No paralogue variants have been mapped to residue 647 for SCN5A.
| SCN5A | ---VMLEHPP--DTTTPSEEPGGPQMLTSQ>A<PCVD-GFEEPGARQR-A-LSAVSVLTSA-- | 672 |
| SCN1A | ---VIIDKPATDDNGTTTETEMRKRRSSSF>H<VSMD-FLEDPSQRQR-A-MSIASILTNT-- | 723 |
| SCN2A | --------------GTTTETEIRKRRSSSY>H<VSMD-LLEDPTSRQR-A-MSIASILTNT-- | 714 |
| SCN3A | --------------GTTTETEVRKRRLSSY>Q<ISME-MLEDSSGRQR-A-VSIASILTNT-- | 715 |
| SCN4A | ------------------------------>-<-----E---KGAPRQ-S-SSGDSGISDA-- | 533 |
| SCN7A | ----------------TIQIEMKKRSPIST>D<TSLD-VLEDATLRHK--------------- | 461 |
| SCN8A | --------------A-TTEVEIKKKGPGSL>L<VSMD-QLASYGRKDR-I-NSIMSVVTNTL- | 708 |
| SCN9A | ---G-----------TTNQIH-KKRRCSSY>L<LSED-MLNDPNLRQR-A-MSRASILTNT-- | 688 |
| SCN10A | ------------GAVDVSAFD---AGQKKT>F<LSAE-YLDEPFRAQR-A-MSVVSIITSV-- | 620 |
| SCN11A | ----------------------KRLSQNLS>L<DHFD-EHGDPLQRQR-A-LSAVSILTIT-- | 532 |
| CACNA1A | ---------------D----------LLNP>E<EAED-QLA----DIA-S-VG---------- | 450 |
| CACNA1B | ---------------D----------LIHA>E<EGED-RFA----DLC-A-VG---------- | 446 |
| CACNA1C | ---------------E----------SVNT>E<NVAG-G-D----IEGEN-CG---------- | 490 |
| CACNA1D | ---------------E----------SVNT>E<NVSG-EGE----NRG-C-CGSLWCWWR--- | 497 |
| CACNA1E | ---------------E----------AMTR>D<SSDE-HCV----DIS-S-VG---------- | 439 |
| CACNA1F | ---------------T----------RS-T>H<STSSHASL----P-A-SDTGSMTETQG--- | 483 |
| CACNA1G | ----SC--KISSPCLK----------ADSG>A<CGPD-SCP----YCA-R-AG-----AG--- | 676 |
| CACNA1H | LSGLSV--PCPLPSPP----------AGTL>T<CELK-SCP----YCT-R-AL-----ED-P- | 710 |
| CACNA1I | ------------------------------>-<-DPA-SCP----CCQ-H-ED-----GR-RP | 564 |
| CACNA1S | ---------------E----------SLY->E<I----------------------------- | 401 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A647D | c.1940C>A | Inherited Arrhythmia | BrS | rs185638763 | SIFT: tolerated 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 | |||
| Inherited Arrhythmia | BrS | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 | |||
| p.A647V | c.1940C>T | Putative Benign | rs185638763 | SIFT: tolerated Polyphen: benign | |
| p.A647S | c.1939G>T | Putative Benign | SIFT: Polyphen: | ||