No paralogue variants have been mapped to residue 1283 for SCN5A.
| SCN5A | KWVAYGF----KKYFTNAWCWLDFLIVDVS>L<VSLVAN-T----LGFAEMGPIKSLRTLRAL | 1308 |
| SCN1A | KWVAYGY----QTYFTNAWCWLDFLIVDVS>L<VSLTAN-A----LGYSELGAIKSLRTLRAL | 1321 |
| SCN2A | KWVAYGF----QVYFTNAWCWLDFLIVDVS>L<VSLTAN-A----LGYSELGAIKSLRTLRAL | 1311 |
| SCN3A | KWVAYGF----QTYFTNAWCWLDFLIVDVS>L<VSLVAN-A----LGYSELGAIKSLRTLRAL | 1309 |
| SCN4A | KWVAYGF----KVYFTNAWCWLDFLIVDVS>I<ISLVAN-W----LGYSELGPIKSLRTLRAL | 1134 |
| SCN7A | KWMAYGF----KAYFSNGWYRLDFVVVIVF>C<LSLIGK-T----RE--E---LKPLISMKFL | 1032 |
| SCN8A | KWTAYGF----VKFFTNAWCWLDFLIVAVS>L<VSLIAN-A----LGYSELGAIKSLRTLRAL | 1301 |
| SCN9A | KWIAYGY----KTYFTNAWCWLDFLIVDVS>L<VTLVAN-T----LGYSDLGPIKSLRTLRAL | 1284 |
| SCN10A | KWVAYGF----KKYFTNAWCWLDFLIVNIS>L<ISLTAK-I----LEYSEVAPIKALRTLRAL | 1255 |
| SCN11A | KWVAFGF----GKYFTSAWCCLDFIIVIVS>V<TTLI---------N---LMELKSFRTLRAL | 1152 |
| CACNA1A | KMIDLGLVLHQGAYFRDLWNILDFIVVSGA>L<VAFAFTGN----SKGKDINTIKSLRVLRVL | 1351 |
| CACNA1B | KMIDLGLLLHPGAYFRDLWNILDFIVVSGA>L<VAFAFS-G----SKGKDINTIKSLRVLRVL | 1257 |
| CACNA1C | KMTAYGAFLHKGSFCRNYFNILDLLVVSVS>L<ISF----G----IQSSAINVVKILRVLRVL | 1003 |
| CACNA1D | KMTTFGAFLHKGAFCRNYFNLLDMLVVGVS>L<VSF----G----IQSSAISVVKILRVLRVL | 1009 |
| CACNA1E | KMIDQGLILQDGSYFRDLWNILDFVVVVGA>L<VAFALANA-LGTNKGRDIKTIKSLRVLRVL | 1263 |
| CACNA1F | KMTVFGAFLHRGSFCRSWFNMLDLLVVSVS>L<ISF----G----IHSSAISVVKILRVLRVL | 974 |
| CACNA1G | KVVALGWCFGEQAYLRSSWNVLDGLLVLIS>V<IDILVS-MVSD-SGTKILGMLRVLRLLRTL | 1386 |
| CACNA1H | KVVALGLLSGEHAYLQSSWNLLDGLLVLVS>L<VDIVVA-MASA-GGAKILGVLRVLRLLRTL | 1404 |
| CACNA1I | KVVSLGLYFGEQAYLRSSWNVLDGFLVFVS>I<IDIVVS-LASA-GGAKILGVLRVLRLLRTL | 1280 |
| CACNA1S | KMTTYGAFLHKGSFCRNYFNMLDLLVVAVS>L<ISM----G----LESSAISVVKILRVLRVL | 902 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L1283M | c.3847C>A | Inherited Arrhythmia | LQTS | rs199473216 | 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 | ||