Paralogue Annotation for SCN5A residue 637

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 637
Reference Amino Acid: P - Proline
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to SCN5A residue 637

No paralogue variants have been mapped to residue 637 for SCN5A.

SCN5A	-------------VMLEHPP--DTTTPSEE>P<GGPQMLTSQAPCVD-GFEEPGARQR-A-LS	664
SCN1A	-------------VIIDKPATDDNGTTTET>E<MRKRRSSSFHVSMD-FLEDPSQRQR-A-MS	715
SCN2A	------------------------GTTTET>E<IRKRRSSSYHVSMD-LLEDPTSRQR-A-MS	706
SCN3A	------------------------GTTTET>E<VRKRRLSSYQISME-MLEDSSGRQR-A-VS	707
SCN4A	------------------------------>-<---------------E---KGAPRQ-S-SS	525
SCN7A	--------------------------TIQI>E<MKKRSPISTDTSLD-VLEDATLRHK-----	461
SCN8A	------------------------A-TTEV>E<IKKKGPGSLLVSMD-QLASYGRKDR-I-NS	699
SCN9A	-------------G-----------TTNQI>H<-KKRRCSSYLLSED-MLNDPNLRQR-A-MS	680
SCN10A	----------------------GAVDVSAF>D<---AGQKKTFLSAE-YLDEPFRAQR-A-MS	612
SCN11A	------------------------------>-<-KRLSQNLSLDHFD-EHGDPLQRQR-A-LS	524
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-CG	490
CACNA1E	-------------------------E---->-<-----AMTRDSSDE-HCV----DIS-S-VG	439
CACNA1F	-------------------------T---->-<-----RS-THSTSSHASL----P-A-SDTG	476
CACNA1G	TQSTGACQS-----SC--KISSPCLK---->-<-----ADSGACGPD-SCP----YCA-R-AG	674
CACNA1H	EHGLGQAPGHLSGLSV--PCPLPSPP---->-<-----AGTLTCELK-SCP----YCT-R-AL	707
CACNA1I	------------------------------>-<-----------DPA-SCP----CCQ-H-ED	560
CACNA1S	-------------------------E---->-<-----SLY-EI-------------------	401
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See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P637L	c.1910C>T	Inherited Arrhythmia	LQTS	rs199473135	SIFT: tolerated Polyphen: benign
Reports		Inherited Arrhythmia	LQTS	Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476