No paralogue variants have been mapped to residue 912 for SCN5A.
SCN5A | FLIIFRILCGE-WIETMWDCMEV-----SG>Q<SLCLLVFLLVMVIGNLVVLNLFLALLLSSF | 942 |
SCN1A | FLIVFRVLCGE-WIETMWDCMEV-----AG>Q<AMCLTVFMMVMVIGNLVVLNLFLALLLSSF | 995 |
SCN2A | FLIVFRVLCGE-WIETMWDCMEV-----AG>Q<TMCLTVFMMVMVIGNLVVLNLFLALLLSSF | 986 |
SCN3A | FLIVFRVLCGE-WIETMWDCMEV-----AG>Q<TMCLIVFMLVMVIGNLVVLNLFLALLLSSF | 987 |
SCN4A | FLIVFRILCGE-WIETMWDCMEV-----AG>Q<AMCLTVFLMVMVIGNLVVLNLFLALLLSSF | 805 |
SCN7A | FLNVFRILCGE-WVETLWDCMEV-----AG>Q<SWCIPFYLMVILIGNLLVLYLFLA-LVSSF | 731 |
SCN8A | FLIVFRVLCGE-WIETMWDCMEV-----AG>Q<AMCLIVFMMVMVIGNLVVLNLFLALLLSSF | 980 |
SCN9A | FLIVFRVLCGE-WIETMWDCMEV-----AG>Q<AMCLIVYMMVMVIGNLVVLNLFLALLLSSF | 960 |
SCN10A | FLIVFRILCGE-WIENMWACMEV-----GQ>K<SICLILFLTVMVLGNLVVLNLFIALLLNSF | 893 |
SCN11A | FLVVFRILCGE-WIENMWECMQEAN---AS>S<SLCVIVFILITVIGKLVVLNLFIALLLNSF | 814 |
CACNA1A | IMTVFQILTGEDWNEVMYDGIKSQGGV-QG>G<MVFSIYFIVLTLFGNYTLLNVFLAIAVDNL | 717 |
CACNA1B | ILTVFQILTGEDWNAVMYHGIESQGGV-SK>G<MFSSFYFIVLTLFGNYTLLNVFLAIAVDNL | 713 |
CACNA1C | LLTVFQILTGEDWNSVMYDGIMAYGGPSFP>G<MLVCIYFIILFICGNYILLNVFLAIAVDNL | 756 |
CACNA1D | LLTVFQILTGEDWNAVMYDGIMAYGGPSSS>G<MIVCIYFIILFICGNYILLNVFLAIAVDNL | 775 |
CACNA1E | IMTVFQILTGEDWNEVMYNGIRSQGGV-SS>G<MWSAIYFIVLTLFGNYTLLNVFLAIAVDNL | 706 |
CACNA1F | LLTVFQILTGEDWNVVMYDGIMAYGGPFFP>G<MLVCIYFIILFICGNYILLNVFLAIAVDNL | 761 |
CACNA1G | IVTVFQILTQEDWNKVLYNGMAS-T-S--->-<SWAALYFIALMTFGNYVLFNLLVAILVEGF | 967 |
CACNA1H | IVTVFQILTQEDWNVVLYNGMAS-T-S--->-<SWAALYFVALMTFGNYVLFNLLVAILVEGF | 1018 |
CACNA1I | IVTVFQILTQEDWNVVLYNGMAS-T-S--->-<PWASLYFVALMTFGNYVLFNLLVAILVEGF | 865 |
CACNA1S | LISVFQVLTGEDWTSMMYNGIMAYGGPSYP>G<MLVCIYFIILFVCGNYILLNVFLAIAVDNL | 664 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q912R | c.2735A>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 |