No paralogue variants have been mapped to residue 291 for SCN5A.
| SCN5A | ------------------NFTALN---G-T>N<-------------GS---------VEADGL | 299 |
| SCN1A | P-PTNASLEEH-SI-EKNITVNYN---G-T>L<-------------IN---------ETVFEF | 312 |
| SCN2A | P-PDNSSFEIN-ITSFFNNSLDGN---G-T>T<-------------FN---------RTVSIF | 314 |
| SCN3A | P-PSDSAFETN-TTSYFNGTMDSN---G-T>F<-------------VN---------VTMSTF | 313 |
| SCN4A | P-PPFN--DTN-TTWYSNDTWYGN---D-T>W<YGNEMWYGNDSWYANDTWNSHASWATNDTF | 336 |
| SCN7A | P-QENE-----------------N---E-T>L<H-------------N---------RTG--- | 284 |
| SCN8A | P-------------------INFN---E-S>Y<-------------LE---------NGTKGF | 300 |
| SCN9A | S-------------------LENN---E-T>L<-------------ES---------IMNTLE | 294 |
| SCN10A | -------------------DMAVN---E-T>T<N---------------------------Y- | 289 |
| SCN11A | -------------------DCK-N---I-S>N<------------------------------ | 293 |
| CACNA1A | -GTD------------DI-----Q---G-->-<------------------------------ | 266 |
| CACNA1B | -STD------------A------E---P-->-<------------------------------ | 262 |
| CACNA1C | GIAD-------------V----PA---E-->-<------------------------------ | 310 |
| CACNA1D | -DSD-------------I----VA---E-->-<------------------------------ | 311 |
| CACNA1E | -NSG------------IL----EG---F-->-<------------------------------ | 262 |
| CACNA1F | -GSD-------------M----EA---E-->-<------------------------------ | 277 |
| CACNA1G | -ENFSLPLSVD-LE-RYYQT-ENE---DES>P<FICSQPRENG-------MRSCRSVPTLRGD | 291 |
| CACNA1H | -SAFVRNNNLTFLR-PYYQT-EEG---EEN>P<FICSSRRDNG-------MQKCSHIPGRRE- | 310 |
| CACNA1I | -ENFTIQGDVA-LP-PYYQP-EED---DEM>P<FICSLSGDNG-------IMGCHEIPPLKE- | 288 |
| CACNA1S | -GTD-------------I----VATVEN-->-<------------------------------ | 239 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.N291H | c.871A>C | Other Cardiac Phenotype | rs36210420 | SIFT: tolerated Polyphen: possibly damaging | |
| Reports | Other Cardiac Phenotype | Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes. Am Heart J. 2006 152(6):1116-22. 17161064 | |||
| p.N291S | c.872A>G | Putative Benign | rs199473563 | SIFT: tolerated Polyphen: benign | |
| Reports | Putative Benign | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||
| Putative Benign | 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 | ||||