No paralogue variants have been mapped to residue 370 for SCN5A.
| SCN5A | RCLKAGENPDHGYTSFDSFAWAFLALFRLM>T<QDCWERLYQQTLRSAGKIY-MIFFMLVIFL | 399 |
| SCN1A | MCVKAGRNPNYGYTSFDTFSWAFLSLFRLM>T<QDFWENLYQLTLRAAGKTY-MIFFVLVIFL | 409 |
| SCN2A | ICVKAGRNPNYGYTSFDTFSWAFLSLFRLM>T<QDFWENLYQLTLRAAGKTY-MIFFVLVIFL | 411 |
| SCN3A | ICVKAGRNPNYGYTSFDTFSWAFLSLFRLM>T<QDYWENLYQLTLRAAGKTY-MIFFVLVIFL | 410 |
| SCN4A | ECIKTGRNPNYGYTSYDTFSWAFLALFRLM>T<QDYWENLFQLTLRAAGKTY-MIFFVVIIFL | 433 |
| SCN7A | VCVKAGINPDQGFTNFDSFGWALFALFRLM>A<QDYPEVLYHQILYASGKVY-MIFFVVVSFL | 380 |
| SCN8A | QCMKAGRNPNYGYTSFDTFSWAFLALFRLM>T<QDYWENLYQLTLRAAGKTY-MIFFVLVIFV | 397 |
| SCN9A | TCVKIGRNPDYGYTSFDTFSWAFLALFRLM>T<QDYWENLYQQTLRAAGKTY-MIFFVVVIFL | 388 |
| SCN10A | ICLKTSDNPDFNYTSFDSFAWAFLSLFRLM>T<QDSWERLYQQTLRTSGKIY-MIFFVLVIFL | 383 |
| SCN11A | ECKHTKINPDYNYTNFDNFGWSFLAMFRLM>T<QDSWEKLYQQTLRTTGLYS-VFFFIVVIFL | 386 |
| CACNA1A | KCQPYWEGPNNGITQFDNILFAVLTVFQCI>T<MEGWTDLLYNSNDASGNTWNWLYFIPLIII | 346 |
| CACNA1B | ECREYWPGPNFGITNFDNILFAILTVFQCI>T<MEGWTDILYNTNDAAGNTWNWLYFIPLIII | 342 |
| CACNA1C | VCKPGWDGPKHGITNFDNFAFAMLTVFQCI>T<MEGWTDVLYWVNDAVGRDWPWIYFVTLIII | 391 |
| CACNA1D | ECRSGWVGPNGGITNFDNFAFAMLTVFQCI>T<MEGWTDVLYWVNDAIGWEWPWVYFVSLIIL | 392 |
| CACNA1E | EC-KDWIGPNDGITQFDNILFAVLTVFQCI>T<MEGWTTVLYNTNDALGATWNWLYFIPLIII | 337 |
| CACNA1F | ECRGRWPGPNGGITNFDNFFFAMLTVFQCV>T<MEGWTDVLYWMQDAMGYELPWVYFVSLVIF | 358 |
| CACNA1G | NCSAGEHNPFKGAINFDNIGYAWIAIFQVI>T<LEGWVDIMYFVMDAHSF-YNFIYFILLIIV | 381 |
| CACNA1H | VCRSGDSNPHNGAINFDNIGYAWIAIFQVI>T<LEGWVDIMYYVMDAHSF-YNFIYFILLIIV | 405 |
| CACNA1I | VCRTGSANPHKGAINFDNIGYAWIVIFQVI>T<LEGWVEIMYYVMDAHSF-YNFIYFILLIIV | 384 |
| CACNA1S | ECRGGWPGPNHGITHFDNFGFSMLTVYQCI>T<MEGWTDVLYWVNDAIGNEWPWIYFVTLILL | 320 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T370M | c.1109C>T | Inherited Arrhythmia | LQTS | rs199473099 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Other Cardiac Phenotype | High-efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi-CE-SSCP) mutation screening of SCN5A: a rapid genetic approach to cardiac arrhythmia. Clin Genet. 2006 69(6):504-11. 16712702 | |||
| Inherited Arrhythmia | LQTS | Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families. Eur Heart J. 2008 29(13):1670-80. 18508782 | |||
| 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 | |||