Paralogue Annotation for CACNA1C residue 1689

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1689
Reference Amino Acid: A - Alanine
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 1689

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	E1954K	Long QT syndrome	Low	1	23631430

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	---ISG----DLTAEEE-LD-K-AMKEAVS>A<------------------------------	1689
CACNA1A	---QNALPS-TQLDPGGALM---AHESGLK>E<SPSWVTQRAQEMFQKTGTWSPEQGPPTDMP	2057
CACNA1B	LR-QKS--S-TSLSNGGAIQ---NQESGIK>E<SVSWGTQRTQDAPHEA-RPPLERGHSTEIP	1965
CACNA1D	---ISC----DLQDDEP-EE-----TKR-->-<------------------------------	1692
CACNA1E	---AKALPY-LQQDPVSGL-------SGRS>G<YPSMSPLSPQDIFQLACMDPADDGQFQERQ	1964
CACNA1F	---LTC----DTEEEEE-EG-----QEGVE>E<------------------------------	1652
CACNA1G	-DDMHTLLLSALESN-MQPH---PTELPGP>D<LLTVRKSGVSRTHSLPNDSYMCRHGSTAEG	2062
CACNA1H	GTARSPSLSRLLCRQ-EAVH---TDSLEGK>I<DSPRDTLDPAEPGEKTPVRPVTQGGSLQSP	2058
CACNA1I	PMRVGDLGECFFPLS-STAVSPDPENFLCE>M<EEIPFNPVRSWLKHDSSQAPPSPFSPDASS	1955
CACNA1S	---VSG----DLAAEEE-LE-----RAMVE>A<------------------------------	1591
SCN10A	-----------------------------N>E<------------------------------	1901
SCN11A	-----------------------------N>G<------------------------------	1765
SCN1A	-----------------------------N>E<------------------------------	1966
SCN2A	-----------------------------N>E<------------------------------	1956
SCN3A	-----------------------------N>G<------------------------------	1951
SCN4A	-----------------GHE---------N>G<------------------------------	1785
SCN5A	-----------------------------S>E<------------------------------	1954
SCN7A	-----------------------------K>E<------------------------------	1674
SCN8A	-----------------------------N>G<------------------------------	1928
SCN9A	-----------------------------N>E<------------------------------	1928
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1689T	c.5065G>A	Putative Benign		rs368700869	SIFT: tolerated Polyphen: benign