No paralogue variants have been mapped to residue 28 for SCN5A.
SCN5A | --------LPRGTSSFRRFTRESLAAIEKR>M<AEK-QARGSTTLQESRE-GLPEE--EAPRP | 54 |
SCN1A | --------VPPGPDSFNFFTRESLAAIERR>I<AEE-KAKNPKPD----K-KDDDE--NGPKP | 51 |
SCN2A | --------VPPGPDSFRFFTRESLAAIEQR>I<AEE-KAKRPKQE----RKDEDDE--NGPKP | 52 |
SCN3A | --------VPPGPESFRLFTRESLAAIEKR>A<AEE-KAKKPKKE----Q-DNDDE--NKPKP | 51 |
SCN4A | --------VPLGPECLRPFTRESLAAIEQR>A<VEE-EARLQRNK----Q-MEIEE--PERKP | 54 |
SCN7A | --------ASPEPKGLVPFTKESFELIKQH>I<AKT--------H----N-EDHEE--EDLKP | 40 |
SCN8A | --------APPGPDSFKPFTPESLANIERR>I<AES-KLKKPPKADGSHR-EDDED--SKPKP | 55 |
SCN9A | --------PPPGPQSFVHFTKQSLALIEQR>I<AER-KSKEPKEE----K-KDDDE--EAPKP | 49 |
SCN10A | --------GSLETNNFRRFTPESLVEIEKQ>I<AAKQGT-KKARE-KHRE-QKDQE--EKPRP | 53 |
SCN11A | --------IFPDERNFRPFTSDSLAAIEKR>I<AIQ-KEKKKSK-----D-QTGEV--PQPRP | 52 |
CACNA1A | M-PARYGG------------GGSGAAAGV->-<-----------VVGSG-GGRGAG--GSRQG | 39 |
CACNA1B | L-GGRYGG------------PGGGERA--->-<-------------RGG-GAGGAG--GPGPG | 35 |
CACNA1C | HQGSNYGS------------PR-PAHANMN>-<-------A-NAAAGLA----PEH--IPTPG | 47 |
CACNA1D | HQRQQQAD--------H--ANE-ANYARGT>-<-------R-LPLSGEG----PTSQPNSSKQ | 48 |
CACNA1E | V-VARPGS---------------GDGD--->-<------------SD-Q-SRNRQG--TPVPA | 32 |
CACNA1F | ----KDTT------------PE-PSPAN-->-<-----------GAGPG----PEWGLCPGP- | 32 |
CACNA1G | --------GAEESGQP-R-S---------F>-<-------M--RLND------LSG--AGGRP | 32 |
CACNA1H | V-P--LGAPPPGPAALVGASPESPGAPGRE>-<-------A--ERGS------ELG--VSPSE | 52 |
CACNA1I | --------SPPSSSAAAPAA---------->-<-------E--PGVTTE----QPG--P--RS | 30 |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M28T | c.83T>C | Putative Benign | SIFT: Polyphen: | ||
p.M28L | c.82A>T | Putative Benign | SIFT: Polyphen: |