No paralogue variants have been mapped to residue 70 for SCN5A.
| SCN5A | RE-GLPEE--EAPRPQLDLQASKKLPDLYG>N<PPQELIGEPLEDLDPFYSTQK-TFI-VLNK | 98 |
| SCN1A | -K-KDDDE--NGPKPNSDLEAGKNLPFIYG>D<IPPEMVSEPLEDLDPYYINKK-TFI-VLNK | 95 |
| SCN2A | -RKDEDDE--NGPKPNSDLEAGKSLPFIYG>D<IPPEMVSVPLEDLDPYYINKK-TFI-VLNK | 96 |
| SCN3A | -Q-DNDDE--NKPKPNSDLEAGKNLPFIYG>D<IPPEMVSEPLEDLDPYYINKK-TFI-VMNK | 95 |
| SCN4A | -Q-MEIEE--PERKPRSDLEAGKNLPMIYG>D<PPPEVIGIPLEDLDPYYSNKK-TFI-VLNK | 98 |
| SCN7A | -N-EDHEE--EDLKPTPDLEVGKKLPFIYG>N<LSQGMVSEPLEDVDPYYYKKKNTFI-VLNK | 85 |
| SCN8A | HR-EDDED--SKPKPNSDLEAGKSLPFIYG>D<IPQGLVAVPLEDFDPYYLTQK-TFV-VLNR | 99 |
| SCN9A | -K-KDDDE--EAPKPSSDLEAGKQLPFIYG>D<IPPGMVSEPLEDLDPYYADKK-TFI-VLNK | 93 |
| SCN10A | RE-QKDQE--EKPRPQLDLKACNQLPKFYG>E<LPAELIGEPLEDLDPFYSTHR-TFM-VLNK | 97 |
| SCN11A | -D-QTGEV--PQPRPQLDLKASRKLPKLYG>D<IPRELIGKPLEDLDPFYRNHK-TFM-VLNR | 96 |
| CACNA1A | G-GGRGAG--GSRQGGQ--------PGA-->-<--------QRMYKQSMAQRARTMAL-YNPI | 65 |
| CACNA1B | G-GAGGAG--GPGPGGLQ-------PGQ-->-<--------RVLYKQSIAQRARTMAL-YNPI | 62 |
| CACNA1C | A----PEH--IPTPGAALSWQAAIDAARQA>K<LMGSAGNATISTVSST-QRKRQQYG-KPKK | 91 |
| CACNA1D | G----PTSQPNSSKQTVLSWQAAIDAARQA>K<AAQTMSTSAPPPVGSLSQRKRQQYA-KSKK | 93 |
| CACNA1E | Q-SRNRQG--TPVPA----------SGQ-->-<--------AAAYKQTKAQRARTMAL-YNPI | 56 |
| CACNA1F | G----PEWGLCPGP----P-------AV-->-<-----EGESSGASGLGTPKRRNQHS-KHKT | 59 |
| CACNA1G | -----LSG--AGGRP-----------G--->-<-------PGSA-------EKDPG-SADSEA | 48 |
| CACNA1H | -----ELG--VSPSE-----------S--->-<-------P-AA-------ERGAELG-ADEE | 67 |
| CACNA1I | E----QPG--P--RS--P-------PS--->-<-------SPPG-------LEEPL-D-G-AD | 46 |
| CACNA1S | ------------------------------>-<--------------SSPQDEGLRKK-QPKK | 18 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.N70K | c.210T>G | Inherited Arrhythmia | BrS | rs199473050 | SIFT: deleterious Polyphen: benign |
| Reports | Inherited Arrhythmia | BrS | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 | ||
| Inherited Arrhythmia | BrS | Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations. Circ Cardiovasc Genet. 2014 7(2):123-31. doi: 10.1161/CIRCGENETICS.113.000292. 24573164 | |||
| p.N70S | c.209A>G | Putative Benign | rs368357262 | SIFT: deleterious Polyphen: probably damaging | |