Disease Name: Achondroplasia
>NP_000133.1 fibroblast growth factor receptor 3 isoform 1 precursor [Homo sapiens]
MGAPACALALCVAVAIVAGASSESLGTEQRVVGRAAEVPGPEPGQQEQLVFGSGDAVELSCPPPGGGPMG
PTVWVKDGTGLVPSERVLVGPQRLQVLNASHEDSGAYSCRQRLTQRVLCHFSVRVTDAPSSGDDEDGEDE
AEDTGVDTGAPYWTRPERMDKKLLAVPAANTVRFRCPAAGNPTPSISWLKNGREFRGEHRIGGIKLRHQQ
WSLVMESVVPSDRGNYTCVVENKFGSIRQTYTLDVLERSPHRPILQAGLPANQTAVLGSDVEFHCKVYSD
AQPHIQWLKHVEVNGSKVGPDGTPYVTVLKTAGANTTDKELEVLSLHNVTFEDAGEYTCLAGNSIGFSHH
SAWLVVLPAEEELVEADEAGSVYAGILSYGVGFFLFILVVAAVTLCRLRSPPKKGLGSPTVHKISRFPLK
RQVSLESNASMSSNTPLVRIARLSSGEGPTLANVSELELPADPKWELSRARLTLGKPLGEGCFGQVVMAE
AIGIDKDRAAKPVTVAVKMLKDDATDKDLSDLVSEMEMMKMIGKHKNIINLLGACTQGGPLYVLVEYAAK
GNLREFLRARRPPGLDYSFDTCKPPEEQLTFKDLVSCAYQVARGMEYLASQKCIHRDLAARNVLVTEDNV
MKIADFGLARDVHNLDYYKKTTNGRLPVKWMAPEALFDRVYTHQSDVWSFGVLLWEIFTLGGSPYPGIPV
EELFKLLKEGHRMDKPANCTHDLYMIMRECWHAAPSQRPTFKQLVEDLDRVLTVTSTDEYLDLSAPFEQY
SPGGQDTPSSSSSGDDSVFAHDLLPPAPPSSGGSRT
>NM_000142.5 Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA
AGTGCGCGGTGGCGGCGGCGTCGCGGGCAGCTGGCGCCGCGCGGTCCTGCTCTGCCGGTCGCACGGACGC
ACCGGCGGGCCGCCGGCCGGAGGGACGGGGCGGGAGCTGGGCCCGCGGACAGCGAGCCGGAGCGGGAGCC
GCGCGTAGCGAGCCGGGCTCCGGCGCTCGCCAGTCTCCCGAGCGGCGCCCGCCTCCCGCCGGTGCCCGCG
CCGGGCCGTGGGGGGCAGCATGCCCGCGCGCGCTGCCTGAGGACGCCGCGGCCCCCGCCCCCGCCATGGG
CGCCCCTGCCTGCGCCCTCGCGCTCTGCGTGGCCGTGGCCATCGTGGCCGGCGCCTCCTCGGAGTCCTTG
GGGACGGAGCAGCGCGTCGTGGGGCGAGCGGCAGAAGTCCCGGGCCCAGAGCCCGGCCAGCAGGAGCAGT
TGGTCTTCGGCAGCGGGGATGCTGTGGAGCTGAGCTGTCCCCCGCCCGGGGGTGGTCCCATGGGGCCCAC
TGTCTGGGTCAAGGATGGCACAGGGCTGGTGCCCTCGGAGCGTGTCCTGGTGGGGCCCCAGCGGCTGCAG
GTGCTGAATGCCTCCCACGAGGACTCCGGGGCCTACAGCTGCCGGCAGCGGCTCACGCAGCGCGTACTGT
GCCACTTCAGTGTGCGGGTGACAGACGCTCCATCCTCGGGAGATGACGAAGACGGGGAGGACGAGGCTGA
GGACACAGGTGTGGACACAGGGGCCCCTTACTGGACACGGCCCGAGCGGATGGACAAGAAGCTGCTGGCC
GTGCCGGCCGCCAACACCGTCCGCTTCCGCTGCCCAGCCGCTGGCAACCCCACTCCCTCCATCTCCTGGC
TGAAGAACGGCAGGGAGTTCCGCGGCGAGCACCGCATTGGAGGCATCAAGCTGCGGCATCAGCAGTGGAG
CCTGGTCATGGAAAGCGTGGTGCCCTCGGACCGCGGCAACTACACCTGCGTCGTGGAGAACAAGTTTGGC
AGCATCCGGCAGACGTACACGCTGGACGTGCTGGAGCGCTCCCCGCACCGGCCCATCCTGCAGGCGGGGC
TGCCGGCCAACCAGACGGCGGTGCTGGGCAGCGACGTGGAGTTCCACTGCAAGGTGTACAGTGACGCACA
GCCCCACATCCAGTGGCTCAAGCACGTGGAGGTGAATGGCAGCAAGGTGGGCCCGGACGGCACACCCTAC
GTTACCGTGCTCAAGACGGCGGGCGCTAACACCACCGACAAGGAGCTAGAGGTTCTCTCCTTGCACAACG
TCACCTTTGAGGACGCCGGGGAGTACACCTGCCTGGCGGGCAATTCTATTGGGTTTTCTCATCACTCTGC
GTGGCTGGTGGTGCTGCCAGCCGAGGAGGAGCTGGTGGAGGCTGACGAGGCGGGCAGTGTGTATGCAGGC
ATCCTCAGCTACGGGGTGGGCTTCTTCCTGTTCATCCTGGTGGTGGCGGCTGTGACGCTCTGCCGCCTGC
GCAGCCCCCCCAAGAAAGGCCTGGGCTCCCCCACCGTGCACAAGATCTCCCGCTTCCCGCTCAAGCGACA
GGTGTCCCTGGAGTCCAACGCGTCCATGAGCTCCAACACACCACTGGTGCGCATCGCAAGGCTGTCCTCA
GGGGAGGGCCCCACGCTGGCCAATGTCTCCGAGCTCGAGCTGCCTGCCGACCCCAAATGGGAGCTGTCTC
GGGCCCGGCTGACCCTGGGCAAGCCCCTTGGGGAGGGCTGCTTCGGCCAGGTGGTCATGGCGGAGGCCAT
CGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCACCGTAGCCGTGAAGATGCTGAAAGACGATGCCACT
GACAAGGACCTGTCGGACCTGGTGTCTGAGATGGAGATGATGAAGATGATCGGGAAACACAAAAACATCA
TCAACCTGCTGGGCGCCTGCACGCAGGGCGGGCCCCTGTACGTGCTGGTGGAGTACGCGGCCAAGGGTAA
CCTGCGGGAGTTTCTGCGGGCGCGGCGGCCCCCGGGCCTGGACTACTCCTTCGACACCTGCAAGCCGCCC
GAGGAGCAGCTCACCTTCAAGGACCTGGTGTCCTGTGCCTACCAGGTGGCCCGGGGCATGGAGTACTTGG
CCTCCCAGAAGTGCATCCACAGGGACCTGGCTGCCCGCAATGTGCTGGTGACCGAGGACAACGTGATGAA
GATCGCAGACTTCGGGCTGGCCCGGGACGTGCACAACCTCGACTACTACAAGAAGACGACCAACGGCCGG
CTGCCCGTGAAGTGGATGGCGCCTGAGGCCTTGTTTGACCGAGTCTACACTCACCAGAGTGACGTCTGGT
CCTTTGGGGTCCTGCTCTGGGAGATCTTCACGCTGGGGGGCTCCCCGTACCCCGGCATCCCTGTGGAGGA
GCTCTTCAAGCTGCTGAAGGAGGGCCACCGCATGGACAAGCCCGCCAACTGCACACACGACCTGTACATG
ATCATGCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACCTTCAAGCAGCTGGTGGAGGACCTGG
ACCGTGTCCTTACCGTGACGTCCACCGACGAGTACCTGGACCTGTCGGCGCCTTTCGAGCAGTACTCCCC
GGGTGGCCAGGACACCCCCAGCTCCAGCTCCTCAGGGGACGACTCCGTGTTTGCCCACGACCTGCTGCCC
CCGGCCCCACCCAGCAGTGGGGGCTCGCGGACGTGAAGGGCCACTGGTCCCCAACAATGTGAGGGGTCCC
TAGCAGCCCACCCTGCTGCTGGTGCACAGCCACTCCCCGGCATGAGACTCAGTGCAGATGGAGAGACAGC
TACACAGAGCTTTGGTCTGTGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTGTGCACATCCGCGTGTGCCT
GTGTGCGTGCGCATCTTGCCTCCAGGTGCAGAGGTACCCTGGGTGTCCCCGCTGCTGTGCAACGGTCTCC
TGACTGGTGCTGCAGCACCGAGGGGCCTTTGTTCTGGGGGGACCCAGTGCAGAATGTAAGTGGGCCCACC
CGGTGGGACCCCCGTGGGGCAGGGAGCTGGGCCCGACATGGCTCCGGCCTCTGCCTTTGCACCACGGGAC
ATCACAGGGTGGGCCTCGGCCCCTCCCACACCCAAAGCTGAGCCTGCAGGGAAGCCCCACATGTCCAGCA
CCTTGTGCCTGGGGTGTTAGTGGCACCGCCTCCCCACCTCCAGGCTTTCCCACTTCCCACCCTGCCCCTC
AGAGACTGAAATTACGGGTACCTGAAGATGGGAGCCTTTACCTTTTATGCAAAAGGTTTATTCCGGAAAC
TAGTGTACATTTCTATAAATAGATGCTGTGTATATGGTATATATACATATATATATATAACATATATGGA
AGAGGAAAAGGCTGGTACAACGGAGGCCTGCGACCCTGGGGGCACAGGAGGCAGGCATGGCCCTGGGCGG
GGCGTGGGGGGGCGTGGAGGGAGGCCCCAGGGGGTCTCACCCATGCAAGCAGAGGACCAGGGCCTTTTCT
GGCACCGCAGTTTTGTTTTAAAACTGGACCTGTATATTTGTAAAGCTATTTATGGGCCCCTGGCACTCTT
GTTCCCACACCCCAACACTTCCAGCATTTAGCTGGCCACATGGCGGAGAGTTTTAATTTTTAACTTATTG
ACAACCGAGAAGGTTTATCCCGCCGATAGAGGGACGGCCAAGAATGTACGTCCAGCCTGCCCCGGAGCTG
GAGGATCCCCTCCAAGCCTAAAAGGTTGTTAATAGTTGGAGGTGATTCCAGTGAAGATATTTTATTTCCT
TTGTCCTTTTTCAGGAGAATTAGATTTCTATAGGATTTTTCTTTAGGAGATTTATTTTTTGGACTTCAAA
GCAAGCTGGTATTTTCATACAAATTCTTCTAATTGCTGTGTGTCCCAGGCAGGGAGACGGTTTCCAGGGA
GGGGCCGGCCCTGTGTGCAGGTTCCGATGTTATTAGATGTTACAAGTTTATATATATCTATATATATAAT
TTATTGAGTTTTTACAAGATGTATTTGTTGTAGACTTAACACTTCTTACGCAATGCTTCTAGAGTTTTAT
AGCCTGGACTGCTACCTTTCAAAGCTTGGAGGGAAGCCGTGAATTCAGTTGGTTCGTTCTGTACTGTTAC
TGGGCCCTGAGTCTGGGCAGCTGTCCCTTGCTTGCCTGCAGGGCCATGGCTCAGGGTGGTCTCTTCTTGG
GGCCCAGTGCATGGTGGCCAGAGGTGTCACCCAAACCGGCAGGTGCGATTTTGTTAACCCAGCGACGAAC
TTTCCGAAAAATAAAGACACCTGGTTGCTAA
Pfam (12 motifs)
Pfam |
Position(Independent E-value) |
Description |
472..748(6e-104) |
PF07714, Protein tyrosine and serine/threonine kinase |
|
475..746(6.1e-44) |
PF00069, Protein kinase domain |
|
48..110(0.009) |
PF07679, Immunoglobulin I-set domain |
|
51..110(0.0014) |
PF13927, Immunoglobulin domain |
|
52..115(0.0049) |
PF13895, Immunoglobulin domain |
|
49..110(0.082) |
PF00047, Immunoglobulin domain |
|
201..245(0.14) |
PF07686, Immunoglobulin V-set domain |
|
170..195(0.05) |
PF08205, CD80-like C2-set immunoglobulin domain |
|
588..643(0.12) |
PF03109, ABC1 atypical kinase-like domain |
|
589..680(0.03) |
PF17667, Fungal protein kinase |
|
611..641(0.3) |
PF19974, Ternary complex associated domain 9 |
|
288..338(0.5) |
PF07550, Protein of unknown function (DUF1533) |
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 (-4663.32) 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 826 positions in the final dataset
SNP |
COORDINATE |
AMINO ACID CHANGE |
GENE ID |
TRANSCRIPT ID |
PROTEIN ID |
SIFT SCORE |
SIFT MEDIAN |
SIFT PREDICTION |
rs4647924 |
1803571 |
P70R |
ENSG00000068078 |
ENST00000507588 |
ENSP00000427289 |
0.001 |
3.83 |
DELETERIOUS (WARNING LOW CONFIDENCE) |
rs4647924 |
1803571 |
P250R |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.144 |
2.57 |
TOLERATED |
rs4647924 |
1803571 |
P250R |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0.191 |
2.36 |
TOLERATED |
rs4647924 |
1803571 |
P250R |
ENSG00000068078 |
ENST00000352904 |
ENSP00000231803 |
0.195 |
2.4 |
TOLERATED |
rs4647924 |
1803571 |
P250R |
ENSG00000068078 |
ENST00000412135 |
ENSP00000412903 |
0.195 |
2.4 |
TOLERATED |
rs4647924 |
1803571 |
P250R |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.225 |
2.36 |
TOLERATED |
rs4647924 |
1803571 |
P250R |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.225 |
2.36 |
TOLERATED |
rs28928868 |
1807891 |
K652N |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0 |
2.37 |
DELETERIOUS |
rs28928868 |
1807891 |
K650N |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.001 |
2.35 |
DELETERIOUS |
rs28928868 |
1807891 |
K538N |
ENSG00000068078 |
ENST00000352904 |
ENSP00000231803 |
0.001 |
2.37 |
DELETERIOUS |
rs28928868 |
1807891 |
K538N |
ENSG00000068078 |
ENST00000412135 |
ENSP00000412903 |
0.001 |
2.37 |
DELETERIOUS |
rs28928868 |
1807891 |
K650N |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.001 |
2.35 |
DELETERIOUS |
rs28928868 |
1807891 |
K651N |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.001 |
2.54 |
DELETERIOUS |
rs28928868 |
1807891 |
K652N |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0 |
2.37 |
DELETERIOUS |
rs28928868 |
1807891 |
K650N |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.001 |
2.35 |
DELETERIOUS |
rs28928868 |
1807891 |
K538N |
ENSG00000068078 |
ENST00000352904 |
ENSP00000231803 |
0.001 |
2.37 |
DELETERIOUS |
rs28928868 |
1807891 |
K538N |
ENSG00000068078 |
ENST00000412135 |
ENSP00000412903 |
0.001 |
2.37 |
DELETERIOUS |
rs28928868 |
1807891 |
K650N |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.001 |
2.35 |
DELETERIOUS |
rs28928868 |
1807891 |
K651N |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.001 |
2.54 |
DELETERIOUS |
rs28931614 |
1806119 |
G380R |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.139 |
2.39 |
TOLERATED |
rs28931614 |
1806119 |
G382R |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0.139 |
2.4 |
TOLERATED |
rs28931614 |
1806119 |
G380R |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.139 |
2.39 |
TOLERATED |
rs28931614 |
1806119 |
G380R |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.239 |
2.59 |
TOLERATED |
rs28931614 |
1806119 |
G380R |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.139 |
2.39 |
TOLERATED |
rs28931614 |
1806119 |
G382R |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0.139 |
2.4 |
TOLERATED |
rs28931614 |
1806119 |
G380R |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.139 |
2.39 |
TOLERATED |
rs28931614 |
1806119 |
G380R |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.239 |
2.59 |
TOLERATED |
rs28931615 |
1806153 |
A391E |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.073 |
2.36 |
TOLERATED |
rs28931615 |
1806153 |
A391E |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.073 |
2.36 |
TOLERATED |
rs28931615 |
1806153 |
A393E |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0.08 |
2.36 |
TOLERATED |
rs28931615 |
1806153 |
A391E |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.112 |
2.54 |
TOLERATED |
rs28933068 |
1807371 |
N541K |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.001 |
2.52 |
DELETERIOUS |
rs28933068 |
1807371 |
N540K |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.002 |
2.35 |
DELETERIOUS |
rs28933068 |
1807371 |
N542K |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0.002 |
2.37 |
DELETERIOUS |
rs28933068 |
1807371 |
N540K |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.002 |
2.35 |
DELETERIOUS |
rs28933068 |
1807371 |
N428K |
ENSG00000068078 |
ENST00000352904 |
ENSP00000231803 |
0.028 |
2.37 |
DELETERIOUS |
rs28933068 |
1807371 |
N428K |
ENSG00000068078 |
ENST00000412135 |
ENSP00000412903 |
0.028 |
2.37 |
DELETERIOUS |
rs28933068 |
1807371 |
N541K |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.001 |
2.52 |
DELETERIOUS |
rs28933068 |
1807371 |
N540K |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.002 |
2.35 |
DELETERIOUS |
rs28933068 |
1807371 |
N542K |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0.002 |
2.37 |
DELETERIOUS |
rs28933068 |
1807371 |
N540K |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.002 |
2.35 |
DELETERIOUS |
rs28933068 |
1807371 |
N428K |
ENSG00000068078 |
ENST00000352904 |
ENSP00000231803 |
0.028 |
2.37 |
DELETERIOUS |
rs28933068 |
1807371 |
N428K |
ENSG00000068078 |
ENST00000412135 |
ENSP00000412903 |
0.028 |
2.37 |
DELETERIOUS |
rs75790268 |
1806104 |
G375C |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.043 |
2.37 |
DELETERIOUS |
rs75790268 |
1806104 |
G375C |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.043 |
2.37 |
DELETERIOUS |
rs75790268 |
1806104 |
G377C |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0.046 |
2.39 |
DELETERIOUS |
rs75790268 |
1806104 |
G375C |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.049 |
2.57 |
DELETERIOUS |
rs77722678 |
1807370 |
N540T |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.002 |
2.35 |
DELETERIOUS |
rs77722678 |
1807370 |
N542T |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0.002 |
2.37 |
DELETERIOUS |
rs77722678 |
1807370 |
N540T |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.002 |
2.35 |
DELETERIOUS |
rs77722678 |
1807370 |
N541T |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.013 |
2.52 |
DELETERIOUS |
rs77722678 |
1807370 |
N428T |
ENSG00000068078 |
ENST00000352904 |
ENSP00000231803 |
0.029 |
2.37 |
DELETERIOUS |
rs77722678 |
1807370 |
N428T |
ENSG00000068078 |
ENST00000412135 |
ENSP00000412903 |
0.029 |
2.37 |
DELETERIOUS |
rs77722678 |
1807370 |
N428S |
ENSG00000068078 |
ENST00000352904 |
ENSP00000231803 |
0.02 |
2.37 |
DELETERIOUS |
rs77722678 |
1807370 |
N428S |
ENSG00000068078 |
ENST00000412135 |
ENSP00000412903 |
0.02 |
2.37 |
DELETERIOUS |
rs77722678 |
1807370 |
N540S |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.026 |
2.35 |
DELETERIOUS |
rs77722678 |
1807370 |
N540S |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.026 |
2.35 |
DELETERIOUS |
rs77722678 |
1807370 |
N542S |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0.027 |
2.37 |
DELETERIOUS |
rs77722678 |
1807370 |
N541S |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.05 |
2.52 |
TOLERATED |
rs78311289 |
1807889 |
K652Q |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0 |
2.37 |
DELETERIOUS |
rs78311289 |
1807889 |
K651Q |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.001 |
2.54 |
DELETERIOUS |
rs78311289 |
1807889 |
K650Q |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.002 |
2.35 |
DELETERIOUS |
rs78311289 |
1807889 |
K538Q |
ENSG00000068078 |
ENST00000352904 |
ENSP00000231803 |
0.002 |
2.37 |
DELETERIOUS |
rs78311289 |
1807889 |
K538Q |
ENSG00000068078 |
ENST00000412135 |
ENSP00000412903 |
0.002 |
2.37 |
DELETERIOUS |
rs78311289 |
1807889 |
K650Q |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.002 |
2.35 |
DELETERIOUS |
rs78311289 |
1807889 |
K652E |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0 |
2.37 |
DELETERIOUS |
rs78311289 |
1807889 |
K650E |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.001 |
2.35 |
DELETERIOUS |
rs78311289 |
1807889 |
K538E |
ENSG00000068078 |
ENST00000352904 |
ENSP00000231803 |
0.001 |
2.37 |
DELETERIOUS |
rs78311289 |
1807889 |
K538E |
ENSG00000068078 |
ENST00000412135 |
ENSP00000412903 |
0.001 |
2.37 |
DELETERIOUS |
rs78311289 |
1807889 |
K650E |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.001 |
2.35 |
DELETERIOUS |
rs78311289 |
1807889 |
K651E |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.001 |
2.54 |
DELETERIOUS |
rs80053154 |
1807363 |
I538V |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.032 |
2.35 |
DELETERIOUS |
rs80053154 |
1807363 |
I538V |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.032 |
2.35 |
DELETERIOUS |
rs80053154 |
1807363 |
I540V |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0.033 |
2.37 |
DELETERIOUS |
rs80053154 |
1807363 |
I426V |
ENSG00000068078 |
ENST00000352904 |
ENSP00000231803 |
0.068 |
2.37 |
TOLERATED |
rs80053154 |
1807363 |
I426V |
ENSG00000068078 |
ENST00000412135 |
ENSP00000412903 |
0.068 |
2.37 |
TOLERATED |
rs80053154 |
1807363 |
I539V |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.135 |
2.52 |
TOLERATED |
rs121913101 |
1808987 |
*807R |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
|||
rs121913101 |
1808987 |
*809R |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
|||
rs121913101 |
1808987 |
*695R |
ENSG00000068078 |
ENST00000352904 |
ENSP00000231803 |
|||
rs121913101 |
1808987 |
*695R |
ENSG00000068078 |
ENST00000412135 |
ENSP00000412903 |
|||
rs121913101 |
1808987 |
*807R |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
|||
rs121913101 |
1808987 |
V784E |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
|||
rs121913101 |
1808987 |
*807G |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
|||
rs121913101 |
1808987 |
*809G |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
|||
rs121913101 |
1808987 |
*695G |
ENSG00000068078 |
ENST00000352904 |
ENSP00000231803 |
|||
rs121913101 |
1808987 |
*695G |
ENSG00000068078 |
ENST00000412135 |
ENSP00000412903 |
|||
rs121913101 |
1808987 |
*807G |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
|||
rs121913101 |
1808987 |
V784G |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
|||
rs121913103 |
1808989 |
K785* |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
|||
rs121913103 |
1808989 |
*807C |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
|||
rs121913103 |
1808989 |
*809C |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
|||
rs121913103 |
1808989 |
*695C |
ENSG00000068078 |
ENST00000352904 |
ENSP00000231803 |
|||
rs121913103 |
1808989 |
*695C |
ENSG00000068078 |
ENST00000412135 |
ENSP00000412903 |
|||
rs121913103 |
1808989 |
*807C |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
|||
rs121913105 |
1807890 |
K650M |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0 |
2.35 |
DELETERIOUS |
rs121913105 |
1807890 |
K652M |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0 |
2.37 |
DELETERIOUS |
rs121913105 |
1807890 |
K538M |
ENSG00000068078 |
ENST00000352904 |
ENSP00000231803 |
0 |
2.37 |
DELETERIOUS |
rs121913105 |
1807890 |
K538M |
ENSG00000068078 |
ENST00000412135 |
ENSP00000412903 |
0 |
2.37 |
DELETERIOUS |
rs121913105 |
1807890 |
K650M |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0 |
2.35 |
DELETERIOUS |
rs121913105 |
1807890 |
K651M |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0 |
2.54 |
DELETERIOUS |
rs121913111 |
1805452 |
E108K |
ENSG00000068078 |
ENST00000507588 |
ENSP00000427289 |
0 |
3.88 |
DELETERIOUS (WARNING LOW CONFIDENCE) |
rs121913111 |
1805452 |
E322K |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.032 |
2.6 |
DELETERIOUS |
rs121913111 |
1805452 |
E322K |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.037 |
2.38 |
DELETERIOUS |
rs121913111 |
1805452 |
E322K |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.037 |
2.38 |
DELETERIOUS |
rs121913112 |
1807288 |
D514N |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.285 |
2.54 |
TOLERATED |
rs121913112 |
1807288 |
D515N |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0.344 |
2.36 |
TOLERATED |
rs121913112 |
1807288 |
D513N |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.348 |
2.36 |
TOLERATED |
rs121913112 |
1807288 |
D513N |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.348 |
2.36 |
TOLERATED |
rs121913112 |
1807288 |
D401N |
ENSG00000068078 |
ENST00000352904 |
ENSP00000231803 |
0.375 |
2.37 |
TOLERATED |
rs121913112 |
1807288 |
D401N |
ENSG00000068078 |
ENST00000412135 |
ENSP00000412903 |
0.375 |
2.37 |
TOLERATED |
rs121913113 |
1807803 |
R621H |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0 |
2.35 |
DELETERIOUS |
rs121913113 |
1807803 |
R623H |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0 |
2.37 |
DELETERIOUS |
rs121913113 |
1807803 |
R509H |
ENSG00000068078 |
ENST00000352904 |
ENSP00000231803 |
0 |
2.37 |
DELETERIOUS |
rs121913113 |
1807803 |
R509H |
ENSG00000068078 |
ENST00000412135 |
ENSP00000412903 |
0 |
2.37 |
DELETERIOUS |
rs121913113 |
1807803 |
R621H |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0 |
2.35 |
DELETERIOUS |
rs121913113 |
1807803 |
R622H |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0 |
2.52 |
DELETERIOUS |
rs121913114 |
1803657 |
S279C |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.001 |
2.36 |
DELETERIOUS |
rs121913114 |
1803657 |
S279C |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0.001 |
2.36 |
DELETERIOUS |
rs121913114 |
1803657 |
S279C |
ENSG00000068078 |
ENST00000352904 |
ENSP00000231803 |
0.001 |
2.4 |
DELETERIOUS |
rs121913114 |
1803657 |
S279C |
ENSG00000068078 |
ENST00000412135 |
ENSP00000412903 |
0.001 |
2.4 |
DELETERIOUS |
rs121913114 |
1803657 |
S279C |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.001 |
2.36 |
DELETERIOUS |
rs121913114 |
1803657 |
S279C |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.001 |
2.56 |
DELETERIOUS |
rs121913115 |
1803655 |
Y278C |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0.006 |
2.36 |
DELETERIOUS |
rs121913115 |
1803655 |
Y278C |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.014 |
2.36 |
DELETERIOUS |
rs121913115 |
1803655 |
Y278C |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.014 |
2.36 |
DELETERIOUS |
rs121913115 |
1803655 |
Y278C |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.016 |
2.56 |
DELETERIOUS |
rs121913115 |
1803655 |
Y278C |
ENSG00000068078 |
ENST00000352904 |
ENSP00000231803 |
0.019 |
2.4 |
DELETERIOUS |
rs121913115 |
1803655 |
Y278C |
ENSG00000068078 |
ENST00000412135 |
ENSP00000412903 |
0.019 |
2.4 |
DELETERIOUS |
rs121913116 |
1801122 |
S84L |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.051 |
2.91 |
TOLERATED |
rs121913116 |
1801122 |
S84L |
ENSG00000068078 |
ENST00000352904 |
ENSP00000231803 |
0.108 |
2.6 |
TOLERATED |
rs121913116 |
1801122 |
S84L |
ENSG00000068078 |
ENST00000412135 |
ENSP00000412903 |
0.108 |
2.6 |
TOLERATED |
rs121913116 |
1801122 |
S84L |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.146 |
2.51 |
TOLERATED |
rs121913116 |
1801122 |
S84L |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0.146 |
2.52 |
TOLERATED |
rs121913116 |
1801122 |
S84L |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.146 |
2.51 |
TOLERATED |
rs121913479 |
1806089 |
G370C |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.077 |
2.55 |
TOLERATED |
rs121913479 |
1806089 |
G370C |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.152 |
2.38 |
TOLERATED |
rs121913479 |
1806089 |
G370C |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.152 |
2.38 |
TOLERATED |
rs121913479 |
1806089 |
G372C |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0.173 |
2.36 |
TOLERATED |
rs121913482 |
1803564 |
R248C |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0 |
2.36 |
DELETERIOUS |
rs121913482 |
1803564 |
R248C |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0 |
2.36 |
DELETERIOUS |
rs121913482 |
1803564 |
R248C |
ENSG00000068078 |
ENST00000352904 |
ENSP00000231803 |
0 |
2.41 |
DELETERIOUS |
rs121913482 |
1803564 |
R248C |
ENSG00000068078 |
ENST00000412135 |
ENSP00000412903 |
0 |
2.41 |
DELETERIOUS |
rs121913482 |
1803564 |
R248C |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0 |
2.36 |
DELETERIOUS |
rs121913482 |
1803564 |
R248C |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0 |
2.57 |
DELETERIOUS |
rs121913482 |
1803564 |
R68C |
ENSG00000068078 |
ENST00000507588 |
ENSP00000427289 |
0 |
3.83 |
DELETERIOUS (WARNING LOW CONFIDENCE) |
rs121913483 |
1803568 |
S69C |
ENSG00000068078 |
ENST00000507588 |
ENSP00000427289 |
0 |
3.83 |
DELETERIOUS (WARNING LOW CONFIDENCE) |
rs121913483 |
1803568 |
S249C |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.103 |
2.57 |
TOLERATED |
rs121913483 |
1803568 |
S249C |
ENSG00000068078 |
ENST00000352904 |
ENSP00000231803 |
0.172 |
2.41 |
TOLERATED |
rs121913483 |
1803568 |
S249C |
ENSG00000068078 |
ENST00000412135 |
ENSP00000412903 |
0.172 |
2.41 |
TOLERATED |
rs121913483 |
1803568 |
S249C |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.173 |
2.36 |
TOLERATED |
rs121913483 |
1803568 |
S249C |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.173 |
2.36 |
TOLERATED |
rs121913483 |
1803568 |
S249C |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0.174 |
2.36 |
TOLERATED |
rs121913484 |
1806092 |
S373C |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0.052 |
2.31 |
TOLERATED |
rs121913484 |
1806092 |
S371C |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.065 |
2.33 |
TOLERATED |
rs121913484 |
1806092 |
S371C |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.065 |
2.33 |
TOLERATED |
rs121913484 |
1806092 |
S371C |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.185 |
2.54 |
TOLERATED |
rs121913485 |
1806099 |
Y375C |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0.029 |
2.35 |
DELETERIOUS |
rs121913485 |
1806099 |
Y373C |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.035 |
2.54 |
DELETERIOUS |
rs121913485 |
1806099 |
Y373C |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.039 |
2.35 |
DELETERIOUS |
rs121913485 |
1806099 |
Y373C |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.039 |
2.35 |
DELETERIOUS |
rs267606808 |
1807123 |
Q487R |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0.209 |
2.37 |
TOLERATED |
rs267606808 |
1807123 |
Q485R |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.241 |
2.36 |
TOLERATED |
rs267606808 |
1807123 |
Q485R |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.241 |
2.36 |
TOLERATED |
rs267606808 |
1807123 |
Q486R |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.241 |
2.54 |
TOLERATED |
rs267606808 |
1807123 |
Q373R |
ENSG00000068078 |
ENST00000352904 |
ENSP00000231803 |
0.367 |
2.37 |
TOLERATED |
rs267606808 |
1807123 |
Q373R |
ENSG00000068078 |
ENST00000412135 |
ENSP00000412903 |
0.367 |
2.37 |
TOLERATED |
rs267606809 |
1806111 |
L379R |
ENSG00000068078 |
ENST00000340107 |
ENSP00000339824 |
0.083 |
2.35 |
TOLERATED |
rs267606809 |
1806111 |
L377R |
ENSG00000068078 |
ENST00000481110 |
ENSP00000420533 |
0.09 |
2.55 |
TOLERATED |
rs267606809 |
1806111 |
L377R |
ENSG00000068078 |
ENST00000260795 |
ENSP00000260795 |
0.129 |
2.35 |
TOLERATED |
rs267606809 |
1806111 |
L377R |
ENSG00000068078 |
ENST00000440486 |
ENSP00000414914 |
0.129 |
2.35 |
TOLERATED |
Evolutionary analysis of coding SNPs
SNP |
substitution |
Message |
Pdel |
rs4647924 |
P250R |
probably damaging |
0.74 |
rs4647924 |
P250R |
probably damaging |
0.74 |
rs4647924 |
P250R |
probably damaging |
0.74 |
rs4647924 |
P250R |
probably damaging |
0.74 |
rs4647924 |
P250R |
probably damaging |
0.74 |
rs4647924 |
P250R |
probably damaging |
0.74 |
rs28928868 |
K650N |
probably damaging |
0.85 |
rs28928868 |
K650N |
probably damaging |
0.85 |
rs28928868 |
K650N |
probably damaging |
0.85 |
rs28928868 |
K650N |
probably damaging |
0.85 |
rs28931614 |
G380R |
possibly damaging |
0.5 |
rs28931614 |
G382R |
probably damaging |
0.74 |
rs28931614 |
G380R |
possibly damaging |
0.5 |
rs28931614 |
G380R |
possibly damaging |
0.5 |
rs28931614 |
G380R |
possibly damaging |
0.5 |
rs28931614 |
G382R |
probably damaging |
0.74 |
rs28931614 |
G380R |
possibly damaging |
0.5 |
rs28931614 |
G380R |
possibly damaging |
0.5 |
rs28931615 |
A391E |
probably benign |
0.27 |
rs28931615 |
A391E |
probably benign |
0.27 |
rs28931615 |
A391E |
probably benign |
0.27 |
rs28933068 |
N540K |
probably damaging |
0.85 |
rs28933068 |
N540K |
probably damaging |
0.85 |
rs28933068 |
N428K |
probably damaging |
0.57 |
rs28933068 |
N428K |
probably damaging |
0.57 |
rs28933068 |
N540K |
probably damaging |
0.85 |
rs28933068 |
N540K |
probably damaging |
0.85 |
rs28933068 |
N428K |
probably damaging |
0.57 |
rs28933068 |
N428K |
probably damaging |
0.57 |
rs75790268 |
G375C |
possibly damaging |
0.5 |
rs75790268 |
G375C |
possibly damaging |
0.5 |
rs75790268 |
G375C |
possibly damaging |
0.5 |
rs77722678 |
N540T |
probably damaging |
0.85 |
rs77722678 |
N540T |
probably damaging |
0.85 |
rs77722678 |
N428T |
probably damaging |
0.57 |
rs77722678 |
N428T |
probably damaging |
0.57 |
rs77722678 |
N428S |
probably damaging |
0.57 |
rs77722678 |
N428S |
probably damaging |
0.57 |
rs77722678 |
N540S |
probably damaging |
0.85 |
rs77722678 |
N540S |
probably damaging |
0.85 |
rs78311289 |
K650Q |
probably damaging |
0.85 |
rs78311289 |
K650Q |
probably damaging |
0.85 |
rs78311289 |
K650E |
probably damaging |
0.85 |
rs78311289 |
K650E |
probably damaging |
0.85 |
rs80053154 |
I538V |
probably damaging |
0.85 |
rs80053154 |
I538V |
probably damaging |
0.85 |
rs80053154 |
I539V |
probably damaging |
0.85 |
rs121913101 |
K650M |
probably damaging |
0.85 |
rs121913101 |
K650M |
probably damaging |
0.85 |
rs121913101 |
E322K |
probably damaging |
0.74 |
rs121913101 |
E322K |
probably damaging |
0.74 |
rs121913101 |
E322K |
probably damaging |
0.74 |
rs121913103 |
D513N |
probably damaging |
0.78 |
rs121913103 |
D513N |
probably damaging |
0.78 |
rs121913105 |
R621H |
probably damaging |
0.85 |
rs121913105 |
R621H |
probably damaging |
0.85 |
rs121913111 |
S279C |
probably damaging |
0.74 |
rs121913111 |
S279C |
probably damaging |
0.74 |
rs121913111 |
S279C |
probably damaging |
0.74 |
rs121913111 |
S279C |
probably damaging |
0.74 |
rs121913112 |
S279C |
probably damaging |
0.74 |
rs121913112 |
S279C |
probably damaging |
0.74 |
rs121913112 |
Y278C |
probably damaging |
0.74 |
rs121913112 |
Y278C |
probably damaging |
0.74 |
rs121913112 |
Y278C |
probably damaging |
0.74 |
rs121913112 |
Y278C |
probably damaging |
0.74 |
rs121913113 |
Y278C |
probably damaging |
0.74 |
rs121913113 |
Y278C |
probably damaging |
0.74 |
rs121913113 |
S84L |
probably benign |
0.27 |
rs121913113 |
S84L |
probably benign |
0.27 |
rs121913113 |
S84L |
probably benign |
0.27 |
rs121913113 |
S84L |
probably benign |
0.27 |
rs121913114 |
S84L |
probably benign |
0.27 |
rs121913114 |
S84L |
probably benign |
0.27 |
rs121913114 |
G370C |
possibly damaging |
0.5 |
rs121913114 |
G370C |
possibly damaging |
0.5 |
rs121913114 |
G370C |
possibly damaging |
0.5 |
rs121913115 |
R248C |
probably damaging |
0.74 |
rs121913115 |
R248C |
probably damaging |
0.74 |
rs121913115 |
R248C |
probably damaging |
0.74 |
rs121913115 |
R248C |
probably damaging |
0.74 |
rs121913115 |
R248C |
probably damaging |
0.74 |
rs121913115 |
R248C |
probably damaging |
0.74 |
rs121913116 |
S249C |
probably damaging |
0.74 |
rs121913116 |
S249C |
probably damaging |
0.74 |
rs121913116 |
S249C |
probably damaging |
0.74 |
rs121913116 |
S249C |
probably damaging |
0.74 |
rs121913479 |
S249C |
probably damaging |
0.74 |
rs121913479 |
S249C |
probably damaging |
0.74 |
rs121913479 |
S371C |
possibly damaging |
0.5 |
rs121913482 |
S371C |
possibly damaging |
0.5 |
rs121913482 |
S371C |
possibly damaging |
0.5 |
rs121913482 |
Y373C |
probably damaging |
0.74 |
rs121913482 |
Y373C |
probably damaging |
0.74 |
rs121913482 |
Y373C |
probably damaging |
0.74 |
rs121913483 |
Q485R |
probably damaging |
0.74 |
rs121913483 |
Q485R |
probably damaging |
0.74 |
rs121913483 |
L377R |
possibly damaging |
0.5 |
rs121913484 |
L377R |
possibly damaging |
0.5 |
rs121913484 |
L377R |
possibly damaging |
0.5 |
Provean
SNP IDS |
AMINO ACID CHANGE |
Probability |
Prediction |
Score |
rs121918550 |
S263P |
Damaging |
Deleterious |
-4.12 |
rs121918550 |
S230P |
Damaging |
Deleterious |
-4.12 |
rs121918550 |
L139P |
Damaging |
Deleterious |
-4.12 |
rs121918551 |
L397F |
Damaging |
Neutral |
-2.27 |
rs121918551 |
L430F |
Damaging |
Neutral |
-2.27 |
rs121918551 |
D306F |
Tolarated |
Neutral |
-2.27 |
SNAP 2
Wildtype Amino Acid
|
Position |
Variant Amino Acid |
Predicted Effect |
Score |
Expected Accuracy |
S |
263 |
P |
effect |
85 |
91% |
S |
230 |
P |
effect |
73 |
85% |
L |
139 |
p |
neutral |
-29 |
61% |
L |
397 |
F |
effect |
25 |
63% |
L |
430 |
F |
effect |
2 |
53% |
D |
306 |
F |
effect |
75 |
85% |
Polyphen 2
Rs_Id |
Mutation Probability |
Score |
rs4647924 |
Possibly damaging |
1.00 |
rs4647924 |
Probably damaging |
0.999 |
rs4647924 |
Probably damaging |
0.98 |
rs4647924 |
Possibly damaging |
1.00 |
rs4647924 |
Possibly damaging |
1.00 |
rs4647924 |
Probably damaging |
0.999 |
rs28928868 |
Probably damaging |
0.98 |
rs28928868 |
Probably damaging |
0.999 |
rs28928868 |
Possibly damaging |
1.00 |
rs28928868 |
Probably damaging |
0.999 |
rs28931614 |
Probably damaging |
0.98 |
rs28931614 |
Probably damaging |
0.999 |
rs28931614 |
Probably damaging |
0.98 |
rs28931614 |
Possibly damaging |
0.98 |
rs28931614 |
Possibly damaging |
1.00 |
rs28931614 |
Probably damaging |
0.999 |
rs28931614 |
Probably damaging |
0.98 |
rs28931614 |
Possibly damaging |
1.00 |
rs28931615 |
Possibly damaging |
1.00 |
rs28931615 |
Probably damaging |
0.999 |
rs28931615 |
Probably damaging |
0.98 |
rs28933068 |
Possibly damaging |
1.00 |
rs28933068 |
Probably damaging |
0.98 |
rs28933068 |
Possibly damaging |
1.00 |
rs28933068 |
Probably damaging |
0.999 |
rs28933068 |
Probably damaging |
0.98 |
rs28933068 |
Possibly damaging |
1.00 |
rs28933068 |
Possibly damaging |
1.00 |
rs28933068 |
Probably damaging |
0.999 |
rs75790268 |
Probably damaging |
0.98 |
rs75790268 |
Possibly damaging |
1.00 |
rs75790268 |
Possibly damaging |
1.00 |
rs77722678 |
Probably damaging |
0.999 |
rs77722678 |
Possibly damaging |
1.00 |
rs77722678 |
Probably damaging |
0.999 |
rs77722678 |
Probably damaging |
0.98 |
rs77722678 |
Possibly damaging |
1.00 |
rs77722678 |
Possibly damaging |
1.00 |
rs77722678 |
Possibly damaging |
1.00 |
rs77722678 |
Probably damaging |
0.999 |
rs78311289 |
Probably damaging |
0.98 |
rs78311289 |
Probably damaging |
0.98 |
rs78311289 |
Possibly damaging |
1.00 |
rs78311289 |
Probably damaging |
0.999 |
rs80053154 |
Probably damaging |
0.98 |
rs80053154 |
Possibly damaging |
1.00 |
Hope Prediction
Rs_ids |
Mutation |
Mapping issue |
AA |
Function. |
Score |
rs121918550 |
AAAS_HUMAN S263P |
|
S263P |
high |
4.145
|
rs121918550 |
AAAS_HUMAN S230P |
Uniprot residue: R |
|
|
|
rs121918550 |
AAAS_HUMAN L139P |
|
L139P |
medium |
2.085 |
rs121918551 |
AAAS_HUMAN L397F |
Uniprot residue: G |
|
|
|
rs121918551 |
AAAS_HUMAN L430F |
|
L430F |
low |
1.625 |
rs121918551 |
AAAS_HUMAN L306F |
Uniprot residue: T |
|
|
|
Rank |
C-Score |
Cluster Size |
PDB Hit |
Lig Name |
Consensus Building Residues |
1 |
0.45 |
306 |
478,479,480,486,506,508,525,539, 555,556,557,558,624,635 |
||
2 |
0.27 |
194 |
478,486,506,508,525,529,539,553, 555,556,557,558,561,621,622,624, 634,635,636 |
||
3 |
0.04 |
20 |
622,635 |
||
4 |
0.01 |
6 |
525,526,529,539,553,555,615,616, 633,634,655,656,671 |
||
5 |
0.01 |
13 |
508,622,635 |
||
6 |
0.01 |
6 |
480,486,558,562,564,565,617,621, 650,651,652,653,654,655,656,657, 658,660,665,666,667,668,669,671, 693,700 |
||
7 |
0.01 |
8 |
617,621,650,652,653,654,655,656, 657,660,665,666,668,669,700 |
||
8 |
0.01 |
6 |
506,507,508,521,525,529,532,539, 553,555,634,635 |
||
9 |
0.00 |
1 |
518,641,643 |
||
10 |
0.00 |
1 |
695,696,713,714 |
Number of amino acids
|
806
|
Molecular weight
|
87709.64
|
Theoretical pI
|
5.59
|
Amino acid composition
|
Ala (A) 66 8.2% Arg (R) 44 5.5% Asn (N) 22 2.7% Asp (D) 47 5.8% Cys (C) 17 2.1% Gln (Q) 26 3.2% Glu (E) 53 6.6% Gly (G) 68 8.4% His (H) 20 2.5% Ile (I) 22 2.7% Leu (L) 80 9.9% Lys (K) 37 4.6% Met (M) 17 2.1% Phe (F) 24 3.0% Pro (P) 56 6.9% Ser (S) 61 7.6% Thr (T) 43 5.3% Trp (W) 11 1.4% Tyr (Y) 21 2.6% Val (V) 71 8.8% Pyl (O) 0 0.0% Sec (U) 0 0.0%
|
Total number of negatively charged residues (Asp + Glu)
|
100
|
Total number of positively charged residues (Arg + Lys)
|
81
|
Formula
|
C3875H6106N1074O1180S34
|
Total number of atoms(12269)
|
Carbon C 3875
Hydrogen H 6106
Nitrogen N 1074
Oxygen O 1180
Sulfur S 34
|
Instability index(II)
|
44.33
|
Stability
|
Protein is unstable
|
Aliphatic index(AI)
|
83.09
|
GRAVY
|
-0.242
|
Alpha helix (Hh) : 198 is 24.57% 310 helix (Gg) : 0 is 0.00% Pi helix (Ii) : 0 is 0.00% Beta bridge (Bb) : 0 is 0.00% Extended strand (Ee) : 176 is 21.84% Beta turn (Tt) : 37 is 4.59% Bend region (Ss) : 0 is 0.00% Random coil (Cc) : 395 is 49.01% 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 |
44 |
Asp-N endopeptidase |
47 |
Asp-N endopeptidase + N-terminal Glu |
100 |
BNPS-Skatole |
11 |
CNBr |
17 |
Caspase1 |
1 |
Chymotrypsin-high specificity (C-term to [FYW], not before P) |
53 |
Chymotrypsin-low specificity (C-term to [FYWML], not before P) |
163 |
Clostripain |
44 |
Formic acid |
47 |
Glutamyl endopeptidase |
53 |
Hydroxylamine |
3 |
Iodosobenzoic acid |
11 |
LysC |
37 |
LysN |
37 |
NTCB (2-nitro-5-thiocyanobenzoic acid) |
17 |
Pepsin (pH1.3) |
150 |
Pepsin (pH>2) |
190 |
Proline-endopeptidase |
6 |
Proteinase K |
391 |
Staphylococcal peptidase I |
49 |
Thermolysin |
225 |
Trypsin |
71 |
Peptide Rank |
Start Position |
Sequence |
Score |
Prediction |
1 |
387 |
EDAGEYTCL |
1 |
Epitope |
2 |
506 |
LANVSELEL |
1 |
Epitope |
3 |
522 |
LSRARLTLG |
1 |
Epitope |
4 |
547 |
IGIDKDRAA |
1 |
Epitope |
5 |
696 |
DVHNLDYYK |
1 |
Epitope |
No of Nodes |
11 |
No of Edges |
32 |
Avg node degree |
5.82 |
avg. local clustering coefficient |
0.878 |
expected number of edges |
11 |
p-value |
1.81e-07 |
Protein – Protein Interaction network |
|