No paralogue variants have been mapped to residue 1839 for SCN5A.
| SCN5A | DFADALSEPLR--IAK--PNQI---SLINM>D<LPMVSGD-RIHCMDILFAFTKRVLGES--G | 1866 |
| SCN1A | QFAAALEPPLN--LPQ--PNKL---QLIAM>D<LPMVSGD-RIHCLDILFAFTKRVLGES--G | 1880 |
| SCN2A | DFADALDPPLL--IAK--PNKV---QLIAM>D<LPMVSGD-RIHCLDILFAFTKRVLGES--G | 1870 |
| SCN3A | DFAAALDPPLL--IAK--PNKV---QLIAM>D<LPMVSGD-RIHCLDILFAFTKRVLGES--G | 1865 |
| SCN4A | DFVDTLQEPLR--IAK--PNKI---KLITL>D<LPMVPGD-KIHCLDILFALTKEVLGDS--G | 1692 |
| SCN7A | DFAAALDPPLF--MAK--PNKG---QLIAL>D<LPMAVGD-RIHCLDILLAFTKRVMGQD--V | 1590 |
| SCN8A | DFADALEHPLR--VPK--PNTI---ELIAM>D<LPMVSGD-RIHCLDILFAFTKRVLGDS--G | 1860 |
| SCN9A | DFAAALDPPLL--IAK--PNKV---QLIAM>D<LPMVSGD-RIHCLDILFAFTKRVLGES--G | 1843 |
| SCN10A | DFADTLSGPLR--IPK--PNRN---ILIQM>D<LPLVPGD-KIHCLDILFAFTKNVLGES--G | 1816 |
| SCN11A | DFADALPEPLR--VAK--PNKY---QFLVM>D<LPMVSED-RLHCMDILFAFTARVLGGS--D | 1698 |
| CACNA1A | SLLRVISPPLG--LGKKCPHRVACKRLLRM>D<LPVADD-NTVHFNSTLMALIRTALDIKIAK | 1911 |
| CACNA1B | EMLKHMSPPLG--LGKKCPARVAYKRLVRM>N<MPISNEDMTVHFTSTLMALIRTALEIKLAP | 1810 |
| CACNA1C | TLLRRIQPPLG--FGKLCPHRVACKRLVSM>N<MPLNSDG-TVMFNATLFALVRTALRIKTEG | 1576 |
| CACNA1D | TLLRRIQPPLG--FGKLCPHRVACKRLVAM>N<MPLNSDG-TVMFNATLFALVRTALKIKTEG | 1584 |
| CACNA1E | EMLTLMSPPLG--LGKRCPSKVAYKRLVLM>N<MPVAED-MTVHFTSTLMALIRTALDIKIAK | 1823 |
| CACNA1F | ALLRRIQPPLG--FGKLCPHRVACKRLVAM>N<MPLNSDG-TVTFNATLFALVRTSLKIKTEG | 1541 |
| CACNA1G | -LWPGVEGPDS--PDSPKPGAL-------->-<HPAAHA-RSASHFSLEHPTDRQLFDTI--- | 1935 |
| CACNA1H | --------PLP--QESPG--AR-------->D<APN---------------LVARKV------ | 1919 |
| CACNA1I | APGR---GPGGAGGGGDT--EG---GLCRR>C<YSPAQE-N--LWLDSVSLIIKDSL------ | 1814 |
| CACNA1S | TLLRRIQPPLG--FGKFCPHRVACKRLVGM>N<MPLNSDG-TVTFNATLFALVRTALKIKTEG | 1481 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.D1839G | c.5516A>G | Inherited Arrhythmia | LQTS | rs199473321 | SIFT: deleterious Polyphen: probably damaging |
| 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 | ||
| Inherited Arrhythmia | LQTS | Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome. Mutations in brief no. 153. Online. Hum Mutat. 1998 12(1):72. 10627139 | |||