No paralogue variants have been mapped to residue 997 for SCN5A.
| SCN5A | FCC-----------GLLRQ-RPQKPAALA->A<----QGQLPSCIATPYSPPP-PETEKVPPT | 1022 |
| SCN1A | FIQ-----------QSFIR-KQKILDEIK->P<LDDLNNKKDSCMSNHT--------AEIGKD | 1072 |
| SCN2A | FIQ-----------KAFVR-KQKALDEIK->P<LEDLNNKKDSCISNHT-------TIEIGKD | 1064 |
| SCN3A | CFQ-----------KAFFR-KPKVI-EIH->E<----GNKIDSCMSNNT-------GIEISKE | 1060 |
| SCN4A | LLH-----------GKILS-PKDIMLSLG->E<ADGAGEAGEAGETAPE-------DEKKEPP | 883 |
| SCN7A | KTQ-----------NVP-------KDTMD->H<VNEVYVKED--ISDHTL-------SELSNT | 801 |
| SCN8A | FMQ-----------AHFKQ-R--EADEVK->P<LDELYEKKANCIANHT-------GADIHRN | 1056 |
| SCN9A | FIL-----------KAFSK-KPKISREIR->Q<AEDLNTKKENYISNHT-------LAEMSKG | 1038 |
| SCN10A | FFS-----------RSCPFPQPKAEPELVV>K<LPLSSSKAENHIAANT-------------- | 966 |
| SCN11A | FCH-----------KWCRK-Q-NLPQQ--->-<----KEVAGGCAAQ---------SKDIIPL | 883 |
| CACNA1A | QRTSEM--RKQNLLASREA-L-------Y->N<EMDPDERWKAAYTR-HLRPDMKTHLDRPLV | 825 |
| CACNA1B | QRASQL--RLQNLRASCEA-L-------Y->S<EMDPEERLRFATTR-HLRPDMKTHLDRPLV | 819 |
| CACNA1C | ------------------------------>-<------------------------------ | |
| CACNA1D | ------------------------------>-<------------------------------ | |
| CACNA1E | QRTSQL--RKHMQMSSQEA-L-------N->R<EEAPTMNPLNPLNP-LSSL-------NPLN | 821 |
| CACNA1F | ------------------------------>-<------------------------------ | |
| CACNA1G | DGDRKKCLALVSLGEHPEL-R-------K->S<LLPPLIIHTAATPM-SLPKSTSTGLGEALG | 1063 |
| CACNA1H | TTELKMCSLAVTPNGHLEG-R-------G->S<LSPPLIMCTAATPM-PTPKS-SPFLDAAPS | 1099 |
| CACNA1I | SGDPKLCPIPMTPNGHLDP-S-------L->P<LGGHLGPAGAAGPA-P--RL-SLQPDPMLV | 945 |
| CACNA1S | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A997S | c.2989G>T | Inherited Arrhythmia | LQTS | rs137854609 | SIFT: tolerated Polyphen: benign |
| Reports | Other Cardiac Phenotype | Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA. 2001 286(18):2264-9. 11710892 | |||
| Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | |||
| p.A997T | c.2989G>A | Inherited Arrhythmia | BrS | rs137854609 | 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 | ||
| 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 | ||||
| p.A997D | c.2990C>A | Other Cardiac Phenotype | SIFT: Polyphen: | ||
| Reports | Other Cardiac Phenotype | Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775 | |||