No paralogue variants have been mapped to residue 25 for SCN5A.
SCN5A | -----------LPRGTSSFRRFTRESLAAI>E<KRMAEK-QARGSTTLQESRE-GLPEE--EA | 51 |
SCN1A | -----------VPPGPDSFNFFTRESLAAI>E<RRIAEE-KAKNPKPD----K-KDDDE--NG | 48 |
SCN2A | -----------VPPGPDSFRFFTRESLAAI>E<QRIAEE-KAKRPKQE----RKDEDDE--NG | 49 |
SCN3A | -----------VPPGPESFRLFTRESLAAI>E<KRAAEE-KAKKPKKE----Q-DNDDE--NK | 48 |
SCN4A | -----------VPLGPECLRPFTRESLAAI>E<QRAVEE-EARLQRNK----Q-MEIEE--PE | 51 |
SCN7A | -----------ASPEPKGLVPFTKESFELI>K<QHIAKT--------H----N-EDHEE--ED | 37 |
SCN8A | -----------APPGPDSFKPFTPESLANI>E<RRIAES-KLKKPPKADGSHR-EDDED--SK | 52 |
SCN9A | -----------PPPGPQSFVHFTKQSLALI>E<QRIAER-KSKEPKEE----K-KDDDE--EA | 46 |
SCN10A | -----------GSLETNNFRRFTPESLVEI>E<KQIAAKQGT-KKARE-KHRE-QKDQE--EK | 50 |
SCN11A | -----------IFPDERNFRPFTSDSLAAI>E<KRIAIQ-KEKKKSK-----D-QTGEV--PQ | 49 |
CACNA1A | --EM-PARYGG------------GGSGAAA>G<V-------------VVGSG-GGRGAG--GS | 36 |
CACNA1B | --EL-GGRYGG------------PGGGERA>-<----------------RGG-GAGGAG--GP | 32 |
CACNA1C | EENHQGSNYGS------------PR-PAHA>N<MN--------A-NAAAGLA----PEH--IP | 44 |
CACNA1D | KMQHQRQQQAD--------H--ANE-ANYA>R<GT--------R-LPLSGEG----PTSQPNS | 45 |
CACNA1E | --AV-VARPGS---------------GDGD>-<---------------SD-Q-SRNRQG--TP | 29 |
CACNA1F | -GG----KDTT------------PE-PSPA>N<--------------GAGPG----PEWGLCP | 30 |
CACNA1G | -----------GAEESGQP-R-S------->-<-F--------M--RLND------LSG--AG | 29 |
CACNA1H | V-RV-P--LGAPPPGPAALVGASPESPGAP>G<RE--------A--ERGS------ELG--VS | 49 |
CACNA1I | -----------SPPSSSAAAPAA------->-<----------E--PGVTTE----QPG--P- | 28 |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E25G | c.74A>G | Putative Benign | SIFT: deleterious Polyphen: probably damaging | ||
p.E25K | c.73G>A | Putative Benign | SIFT: Polyphen: |