Paralogue Annotation for CACNA1C residue 946

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 946
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 3

Paralogue Variants mapped to CACNA1C residue 946

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	L1265P	Myoclonic epilepsy of infancy	Medium	9	12083760

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	LAAEDPV-QHTSFRNHILFYFDIVFTTIFT>I<EIALKMTAYGAFLHKGSFCRNYFNILDLLV	976
CACNA1A	LAAEDPV-QPNAPRNNVLRYFDYVFTGVFT>F<EMVIKMIDLGLVLHQGAYFRDLWNILDFIV	1320
CACNA1B	LAAEDPV-RTDSPRNNALKYLDYIFTGVFT>F<EMVIKMIDLGLLLHPGAYFRDLWNILDFIV	1227
CACNA1D	LAAEDPI-RSHSFRNTILGYFDYAFTAIFT>V<EILLKMTTFGAFLHKGAFCRNYFNLLDMLV	982
CACNA1E	LAAEDPV-LTNSERNKVLRYFDYVFTGVFT>F<EMVIKMIDQGLILQDGSYFRDLWNILDFVV	1229
CACNA1F	LAAEDPI-RAHSFRNHILGYFDYAFTSIFT>V<EILLKMTVFGAFLHRGSFCRSWFNMLDLLV	947
CACNA1G	IAMERPKIDPHSAERIFLTLSNYIFTAVFL>A<EMTVKVVALGWCFGEQAYLRSSWNVLDGLL	1353
CACNA1H	IALERPDIDPGSTERVFLSVSNYIFTAIFV>A<EMMVKVVALGLLSGEHAYLQSSWNLLDGLL	1371
CACNA1I	IALERPQIEAGSTERIFLTVSNYIFTAIFV>G<EMTLKVVSLGLYFGEQAYLRSSWNVLDGFL	1247
CACNA1S	LAAEDPI-RADSMRNQILKHFDIGFTSVFT>V<EIVLKMTTYGAFLHKGSFCRNYFNMLDLLV	875
SCN10A	LAFEDYYLDQKPTVKALLEYTDRVFTFIFV>F<EMLLKWVAYGF----KKYFTNAWCWLDFLI	1225
SCN11A	LIFEDVHLENQPKIQELLNCTDIIFTHIFI>L<EMVLKWVAFGF----GKYFTSAWCCLDFII	1129
SCN1A	LAFEDIYIDQRKTIKTMLEYADKVFTYIFI>L<EMLLKWVAYGY----QTYFTNAWCWLDFLI	1291
SCN2A	LAFEDIYIEQRKTIKTMLEYADKVFTYIFI>L<EMLLKWVAYGF----QVYFTNAWCWLDFLI	1281
SCN3A	LAFEDIYIEQRKTIKTMLEYADKVFTYIFI>L<EMLLKWVAYGF----QTYFTNAWCWLDFLI	1279
SCN4A	LAFEDIYIEQRRVIRTILEYADKVFTYIFI>M<EMLLKWVAYGF----KVYFTNAWCWLDFLI	1104
SCN5A	LAFEDIYLEERKTIKVLLEYADKMFTYVFV>L<EMLLKWVAYGF----KKYFTNAWCWLDFLI	1278
SCN7A	LAFEDIYMDQRKTIKILLEYADMIFTYIFI>L<EMLLKWMAYGF----KAYFSNGWYRLDFVV	1007
SCN8A	LAFEDIYIEQRKTIRTILEYADKVFTYIFI>L<EMLLKWTAYGF----VKFFTNAWCWLDFLI	1271
SCN9A	LAFEDIYIERKKTIKIILEYADKIFTYIFI>L<EMLLKWIAYGY----KTYFTNAWCWLDFLI	1254
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I946T	c.2837T>C	Putative Benign			SIFT: Polyphen: