No paralogue variants have been mapped to residue 1023 for SCN5A.
SCN5A | ----QGQLPSCIATPYSPPP-PETEKVPPT>R<KETRFEEG--EQPGQG-------------- | 1037 |
SCN1A | LDDLNNKKDSCMSNHT--------AEIGKD>L<DYLKDVNG--TTSGIG-------------- | 1087 |
SCN2A | LEDLNNKKDSCISNHT-------TIEIGKD>L<NYLKDGNG--TTSGI--------------- | 1078 |
SCN3A | ----GNKIDSCMSNNT-------GIEISKE>L<NYLRDGNG--TTSGVG-------------- | 1075 |
SCN4A | ADGAGEAGEAGETAPE-------DEKKEPP>E<EDLKKDNH--ILNHMG-------------- | 898 |
SCN7A | VNEVYVKED--ISDHTL-------SELSNT>Q<DFLKDKEK--S-S----------------- | 812 |
SCN8A | LDELYEKKANCIANHT-------GADIHRN>G<DFQKNGNG--TTSGI--------------- | 1070 |
SCN9A | AEDLNTKKENYISNHT-------LAEMSKG>H<NFLKEKD---KISGF--------------- | 1051 |
SCN10A | LPLSSSKAENHIAANT-------------->-<-----ARG--SSGGLQ-------------- | 975 |
SCN11A | ----KEVAGGCAAQ---------SKDIIPL>V<MEMKRGSE--TQEELG-------------- | 898 |
CACNA1A | EMDPDERWKAAYTR-HLRPDMKTHLDRPLV>V<DPQENRN-NNTNKSRAAEPTVDQRLGQQ-R | 854 |
CACNA1B | EMDPEERLRFATTR-HLRPDMKTHLDRPLV>V<ELGRDGA-RGPVGGKARPEAAEAPEGVD-P | 848 |
CACNA1C | ------------------------------>-<----------------------------EK | 786 |
CACNA1D | ------------------------------>-<----------------------------EN | 805 |
CACNA1E | EEAPTMNPLNPLNP-LSSL-------NPLN>A<HPSLYRR-PRAIEGLAL-----GLALEKFE | 846 |
CACNA1F | ------------------------------>-<----------------------------V- | 790 |
CACNA1G | LLPPLIIHTAATPM-SLPKSTSTGLGEALG>P<ASRRTS-SSGSAEPGA-------------- | 1079 |
CACNA1H | LSPPLIMCTAATPM-PTPKS-SPFLDAAPS>L<PDSRRGSSSS-GDP-P-------------- | 1114 |
CACNA1I | LGGHLGPAGAAGPA-P--RL-SLQPDPMLV>A<LGSRKSSVMS-LGR-M-------------- | 960 |
CACNA1S | ------------------------------>-<----------------------------EE | 697 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1023H | c.3068G>A | Inherited Arrhythmia | BrS | rs199473592 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | BrS | Cardiac histological substrate in patients with clinical phenotype of Brugada syndrome. Circulation. 2005 112(24):3680-7. 16344400 | ||
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.R1023C | c.3067C>T | Other Cardiac Phenotype | SIFT: Polyphen: | ||
Reports | Other Cardiac Phenotype | SCN5A mutation associated with ventricular fibrillation, early repolarization, and concealed myocardial abnormalities. Int J Cardiol. 2013 165(2):e21-3. doi: 10.1016/j.ijcard.2012.10.074. 23168001 | |||
p.R1023P | c.3068G>C | Putative Benign | SIFT: Polyphen: |