCT
TCCTCTGCAAACTTCACTAAAAAGCCTGGGGGTTCTGGCAGTCTAGATTAAAATGCTTGCACATGCAGAA
ACCTCTGGGGACAAAGACACACTTCCACTGAATTATACTCTGCTTTAAAAAAATCCCCAAAAGCAAATGA
TCAGAAATGTAGAAATTAATGGAAGGATTTAAACATGACCTTCTCGTTCAATATCTACTGTTTTTTAGTT
AAGGAATTACTTGTGAACAGATAATTGAGATTCATTGCTCCGGCATGAAATATACTAATAATTTTATTCC
ACCAGAGTTGCTGCACATTTGGAGACACCTTCCTAAGTTGCAGTTTTTGTATGTGTGCATGTAGTTTTGT
TCAGTGTCAGCCTGCACTGCACAGCAGCACATTTCTGCAGGGGAGTGAGCACACATACGCACTGTTGGTA
CAATTGCCGGTGCAGACATTTCTACCTCCTGACATTTTGCAGCCTACATTCCCTGAGGGCTGTGTGCTGA
GGGAACTGTCAGAGAAGGGCTATGTGGGAGTGCATGCCACAGCTGCTGGCTGGCTTACTTCTTCCTTCTC
GCTGGCTGTAATTTCCACCACGGTCAGGCAGCCAGTTCCGGCCCACGGTTCTGTTGTGTAGACAGCAGAG
ACTTTGGAGACCCGGATGTCGCACGCCAGGTGCAAGAGGTGGGAATGGGAGAAAAGGAGTGACGTGGGAG
CGGAGGGTCTGTATGTGTGCACTTGGGCACGTATATGTGTGCTCTGAAGGTCAGGATTGCCAGGGCAAAG
TAGCACAGTCTGGTATAGTCTGAAGAAGCGGCTGCTCAGCTGCAGAAGCCCTCTGGTCCGGCAGGATGGG
AACGGCTGCCTTGCCTTCTGCCCACACCCTAGGGACATGAGCTGTCCTTCCAAACAGAGCTCCAGGCACT
CTCTTGGGGACAGCATGGCAGGCTCTGTGTGGTAGCAGTGCCTGGGAGTTGGCCTTTTACTCATTGTTGA
AATAATTTTTGTTTATTATTTATTTAACGATACATATATTTATATATTTATCAATGGGGTATCTGCAGGG
ATGTTTTGACACCATCTTCCAGGATGGAGATTATTTGTGAAGACTTCAGTAGAATCCCAGGACTAAACGT
CTAAATTTTTTCTCCAAACTTGACTGACTTGGGAAAACCAGGTGAATAGAATAAGAGCTGAATGTTTTAA
GTAATAAACGTTCAAACTGCTCTAAGTAAAAAAATGCATTTTACTGCAATGAATTTCTAGAATATTTTTC
CCCCAAAGCTATGCCTCCTAACCCTTAAATGGTGAACAACTGGTTTCTTGCTACAGCTCACTGCCATTTC
TTCTTACTATCATCACTAGGTTTCCTAAGATTCACTCATACAGTATTATTTGAAGATTCAGCTTTGTTCT
GTGAATGTCATCTTAGGATTGTGTCTATATTCTTTTGCTTATTTCTTTTTACTCTGGGCCTCTCATACTA
GTAAGATTTTAAAAAGCCTTTTCTTCTCTGTATGTTTGGCTCACCAAGGCGAAATATATATTCTTCTCTT
TTTCATTTCTCAAGAATAAACCTCATCTGCTTTTTTGTTTTTCTGTGTTTTGGCTTGGTACTGAATGACT
CAACTGCTCGGTTTTAAAGTTCAAAGTGTAAGTACTTAGGGTTAGTACTGCTTATTTCAATAATGTTGAC
GGTGACTATCTTTGGAAAGCAGTAACATGCTGTCTTAGAAATGACATTAATAATGGGCTTAAACAAATGA
ATAGGGGGGTCCCCCCACTCTCCTTTTGTATGCCTATGTGTGTCTGATTTGTTAAAAGATGGACAGGGAA
TTGATTGCAGAGTGTCGCTTCCTTCTAAAGTAGTTTTATTTTGTCTACTGTTAGTATTTAAAGATCCTGG
AGGTGGACATAAGGAATAAATGGAAGAGAAAAGTAGATATTGTATGGTGGCTACTAAAAGGAAATTCAAA
AAGTCTTAGAACCCGAGCACCTGAGCAAACTGCAGTAGTCAAAATATTTATCTCATGTTAAAGAAAGGCA
AATCTAGTGTAAGAAATGAGTACCATATAGGGTTTTGAAGTTCATATACTAGAAACACTTAAAAGATATC
ATTTCAGATATTACGTTTGGCATTGTTCTTAAGTATTTATATCTTTGAGTCAAGCTGATAATTAAAAAAA
ATCTGTTAATGGAGTGTATATTTCATAATGTATCAAAATGGTGTCTATACCTAAGGTAGCATTATTGAAG
AGAGATATGTTTATGTAGTAAGTTATTAACATAATGAGTAACAAATAATGTTTCCAGAAGAAAGGAAAAC
ACATTTTCAGAGTGCGTTTTTATCAGAGGAAGACAAAAATACACACCCCTCTCCAGTAGCTTATTTTTAC
AAAGCCGGCCCAGTGAATTAGAAAAACAAAGCACTTGGATATGATTTTTGGAAAGCCCAGGTACACTTAT
TATTCAAAATGCACTTTTACTGAGTTTGAAAAGTTTCTTTTATATTTAAAATAAGGGTTCAAATATGCAT
ATTCAATTTTTATAGTAGTTATCTATTTGCAAAGCATATATTAACTAGTAATTGGCTGTTAATTTTATAG
ACATGGTAGCCAGGGAAGTATATCAATGACCTATTAAGTATTTTGACAAGCAATTTACATATCTGATGAC
CTCGTATCTCTTTTTCAGCAAGTCAAATGCTATGTAATTGTTCCATTGTGTGTTGTATAAAATGAATCAA
CACGGTAAGAAAAAGGTTAGAGTTATTAAAATAATAAACTGACTAAAATACTCATTTGAATTTATTCAGA
ATGTTCATAATGCTTTCAAAGGACATAGCAGAGCTTTTGTGGAGTATCCGCACAACATTATTTATTATCT
ATGGACTAAATCAATTTTTTGAAGTTGCTTTAAAATTTAAAAGCACCTTTGCTTAATATAAAGCCCTTTA
ATTTTAACTGACAGATCAATTCTGAAACTTTATTTTGAAAAGAAAATGGGGAAGAATCTGTGTCTTTAGA
ATTAAAAGAAATGAAAAAAATAAACCCGACATTCTAAAAAAATAGAATAAGAAACCTGATTTTTAGTACT
AATGAAATAGCGGGTGACAAAATAGTTGTCTTTTTGATTTTGATCACAAAAAATAAACTGGTAGTGACAG
GATATGATGGAGAGATTTGACATCCTGGCAAATCACTGTCATTGATTCAATTATTCTAATTCTGAATAAA
AGCTGTATACAGTAAAA
Pfam |
Position(Independent E-value) |
Description |
|
PAX |
4..128(6e-73) |
|
PF00292, 'Paired box' domain |
Homeodomain |
212..267(2.9e-22) |
|
PF00046, Homeodomain |
HTH_32 |
53..127(0.00093) |
|
PF13565, Homeodomain-like domain |
HTH_23 |
24..60(0.00091) |
|
PF13384, Homeodomain-like domain |
HTH_Tnp_IS1 |
25..48(0.016) |
|
PF12759, InsA C-terminal domain |
HTH_28 |
26..64(0.096) |
|
PF13518, Helix-turn-helix domain |
Homeobox_KN |
234..263(0.19) |
|
PF05920, Homeobox KN domain |
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 (-29171.50) 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 593 positions in the final dataset.
SNP |
COORDINATE |
AMINO ACID CHANGE |
GENE ID |
TRANSCRIPT ID |
PROTEIN ID |
SIFT SCORE |
SIFT MEDIAN |
SIFT PREDICTION |
rs121907912 |
31822356 |
Q136* |
ENSG00000007372 |
ENST00000241001 |
ENSP00000241001 |
|
|
|
rs121907912 |
31822356 |
Q150* |
ENSG00000007372 |
ENST00000379107 |
ENSP00000368401 |
|
|
|
rs121907912 |
31822356 |
Q136* |
ENSG00000007372 |
ENST00000379111 |
ENSP00000368406 |
|
|
|
rs121907912 |
31822356 |
Q150* |
ENSG00000007372 |
ENST00000379115 |
ENSP00000368410 |
|
|
|
rs121907912 |
31822356 |
Q136* |
ENSG00000007372 |
ENST00000379123 |
ENSP00000368418 |
|
|
|
rs121907912 |
31822356 |
Q150* |
ENSG00000007372 |
ENST00000379129 |
ENSP00000368424 |
|
|
|
rs121907912 |
31822356 |
Q136* |
ENSG00000007372 |
ENST00000379132 |
ENSP00000368427 |
|
|
|
rs121907912 |
31822356 |
Q150* |
ENSG00000007372 |
ENST00000419022 |
ENSP00000404100 |
|
|
|
rs121907913 |
31824317 |
R26G |
ENSG00000007372 |
ENST00000241001 |
ENSP00000241001 |
0 |
2.3 |
DELETERIOUS |
rs121907913 |
31824317 |
R26G |
ENSG00000007372 |
ENST00000379107 |
ENSP00000368401 |
0 |
2.39 |
DELETERIOUS |
rs121907913 |
31824317 |
R26G |
ENSG00000007372 |
ENST00000379111 |
ENSP00000368406 |
0 |
2.3 |
DELETERIOUS |
rs121907913 |
31824317 |
R26G |
ENSG00000007372 |
ENST00000379115 |
ENSP00000368410 |
0 |
2.39 |
DELETERIOUS |
rs121907913 |
31824317 |
R26G |
ENSG00000007372 |
ENST00000379123 |
ENSP00000368418 |
0 |
2.3 |
DELETERIOUS |
rs121907913 |
31824317 |
R26G |
ENSG00000007372 |
ENST00000379129 |
ENSP00000368424 |
0 |
2.39 |
DELETERIOUS |
rs121907913 |
31824317 |
R26G |
ENSG00000007372 |
ENST00000379132 |
ENSP00000368427 |
0 |
2.3 |
DELETERIOUS |
rs121907913 |
31824317 |
R26G |
ENSG00000007372 |
ENST00000419022 |
ENSP00000404100 |
0 |
2.39 |
DELETERIOUS |
rs121907914 |
31823159 |
R103* |
ENSG00000007372 |
ENST00000241001 |
ENSP00000241001 |
|
|
|
rs121907914 |
31823159 |
R117* |
ENSG00000007372 |
ENST00000379107 |
ENSP00000368401 |
|
|
|
rs121907914 |
31823159 |
R103* |
ENSG00000007372 |
ENST00000379111 |
ENSP00000368406 |
|
|
|
rs121907914 |
31823159 |
R117* |
ENSG00000007372 |
ENST00000379115 |
ENSP00000368410 |
|
|
|
rs121907914 |
31823159 |
R103* |
ENSG00000007372 |
ENST00000379123 |
ENSP00000368418 |
|
|
|
rs121907914 |
31823159 |
R117* |
ENSG00000007372 |
ENST00000379129 |
ENSP00000368424 |
|
|
|
rs121907914 |
31823159 |
R103* |
ENSG00000007372 |
ENST00000379132 |
ENSP00000368427 |
|
|
|
rs121907914 |
31823159 |
R117* |
ENSG00000007372 |
ENST00000419022 |
ENSP00000404100 |
|
|
|
rs121907915 |
31812383 |
S353* |
ENSG00000007372 |
ENST00000241001 |
ENSP00000241001 |
|
|
|
rs121907915 |
31812383 |
S367* |
ENSG00000007372 |
ENST00000379107 |
ENSP00000368401 |
|
|
|
rs121907915 |
31812383 |
S353* |
ENSG00000007372 |
ENST00000379111 |
ENSP00000368406 |
|
|
|
rs121907915 |
31812383 |
S367* |
ENSG00000007372 |
ENST00000379115 |
ENSP00000368410 |
|
|
|
rs121907915 |
31812383 |
S353* |
ENSG00000007372 |
ENST00000379123 |
ENSP00000368418 |
|
|
|
rs121907915 |
31812383 |
S367* |
ENSG00000007372 |
ENST00000379129 |
ENSP00000368424 |
|
|
|
rs121907915 |
31812383 |
S353* |
ENSG00000007372 |
ENST00000379132 |
ENSP00000368427 |
|
|
|
rs121907915 |
31812383 |
S367* |
ENSG00000007372 |
ENST00000419022 |
ENSP00000404100 |
|
|
|
rs121907916 |
31816253 |
R203* |
ENSG00000007372 |
ENST00000241001 |
ENSP00000241001 |
|
|
|
rs121907916 |
31816253 |
R217* |
ENSG00000007372 |
ENST00000379107 |
ENSP00000368401 |
|
|
|
rs121907916 |
31816253 |
R203* |
ENSG00000007372 |
ENST00000379111 |
ENSP00000368406 |
|
|
|
rs121907916 |
31816253 |
R217* |
ENSG00000007372 |
ENST00000379115 |
ENSP00000368410 |
|
|
|
rs121907916 |
31816253 |
R203* |
ENSG00000007372 |
ENST00000379123 |
ENSP00000368418 |
|
|
|
rs121907916 |
31816253 |
R217* |
ENSG00000007372 |
ENST00000379129 |
ENSP00000368424 |
|
|
|
rs121907916 |
31816253 |
R203* |
ENSG00000007372 |
ENST00000379132 |
ENSP00000368427 |
|
|
|
rs121907916 |
31816253 |
R217* |
ENSG00000007372 |
ENST00000419022 |
ENSP00000404100 |
|
|
|
rs121907917 |
31815627 |
R240* |
ENSG00000007372 |
ENST00000241001 |
ENSP00000241001 |
|
|
|
rs121907917 |
31815627 |
R254* |
ENSG00000007372 |
ENST00000379107 |
ENSP00000368401 |
|
|
|
rs121907917 |
31815627 |
R240* |
ENSG00000007372 |
ENST00000379111 |
ENSP00000368406 |
|
|
|
rs121907917 |
31815627 |
R254* |
ENSG00000007372 |
ENST00000379115 |
ENSP00000368410 |
|
|
|
rs121907917 |
31815627 |
R240* |
ENSG00000007372 |
ENST00000379123 |
ENSP00000368418 |
|
|
|
rs121907917 |
31815627 |
R254* |
ENSG00000007372 |
ENST00000379129 |
ENSP00000368424 |
|
|
|
rs121907917 |
31815627 |
R240* |
ENSG00000007372 |
ENST00000379132 |
ENSP00000368427 |
|
|
|
rs121907917 |
31815627 |
R254* |
ENSG00000007372 |
ENST00000419022 |
ENSP00000404100 |
|
|
|
rs121907918 |
31822380 |
R128C |
ENSG00000007372 |
ENST00000241001 |
ENSP00000241001 |
0 |
2.32 |
DELETERIOUS |
rs121907918 |
31822380 |
R142C |
ENSG00000007372 |
ENST00000379107 |
ENSP00000368401 |
0 |
2.38 |
DELETERIOUS |
rs121907918 |
31822380 |
R128C |
ENSG00000007372 |
ENST00000379111 |
ENSP00000368406 |
0 |
2.32 |
DELETERIOUS |
rs121907918 |
31822380 |
R142C |
ENSG00000007372 |
ENST00000379115 |
ENSP00000368410 |
0 |
2.38 |
DELETERIOUS |
rs121907918 |
31822380 |
R128C |
ENSG00000007372 |
ENST00000379123 |
ENSP00000368418 |
0 |
2.32 |
DELETERIOUS |
rs121907918 |
31822380 |
R142C |
ENSG00000007372 |
ENST00000379129 |
ENSP00000368424 |
0 |
2.38 |
DELETERIOUS |
rs121907918 |
31822380 |
R128C |
ENSG00000007372 |
ENST00000379132 |
ENSP00000368427 |
0 |
2.32 |
DELETERIOUS |
rs121907918 |
31822380 |
R142C |
ENSG00000007372 |
ENST00000419022 |
ENSP00000404100 |
0 |
2.38 |
DELETERIOUS |
rs121907919 |
31822385 |
V126D |
ENSG00000007372 |
ENST00000241001 |
ENSP00000241001 |
0 |
2.32 |
DELETERIOUS |
rs121907919 |
31822385 |
V140D |
ENSG00000007372 |
ENST00000379107 |
ENSP00000368401 |
0 |
2.37 |
DELETERIOUS |
rs121907919 |
31822385 |
V126D |
ENSG00000007372 |
ENST00000379111 |
ENSP00000368406 |
0 |
2.32 |
DELETERIOUS |
rs121907919 |
31822385 |
V140D |
ENSG00000007372 |
ENST00000379115 |
ENSP00000368410 |
0 |
2.37 |
DELETERIOUS |
rs121907919 |
31822385 |
V126D |
ENSG00000007372 |
ENST00000379123 |
ENSP00000368418 |
0 |
2.32 |
DELETERIOUS |
rs121907919 |
31822385 |
V140D |
ENSG00000007372 |
ENST00000379129 |
ENSP00000368424 |
0 |
2.37 |
DELETERIOUS |
rs121907919 |
31822385 |
V126D |
ENSG00000007372 |
ENST00000379132 |
ENSP00000368427 |
0 |
2.32 |
DELETERIOUS |
rs121907919 |
31822385 |
V140D |
ENSG00000007372 |
ENST00000419022 |
ENSP00000404100 |
0 |
2.37 |
DELETERIOUS |
rs121907920 |
31823275 |
G64V |
ENSG00000007372 |
ENST00000241001 |
ENSP00000241001 |
0 |
2.3 |
DELETERIOUS |
rs121907920 |
31823275 |
G78V |
ENSG00000007372 |
ENST00000379107 |
ENSP00000368401 |
0 |
2.41 |
DELETERIOUS |
rs121907920 |
31823275 |
G64V |
ENSG00000007372 |
ENST00000379111 |
ENSP00000368406 |
0 |
2.3 |
DELETERIOUS |
rs121907920 |
31823275 |
G78V |
ENSG00000007372 |
ENST00000379115 |
ENSP00000368410 |
0 |
2.41 |
DELETERIOUS |
rs121907920 |
31823275 |
G64V |
ENSG00000007372 |
ENST00000379123 |
ENSP00000368418 |
0 |
2.3 |
DELETERIOUS |
rs121907920 |
31823275 |
G78V |
ENSG00000007372 |
ENST00000379129 |
ENSP00000368424 |
0 |
2.41 |
DELETERIOUS |
rs121907920 |
31823275 |
G64V |
ENSG00000007372 |
ENST00000379132 |
ENSP00000368427 |
0 |
2.3 |
DELETERIOUS |
rs121907920 |
31823275 |
G78V |
ENSG00000007372 |
ENST00000419022 |
ENSP00000404100 |
0 |
2.41 |
DELETERIOUS |
rs121907921 |
31823441 |
V54D |
ENSG00000007372 |
ENST00000379107 |
ENSP00000368401 |
0.004 |
4.32 |
DELETERIOUS (WARNING LOW CONFIDENCE) |
rs121907921 |
31823441 |
V54D |
ENSG00000007372 |
ENST00000379115 |
ENSP00000368410 |
0.004 |
4.32 |
DELETERIOUS (WARNING LOW CONFIDENCE) |
rs121907921 |
31823441 |
V54D |
ENSG00000007372 |
ENST00000379129 |
ENSP00000368424 |
0.004 |
4.32 |
DELETERIOUS (WARNING LOW CONFIDENCE) |
rs121907921 |
31823441 |
V54D |
ENSG00000007372 |
ENST00000419022 |
ENSP00000404100 |
0.004 |
4.32 |
DELETERIOUS (WARNING LOW CONFIDENCE) |
rs121907922 |
31811483 |
*423L |
ENSG00000007372 |
ENST00000241001 |
ENSP00000241001 |
|
|
|
rs121907922 |
31811483 |
*437L |
ENSG00000007372 |
ENST00000379107 |
ENSP00000368401 |
|
|
|
rs121907922 |
31811483 |
*423L |
ENSG00000007372 |
ENST00000379111 |
ENSP00000368406 |
|
|
|
rs121907922 |
31811483 |
*437L |
ENSG00000007372 |
ENST00000379115 |
ENSP00000368410 |
|
|
|
rs121907922 |
31811483 |
*423L |
ENSG00000007372 |
ENST00000379123 |
ENSP00000368418 |
|
|
|
rs121907922 |
31811483 |
*437L |
ENSG00000007372 |
ENST00000379129 |
ENSP00000368424 |
|
|
|
rs121907922 |
31811483 |
*423L |
ENSG00000007372 |
ENST00000379132 |
ENSP00000368427 |
|
|
|
rs121907922 |
31811483 |
*437L |
ENSG00000007372 |
ENST00000419022 |
ENSP00000404100 |
|
|
|
rs121907923 |
31823264 |
P68S |
ENSG00000007372 |
ENST00000241001 |
ENSP00000241001 |
0 |
2.33 |
DELETERIOUS |
rs121907923 |
31823264 |
P82S |
ENSG00000007372 |
ENST00000379107 |
ENSP00000368401 |
0 |
2.36 |
DELETERIOUS |
rs121907923 |
31823264 |
P68S |
ENSG00000007372 |
ENST00000379111 |
ENSP00000368406 |
0 |
2.33 |
DELETERIOUS |
rs121907923 |
31823264 |
P82S |
ENSG00000007372 |
ENST00000379115 |
ENSP00000368410 |
0 |
2.36 |
DELETERIOUS |
rs121907923 |
31823264 |
P68S |
ENSG00000007372 |
ENST00000379123 |
ENSP00000368418 |
0 |
2.33 |
DELETERIOUS |
rs121907923 |
31823264 |
P82S |
ENSG00000007372 |
ENST00000379129 |
ENSP00000368424 |
0 |
2.36 |
DELETERIOUS |
rs121907923 |
31823264 |
P68S |
ENSG00000007372 |
ENST00000379132 |
ENSP00000368427 |
0 |
2.33 |
DELETERIOUS |
rs121907923 |
31823264 |
P82S |
ENSG00000007372 |
ENST00000419022 |
ENSP00000404100 |
0 |
2.36 |
DELETERIOUS |
rs121907924 |
31816247 |
Q205* |
ENSG00000007372 |
ENST00000241001 |
ENSP00000241001 |
|
|
|
rs121907924 |
31816247 |
Q219* |
ENSG00000007372 |
ENST00000379107 |
ENSP00000368401 |
|
|
|
rs121907924 |
31816247 |
Q205* |
ENSG00000007372 |
ENST00000379111 |
ENSP00000368406 |
|
|
|
rs121907924 |
31816247 |
Q219* |
ENSG00000007372 |
ENST00000379115 |
ENSP00000368410 |
|
|
|
rs121907924 |
31816247 |
Q205* |
ENSG00000007372 |
ENST00000379123 |
ENSP00000368418 |
|
|
|
rs121907924 |
31816247 |
Q219* |
ENSG00000007372 |
ENST00000379129 |
ENSP00000368424 |
|
|
|
rs121907924 |
31816247 |
Q205* |
ENSG00000007372 |
ENST00000379132 |
ENSP00000368427 |
|
|
|
rs121907924 |
31816247 |
Q219* |
ENSG00000007372 |
ENST00000419022 |
ENSP00000404100 |
|
|
|
rs121907925 |
31815343 |
F258S |
ENSG00000007372 |
ENST00000241001 |
ENSP00000241001 |
0 |
2.35 |
DELETERIOUS |
rs121907925 |
31815343 |
F272S |
ENSG00000007372 |
ENST00000379107 |
ENSP00000368401 |
0 |
2.41 |
DELETERIOUS |
rs121907925 |
31815343 |
F258S |
ENSG00000007372 |
ENST00000379111 |
ENSP00000368406 |
0 |
2.35 |
DELETERIOUS |
rs121907925 |
31815343 |
F272S |
ENSG00000007372 |
ENST00000379115 |
ENSP00000368410 |
0 |
2.41 |
DELETERIOUS |
rs121907925 |
31815343 |
F258S |
ENSG00000007372 |
ENST00000379123 |
ENSP00000368418 |
0 |
2.35 |
DELETERIOUS |
rs121907925 |
31815343 |
F272S |
ENSG00000007372 |
ENST00000379129 |
ENSP00000368424 |
0 |
2.41 |
DELETERIOUS |
rs121907925 |
31815343 |
F258S |
ENSG00000007372 |
ENST00000379132 |
ENSP00000368427 |
0 |
2.35 |
DELETERIOUS |
rs121907925 |
31815343 |
F272S |
ENSG00000007372 |
ENST00000419022 |
ENSP00000404100 |
0 |
2.41 |
DELETERIOUS |
rs121907926 |
31812270 |
T391A |
ENSG00000007372 |
ENST00000241001 |
ENSP00000241001 |
0.517 |
2.52 |
TOLERATED |
rs121907926 |
31812270 |
T391A |
ENSG00000007372 |
ENST00000379111 |
ENSP00000368406 |
0.517 |
2.52 |
TOLERATED |
rs121907926 |
31812270 |
T391A |
ENSG00000007372 |
ENST00000379123 |
ENSP00000368418 |
0.517 |
2.52 |
TOLERATED |
rs121907926 |
31812270 |
T391A |
ENSG00000007372 |
ENST00000379132 |
ENSP00000368427 |
0.517 |
2.52 |
TOLERATED |
rs121907926 |
31812270 |
T405A |
ENSG00000007372 |
ENST00000379107 |
ENSP00000368401 |
0.621 |
2.6 |
TOLERATED |
rs121907926 |
31812270 |
T405A |
ENSG00000007372 |
ENST00000379115 |
ENSP00000368410 |
0.621 |
2.6 |
TOLERATED |
rs121907926 |
31812270 |
T405A |
ENSG00000007372 |
ENST00000379129 |
ENSP00000368424 |
0.621 |
2.6 |
TOLERATED |
rs121907926 |
31812270 |
T405A |
ENSG00000007372 |
ENST00000419022 |
ENSP00000404100 |
0.621 |
2.6 |
TOLERATED |
rs121907927 |
31815620 |
R242T |
ENSG00000007372 |
ENST00000241001 |
ENSP00000241001 |
0.004 |
2.36 |
DELETERIOUS |
rs121907927 |
31815620 |
R256T |
ENSG00000007372 |
ENST00000379107 |
ENSP00000368401 |
0.004 |
2.39 |
DELETERIOUS |
rs121907927 |
31815620 |
R242T |
ENSG00000007372 |
ENST00000379111 |
ENSP00000368406 |
0.004 |
2.36 |
DELETERIOUS |
rs121907927 |
31815620 |
R256T |
ENSG00000007372 |
ENST00000379115 |
ENSP00000368410 |
0.004 |
2.39 |
DELETERIOUS |
rs121907927 |
31815620 |
R242T |
ENSG00000007372 |
ENST00000379123 |
ENSP00000368418 |
0.004 |
2.36 |
DELETERIOUS |
rs121907927 |
31815620 |
R256T |
ENSG00000007372 |
ENST00000379129 |
ENSP00000368424 |
0.004 |
2.39 |
DELETERIOUS |
rs121907927 |
31815620 |
R242T |
ENSG00000007372 |
ENST00000379132 |
ENSP00000368427 |
0.004 |
2.36 |
DELETERIOUS |
rs121907927 |
31815620 |
R256T |
ENSG00000007372 |
ENST00000419022 |
ENSP00000404100 |
0.004 |
2.39 |
DELETERIOUS |
rs121907928 |
31823109 |
S119R |
ENSG00000007372 |
ENST00000241001 |
ENSP00000241001 |
0.001 |
2.31 |
DELETERIOUS |
rs121907928 |
31823109 |
S133R |
ENSG00000007372 |
ENST00000379107 |
ENSP00000368401 |
0.001 |
2.35 |
DELETERIOUS |
rs121907928 |
31823109 |
S119R |
ENSG00000007372 |
ENST00000379111 |
ENSP00000368406 |
0.001 |
2.31 |
DELETERIOUS |
rs121907928 |
31823109 |
S133R |
ENSG00000007372 |
ENST00000379115 |
ENSP00000368410 |
0.001 |
2.35 |
DELETERIOUS |
rs121907928 |
31823109 |
S119R |
ENSG00000007372 |
ENST00000379123 |
ENSP00000368418 |
0.001 |
2.31 |
DELETERIOUS |
rs121907928 |
31823109 |
S133R |
ENSG00000007372 |
ENST00000379129 |
ENSP00000368424 |
0.001 |
2.35 |
DELETERIOUS |
rs121907928 |
31823109 |
S119R |
ENSG00000007372 |
ENST00000379132 |
ENSP00000368427 |
0.001 |
2.31 |
DELETERIOUS |
rs121907928 |
31823109 |
S133R |
ENSG00000007372 |
ENST00000419022 |
ENSP00000404100 |
0.001 |
2.35 |
DELETERIOUS |
rs121907929 |
31815345 |
W257* |
ENSG00000007372 |
ENST00000241001 |
ENSP00000241001 |
|
|
|
rs121907929 |
31815345 |
W271* |
ENSG00000007372 |
ENST00000379107 |
ENSP00000368401 |
|
|
|
rs121907929 |
31815345 |
W257* |
ENSG00000007372 |
ENST00000379111 |
ENSP00000368406 |
|
|
|
rs121907929 |
31815345 |
W271* |
ENSG00000007372 |
ENST00000379115 |
ENSP00000368410 |
|
|
|
rs121907929 |
31815345 |
W257* |
ENSG00000007372 |
ENST00000379123 |
ENSP00000368418 |
|
|
|
rs121907929 |
31815345 |
W271* |
ENSG00000007372 |
ENST00000379129 |
ENSP00000368424 |
|
|
|
rs121907929 |
31815345 |
W257* |
ENSG00000007372 |
ENST00000379132 |
ENSP00000368427 |
|
|
|
rs121907929 |
31815345 |
W271* |
ENSG00000007372 |
ENST00000419022 |
ENSP00000404100 |
|
|
|
rs141873759 |
31824263 |
R44R |
ENSG00000007372 |
ENST00000241001 |
ENSP00000241001 |
1 |
2.31 |
TOLERATED |
rs141873759 |
31824263 |
R44R |
ENSG00000007372 |
ENST00000379107 |
ENSP00000368401 |
1 |
2.38 |
TOLERATED |
rs141873759 |
31824263 |
R44R |
ENSG00000007372 |
ENST00000379111 |
ENSP00000368406 |
1 |
2.31 |
TOLERATED |
rs141873759 |
31824263 |
R44R |
ENSG00000007372 |
ENST00000379115 |
ENSP00000368410 |
1 |
2.38 |
TOLERATED |
rs141873759 |
31824263 |
R44R |
ENSG00000007372 |
ENST00000379123 |
ENSP00000368418 |
1 |
2.31 |
TOLERATED |
rs141873759 |
31824263 |
R44R |
ENSG00000007372 |
ENST00000379129 |
ENSP00000368424 |
1 |
2.38 |
TOLERATED |
rs141873759 |
31824263 |
R44R |
ENSG00000007372 |
ENST00000379132 |
ENSP00000368427 |
1 |
2.31 |
TOLERATED |
rs141873759 |
31824263 |
R44R |
ENSG00000007372 |
ENST00000419022 |
ENSP00000404100 |
1 |
2.38 |
TOLERATED |
rs151086737 |
31822262 |
S181L |
ENSG00000007372 |
ENST00000379107 |
ENSP00000368401 |
0.227 |
2.43 |
TOLERATED |
rs151086737 |
31822262 |
S181L |
ENSG00000007372 |
ENST00000379115 |
ENSP00000368410 |
0.227 |
2.43 |
TOLERATED |
rs151086737 |
31822262 |
S181L |
ENSG00000007372 |
ENST00000379129 |
ENSP00000368424 |
0.227 |
2.43 |
TOLERATED |
rs151086737 |
31822262 |
S181L |
ENSG00000007372 |
ENST00000419022 |
ENSP00000404100 |
0.227 |
2.43 |
TOLERATED |
rs151086737 |
31822262 |
S167L |
ENSG00000007372 |
ENST00000241001 |
ENSP00000241001 |
0.262 |
2.36 |
TOLERATED |
rs151086737 |
31822262 |
S167L |
ENSG00000007372 |
ENST00000379111 |
ENSP00000368406 |
0.262 |
2.36 |
TOLERATED |
rs151086737 |
31822262 |
S167L |
ENSG00000007372 |
ENST00000379123 |
ENSP00000368418 |
0.262 |
2.36 |
TOLERATED |
rs151086737 |
31822262 |
S167L |
ENSG00000007372 |
ENST00000379132 |
ENSP00000368427 |
0.262 |
2.36 |
TOLERATED |
Evolutionary analysis of coding SNPs
SNP |
substitution |
probability of deleterious effect |
Prediction Score |
rs121907913 |
R26G |
probably damaging |
0.85 |
rs121907913 |
R26G |
probably damaging |
0.85 |
rs121907913 |
R26G |
probably damaging |
0.85 |
rs121907913 |
R26G |
probably damaging |
0.85 |
rs121907913 |
R26G |
probably damaging |
0.85 |
rs121907913 |
R26G |
probably damaging |
0.85 |
rs121907913 |
R26G |
probably damaging |
0.85 |
rs121907913 |
R26G |
probably damaging |
0.85 |
rs121907918 |
R128C |
probably damaging |
0.85 |
rs121907918 |
R128C |
probably damaging |
0.85 |
rs121907918 |
R128C |
probably damaging |
0.85 |
rs121907918 |
R128C |
probably damaging |
0.85 |
rs121907919 |
V126D |
probably damaging |
0.85 |
rs121907919 |
V126D |
probably damaging |
0.85 |
rs121907919 |
V126D |
probably damaging |
0.85 |
rs121907919 |
V126D |
probably damaging |
0.85 |
rs121907920 |
G64V |
probably damaging |
0.85 |
rs121907920 |
G64V |
probably damaging |
0.85 |
rs121907920 |
G64V |
probably damaging |
0.85 |
rs121907920 |
G64V |
probably damaging |
0.85 |
rs121907923 |
P68S |
probably damaging |
0.85 |
rs121907923 |
P68S |
probably damaging |
0.85 |
rs121907923 |
P68S |
probably damaging |
0.85 |
rs121907923 |
P68S |
probably damaging |
0.85 |
rs121907925 |
F258S |
probably damaging |
0.85 |
rs121907925 |
F258S |
probably damaging |
0.85 |
rs121907925 |
F258S |
probably damaging |
0.85 |
rs121907925 |
F258S |
probably damaging |
0.85 |
rs121907926 |
T391A |
probably damaging |
0.74 |
rs121907926 |
T391A |
probably damaging |
0.74 |
rs121907926 |
T391A |
probably damaging |
0.74 |
rs121907926 |
T391A |
probably damaging |
0.74 |
rs121907927 |
R242T |
probably damaging |
0.74 |
rs121907927 |
R242T |
probably damaging |
0.74 |
rs121907927 |
R242T |
probably damaging |
0.74 |
rs121907927 |
R242T |
probably damaging |
0.74 |
rs121907928 |
S119R |
probably damaging |
0.85 |
rs121907928 |
S119R |
probably damaging |
0.85 |
rs121907928 |
S119R |
probably damaging |
0.85 |
rs121907928 |
S119R |
probably damaging |
0.85 |
rs141873759 |
R44R |
probably damaging |
0.85 |
rs141873759 |
R44R |
probably damaging |
0.85 |
rs141873759 |
R44R |
probably damaging |
0.85 |
rs141873759 |
R44R |
probably damaging |
0.85 |
rs141873759 |
R44R |
probably damaging |
0.85 |
rs141873759 |
R44R |
probably damaging |
0.85 |
rs141873759 |
R44R |
probably damaging |
0.85 |
rs151086737 |
R44R |
probably damaging |
0.85 |
rs151086737 |
S167L |
probably damaging |
0.74 |
rs151086737 |
S167L |
probably damaging |
0.74 |
rs151086737 |
S167L |
probably damaging |
0.74 |
rs151086737 |
S167L |
probably damaging |
0.74 |
Provean
SNP |
AMINO ACID CHANGE |
Probability |
Prediction |
Score
|
rs121907913 |
R26G |
Deleterious |
Damaging |
-5.69 |
rs121907913 |
R26G |
Deleterious |
Damaging |
-5.86 |
rs121907913 |
R26G |
Deleterious |
Damaging |
-5.69 |
rs121907913 |
R26G |
Deleterious |
Damaging |
-5.86 |
rs121907913 |
R26G |
Deleterious |
Damaging |
-5.69 |
rs121907913 |
R26G |
Deleterious |
Damaging |
-5.86 |
rs121907913 |
R26G |
Deleterious |
Damaging |
-5.69 |
rs121907913 |
R26G |
Deleterious |
Damaging |
-5.86 |
rs121907918 |
R128C |
Deleterious |
Damaging |
-6.42 |
rs121907918 |
R142C |
Deleterious |
Damaging |
-6.48 |
rs121907918 |
R128C |
Deleterious |
Damaging |
-6.42 |
rs121907918 |
R142C |
Deleterious |
Damaging |
-6.48 |
rs121907918 |
R128C |
Deleterious |
Damaging |
-6.42 |
rs121907918 |
R142C |
Deleterious |
Damaging |
-6.48 |
rs121907918 |
R128C |
Deleterious |
Damaging |
-6.42 |
rs121907918 |
R142C |
Deleterious |
Damaging |
-6.48 |
rs121907919 |
V126D |
Deleterious |
Damaging |
-5.62 |
rs121907919 |
V140D |
Deleterious |
Damaging |
-5.8 |
rs121907919 |
V126D |
Deleterious |
Damaging |
-5.62 |
rs121907919 |
V140D |
Deleterious |
Damaging |
-5.8 |
rs121907919 |
V126D |
Deleterious |
Damaging |
-5.62 |
rs121907919 |
V140D |
Deleterious |
Damaging |
-5.8 |
rs121907919 |
V126D |
Deleterious |
Damaging |
-5.62 |
rs121907919 |
V140D |
Deleterious |
Damaging |
-5.8 |
rs121907920 |
G64V |
Deleterious |
Damaging |
-7.19 |
rs121907920 |
G78V |
Deleterious |
Damaging |
-7.35 |
rs121907920 |
G64V |
Deleterious |
Damaging |
-7.19 |
rs121907920 |
G78V |
Deleterious |
Damaging |
-7.35 |
rs121907920 |
G64V |
Deleterious |
Damaging |
-7.19 |
rs121907920 |
G78V |
Deleterious |
Damaging |
-7.35 |
rs121907920 |
G64V |
Deleterious |
Damaging |
-7.19 |
rs121907920 |
G78V |
Deleterious |
Damaging |
-7.35 |
rs121907921 |
V54D |
Neutral |
Damaging |
-0.96 |
rs121907921 |
V54D |
Neutral |
Damaging |
-0.96 |
rs121907921 |
V54D |
Neutral |
Damaging |
-0.96 |
rs121907921 |
V54D |
Neutral |
Damaging |
-0.96 |
SNAP 2
Wildetype Amino Acid |
Position |
Variant Amino Acid |
Predicted Effect |
Score |
Expected Accurancy |
R |
26 |
G |
Effect |
77 |
80% |
R |
26 |
G |
Neutral |
65 |
56% |
R |
26 |
G |
Effect |
35 |
35% |
R |
26 |
G |
Neutral |
87 |
96% |
R |
26 |
G |
Effect |
-40 |
75% |
R |
26 |
G |
Effect |
64 |
26% |
R |
26 |
G |
Neutral |
90 |
34% |
R |
26 |
G |
Effect |
39 |
85% |
R |
128 |
C |
Effect |
73 |
26% |
R |
128 |
C |
Neutral |
96 |
34% |
R |
128 |
C |
Neutral |
35 |
85% |
R |
128 |
C |
Effect |
15 |
75% |
V |
126 |
D |
Neutral |
-29 |
95% |
V |
126 |
D |
Neutral |
57 |
65% |
V |
126 |
D |
Neutral |
56 |
96% |
V |
126 |
D |
Effect |
66 |
36% |
G |
64 |
V |
Effect |
33 |
85% |
G |
64 |
V |
Effect |
26 |
45% |
G |
64 |
V |
Neutral |
85 |
25% |
G |
64 |
S |
Neutral |
56 |
75% |
P |
68 |
S |
Effect |
65 |
96% |
P |
68 |
S |
Effect |
45 |
53% |
P |
68 |
S |
Effect |
26 |
24% |
F |
258 |
S |
Neutral |
26 |
16% |
F |
258 |
S |
Neutral |
-52 |
75% |
F |
258 |
S |
Effect |
96 |
69% |
F |
258 |
S |
Effect |
79 |
96% |
T |
391 |
A |
Effect |
96 |
34% |
T |
391 |
A |
Effect |
56 |
82% |
T |
391 |
A |
Neutral |
25 |
80% |
T |
391 |
A |
Neutral |
36 |
90% |
R |
242 |
T |
Neutral |
24 |
80% |
R |
242 |
T |
Effect |
75 |
56% |
Polyphen 2
Rs_Id |
Mutation Probability |
Score |
rs121907913 |
Possibly damaging |
0.98 |
rs121907913 |
Possibly damaging |
1.00 |
rs121907913 |
Possibly damaging |
1.00 |
rs121907913 |
Possibly damaging |
0.98 |
rs121907913 |
Possibly damaging |
1.00 |
rs121907913 |
Possibly damaging |
0.98 |
rs121907913 |
Possibly damaging |
0.98 |
rs121907913 |
Possibly damaging |
0.98 |
rs121907918 |
Possibly damaging |
1.00 |
rs121907918 |
Possibly damaging |
0.98 |
rs121907918 |
Possibly damaging |
1.00 |
rs121907918 |
Possibly damaging |
0.98 |
rs121907919 |
Possibly damaging |
0.98 |
rs121907919 |
Possibly damaging |
1.00 |
rs121907919 |
Possibly damaging |
1.00 |
rs121907919 |
Possibly damaging |
0.98 |
rs121907920 |
Possibly damaging |
1.00 |
rs121907920 |
Possibly damaging |
1.00 |
rs121907920 |
Probably damaging |
0.98 |
rs121907920 |
Possibly damaging |
0.98 |
rs121907923 |
Possibly damaging |
1.00 |
rs121907923 |
Possibly damaging |
0.98 |
rs121907923 |
Possibly damaging |
1.00 |
rs121907923 |
Possibly damaging |
1.00 |
rs121907925 |
Possibly damaging |
0.98 |
rs121907925 |
Possibly damaging |
1.00 |
rs121907925 |
Possibly damaging |
1.00 |
rs121907925 |
Possibly damaging |
1.00 |
rs121907926 |
Possibly damaging |
0.98 |
rs121907926 |
Possibly damaging |
1.00 |
rs121907926 |
Possibly damaging |
0.98 |
rs121907926 |
Possibly damaging |
1.00 |
rs121907927 |
Possibly damaging |
1.00 |
rs121907927 |
Possibly damaging |
0.98 |
rs121907927 |
Possibly damaging |
0.98 |
rs121907927 |
Possibly damaging |
1.00 |
rs121907928 |
Possibly damaging |
0.98 |
rs121907928 |
Possibly damaging |
1.00 |
Hope Prediction
Rs_Ids |
Mutation |
Mapping Issues |
AA Variant |
Function Impact |
Score |
rs121907913 |
PAX6_R26G |
Uniprot Residue:H |
R26G |
High |
10.2 |
rs121907918 |
PAX6_R128C |
|
R128C |
Medium |
4.83 |
rs121907919 |
PAX6_V126D |
|
V126D |
Medium |
4.56 |
rs121907920 |
PAX6_G64V |
|
G64V |
High |
5.94 |
rs121907923 |
PAX6_P68S |
Uniprot Residue:M |
P68S |
High |
10.1 |
rs121907925 |
PAX6_F258S |
|
F258S |
High |
6.52 |
rs121907926 |
PAX6_T391A |
|
T391A |
Medium |
4.55 |
rs121907927 |
PAX6_R242T |
|
R242T |
Medium |
4.1 |
rs121907928 |
PAX6_S119R |
|
S119R |
Low |
0.82 |
rs141873759 |
PAX6_R44R |
|
R44R |
Medium |
5.23 |
Rank |
C-Score |
Cluster Size |
PDB Hit |
Lig Name |
Consensus Building Residues |
1 |
0.17 |
6 |
9,10,15,18,19,20,21,26,48,49,50,52,59,68,69,70,71,72,73,74,98,99,124,128 |
||
2 |
0.09 |
3 |
17,18,38,39,40,44,50,54,71,72,73,74,76,77,78,79,119,121,122,125 |
||
3 |
0.05 |
2 |
9,10,15,18,19,20,21,26,48,49,50,51,52,55,68,69,70 |
||
4 |
0.02 |
1 |
219,222,223 |
||
5 |
0.02 |
1 |
N/A |
N/A |
75,76,84,125,126,129,130 |
6 |
0.02 |
1 |
N/A |
N/A |
86,90,105,106,109,173,206,210,211,212,224,242 |
7 |
0.02 |
1 |
84,87,88,91,98,99 |
||
8 |
0.02 |
1 |
N/A |
N/A |
3,21,26,52,56,59,62,63,65,66,67,68,69,70,71,72 |
9 |
0.02 |
1 |
209,225,241 |
||
10 |
0.02 |
1 |
29,30,56,57,60,67 |
Number of amino acids
|
422
|
Molecular weight
|
46683.37
|
Theoretical pI
|
9.45
|
Amino acid composition
|
Ala (A) 19 4.5%
Arg (R) 33 7.8%
Asn (N) 21 5.0%
Asp (D) 14 3.3%
Cys (C) 6 1.4%
Gln (Q) 30 7.1%
Glu (E) 21 5.0%
Gly (G) 32 7.6%
His (H) 6 1.4%
Ile (I) 19 4.5%
Leu (L) 25 5.9%
Lys (K) 13 3.1%
Met (M) 14 3.3%
Phe (F) 9 2.1%
Pro (P) 37 8.8%
Ser (S) 51 12.1%
Thr (T) 31 7.3%
Trp (W) 6 1.4%
Tyr (Y) 12 2.8%
Val (V) 23 5.5%
Pyl (O) 0 0.0%
Sec (U) 0 0.0%
|
Total number of negatively charged residues (Asp + Glu)
|
35
|
Total number of positively charged residues (Arg + Lys)
|
46
|
Formula
|
C2012H3197N603O638S20
|
Total number of atoms(12269)
|
6470
|
Instability index(II)
|
53.42
|
Stability
|
unstable
|
Aliphatic index(AI)
|
60.97
|
GRAVY
|
-0.703
|
Alpha helix (Hh) : 132 is 31.28% 310 helix (Gg) : 0 is 0.00% Pi helix (Ii) : 0 is 0.00% Beta bridge (Bb) : 0 is 0.00% Extended strand (Ee) : 30 is 7.11% Beta turn (Tt) : 23 is 5.45% Bend region (Ss) : 0 is 0.00% Random coil (Cc) : 237 is 56.16% Ambiguous states (?) : 0 is 0.00% Other states : 0 is 0.00% |
Secondary Structure Prediction
Amino Acid Types
Name of enzyme |
No. of cleavages |
Arg-C proteinase |
33 |
Asp-N endopeptidase |
14 |
Asp-N endopeptidase + N-terminal Glu |
35 |
BNPS-Skatole |
6 |
CNBr |
14 |
Chymotrypsin-high specificity (C-term to [FYW], not before P) |
24 |
Chymotrypsin-low specificity (C-term to [FYWML], not before P) |
60 |
Clostripain |
33 |
Formic acid |
14 |
Glutamyl endopeptidase |
21 |
Iodosobenzoic acid |
5 |
Hydroxylamine |
6 |
Iodosobenzoic acid |
8 |
LysC |
13 |
LysN |
13 |
NTCB (2-nitro-5-thiocyanobenzoic acid) |
6 |
Pepsin (pH1.3) |
44 |
Pepsin (pH>2) |
66 |
Proline-endopeptidase |
5 |
Proteinase K |
165 |
Staphylococcal peptidase I |
20 |
Thermolysin |
85 |
Trypsin |
41 |
Rank |
Start position |
Sequence |
Score |
Prediction |
1 |
99 |
AWEIRDRLLSEGVCTN |
0.93 |
Epitope |
1 |
296 |
YQPIPQPTTPVSSFTS |
0.93 |
Epitope |
1 |
158 |
TRPGWYPGTSVPGQPT |
0.93 |
Epitope |
2 |
13 |
GVFVNGRPLPDSTRQK |
0.91 |
Epitope |
3 |
368 |
SYDTYTPPHMQTHMNS |
0.90 |
Epitope |
4 |
59 |
RYYETGSIRPRAIGGS |
0.89 |
Epitope |
5 |
6 |
SGVNQLGGVFVNGRPL |
0.88 |
Epitope |
No of Nodes |
11 |
No of Edges |
15 |
Avg node degree |
2.73 |
avg. local clustering coefficient |
0.859 |
expected number of e, dges |
10 |
p-value |
0.104 |
Protein – Protein Interaction network |
|
RNA Base Pairing Probability Plot