Paralogue Annotation for SCN5A residue 1650

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1650
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1650

No paralogue variants have been mapped to residue 1650 for SCN5A.



SCN5ATLFRVIRLARIGRILRLIRGAKGIRTLLFA>L<MMSLPALFNIGLLLFLVMFIYSIFGMANFA1680
SCN1ATLFRVIRLARIGRILRLIKGAKGIRTLLFA>L<MMSLPALFNIGLLLFLVMFIYAIFGMSNFA1693
SCN2ATLFRVIRLARIGRILRLIKGAKGIRTLLFA>L<MMSLPALFNIGLLLFLVMFIYAIFGMSNFA1683
SCN3ATLFRVIRLARIGRILRLIKGAKGIRTLLFA>L<MMSLPALFNIGLLLFLVMFIYAIFGMSNFA1678
SCN4ATLFRVIRLARIGRVLRLIRGAKGIRTLLFA>L<MMSLPALFNIGLLLFLVMFIYSIFGMSNFA1505
SCN7ASLVQLILLSRIIHMLRLGKGPKVFHNLMLP>L<MLSLPALLNIILLIFLVMFIYAVFGMYNFA1403
SCN8ATLFRVIRLARIGRILRLIKGAKGIRTLLFA>L<MMSLPALFNIGLLLFLVMFIFSIFGMSNFA1674
SCN9ATLFRVIRLARIGRILRLVKGAKGIRTLLFA>L<MMSLPALFNIGLLLFLVMFIYAIFGMSNFA1656
SCN10ATLFRVIRLARIGRILRLIRAAKGIRTLLFA>L<MMSLPALFNIGLLLFLVMFIYSIFGMSSFP1630
SCN11ATLFRIVRLARIGRILRLVRAARGIRTLLFA>L<MMSLPSLFNIGLLLFLIMFIYAILGMNWFS1520
CACNA1ASFLRLFRA---ARLIKLLRQGYTIRILLWT>F<VQSFKALPYVCLLIAMLFFIYAIIGMQVFG1715
CACNA1BSFLRLFRA---ARLIKLLRQGYTIRILLWT>F<VQSFKALPYVCLLIAMLFFIYAIIGMQVFG1623
CACNA1CTFFRLFRV---MRLVKLLSRGEGIRTLLWT>F<IKSFQALPYVALLIVMLFFIYAVIGMQVFG1383
CACNA1DTFFRLFRV---MRLVKLLSRGEGIRTLLWT>F<IKSFQALPYVALLIAMLFFIYAVIGMQMFG1393
CACNA1ESFLKLFRA---ARLIKLLRQGYTIRILLWT>F<VQSFKALPYVCLLIAMLFFIYAIIGMQVFG1630
CACNA1FTFFRLFRV---MRLVKLLSKGEGIRTLLWT>F<IKSFQALPYVALLIAMIFFIYAVIGMQMFG1350
CACNA1GTIIRIMRVLRIARVLKLLKMAVGMRALLDT>V<MQALPQVGNLGLLFMLLFFIFAALGVELFG1766
CACNA1HTIIRIMRVLRIARVLKLLKMATGMRALLDT>V<VQALPQVGNLGLLFMLLFFIYAALGVELFG1772
CACNA1ITIIRIMRVLRIARVLKLLKMATGMRALLDT>V<VQALPQVGNLGLLFMLLFFIYAALGVELFG1642
CACNA1SAFFRLFRV---MRLIKLLSRAEGVRTLLWT>F<IKSFQALPYVALLIVMLFFIYAVIGMQMFG1290
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L1650Fc.4948C>T Inherited ArrhythmiaLQTSrs199473290SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS 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
p.L1650Hc.4949T>A Other Cardiac PhenotypeSIFT:
Polyphen:
ReportsOther Cardiac Phenotype Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775