Paralogue Annotation for SCN5A residue 1544

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1544
Reference Amino Acid: T - Threonine
Protein Domain: TM Domain 4

Paralogue Variants mapped to SCN5A residue 1544

No paralogue variants have been mapped to residue 1544 for SCN5A.

SCN5A	LNKYQGFIFDIVTKQAFDVTIMFLICLNMV>T<MMVETDDQSPEKINILAKINLLFVAIFTGE	1574
SCN1A	GNKFQGMVFDFVTRQVFDISIMILICLNMV>T<MMVETDDQSEYVTTILSRINLVFIVLFTGE	1587
SCN2A	ANKFQGMVFDFVTKQVFDISIMILICLNMV>T<MMVETDDQSQEMTNILYWINLVFIVLFTGE	1577
SCN3A	ANKFQGMVFDFVTRQVFDISIMILICLNMV>T<MMVETDDQGKYMTLVLSRINLVFIVLFTGE	1572
SCN4A	QNKIQGMVYDLVTKQAFDITIMILICLNMV>T<MMVETDNQSQLKVDILYNINMIFIIIFTGE	1399
SCN7A	LNKLQGFIFDVVTSQAFNVIVMVLICFQAI>A<MMIDTDVQSLQMSIALYWINSIFVMLYTME	1297
SCN8A	LNKIQGIVFDFVTQQAFDIVIMMLICLNMV>T<MMVETDTQSKQMENILYWINLVFVIFFTCE	1568
SCN9A	GNKIQGCIFDLVTNQAFDISIMVLICLNMV>T<MMVEKEGQSQHMTEVLYWINVVFIILFTGE	1550
SCN10A	LNKFQGFVFDIVTRQAFDITIMVLICLNMI>T<MMVETDDQSEEKTKILGKINQFFVAVFTGE	1522
SCN11A	LNKCQGLVFDIVTSQIFDIIIISLIILNMI>S<MMAESYNQPKAMKSILDHLNWVFVVIFTLE	1412
CACNA1A	KQSFQYRMWQFVVSPPFEYTIMAMIALNTI>V<LMMKFYGASVAYENALRVFNIVFTSLFSLE	1612
CACNA1B	RQSFQYKTWTFVVSPPFEYFIMAMIALNTV>V<LMMKFYDAPYEYELMLKCLNIVFTSMFSME	1518
CACNA1C	-NQHQYKVWYVVNSTYFEYLMFVLILLNTI>C<LAMQHYGQSCLFKIAMNILNMLFTGLFTVE	1265
CACNA1D	-NPYQYKFWYVVNSSPFEYMMFVLIMLNTL>C<LAMQHYEQSKMFNDAMDILNMVFTGVFTVE	1271
CACNA1E	RHTFQYRVWHFVVSPSFEYTIMAMIALNTV>V<LMMKYYSAPCTYELALKYLNIAFTMVFSLE	1524
CACNA1F	-NPHQYRVWATVNSAAFEYLMFLLILLNTV>A<LAMQHYEQTAPFNYAMDILNMVFTGLFTIE	1236
CACNA1G	YSRFRLLVHHLCTSHYLDLFITGVIGLNVV>T<MAMEHYQQPQILDEALKICNYIFTVIFVLE	1657
CACNA1H	YSPTRRSIHSLCTSHYLDLFITFIICVNVI>T<MSMEHYNQPKSLDEALKYCNYVFTIVFVFE	1663
CACNA1I	YCHTRLLIHSMCTSHYLDIFITFIICLNVV>T<MSLEHYNQPTSLETALKYCNYMFTTVFVLE	1533
CACNA1S	-NPYQYQVWYIVTSSYFEYLMFALIMLNTI>C<LGMQHYNQSEQMNHISDILNVAFTIIFTLE	1164
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1544P	c.4630A>C	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430