Paralogue Annotation for CACNA1C residue 689

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 689
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 2

Paralogue Variants mapped to CACNA1C residue 689

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	M934I	Myoclonic epilepsy of infancy	Medium	9	14738421, 23195492
SCN1A	M934I	Myoclonic epilepsy of infancy	Medium	9	14738421
SCN9A	M899I	Congenital indifference to pain	Medium	9	21939494

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	LFGGKFNFD-E------------MQTRRST>F<DNFPQSLLTVFQILTGEDWNSVMYDGIMAY	719
CACNA1A	LFGGQFNFD-E------------G-TPPTN>F<DTFPAAIMTVFQILTGEDWNEVMYDGIKSQ	681
CACNA1B	LFGGQFNFQ-D------------E-TPTTN>F<DTFPAAILTVFQILTGEDWNAVMYHGIESQ	677
CACNA1D	LFGGKFNFD-E------------TQTKRST>F<DNFPQALLTVFQILTGEDWNAVMYDGIMAY	738
CACNA1E	LFGGRFNFN-D------------G-TPSAN>F<DTFPAAIMTVFQILTGEDWNEVMYNGIRSQ	670
CACNA1F	LFGGKFNFD-Q------------THTKRST>F<DTFPQALLTVFQILTGEDWNVVMYDGIMAY	724
CACNA1G	LFGCKFASER---------DG-DTLPDRKN>F<DSLLWAIVTVFQILTQEDWNKVLYNGMAS-	935
CACNA1H	LFGCKFSLKTD--------TG-DTVPDRKN>F<DSLLWAIVTVFQILTQEDWNVVLYNGMAS-	986
CACNA1I	IFGCKFSLRTD--------TG-DTVPDRKN>F<DSLLWAIVTVFQILTQEDWNVVLYNGMAS-	833
CACNA1S	LFGGRYDFE-D------------TEVRRSN>F<DNFPQALISVFQVLTGEDWTSMMYNGIMAY	627
SCN10A	LLGENYRNN-RKN----I-SAPHEDWPRWH>M<HDFFHSFLIVFRILCGE-WIENMWACMEV-	860
SCN11A	LFGRSFNSQ-KSPKLCNPTGPTVSCLRHWH>M<GDFWHSFLVVFRILCGE-WIENMWECMQEA	780
SCN1A	LFGKSYKDC-VCK----I-AS-DCQLPRWH>M<NDFFHSFLIVFRVLCGE-WIETMWDCMEV-	962
SCN2A	LFGKSYKEC-VCK----I-SN-DCELPRWH>M<HDFFHSFLIVFRVLCGE-WIETMWDCMEV-	953
SCN3A	LFGKSYKEC-VCK----I-ND-DCTLPRWH>M<NDFFHSFLIVFRVLCGE-WIETMWDCMEV-	954
SCN4A	LFGKSYKEC-VCK----I-AL-DCNLPRWH>M<HDFFHSFLIVFRILCGE-WIETMWDCMEV-	772
SCN5A	LFGKNYSEL-RDS----D-SG---LLPRWH>M<MDFFHAFLIIFRILCGE-WIETMWDCMEV-	909
SCN7A	LFGKNYEEF-VCH----I-DK-DCQLPRWH>M<HDFFHSFLNVFRILCGE-WVETLWDCMEV-	699
SCN8A	LFGKSYKEC-VCK----I-NQ-DCELPRWH>M<HDFFHSFLIVFRVLCGE-WIETMWDCMEV-	947
SCN9A	LFGKSYKEC-VCK----I-ND-DCTLPRWH>M<NDFFHSFLIVFRVLCGE-WIETMWDCMEV-	927
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 689 for CACNA1C.