No paralogue variants have been mapped to residue 65 for SCN5A.
SCN5A | TLQESRE-GLPEE--EAPRPQLDLQASKKL>P<DLYGNPPQELIGEPLEDLDPFYSTQK-TFI | 94 |
SCN1A | PD----K-KDDDE--NGPKPNSDLEAGKNL>P<FIYGDIPPEMVSEPLEDLDPYYINKK-TFI | 91 |
SCN2A | QE----RKDEDDE--NGPKPNSDLEAGKSL>P<FIYGDIPPEMVSVPLEDLDPYYINKK-TFI | 92 |
SCN3A | KE----Q-DNDDE--NKPKPNSDLEAGKNL>P<FIYGDIPPEMVSEPLEDLDPYYINKK-TFI | 91 |
SCN4A | NK----Q-MEIEE--PERKPRSDLEAGKNL>P<MIYGDPPPEVIGIPLEDLDPYYSNKK-TFI | 94 |
SCN7A | -H----N-EDHEE--EDLKPTPDLEVGKKL>P<FIYGNLSQGMVSEPLEDVDPYYYKKKNTFI | 81 |
SCN8A | KADGSHR-EDDED--SKPKPNSDLEAGKSL>P<FIYGDIPQGLVAVPLEDFDPYYLTQK-TFV | 95 |
SCN9A | EE----K-KDDDE--EAPKPSSDLEAGKQL>P<FIYGDIPPGMVSEPLEDLDPYYADKK-TFI | 89 |
SCN10A | RE-KHRE-QKDQE--EKPRPQLDLKACNQL>P<KFYGELPAELIGEPLEDLDPFYSTHR-TFM | 93 |
SCN11A | K-----D-QTGEV--PQPRPQLDLKASRKL>P<KLYGDIPRELIGKPLEDLDPFYRNHK-TFM | 92 |
CACNA1A | -VVGSG-GGRGAG--GSRQGGQ-------->P<GA-----------QRMYKQSMAQRARTMAL | 61 |
CACNA1B | ---RGG-GAGGAG--GPGPGGLQ------->P<GQ-----------RVLYKQSIAQRARTMAL | 58 |
CACNA1C | AAAGLA----PEH--IPTPGAALSWQAAID>A<ARQAKLMGSAGNATISTVSST-QRKRQQYG | 87 |
CACNA1D | PLSGEG----PTSQPNSSKQTVLSWQAAID>A<ARQAKAAQTMSTSAPPPVGSLSQRKRQQYA | 89 |
CACNA1E | --SD-Q-SRNRQG--TPVPA---------->S<GQ-----------AAAYKQTKAQRARTMAL | 52 |
CACNA1F | -GAGPG----PEWGLCPGP----P------>-<AV--------EGESSGASGLGTPKRRNQHS | 55 |
CACNA1G | RLND------LSG--AGGRP---------->-<G-----------PGSA-------EKDPG-S | 43 |
CACNA1H | ERGS------ELG--VSPSE---------->-<S-----------P-AA-------ERGAELG | 63 |
CACNA1I | PGVTTE----QPG--P--RS--P------->P<S-----------SPPG-------LEEPL-D | 43 |
CACNA1S | ------------------------------>-<-------------------SSPQDEGLRKK | 14 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P65L | c.194C>T | Putative Benign | SIFT: deleterious Polyphen: probably damaging |