No paralogue variants have been mapped to residue 974 for SCN5A.
SCN5A | LTAP-DEDREM-NNLQL-ALARIQRGLRFV>K<------------------------------ | 974 |
SCN1A | LAAT-DDDNEM-NNLQI-AVDRMHKGVAYV>K<------------------------------ | 1027 |
SCN2A | LAAT-DDDNEM-NNLQI-AVGRMQKGIDFV>K<------------------------------ | 1018 |
SCN3A | LAAT-DDDNEM-NNLQI-AVGRMQKGIDYV>K<------------------------------ | 1019 |
SCN4A | LAAS-DEDGEM-NNLQI-AIGRIKLGIGFA>K<------------------------------ | 837 |
SCN7A | DVTA-EENNEA-KNLQL-AVARIKKGINYV>L<------------------------------ | 763 |
SCN8A | LAAT-DDDGEM-NNLQI-SVIRIKKGVAWT>K<------------------------------ | 1012 |
SCN9A | LTAI-EEDPDA-NNLQI-AVTRIKKGINYV>K<------------------------------ | 992 |
SCN10A | LTAP-EDDGEV-NNLQV-ALARIQV---FG>H<------------------------------ | 922 |
SCN11A | RNGNLEGEARK-TKVQL-ALDRFRRAFCFV>R<------------------------------ | 847 |
CACNA1A | LTKDEQEEEEA-ANQKL-ALQKAKEVAEVS>P<LSAANMS--------------IAVKEQQKN | 767 |
CACNA1B | LTKDEEEMEEA-ANQKL-ALQKAKEVAEVS>P<MSAANIS--------------IAA--RQQN | 761 |
CACNA1C | LTSAQKEEEEE-KERKK-LART---AS--->-<-----------------------------P | 784 |
CACNA1D | LNTAQKEEAEE-KERKK-IARK---ES--->-<-----------------------------L | 803 |
CACNA1E | LTKDEQEEEEA-FNQKH-ALQKAKEVSPMS>A<PNMPSIERDRRRRHHMSMWEPRSSHLRERR | 770 |
CACNA1F | -GTAKDKGGEK-SNEKDLPQEN---EG--->-<-----------------------------L | 789 |
CACNA1G | ISKREDASGQL-SCIQL-PVDSQGGDANKS>-<-----------ESE---------------P | 1003 |
CACNA1H | DANRSDTDEDKTSVHFEEDFHKL------->-<------------------------------ | 1045 |
CACNA1I | AN-RSYSDEDQSSSNIE-EFDKLQE----->-<------------------------------ | 893 |
CACNA1S | LTSAQKAKAEE-KKRRK-MSKGLPDKS--->-<-----------------------------E | 695 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K974N | c.2922G>T | Inherited Arrhythmia | BrS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | BrS | Genetic diversity of SCN5A gene and its possible association with the concealed form of Brugada syndrome development in Polish group of patients. Biomed Res Int. 2014 2014:462609. doi: 10.1155/2014/462609. 25401102 |