No paralogue variants have been mapped to residue 640 for SCN5A.
| SCN5A | ----------VMLEHPP--DTTTPSEEPGG>P<QMLTSQAPCVD-GFEEPGARQR-A-LSAVS | 667 |
| SCN1A | ----------VIIDKPATDDNGTTTETEMR>K<RRSSSFHVSMD-FLEDPSQRQR-A-MSIAS | 718 |
| SCN2A | ---------------------GTTTETEIR>K<RRSSSYHVSMD-LLEDPTSRQR-A-MSIAS | 709 |
| SCN3A | ---------------------GTTTETEVR>K<RRLSSYQISME-MLEDSSGRQR-A-VSIAS | 710 |
| SCN4A | ------------------------------>-<------------E---KGAPRQ-S-SSGDS | 528 |
| SCN7A | -----------------------TIQIEMK>K<RSPISTDTSLD-VLEDATLRHK-------- | 461 |
| SCN8A | ---------------------A-TTEVEIK>K<KGPGSLLVSMD-QLASYGRKDR-I-NSIMS | 702 |
| SCN9A | ----------G-----------TTNQIH-K>K<RRCSSYLLSED-MLNDPNLRQR-A-MSRAS | 683 |
| SCN10A | -------------------GAVDVSAFD-->-<AGQKKTFLSAE-YLDEPFRAQR-A-MSVVS | 615 |
| SCN11A | -----------------------------K>R<LSQNLSLDHFD-EHGDPLQRQR-A-LSAVS | 527 |
| CACNA1A | ----------------------D------->-<--LLNPEEAED-QLA----DIA-S-VG--- | 450 |
| CACNA1B | ----------------------D------->-<--LIHAEEGED-RFA----DLC-A-VG--- | 446 |
| CACNA1C | ----------------------E------->-<--SVNTENVAG-G-D----IEGEN-CG--- | 490 |
| CACNA1D | ----------------------E------->-<--SVNTENVSG-EGE----NRG-C-CGSLW | 493 |
| CACNA1E | ----------------------E------->-<--AMTRDSSDE-HCV----DIS-S-VG--- | 439 |
| CACNA1F | ----------------------T------->-<--RS-THSTSSHASL----P-A-SDTGSMT | 479 |
| CACNA1G | TGACQS-----SC--KISSPCLK------->-<--ADSGACGPD-SCP----YCA-R-AG--- | 674 |
| CACNA1H | LGQAPGHLSGLSV--PCPLPSPP------->-<--AGTLTCELK-SCP----YCT-R-AL--- | 707 |
| CACNA1I | ------------------------------>-<--------DPA-SCP----CCQ-H-ED--- | 560 |
| CACNA1S | ----------------------E------->-<--SLY-EI---------------------- | 401 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P640A | c.1918C>G | Inherited Arrhythmia | BrS | rs199473137 | 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 | ||
| p.P640S | c.1918C>T | Putative Benign | SIFT: Polyphen: | ||