Paralogue Annotation for SCN5A residue 1772

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1772
Reference Amino Acid: L - Leucine
Protein Domain: TM Domain 4


Paralogue Variants mapped to SCN5A residue 1772

No paralogue variants have been mapped to residue 1772 for SCN5A.



SCN5ACGSPAVGILFFTTYIIISFLIVVNMYIAII>L<ENFSVATEESTEPLSEDDFDMFYEIWEKFD1802
SCN1ACGNPSVGIFFFVSYIIISFLVVVNMYIAVI>L<ENFSVATEESAEPLSEDDFEMFYEVWEKFD1816
SCN2ACGNPSVGIFFFVSYIIISFLVVVNMYIAVI>L<ENFSVATEESAEPLSEDDFEMFYEVWEKFD1806
SCN3ACGNPSVGIFFFVSYIIISFLVVVNMYIAVI>L<ENFSVATEESAEPLSEDDFEMFYEVWEKFD1801
SCN4ACGNPSIGICFFCSYIIISFLIVVNMYIAII>L<ENFNVATEESSEPLGEDDFEMFYETWEKFD1628
SCN7ACGNPSVGIFYFVSYILISWLIIVNMYIVVV>M<EFLNIASKKKNKTLSEDDFRKFFQVWKRFD1526
SCN8ACGNPSVGIFFFVSYIIISFLIVVNMYIAII>L<ENFSVATEESADPLSEDDFETFYEIWEKFD1796
SCN9ACGNPSVGIFYFVSYIIISFLVVVNMYIAVI>L<ENFSVATEESTEPLSEDDFEMFYEVWEKFD1779
SCN10ACGSPAVGIIFFTTYIIISFLIMVNMYIAVI>L<ENFNVATEESTEPLSEDDFDMFYETWEKFD1752
SCN11ACHLPGIATSYFVSYIIISFLIVVNMYIAVI>L<ENFNTATEESEDPLGEDDFDIFYEVWEKFD1634
CACNA1ACGN-EFAYFYFVSFIFLCSFLMLNLFVAVI>M<DNFEYLTRDSSI-LGPHHLDEYVRVWAEYD1840
CACNA1BCGS-DFAYFYFVSFIFLCSFLMLNLFVAVI>M<DNFEYLTRDSSI-LGPHHLDEFIRVWAEYD1738
CACNA1CCGS-SFAVFYFISFYMLCAFLIINLFVAVI>M<DNFDYLTRDWSI-LGPHHLDEFKRIWAEYD1505
CACNA1DCGS-NFAIVYFISFYMLCAFLIINLFVAVI>M<DNFDYLTRDWSI-LGPHHLDEFKRIWSEYD1513
CACNA1ECGT-DLAYVYFVSFIFFCSFLMLNLFVAVI>M<DNFEYLTRDSSI-LGPHHLDEFVRVWAEYD1752
CACNA1FCGS-NFAIAYFISFFMLCAFLIINLFVAVI>M<DNFDYLTRDWSI-LGPHHLDEFKRIWSEYD1470
CACNA1GYNT-VISPIYFVSFVLTAQFVLVNVVIAVL>M<KHLEESNKEAKE---EAELEAELELEMKT-1877
CACNA1HYLP-ALSPVYFVTFVLVAQFVLVNVVVAVL>M<KHLEESNKEARE---DAELDAEIELEMAQG1887
CACNA1ISLQ-FVSPLYFVSFVLTAQFVLINVVVAVL>M<KHLDDSNKEAQE---DAEMDAELELEMAHG1757
CACNA1SCGT-NFAYYYFISFYMLCAFLVINLFVAVI>M<DNFDYLTRDWSI-LGPHHLDEFKAIWAEYD1410
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L1772Vc.5314C>G Inherited ArrhythmiaLQTSrs199473312SIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life: a nationwide questionnaire survey in Japan. Circ Arrhythm Electrophysiol. 2010 3(1):10-7. 19996378