No paralogue variants have been mapped to residue 62 for SCN5A.
SCN5A | GSTTLQESRE-GLPEE--EAPRPQLDLQAS>K<KLPDLYGNPPQELIGEPLEDLDPFYSTQK- | 91 |
SCN1A | NPKPD----K-KDDDE--NGPKPNSDLEAG>K<NLPFIYGDIPPEMVSEPLEDLDPYYINKK- | 88 |
SCN2A | RPKQE----RKDEDDE--NGPKPNSDLEAG>K<SLPFIYGDIPPEMVSVPLEDLDPYYINKK- | 89 |
SCN3A | KPKKE----Q-DNDDE--NKPKPNSDLEAG>K<NLPFIYGDIPPEMVSEPLEDLDPYYINKK- | 88 |
SCN4A | LQRNK----Q-MEIEE--PERKPRSDLEAG>K<NLPMIYGDPPPEVIGIPLEDLDPYYSNKK- | 91 |
SCN7A | ----H----N-EDHEE--EDLKPTPDLEVG>K<KLPFIYGNLSQGMVSEPLEDVDPYYYKKKN | 78 |
SCN8A | KPPKADGSHR-EDDED--SKPKPNSDLEAG>K<SLPFIYGDIPQGLVAVPLEDFDPYYLTQK- | 92 |
SCN9A | EPKEE----K-KDDDE--EAPKPSSDLEAG>K<QLPFIYGDIPPGMVSEPLEDLDPYYADKK- | 86 |
SCN10A | KKARE-KHRE-QKDQE--EKPRPQLDLKAC>N<QLPKFYGELPAELIGEPLEDLDPFYSTHR- | 90 |
SCN11A | KKSK-----D-QTGEV--PQPRPQLDLKAS>R<KLPKLYGDIPRELIGKPLEDLDPFYRNHK- | 89 |
CACNA1A | ----VVGSG-GGRGAG--GSRQGGQ----->-<--PGA-----------QRMYKQSMAQRART | 58 |
CACNA1B | ------RGG-GAGGAG--GPGPGGLQ---->-<--PGQ-----------RVLYKQSIAQRART | 55 |
CACNA1C | A-NAAAGLA----PEH--IPTPGAALSWQA>A<IDAARQAKLMGSAGNATISTVSST-QRKRQ | 84 |
CACNA1D | R-LPLSGEG----PTSQPNSSKQTVLSWQA>A<IDAARQAKAAQTMSTSAPPPVGSLSQRKRQ | 86 |
CACNA1E | -----SD-Q-SRNRQG--TPVPA------->-<--SGQ-----------AAAYKQTKAQRART | 49 |
CACNA1F | ----GAGPG----PEWGLCPGP----P--->-<---AV--------EGESSGASGLGTPKRRN | 52 |
CACNA1G | M--RLND------LSG--AGGRP------->-<---G-----------PGSA-------EKDP | 41 |
CACNA1H | A--ERGS------ELG--VSPSE------->-<---S-----------P-AA-------ERGA | 60 |
CACNA1I | E--PGVTTE----QPG--P--RS--P---->-<--PS-----------SPPG-------LEEP | 41 |
CACNA1S | ------------------------------>-<----------------------SSPQDEGL | 11 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K62T | c.185A>C | Putative Benign | rs200344525 | SIFT: deleterious Polyphen: probably damaging |