No paralogue variants have been mapped to residue 289 for SCN5A.
| SCN5A | R--------------------NFTALN--->G<-TN-------------GS---------VEA | 296 |
| SCN1A | Q-WP-PTNASLEEH-SI-EKNITVNYN--->G<-TL-------------IN---------ETV | 309 |
| SCN2A | Q-WP-PDNSSFEIN-ITSFFNNSLDGN--->G<-TT-------------FN---------RTV | 311 |
| SCN3A | Q-WP-PSDSAFETN-TTSYFNGTMDSN--->G<-TF-------------VN---------VTM | 310 |
| SCN4A | R-WP-PPFN--DTN-TTWYSNDTWYGN--->D<-TWYGNEMWYGNDSWYANDTWNSHASWATN | 333 |
| SCN7A | R-WP-QENE-----------------N--->E<-TLH-------------N---------RTG | 284 |
| SCN8A | V-WP-------------------INFN--->E<-SY-------------LE---------NGT | 297 |
| SCN9A | R-NS-------------------LENN--->E<-TL-------------ES---------IMN | 291 |
| SCN10A | K-N-------------------DMAVN--->E<-TTN-------------------------- | 288 |
| SCN11A | S-R-------------------DCK-N--->I<-SN--------------------------- | 293 |
| CACNA1A | E-E-GTD------------DI-----Q--->G<------------------------------ | 266 |
| CACNA1B | P-N-STD------------A------E--->P<------------------------------ | 262 |
| CACNA1C | NQEGIAD-------------V----PA--->E<------------------------------ | 310 |
| CACNA1D | F-A-DSD-------------I----VA--->E<------------------------------ | 311 |
| CACNA1E | M-N-NSG------------IL----EG--->F<------------------------------ | 262 |
| CACNA1F | F-L-GSD-------------M----EA--->E<------------------------------ | 277 |
| CACNA1G | L-P-ENFSLPLSVD-LE-RYYQT-ENE--->D<ESPFICSQPRENG-------MRSCRSVPTL | 288 |
| CACNA1H | L-D-SAFVRNNNLTFLR-PYYQT-EEG--->E<ENPFICSSRRDNG-------MQKCSHIPGR | 308 |
| CACNA1I | L-E-ENFTIQGDVA-LP-PYYQP-EED--->D<EMPFICSLSGDNG-------IMGCHEIPPL | 286 |
| CACNA1S | F-I-GTD-------------I----VATVE>N<------------------------------ | 239 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.G289S | c.865G>A | Inherited Arrhythmia | LQTS | rs199473084 | SIFT: tolerated Polyphen: benign |
| Reports | 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 | ||
| Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||