No paralogue variants have been mapped to residue 1069 for SCN5A.
| SCN5A | ------------------------EENSLG>T<EEE-------------SSKQQESQPVS--- | 1083 |
| SCN1A | ------------------------DFSSES>D<LEE-------------SK---E-------- | 1143 |
| SCN2A | ------------------------EFSSES>D<MEE-------------SK---E-------- | 1133 |
| SCN3A | ------------------------EFSSES>E<LEE-------------SK---E-------- | 1131 |
| SCN4A | ------------------------ETDTFS>E<PED-------------SKKPPQ-------- | 955 |
| SCN7A | ------------------------EIQSKS>G<DGG-------------SK---E-------- | 864 |
| SCN8A | ------------------------DVSSES>D<PEG-------------SK---D-------- | 1124 |
| SCN9A | ------------------------ELSSDS>D<SEY-------------SK---V-------- | 1106 |
| SCN10A | G-----------------E-----TWKDES>V<PQV-------------PA---E-------- | 1076 |
| SCN11A | ------------------------NAQRIT>Q<PEP-------------EQQAYEL------- | 949 |
| CACNA1A | ------------------------------>-<--------RHGAPATYEGDARREDKERRHR | 1028 |
| CACNA1B | ------------------------------>-<--------RARHKAQPAHEAVEKETT---- | 998 |
| CACNA1C | ENEDK----SPYPNP---ET-----TGEED>E<EEP--------------------------- | 851 |
| CACNA1D | EDEDK----DPYPPC---DVPVGEEEEEEE>E<DEP--------------------------- | 857 |
| CACNA1E | --------------EADTPL-----VLPHP>E<LEVGKHVVLTEQEPEGSSEQALLGNVQLD- | 1041 |
| CACNA1F | EEE-G----ARREGA---DMEEEEEEEEEE>E<EEE--------------------------- | 822 |
| CACNA1G | GRLARALRPDD---P---PL-----DGDDA>D<DEG--------------------------- | 1228 |
| CACNA1H | LPSDFFLRIDS---H---RE-----DAAEL>D<DDS--------------------------- | 1246 |
| CACNA1I | IAKDVFTKMGD-------RG-----DRGED>E<EEI--------------------------- | 1122 |
| CACNA1S | VNEVK----DPYPSA---DF-----PGDDE>E<DEP--------------------------- | 750 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T1069M | c.3206C>T | Inherited Arrhythmia | LQTS | rs199473187 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
| 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 | Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300 | |||