No paralogue variants have been mapped to residue 1505 for SCN5A.
| SCN5A | EQKKYY------NAM---KK-L----G-SK>K<P--------QKPIPRPLNKYQGFIFDIVTK | 1527 |
| SCN1A | EQKKYY------NAM---KK-L----G-SK>K<P--------QKPIPRPGNKFQGMVFDFVTR | 1540 |
| SCN2A | EQKKYY------NAM---KK-L----G-SK>K<P--------QKPIPRPANKFQGMVFDFVTK | 1530 |
| SCN3A | EQKKYY------NAM---KK-L----G-SK>K<P--------QKPIPRPANKFQGMVFDFVTR | 1525 |
| SCN4A | EQKKYY------NAM---KK-L----G-SK>K<P--------QKPIPRPQNKIQGMVYDLVTK | 1352 |
| SCN7A | KQRKQY------RRL---KK-L----M-YE>D<S--------QRPVPRPLNKLQGFIFDVVTS | 1250 |
| SCN8A | EQKKYY------NAM---KK-L----G-SK>K<P--------QKPIPRPLNKIQGIVFDFVTQ | 1521 |
| SCN9A | EQKKYY------NAM---KK-L----G-SK>K<P--------QKPIPRPGNKIQGCIFDLVTN | 1503 |
| SCN10A | EQKKYY------NAM---KK-L----G-SK>K<P--------QKPIPRPLNKFQGFVFDIVTR | 1475 |
| SCN11A | EQKKYY------NAM---KK-L----G-SK>K<P--------QKPIPRPLNKCQGLVFDIVTS | 1365 |
| CACNA1A | LEKNER------ACI---DFAI------SA>K<P-------LTRHMPQNKQSFQYRMWQFVVS | 1565 |
| CACNA1B | LEKNER------ACI---DFAI------SA>K<P-------LTRYMPQNRQSFQYKTWTFVVS | 1471 |
| CACNA1C | LDKNQR------QCV---EYAL------KA>R<P-------LRRYIPK--NQHQYKVWYVVNS | 1218 |
| CACNA1D | LDKNQR------QCV---EYAL------KA>R<P-------LRRYIPK--NPYQYKFWYVVNS | 1224 |
| CACNA1E | LEKNER------ACI---DFAI------SA>K<P-------LTRYMPQNRHTFQYRVWHFVVS | 1477 |
| CACNA1F | LDKNQR------QCV---EYAL------KA>Q<P-------LRRYIPK--NPHQYRVWATVNS | 1189 |
| CACNA1G | EKRLRRLEKKRRNLML--DDVI-----ASG>S<SASAASEAQCKPYYSDYSRFRLLVHHLCTS | 1610 |
| CACNA1H | EK----------RLRRLERRRRSTFPSPEA>Q<---------RRPYYADYSPTRRSIHSLCTS | 1616 |
| CACNA1I | EK----------RLRRLEKKRR------KA>Q<---------RLPYYATYCHTRLLIHSMCTS | 1486 |
| CACNA1S | LDKNQR------QCV---QYAL------KA>R<P-------LRCYIPK--NPYQYQVWYIVTS | 1117 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.K1505N | c.4515G>T | Inherited Arrhythmia | LQTS | rs199473268 | SIFT: deleterious Polyphen: benign |
| 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 | ||