No paralogue variants have been mapped to residue 648 for SCN5A.
| SCN5A | --VMLEHPP--DTTTPSEEPGGPQMLTSQA>P<CVD-GFEEPGARQR-A-LSAVSVLTSA--- | 672 |
| SCN1A | --VIIDKPATDDNGTTTETEMRKRRSSSFH>V<SMD-FLEDPSQRQR-A-MSIASILTNT--- | 723 |
| SCN2A | -------------GTTTETEIRKRRSSSYH>V<SMD-LLEDPTSRQR-A-MSIASILTNT--- | 714 |
| SCN3A | -------------GTTTETEVRKRRLSSYQ>I<SME-MLEDSSGRQR-A-VSIASILTNT--- | 715 |
| SCN4A | ------------------------------>-<----E---KGAPRQ-S-SSGDSGISDA--- | 533 |
| SCN7A | ---------------TIQIEMKKRSPISTD>T<SLD-VLEDATLRHK---------------- | 461 |
| SCN8A | -------------A-TTEVEIKKKGPGSLL>V<SMD-QLASYGRKDR-I-NSIMSVVTNTL-- | 708 |
| SCN9A | --G-----------TTNQIH-KKRRCSSYL>L<SED-MLNDPNLRQR-A-MSRASILTNT--- | 688 |
| SCN10A | -----------GAVDVSAFD---AGQKKTF>L<SAE-YLDEPFRAQR-A-MSVVSIITSV--- | 620 |
| SCN11A | ---------------------KRLSQNLSL>D<HFD-EHGDPLQRQR-A-LSAVSILTIT--- | 532 |
| CACNA1A | --------------D----------LLNPE>E<AED-QLA----DIA-S-VG----------- | 450 |
| CACNA1B | --------------D----------LIHAE>E<GED-RFA----DLC-A-VG----------- | 446 |
| CACNA1C | --------------E----------SVNTE>N<VAG-G-D----IEGEN-CG----------- | 490 |
| CACNA1D | --------------E----------SVNTE>N<VSG-EGE----NRG-C-CGSLWCWWR---- | 497 |
| CACNA1E | --------------E----------AMTRD>S<SDE-HCV----DIS-S-VG----------- | 439 |
| CACNA1F | --------------T----------RS-TH>S<TSSHASL----P-A-SDTGSMTETQG---- | 483 |
| CACNA1G | ---SC--KISSPCLK----------ADSGA>C<GPD-SCP----YCA-R-AG-----AG---- | 676 |
| CACNA1H | SGLSV--PCPLPSPP----------AGTLT>C<ELK-SCP----YCT-R-AL-----ED-P-- | 710 |
| CACNA1I | ------------------------------>-<DPA-SCP----CCQ-H-ED-----GR-RPS | 565 |
| CACNA1S | --------------E----------SLY-E>I<------------------------------ | 401 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P648L | c.1943C>T | Conflict | rs45609733 | SIFT: tolerated Polyphen: benign | |
| Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
| Inherited Arrhythmia | LQTS | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| 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 | |||
| Cardiomyopathy | DCM | Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin Transl Sci. 2008 1(1):21-6. 19412328 | |||
| Other Disease Phenotype | Loss-of-function of the voltage-gated sodium channel NaV1.5 (channelopathies) in patients with irritable bowel syndrome. Gastroenterology. 2014 146(7):1659-68. doi: 10.1053/j.gastro.2014.02.054. 24613995 | ||||