No paralogue variants have been mapped to residue 69 for SCN5A.
| SCN5A | SRE-GLPEE--EAPRPQLDLQASKKLPDLY>G<NPPQELIGEPLEDLDPFYSTQK-TFI-VLN | 97 |
| SCN1A | --K-KDDDE--NGPKPNSDLEAGKNLPFIY>G<DIPPEMVSEPLEDLDPYYINKK-TFI-VLN | 94 |
| SCN2A | --RKDEDDE--NGPKPNSDLEAGKSLPFIY>G<DIPPEMVSVPLEDLDPYYINKK-TFI-VLN | 95 |
| SCN3A | --Q-DNDDE--NKPKPNSDLEAGKNLPFIY>G<DIPPEMVSEPLEDLDPYYINKK-TFI-VMN | 94 |
| SCN4A | --Q-MEIEE--PERKPRSDLEAGKNLPMIY>G<DPPPEVIGIPLEDLDPYYSNKK-TFI-VLN | 97 |
| SCN7A | --N-EDHEE--EDLKPTPDLEVGKKLPFIY>G<NLSQGMVSEPLEDVDPYYYKKKNTFI-VLN | 84 |
| SCN8A | SHR-EDDED--SKPKPNSDLEAGKSLPFIY>G<DIPQGLVAVPLEDFDPYYLTQK-TFV-VLN | 98 |
| SCN9A | --K-KDDDE--EAPKPSSDLEAGKQLPFIY>G<DIPPGMVSEPLEDLDPYYADKK-TFI-VLN | 92 |
| SCN10A | HRE-QKDQE--EKPRPQLDLKACNQLPKFY>G<ELPAELIGEPLEDLDPFYSTHR-TFM-VLN | 96 |
| SCN11A | --D-QTGEV--PQPRPQLDLKASRKLPKLY>G<DIPRELIGKPLEDLDPFYRNHK-TFM-VLN | 95 |
| CACNA1A | SG-GGRGAG--GSRQGGQ--------PGA->-<---------QRMYKQSMAQRARTMAL-YNP | 64 |
| CACNA1B | GG-GAGGAG--GPGPGGLQ-------PGQ->-<---------RVLYKQSIAQRARTMAL-YNP | 61 |
| CACNA1C | LA----PEH--IPTPGAALSWQAAIDAARQ>A<KLMGSAGNATISTVSST-QRKRQQYG-KPK | 90 |
| CACNA1D | EG----PTSQPNSSKQTVLSWQAAIDAARQ>A<KAAQTMSTSAPPPVGSLSQRKRQQYA-KSK | 92 |
| CACNA1E | -Q-SRNRQG--TPVPA----------SGQ->-<---------AAAYKQTKAQRARTMAL-YNP | 55 |
| CACNA1F | PG----PEWGLCPGP----P-------AV->-<------EGESSGASGLGTPKRRNQHS-KHK | 58 |
| CACNA1G | ------LSG--AGGRP-----------G-->-<--------PGSA-------EKDPG-SADSE | 47 |
| CACNA1H | ------ELG--VSPSE-----------S-->-<--------P-AA-------ERGAELG-ADE | 66 |
| CACNA1I | TE----QPG--P--RS--P-------PS-->-<--------SPPG-------LEEPL-D-G-A | 45 |
| CACNA1S | ------------------------------>-<---------------SSPQDEGLRKK-QPK | 17 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G69D | c.206G>A | Putative Benign | SIFT: Polyphen: |