Paralogue Annotation for SCN5A residue 655

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 655
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to SCN5A residue 655

No paralogue variants have been mapped to residue 655 for SCN5A.

SCN5A	P--DTTTPSEEPGGPQMLTSQAPCVD-GFE>E<PGARQR-A-LSAVSVLTSA----L-EELE-	677
SCN1A	ATDDNGTTTETEMRKRRSSSFHVSMD-FLE>D<PSQRQR-A-MSIASILTNT----V-EELE-	728
SCN2A	-----GTTTETEIRKRRSSSYHVSMD-LLE>D<PTSRQR-A-MSIASILTNT----M-EELE-	719
SCN3A	-----GTTTETEVRKRRLSSYQISME-MLE>D<SSGRQR-A-VSIASILTNT----M-EELE-	720
SCN4A	---------------------------E-->-<KGAPRQ-S-SSGDSGISDA----M-EELE-	538
SCN7A	-------TIQIEMKKRSPISTDTSLD-VLE>D<ATLRHK-------------------EELE-	465
SCN8A	-----A-TTEVEIKKKGPGSLLVSMD-QLA>S<YGRKDR-I-NSIMSVVTNTL---V-EELE-	713
SCN9A	------TTNQIH-KKRRCSSYLLSED-MLN>D<PNLRQR-A-MSRASILTNT----V-EELE-	693
SCN10A	---GAVDVSAFD---AGQKKTFLSAE-YLD>E<PFRAQR-A-MSVVSIITSV----L-EELE-	625
SCN11A	-------------KRLSQNLSLDHFD-EHG>D<PLQRQR-A-LSAVSILTIT----M-KEQE-	537
CACNA1A	------D----------LLNPEEAED-QLA>-<---DIA-S-VG-------------------	450
CACNA1B	------D----------LIHAEEGED-RFA>-<---DLC-A-VG-------------------	446
CACNA1C	------E----------SVNTENVAG-G-D>-<---IEGEN-CG-------------------	490
CACNA1D	------E----------SVNTENVSG-EGE>-<---NRG-C-CGSLWCWWR-------RRGA-	501
CACNA1E	------E----------AMTRDSSDE-HCV>-<---DIS-S-VG-------------------	439
CACNA1F	------T----------RS-THSTSSHASL>-<---P-A-SDTGSMTETQG-------DEDE-	487
CACNA1G	ISSPCLK----------ADSGACGPD-SCP>-<---YCA-R-AG-----AG-----EVELADR	683
CACNA1H	CPLPSPP----------AGTLTCELK-SCP>-<---YCT-R-AL-----ED-P---EGELSGS	717
CACNA1I	-----------------------DPA-SCP>-<---CCQ-H-ED-----GR-RPSGLGS---T	570
CACNA1S	------E----------SLY-EI------->-<------------------------------	401
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E655K	c.1963G>A	Inherited Arrhythmia	AF	rs199473579	SIFT: deleterious Polyphen: possibly damaging
Reports		Inherited Arrhythmia	AF	Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation. 2008 117(15):1927-35. 18378609