Paralogue Annotation for CACNA1C residue 679

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 679
Reference Amino Acid: F - Phenylalanine
Protein Domain: TM domain 2

Paralogue Variants mapped to CACNA1C residue 679

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	E867Q	Brugada syndrome	Medium	6	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	RSIASLLLLLFLFIIIFSLLGMQLFGGKFN>F<D-E------------MQTRRSTFDNFPQSL	696
CACNA1A	KSIISLLFLLFLFIVVFALLGMQLFGGQFN>F<D-E------------G-TPPTNFDTFPAAI	658
CACNA1B	KSIISLLFLLFLFIVVFALLGMQLFGGQFN>F<Q-D------------E-TPTTNFDTFPAAI	654
CACNA1D	KSIASLLLLLFLFIIIFSLLGMQLFGGKFN>F<D-E------------TQTKRSTFDNFPQAL	715
CACNA1E	KSIISLLFLLFLFIVVFALLGMQLFGGRFN>F<N-D------------G-TPSANFDTFPAAI	647
CACNA1F	KSIASLLLLLFLFIIIFSLLGMQLFGGKFN>F<D-Q------------THTKRSTFDTFPQAL	701
CACNA1G	DNVATFCMLLMLFIFIFSILGMHLFGCKFA>S<ER---------DG-DTLPDRKNFDSLLWAI	913
CACNA1H	DNVATFCTLLMLFIFIFSILGMHLFGCKFS>L<KTD--------TG-DTVPDRKNFDSLLWAI	964
CACNA1I	DNVATFCMLLMLFIFIFSILGMHIFGCKFS>L<RTD--------TG-DTVPDRKNFDSLLWAI	811
CACNA1S	RSIASLLLLLFLFIVIFALLGMQLFGGRYD>F<E-D------------TEVRRSNFDNFPQAL	604
SCN10A	GALGNLTIILAIIVFVFALVGKQLLGENYR>N<N-RKN----I-SAPHEDWPRWHMHDFFHSF	839
SCN11A	GALGSLTVVLVIVIFIFSVVGMQLFGRSFN>S<Q-KSPKLCNPTGPTVSCLRHWHMGDFWHSF	758
SCN1A	GALGNLTLVLAIIVFIFAVVGMQLFGKSYK>D<C-VCK----I-AS-DCQLPRWHMNDFFHSF	941
SCN2A	GALGNLTLVLAIIVFIFAVVGMQLFGKSYK>E<C-VCK----I-SN-DCELPRWHMHDFFHSF	932
SCN3A	GALGNLTLVLAIIVFIFAVVGMQLFGKSYK>E<C-VCK----I-ND-DCTLPRWHMNDFFHSF	933
SCN4A	GALGNLTLVLAIIVFIFAVVGMQLFGKSYK>E<C-VCK----I-AL-DCNLPRWHMHDFFHSF	751
SCN5A	GALGNLTLVLAIIVFIFAVVGMQLFGKNYS>E<L-RDS----D-SG---LLPRWHMMDFFHAF	888
SCN7A	VALKDLVLLLFTFIFFSAAFGMKLFGKNYE>E<F-VCH----I-DK-DCQLPRWHMHDFFHSF	678
SCN8A	GALGNLTLVLAIIVFIFAVVGMQLFGKSYK>E<C-VCK----I-NQ-DCELPRWHMHDFFHSF	926
SCN9A	GALGNLTLVLAIIVFIFAVVGMQLFGKSYK>E<C-VCK----I-ND-DCTLPRWHMNDFFHSF	906
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F679L	c.2037T>G	Putative Benign			SIFT: Polyphen: