Paralogue Annotation for CACNA1C residue 477

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 477
Reference Amino Acid: E - Glutamate
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to CACNA1C residue 477

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	A647D	Brugada syndrome	Low	3	20129283, 24573164, 26332594

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----------SVNT>E<NVAG-G-D----IEGEN-CG----------	490
CACNA1A	---------------D----------LLNP>E<EAED-QLA----DIA-S-VG----------	450
CACNA1B	---------------D----------LIHA>E<EGED-RFA----DLC-A-VG----------	446
CACNA1D	---------------E----------SVNT>E<NVSG-EGE----NRG-C-CGSLWCWWR---	497
CACNA1E	---------------E----------AMTR>D<SSDE-HCV----DIS-S-VG----------	439
CACNA1F	---------------T----------RS-T>H<STSSHASL----P-A-SDTGSMTETQG---	483
CACNA1G	----SC--KISSPCLK----------ADSG>A<CGPD-SCP----YCA-R-AG-----AG---	676
CACNA1H	LSGLSV--PCPLPSPP----------AGTL>T<CELK-SCP----YCT-R-AL-----ED-P-	710
CACNA1I	------------------------------>-<-DPA-SCP----CCQ-H-ED-----GR-RP	564
CACNA1S	---------------E----------SLY->E<I-----------------------------	401
SCN10A	------------GAVDVSAFD---AGQKKT>F<LSAE-YLDEPFRAQR-A-MSVVSIITSV--	620
SCN11A	----------------------KRLSQNLS>L<DHFD-EHGDPLQRQR-A-LSAVSILTIT--	532
SCN1A	---VIIDKPATDDNGTTTETEMRKRRSSSF>H<VSMD-FLEDPSQRQR-A-MSIASILTNT--	723
SCN2A	--------------GTTTETEIRKRRSSSY>H<VSMD-LLEDPTSRQR-A-MSIASILTNT--	714
SCN3A	--------------GTTTETEVRKRRLSSY>Q<ISME-MLEDSSGRQR-A-VSIASILTNT--	715
SCN4A	------------------------------>-<-----E---KGAPRQ-S-SSGDSGISDA--	533
SCN5A	---VMLEHPP--DTTTPSEEPGGPQMLTSQ>A<PCVD-GFEEPGARQR-A-LSAVSVLTSA--	672
SCN7A	----------------TIQIEMKKRSPIST>D<TSLD-VLEDATLRHK---------------	461
SCN8A	--------------A-TTEVEIKKKGPGSL>L<VSMD-QLASYGRKDR-I-NSIMSVVTNTL-	708
SCN9A	---G-----------TTNQIH-KKRRCSSY>L<LSED-MLNDPNLRQR-A-MSRASILTNT--	688
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E477K	c.1429G>A	Putative Benign			SIFT: Polyphen: