Paralogue Annotation for CACNA1C residue 472

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 472
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to CACNA1C residue 472

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	T632M	Brugada syndrome	Medium	2	20129283, 24573164
SCN2A	T674K	Autism spectrum disorder	Medium	2	26637798

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in CACNA1C.

CACNA1C	------------------------------>E<----------SVNTENVAG-G-D----IEG	486
CACNA1A	------------------------------>D<----------LLNPEEAED-QLA----DIA	447
CACNA1B	------------------------------>D<----------LIHAEEGED-RFA----DLC	443
CACNA1D	------------------------------>E<----------SVNTENVSG-EGE----NRG	487
CACNA1E	------------------------------>E<----------AMTRDSSDE-HCV----DIS	436
CACNA1F	------------------------------>T<----------RS-THSTSSHASL----P-A	472
CACNA1G	HKLLETQSTGACQS-----SC--KISSPCL>K<----------ADSGACGPD-SCP----YCA	671
CACNA1H	PHVVGEHGLGQAPGHLSGLSV--PCPLPSP>P<----------AGTLTCELK-SCP----YCT	704
CACNA1I	------------------------------>-<----------------DPA-SCP----CCQ	557
CACNA1S	------------------------------>E<----------SLY-EI--------------	401
SCN10A	SELAP----------------------GAV>D<VSAFD---AGQKKTFLSAE-YLDEPFRAQR	609
SCN11A	---T-------------------------->-<------KRLSQNLSLDHFD-EHGDPLQRQR	521
SCN1A	QLLPE-------------VIIDKPATDDNG>T<TTETEMRKRRSSSFHVSMD-FLEDPSQRQR	712
SCN2A	QLLPE------------------------G>T<TTETEIRKRRSSSYHVSMD-LLEDPTSRQR	703
SCN3A	QLPPE------------------------G>T<TTETEVRKRRLSSYQISME-MLEDSSGRQR	704
SCN4A	------------------------------>-<--------------------E---KGAPRQ	522
SCN5A	HLLRP-------------VMLEHPP--DTT>T<PSEEPGGPQMLTSQAPCVD-GFEEPGARQR	661
SCN7A	------------------------------>-<TIQIEMKKRSPISTDTSLD-VLEDATLRHK	461
SCN8A	RLLPE------------------------A>-<TTEVEIKKKGPGSLLVSMD-QLASYGRKDR	696
SCN9A	QLLPE-------------G----------->T<TNQIH-KKRRCSSYLLSED-MLNDPNLRQR	677
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E472K	c.1414G>A	Putative Benign			SIFT: Polyphen: