No paralogue variants have been mapped to residue 1646 for SCN5A.
SCN5A | FFSPTLFRVIRLARIGRILRLIRGAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIYSIFGM | 1676 |
SCN1A | FVSPTLFRVIRLARIGRILRLIKGAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIYAIFGM | 1689 |
SCN2A | FVSPTLFRVIRLARIGRILRLIKGAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIYAIFGM | 1679 |
SCN3A | FVSPTLFRVIRLARIGRILRLIKGAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIYAIFGM | 1674 |
SCN4A | FVSPTLFRVIRLARIGRVLRLIRGAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIYSIFGM | 1501 |
SCN7A | LVPPSLVQLILLSRIIHMLRLGKGPKVFHN>L<MLPLMLSLPALLNIILLIFLVMFIYAVFGM | 1399 |
SCN8A | FVSPTLFRVIRLARIGRILRLIKGAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIFSIFGM | 1670 |
SCN9A | FVSPTLFRVIRLARIGRILRLVKGAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIYAIFGM | 1652 |
SCN10A | YFSPTLFRVIRLARIGRILRLIRAAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIYSIFGM | 1626 |
SCN11A | PFPPTLFRIVRLARIGRILRLVRAARGIRT>L<LFALMMSLPSLFNIGLLLFLIMFIYAILGM | 1516 |
CACNA1A | FINLSFLRLFRA---ARLIKLLRQGYTIRI>L<LWTFVQSFKALPYVCLLIAMLFFIYAIIGM | 1711 |
CACNA1B | FINLSFLRLFRA---ARLIKLLRQGYTIRI>L<LWTFVQSFKALPYVCLLIAMLFFIYAIIGM | 1619 |
CACNA1C | RISITFFRLFRV---MRLVKLLSRGEGIRT>L<LWTFIKSFQALPYVALLIVMLFFIYAVIGM | 1379 |
CACNA1D | RISITFFRLFRV---MRLVKLLSRGEGIRT>L<LWTFIKSFQALPYVALLIAMLFFIYAVIGM | 1389 |
CACNA1E | GFNMSFLKLFRA---ARLIKLLRQGYTIRI>L<LWTFVQSFKALPYVCLLIAMLFFIYAIIGM | 1626 |
CACNA1F | RISITFFRLFRV---MRLVKLLSKGEGIRT>L<LWTFIKSFQALPYVALLIAMIFFIYAVIGM | 1346 |
CACNA1G | PINPTIIRIMRVLRIARVLKLLKMAVGMRA>L<LDTVMQALPQVGNLGLLFMLLFFIFAALGV | 1762 |
CACNA1H | PINPTIIRIMRVLRIARVLKLLKMATGMRA>L<LDTVVQALPQVGNLGLLFMLLFFIYAALGV | 1768 |
CACNA1I | PINPTIIRIMRVLRIARVLKLLKMATGMRA>L<LDTVVQALPQVGNLGLLFMLLFFIYAALGV | 1638 |
CACNA1S | RISSAFFRLFRV---MRLIKLLSRAEGVRT>L<LWTFIKSFQALPYVALLIVMLFFIYAVIGM | 1286 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1646R | c.4937T>G | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Genetic characteristics of children and adolescents with long-QT syndrome diagnosed by school-based electrocardiographic screening programs. Circ Arrhythm Electrophysiol. 2014 7(1):107-12. doi: 10.1161/CIRCEP.113.000426. 24363352 |