Paralogue Annotation for CACNA1C residue 1671

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1671
Reference Amino Acid: G - Glycine
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 1671

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1A	A2006T	Hemiplegic migraine	Low	2	24664531

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	-QAGLRTL-H-DIGPE-IRRA-------IS>G<----DLTAEEE-LD-K-AMKEAVSA-----	1689
CACNA1A	----PTQ-------EG-GP-G-------QN>A<LPS-TQLDPGGALM---AHESGLKESPSWV	2032
CACNA1B	----LKATLE-QT-QPAVLRGARVFLR-QK>S<--S-TSLSNGGAIQ---NQESGIKESVSWG	1941
CACNA1D	-QAGLRTL-H-DIGPE-IRRA-------IS>C<----DLQDDEP-EE-----TKR--------	1692
CACNA1E	----LPQ-------EI-IA-N-------AK>A<LPY-LQQDPVSGL-------SGRSGYPSMS	1939
CACNA1F	-QAGLRSL-Q-DLGPE-MRQA-------LT>C<----DTEEEEE-EG-----QEGVEE-----	1652
CACNA1G	----LTD-------DSLP--------DDMH>T<LLLSALESN-MQPH---PTELPGPDLLTVR	2037
CACNA1H	----PAR-------SGEPLHALSPRGTARS>P<SLSRLLCRQ-EAVH---TDSLEGKIDSPRD	2033
CACNA1I	----SKG-------ELDP-----PEPMRVG>D<LGECFFPLS-STAVSPDPENFLCEMEEIPF	1930
CACNA1S	-QAGLRTI-EEEAAPE-ICRT-------VS>G<----DLAAEEE-LE-----RAMVEA-----	1591
SCN10A	-AASLPDEGF-VAFTA-------------->-<-----------------------NE-----	1901
SCN11A	-------NDL-----E-------------->-<-----------------------NG-----	1765
SCN1A	GANLLIKEDM-IIDRI-------------->-<-----------------------NE-----	1966
SCN2A	CDGTPIKEDT-LIDKL-------------->-<-----------------------NE-----	1956
SCN3A	RIDLPIKQDM-IIDKL-------------->-<-----------------------NG-----	1951
SCN4A	GDDAPEKEGL-LANTM-SKMY--------->-<-----------GHE---------NG-----	1785
SCN5A	EEDAPEREGL-IAYVM-------------->-<-----------------------SE-----	1954
SCN7A	-DVHATKEGA-YFDKA-------------->-<-----------------------KE-----	1674
SCN8A	------KKTT-SNKLE-------------->-<-----------------------NG-----	1928
SCN9A	-DDLLNKKDM-AFDNV-------------->-<-----------------------NE-----	1928
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G1671A	c.5012G>C	Putative Benign			SIFT: Polyphen: