Paralogue Annotation for SCN5A residue 1646

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1646
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1646

No paralogue variants have been mapped to residue 1646 for SCN5A.



SCN5AFFSPTLFRVIRLARIGRILRLIRGAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIYSIFGM1676
SCN1AFVSPTLFRVIRLARIGRILRLIKGAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIYAIFGM1689
SCN2AFVSPTLFRVIRLARIGRILRLIKGAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIYAIFGM1679
SCN3AFVSPTLFRVIRLARIGRILRLIKGAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIYAIFGM1674
SCN4AFVSPTLFRVIRLARIGRVLRLIRGAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIYSIFGM1501
SCN7ALVPPSLVQLILLSRIIHMLRLGKGPKVFHN>L<MLPLMLSLPALLNIILLIFLVMFIYAVFGM1399
SCN8AFVSPTLFRVIRLARIGRILRLIKGAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIFSIFGM1670
SCN9AFVSPTLFRVIRLARIGRILRLVKGAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIYAIFGM1652
SCN10AYFSPTLFRVIRLARIGRILRLIRAAKGIRT>L<LFALMMSLPALFNIGLLLFLVMFIYSIFGM1626
SCN11APFPPTLFRIVRLARIGRILRLVRAARGIRT>L<LFALMMSLPSLFNIGLLLFLIMFIYAILGM1516
CACNA1AFINLSFLRLFRA---ARLIKLLRQGYTIRI>L<LWTFVQSFKALPYVCLLIAMLFFIYAIIGM1711
CACNA1BFINLSFLRLFRA---ARLIKLLRQGYTIRI>L<LWTFVQSFKALPYVCLLIAMLFFIYAIIGM1619
CACNA1CRISITFFRLFRV---MRLVKLLSRGEGIRT>L<LWTFIKSFQALPYVALLIVMLFFIYAVIGM1379
CACNA1DRISITFFRLFRV---MRLVKLLSRGEGIRT>L<LWTFIKSFQALPYVALLIAMLFFIYAVIGM1389
CACNA1EGFNMSFLKLFRA---ARLIKLLRQGYTIRI>L<LWTFVQSFKALPYVCLLIAMLFFIYAIIGM1626
CACNA1FRISITFFRLFRV---MRLVKLLSKGEGIRT>L<LWTFIKSFQALPYVALLIAMIFFIYAVIGM1346
CACNA1GPINPTIIRIMRVLRIARVLKLLKMAVGMRA>L<LDTVMQALPQVGNLGLLFMLLFFIFAALGV1762
CACNA1HPINPTIIRIMRVLRIARVLKLLKMATGMRA>L<LDTVVQALPQVGNLGLLFMLLFFIYAALGV1768
CACNA1IPINPTIIRIMRVLRIARVLKLLKMATGMRA>L<LDTVVQALPQVGNLGLLFMLLFFIYAALGV1638
CACNA1SRISSAFFRLFRV---MRLIKLLSRAEGVRT>L<LWTFIKSFQALPYVALLIVMLFFIYAVIGM1286
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L1646Rc.4937T>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS 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