No paralogue variants have been mapped to residue 1652 for SCN5A.
| SCN5A | FRVIRLARIGRILRLIRGAKGIRTLLFALM>M<SLPALFNIGLLLFLVMFIYSIFGMANFAYV | 1682 |
| SCN1A | FRVIRLARIGRILRLIKGAKGIRTLLFALM>M<SLPALFNIGLLLFLVMFIYAIFGMSNFAYV | 1695 |
| SCN2A | FRVIRLARIGRILRLIKGAKGIRTLLFALM>M<SLPALFNIGLLLFLVMFIYAIFGMSNFAYV | 1685 |
| SCN3A | FRVIRLARIGRILRLIKGAKGIRTLLFALM>M<SLPALFNIGLLLFLVMFIYAIFGMSNFAYV | 1680 |
| SCN4A | FRVIRLARIGRVLRLIRGAKGIRTLLFALM>M<SLPALFNIGLLLFLVMFIYSIFGMSNFAYV | 1507 |
| SCN7A | VQLILLSRIIHMLRLGKGPKVFHNLMLPLM>L<SLPALLNIILLIFLVMFIYAVFGMYNFAYV | 1405 |
| SCN8A | FRVIRLARIGRILRLIKGAKGIRTLLFALM>M<SLPALFNIGLLLFLVMFIFSIFGMSNFAYV | 1676 |
| SCN9A | FRVIRLARIGRILRLVKGAKGIRTLLFALM>M<SLPALFNIGLLLFLVMFIYAIFGMSNFAYV | 1658 |
| SCN10A | FRVIRLARIGRILRLIRAAKGIRTLLFALM>M<SLPALFNIGLLLFLVMFIYSIFGMSSFPHV | 1632 |
| SCN11A | FRIVRLARIGRILRLVRAARGIRTLLFALM>M<SLPSLFNIGLLLFLIMFIYAILGMNWFSKV | 1522 |
| CACNA1A | LRLFRA---ARLIKLLRQGYTIRILLWTFV>Q<SFKALPYVCLLIAMLFFIYAIIGMQVFGNI | 1717 |
| CACNA1B | LRLFRA---ARLIKLLRQGYTIRILLWTFV>Q<SFKALPYVCLLIAMLFFIYAIIGMQVFGNI | 1625 |
| CACNA1C | FRLFRV---MRLVKLLSRGEGIRTLLWTFI>K<SFQALPYVALLIVMLFFIYAVIGMQVFGKI | 1385 |
| CACNA1D | FRLFRV---MRLVKLLSRGEGIRTLLWTFI>K<SFQALPYVALLIAMLFFIYAVIGMQMFGKV | 1395 |
| CACNA1E | LKLFRA---ARLIKLLRQGYTIRILLWTFV>Q<SFKALPYVCLLIAMLFFIYAIIGMQVFGNI | 1632 |
| CACNA1F | FRLFRV---MRLVKLLSKGEGIRTLLWTFI>K<SFQALPYVALLIAMIFFIYAVIGMQMFGKV | 1352 |
| CACNA1G | IRIMRVLRIARVLKLLKMAVGMRALLDTVM>Q<ALPQVGNLGLLFMLLFFIFAALGVELFGDL | 1768 |
| CACNA1H | IRIMRVLRIARVLKLLKMATGMRALLDTVV>Q<ALPQVGNLGLLFMLLFFIYAALGVELFGRL | 1774 |
| CACNA1I | IRIMRVLRIARVLKLLKMATGMRALLDTVV>Q<ALPQVGNLGLLFMLLFFIYAALGVELFGKL | 1644 |
| CACNA1S | FRLFRV---MRLIKLLSRAEGVRTLLWTFI>K<SFQALPYVALLIVMLFFIYAVIGMQMFGKI | 1292 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.M1652R | c.4955T>G | Inherited Arrhythmia | LQTS | rs199473291 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Gating properties of SCN5A mutations and the response to mexiletine in long-QT syndrome type 3 patients. Circulation. 2007 116(10):1137-44. 17698727 | ||
| p.M1652T | c.4955T>C | Inherited Arrhythmia | LQTS | rs199473291 | SIFT: deleterious Polyphen: possibly 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 | ||