Paralogue Annotation for SCN5A residue 1494

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1494
Reference Amino Acid: Y - Tyrosine
Protein Domain: Interdomain Linker III-IV

Paralogue Variants mapped to SCN5A residue 1494

No paralogue variants have been mapped to residue 1494 for SCN5A.

SCN5A	LFIGVIIDNFNQQKKKLGGQDIFMTEEQKK>Y<Y------NAM---KK-L----G-SKKP---	1506
SCN1A	LFIGVIIDNFNQQKKKFGGQDIFMTEEQKK>Y<Y------NAM---KK-L----G-SKKP---	1519
SCN2A	LFIGVIIDNFNQQKKKFGGQDIFMTEEQKK>Y<Y------NAM---KK-L----G-SKKP---	1509
SCN3A	LFIGVIIDNFNQQKKKFGGQDIFMTEEQKK>Y<Y------NAM---KK-L----G-SKKP---	1504
SCN4A	LFIGVIIDNFNQQKKKLGGKDIFMTEEQKK>Y<Y------NAM---KK-L----G-SKKP---	1331
SCN7A	MLITVIIDNFNKHKIKLGGSNIFITVKQRK>Q<Y------RRL---KK-L----M-YEDS---	1229
SCN8A	LFIGVIIDNFNQQKKKFGGQDIFMTEEQKK>Y<Y------NAM---KK-L----G-SKKP---	1500
SCN9A	LFIGVIIDNFNQQKKKLGGQDIFMTEEQKK>Y<Y------NAM---KK-L----G-SKKP---	1482
SCN10A	LFVGVIIDNFNQQKKKLGGQDIFMTEEQKK>Y<Y------NAM---KK-L----G-SKKP---	1454
SCN11A	LFIGVIIDNFNQQQKKLGGQDIFMTEEQKK>Y<Y------NAM---KK-L----G-SKKP---	1344
CACNA1A	IFVALIIITFQEQGDKM----MEEYSLEKN>E<R------ACI---DFAI------SAKP---	1543
CACNA1B	IFVALIIITFQEQGDKV----MSECSLEKN>E<R------ACI---DFAI------SAKP---	1449
CACNA1C	IFVGFVIVTFQEQGEQE----YKNCELDKN>Q<R------QCV---EYAL------KARP---	1198
CACNA1D	IFVGFVIVTFQEQGEKE----YKNCELDKN>Q<R------QCV---EYAL------KARP---	1204
CACNA1E	IFVALIIITFQEQGDKM----MEECSLEKN>E<R------ACI---DFAI------SAKP---	1455
CACNA1F	IFVGFVIITFRAQGEQE----YQNCELDKN>Q<R------QCV---EYAL------KAQP---	1169
CACNA1G	MFVGVVVENFHKCRQHQEEEEARRREEKRL>R<RLEKKRRNLML--DDVI-----ASGSSASA	1584
CACNA1H	MFVGVVVENFHKCRQHQEAEEARRREEK-->-<-------RLRRLERRRRSTFPSPEAQ----	1595
CACNA1I	MFVGVVVENFHKCRQHQEAEEARRREEK-->-<-------RLRRLEKKRR------KAQ----	1465
CACNA1S	IFVGFVIVTFQEQGETE----YKNCELDKN>Q<R------QCV---QYAL------KARP---	1097
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y1494N	c.4480T>A	Inherited Arrhythmia	BrS	rs199473261	SIFT: deleterious Polyphen: possibly damaging
Reports		Inherited Arrhythmia	BrS	[Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome]. Zhonghua Xin Xue Guan Bing Za Zhi. 2007 35(12):1122-5. 18341814