No paralogue variants have been mapped to residue 30 for SCN5A.
SCN5A | ------LPRGTSSFRRFTRESLAAIEKRMA>E<K-QARGSTTLQESRE-GLPEE--EAPRPQL | 56 |
SCN1A | ------VPPGPDSFNFFTRESLAAIERRIA>E<E-KAKNPKPD----K-KDDDE--NGPKPNS | 53 |
SCN2A | ------VPPGPDSFRFFTRESLAAIEQRIA>E<E-KAKRPKQE----RKDEDDE--NGPKPNS | 54 |
SCN3A | ------VPPGPESFRLFTRESLAAIEKRAA>E<E-KAKKPKKE----Q-DNDDE--NKPKPNS | 53 |
SCN4A | ------VPLGPECLRPFTRESLAAIEQRAV>E<E-EARLQRNK----Q-MEIEE--PERKPRS | 56 |
SCN7A | ------ASPEPKGLVPFTKESFELIKQHIA>K<T--------H----N-EDHEE--EDLKPTP | 42 |
SCN8A | ------APPGPDSFKPFTPESLANIERRIA>E<S-KLKKPPKADGSHR-EDDED--SKPKPNS | 57 |
SCN9A | ------PPPGPQSFVHFTKQSLALIEQRIA>E<R-KSKEPKEE----K-KDDDE--EAPKPSS | 51 |
SCN10A | ------GSLETNNFRRFTPESLVEIEKQIA>A<KQGT-KKARE-KHRE-QKDQE--EKPRPQL | 55 |
SCN11A | ------IFPDERNFRPFTSDSLAAIEKRIA>I<Q-KEKKKSK-----D-QTGEV--PQPRPQL | 54 |
CACNA1A | PARYGG------------GGSGAAAGV--->-<---------VVGSG-GGRGAG--GSRQGGQ | 41 |
CACNA1B | GGRYGG------------PGGGERA----->-<-----------RGG-GAGGAG--GPGPGGL | 37 |
CACNA1C | GSNYGS------------PR-PAHANMN-->-<-----A-NAAAGLA----PEH--IPTPGAA | 49 |
CACNA1D | RQQQAD--------H--ANE-ANYARGT-->-<-----R-LPLSGEG----PTSQPNSSKQTV | 50 |
CACNA1E | 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 | 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.E30G | c.89A>G | Inherited Arrhythmia | LQTS | rs199473551 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 |