No paralogue variants have been mapped to residue 620 for SCN5A.
SCN5A | DCNGVVSLLG-AGD----PEAT-SPGSHLL>R<P-------------VMLEHPP--DTTTPSE | 635 |
SCN1A | DCNGVVSLVG-G-P----SVPT-SPVGQLL>P<E-------------VIIDKPATDDNGTTTE | 686 |
SCN2A | DCNGVVSLVG-G-P----STLT-SA-GQLL>P<E------------------------GTTTE | 677 |
SCN3A | DCNGVVSLVG-G-P----SALT-SPTGQLP>P<E------------------------GTTTE | 678 |
SCN4A | DCNGSLDTSQ-G------------------>-<------------------------------ | 515 |
SCN7A | ------------------------------>-<---------------------------TIQ | 435 |
SCN8A | DCNGVVSLIG-G-P----GSHI---GGRLL>P<E------------------------A-TTE | 670 |
SCN9A | DCNGVVSLVD-G-R----SALM-LPNGQLL>P<E-------------G-----------TTNQ | 652 |
SCN10A | -------SRH-G-E----DEHQPPPT-SEL>A<P----------------------GAVDVSA | 586 |
SCN11A | DCQKKPQLLE-Q------------------>T<------------------------------ | 498 |
CACNA1A | ------------------------------>-<--------------------------D--- | 432 |
CACNA1B | ------------------------------>-<--------------------------D--- | 428 |
CACNA1C | ------------------------------>-<--------------------------E--- | 472 |
CACNA1D | ------------------------------>-<--------------------------E--- | 472 |
CACNA1E | ------------------------------>-<--------------------------E--- | 421 |
CACNA1F | ------------------------------>-<--------------------------T--- | 458 |
CACNA1G | ASSGPPTLTSL-NI----PPGPY-SSMHKL>L<ETQSTGACQS-----SC--KISSPCLK--- | 656 |
CACNA1H | KWAGGPPGTGGHGPLSLNSPDPY-EKIPHV>V<GEHGLGQAPGHLSGLSV--PCPLPSPP--- | 689 |
CACNA1I | TLAS-------------------------->-<------------------------------ | 548 |
CACNA1S | ------------------------------>-<--------------------------E--- | 396 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R620C | c.1858C>T | Inherited Arrhythmia | BrS | rs199473577 | SIFT: deleterious Polyphen: possibly damaging |
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.R620H | c.1859G>A | Putative Benign | SIFT: Polyphen: |