Paralogue Annotation for SCN5A residue 1522

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1522
Reference Amino Acid: F - Phenylalanine
Protein Domain: Interdomain Linker III-IV

Paralogue Variants mapped to SCN5A residue 1522

No paralogue variants have been mapped to residue 1522 for SCN5A.

SCN5A	-G-SKKP--------QKPIPRPLNKYQGFI>F<DIVTKQAFDVTIMFLICLNMVTMMVETDDQ	1552
SCN1A	-G-SKKP--------QKPIPRPGNKFQGMV>F<DFVTRQVFDISIMILICLNMVTMMVETDDQ	1565
SCN2A	-G-SKKP--------QKPIPRPANKFQGMV>F<DFVTKQVFDISIMILICLNMVTMMVETDDQ	1555
SCN3A	-G-SKKP--------QKPIPRPANKFQGMV>F<DFVTRQVFDISIMILICLNMVTMMVETDDQ	1550
SCN4A	-G-SKKP--------QKPIPRPQNKIQGMV>Y<DLVTKQAFDITIMILICLNMVTMMVETDNQ	1377
SCN7A	-M-YEDS--------QRPVPRPLNKLQGFI>F<DVVTSQAFNVIVMVLICFQAIAMMIDTDVQ	1275
SCN8A	-G-SKKP--------QKPIPRPLNKIQGIV>F<DFVTQQAFDIVIMMLICLNMVTMMVETDTQ	1546
SCN9A	-G-SKKP--------QKPIPRPGNKIQGCI>F<DLVTNQAFDISIMVLICLNMVTMMVEKEGQ	1528
SCN10A	-G-SKKP--------QKPIPRPLNKFQGFV>F<DIVTRQAFDITIMVLICLNMITMMVETDDQ	1500
SCN11A	-G-SKKP--------QKPIPRPLNKCQGLV>F<DIVTSQIFDIIIISLIILNMISMMAESYNQ	1390
CACNA1A	---SAKP-------LTRHMPQNKQSFQYRM>W<QFVVSPPFEYTIMAMIALNTIVLMMKFYGA	1590
CACNA1B	---SAKP-------LTRYMPQNRQSFQYKT>W<TFVVSPPFEYFIMAMIALNTVVLMMKFYDA	1496
CACNA1C	---KARP-------LRRYIPK--NQHQYKV>W<YVVNSTYFEYLMFVLILLNTICLAMQHYGQ	1243
CACNA1D	---KARP-------LRRYIPK--NPYQYKF>W<YVVNSSPFEYMMFVLIMLNTLCLAMQHYEQ	1249
CACNA1E	---SAKP-------LTRYMPQNRHTFQYRV>W<HFVVSPSFEYTIMAMIALNTVVLMMKYYSA	1502
CACNA1F	---KAQP-------LRRYIPK--NPHQYRV>W<ATVNSAAFEYLMFLLILLNTVALAMQHYEQ	1214
CACNA1G	--ASGSSASAASEAQCKPYYSDYSRFRLLV>H<HLCTSHYLDLFITGVIGLNVVTMAMEHYQQ	1635
CACNA1H	PSPEAQ---------RRPYYADYSPTRRSI>H<SLCTSHYLDLFITFIICVNVITMSMEHYNQ	1641
CACNA1I	---KAQ---------RLPYYATYCHTRLLI>H<SMCTSHYLDIFITFIICLNVVTMSLEHYNQ	1511
CACNA1S	---KARP-------LRCYIPK--NPYQYQV>W<YIVTSSYFEYLMFALIMLNTICLGMQHYNQ	1142
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F1522Y	c.4565T>A	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Long QT molecular autopsy in sudden infant death syndrome. Arch Dis Child. 2014 99(7):635-40. 24596401