Paralogue Annotation for CACNA1C residue 187

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 187
Reference Amino Acid: P - Proline
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 187

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	A185T	Long QT syndrome	Medium	9	15176425, 26332594
SCN5A	A185V	Brugada syndrome	Medium	9	20129283

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	NLERVEYLFLI-IFTVEAFLKVIAYGLLFH>P<NAYLRNGWNLLDFIIVVVGLFSAILEQATK	217
CACNA1A	RLDDTEPYFIG-IFCFEAGIKIIALGFAFH>K<GSYLRNGWNVMDFVVVLTGILATVGTEF--	189
CACNA1B	RLDDTEPYFIG-IFCFEAGIKIIALGFVFH>K<GSYLRNGWNVMDFVVVLTGILATAGTDF--	186
CACNA1D	NLEKVEYAFLI-IFTVETFLKIIAYGLLLH>P<NAYVRNGWNLLDFVIVIVGLFSVILEQLTK	219
CACNA1E	RLEKTEPYFIG-IFCFEAGIKIVALGFIFH>K<GSYLRNGWNVMDFIVVLSGILATAGTHFN-	181
CACNA1F	NLEQVEYVFLV-IFTVETVLKIVAYGLVLH>P<SAYIRNGWNLLDFIIVVVGLFSVLLEQGPG	185
CACNA1G	RILQAFDDFIFAFFAVEMVVKMVALGI-FG>K<KCYLGDTWNRLDFFIVIAGMLEYSLDLQ--	172
CACNA1H	NILEAFDAFIFAFFAVEMVIKMVALGL-FG>Q<KCYLGDTWNRLDFFIVVAGMMEYSLDGH--	191
CACNA1I	KILQVFDDFIFIFFAMEMVLKMVALGI-FG>K<KCYLGDTWNRLDFFIVMAGMVEYSLDLQ--	170
CACNA1S	GLEKLEYFFLI-VFSIEAAMKIIAYGFLFH>Q<DAYLRSGWNVLDFTIVFLGVFTVILEQVNV	144
SCN10A	---KIEYVFTV-IYTFEALIKILARGFCLN>E<FTYLRDPWNWLDFSVITLAYVGTAIDLR--	209
SCN11A	--DIAECVFTG-IYIFEALIKILARGFILD>E<FSFLRDPWNWLDSIVIGIAIVSYIPGIT--	215
SCN1A	--KNVEYTFTG-IYTFESLIKIIARGFCLE>D<FTFLRDPWNWLDFTVITFAYVTEFVDLG--	210
SCN2A	--KNVEYTFTG-IYTFESLIKILARGFCLE>D<FTFLRDPWNWLDFTVITFAYVTEFVDLG--	211
SCN3A	--KNVEYTFTG-IYTFESLIKILARGFCLE>D<FTFLRDPWNWLDFSVIVMAYVTEFVDLG--	210
SCN4A	--KNVEYTFTG-IYTFESLIKILARGFCVD>D<FTFLRDPWNWLDFSVIMMAYLTEFVDLG--	213
SCN5A	--KYVEYTFTA-IYTFESLVKILARGFCLH>A<FTFLRDPWNWLDFSVIIMAYVSENIKLG--	213
SCN7A	--PVLENTLLG-IYTFEILVKLFARGVWAG>S<FSFLGDPWNWLDFSVTVFEVIIRYSPLD--	200
SCN8A	--KNVEYTFTG-IYTFESLVKIIARGFCID>G<FTFLRDPWNWLDFSVIMMAYITEFVNLG--	214
SCN9A	--KNVEYTFTG-IYTFESLVKILARGFCVG>E<FTFLRDPWNWLDFVVIVFAYLTEFVNLG--	208
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P187S	c.559C>T	Putative Benign			SIFT: Polyphen: