Paralogue Annotation for SCN5A residue 1667

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1667
Reference Amino Acid: V - Valine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1667

No paralogue variants have been mapped to residue 1667 for SCN5A.



SCN5AIRGAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIYSIFGMANFAYVKW-----EAG-----1687
SCN1AIKGAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIYAIFGMSNFAYVKR-----EVG-----1700
SCN2AIKGAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIYAIFGMSNFAYVKR-----EVG-----1690
SCN3AIKGAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIYAIFGMSNFAYVKK-----EAG-----1685
SCN4AIRGAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIYSIFGMSNFAYVKK-----ESG-----1512
SCN7AGKGPKVFHNLMLPLMLSLPALLNIILLIFL>V<MFIYAVFGMYNFAYVKK-----EAG-----1410
SCN8AIKGAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIFSIFGMSNFAYVKH-----EAG-----1681
SCN9AVKGAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIYAIFGMSNFAYVKK-----EDG-----1663
SCN10AIRAAKGIRTLLFALMMSLPALFNIGLLLFL>V<MFIYSIFGMSSFPHVRW-----EAG-----1637
SCN11AVRAARGIRTLLFALMMSLPSLFNIGLLLFL>I<MFIYAILGMNWFSKVNP-----ESG-----1527
CACNA1ALRQGYTIRILLWTFVQSFKALPYVCLLIAM>L<FFIYAIIGMQVFGNIGIDVEDEDSDEDEFQ1732
CACNA1BLRQGYTIRILLWTFVQSFKALPYVCLLIAM>L<FFIYAIIGMQVFGNIALDD---DTS-----1632
CACNA1CLSRGEGIRTLLWTFIKSFQALPYVALLIVM>L<FFIYAVIGMQVFGKIALND---TTE-----1392
CACNA1DLSRGEGIRTLLWTFIKSFQALPYVALLIAM>L<FFIYAVIGMQMFGKVAMRD---NNQ-----1402
CACNA1ELRQGYTIRILLWTFVQSFKALPYVCLLIAM>L<FFIYAIIGMQVFGNIKLDE---ESH-----1639
CACNA1FLSKGEGIRTLLWTFIKSFQALPYVALLIAM>I<FFIYAVIGMQMFGKVALQD---GTQ-----1359
CACNA1GLKMAVGMRALLDTVMQALPQVGNLGLLFML>L<FFIFAALGVELFGDLECDET---HP--CEG1778
CACNA1HLKMATGMRALLDTVVQALPQVGNLGLLFML>L<FFIYAALGVELFGRLECSED---NP--CEG1784
CACNA1ILKMATGMRALLDTVVQALPQVGNLGLLFML>L<FFIYAALGVELFGKLVCNDE---NP--CEG1654
CACNA1SLSRAEGVRTLLWTFIKSFQALPYVALLIVM>L<FFIYAVIGMQMFGKIALVD---GTQ-----1299
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V1667Ic.4999G>A Inherited ArrhythmiaLQTS,BrSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Effect of the antimalarial drug halofantrine in the long QT syndrome due to a mutation of the cardiac sodium channel gene SCN5A. Am J Cardiol. 2001 87(7):909-11. 11274952
Inherited ArrhythmiaLQTS 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 ArrhythmiaBrS An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283
p.V1667Ac.5000T>C Putative BenignSIFT: deleterious
Polyphen: probably damaging
p.Val1667Leuc.4999G>C UnknownSIFT:
Polyphen: