Paralogue Annotation for CACNA1C residue 1139

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1139
Reference Amino Acid: R - Arginine
Protein Domain: TM domain 3

Paralogue Variants mapped to CACNA1C residue 1139

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	N1443S	Brugada syndrome	Medium	9	22984773

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	FTVSTFEGWPELLYRSIDSHTEDKGPIYNY>R<VEISIFFIIYIIIIAFFMMNIFVGFVIVTF	1169
CACNA1A	FTVSTGEGWPQVLKHSVDATFENQGPSPGY>R<MEMSIFYVVYFVVFPFFFVNIFVALIIITF	1514
CACNA1B	FTVSTGEGWPMVLKHSVDATYEEQGPSPGY>R<MELSIFYVVYFVVFPFFFVNIFVALIIITF	1420
CACNA1D	FTVSTFEGWPALLYKAIDSNGENIGPIYNH>R<VEISIFFIIYIIIVAFFMMNIFVGFVIVTF	1175
CACNA1E	FTVSTGEGWPQVLQHSVDVTEEDRGPSRSN>R<MEMSIFYVVYFVVFPFFFVNIFVALIIITF	1426
CACNA1F	FTVSTFEGWPALLYKAIDAYAEDHGPIYNY>R<VEISVFFIVYIIIIAFFMMNIFVGFVIITF	1140
CACNA1G	FVLASKDGWVDIMYDGLDAVGVDQQPIMNH>N<PWMLLYFISFLLIVAFFVLNMFVGVVVENF	1540
CACNA1H	FVLSSKDGWVNIMYDGLDAVGVDQQPVQNH>N<PWMLLYFISFLLIVSFFVLNMFVGVVVENF	1558
CACNA1I	FVLASKDGWVNIMYNGLDAVAVDQQPVTNH>N<PWMLLYFISFLLIVSFFVLNMFVGVVVENF	1434
CACNA1S	FTVSTFEGWPQLLYKAIDSNAEDVGPIYNN>R<VEMAIFFIIYIILIAFFMMNIFVGFVIVTF	1068
SCN10A	LQVATFKGWMDIMYAAVDSREVNMQPKWED>N<VYMYLYFVIFIIFGGFFTLNLFVGVIIDNF	1421
SCN11A	LQVATFKGWMDIIYAAVDSTEKEQQPEFES>N<SLGYIYFVVFIIFGSFFTLNLFIGVIIDNF	1311
SCN1A	LQVATFKGWMDIMYAAVDSRNVELQPKYEE>S<LYMYLYFVIFIIFGSFFTLNLFIGVIIDNF	1486
SCN2A	LQVATFKGWMDIMYAAVDSRNVELQPKYED>N<LYMYLYFVIFIIFGSFFTLNLFIGVIIDNF	1476
SCN3A	LQVATFKGWMDIMYAAVDSRDVKLQPVYEE>N<LYMYLYFVIFIIFGSFFTLNLFIGVIIDNF	1471
SCN4A	LQVATFKGWMDIMYAAVDSREKEEQPQYEV>N<LYMYLYFVIFIIFGSFFTLNLFIGVIIDNF	1298
SCN5A	LQVATFKGWMDIMYAAVDSRGYEEQPQWEY>N<LYMYIYFVIFIIFGSFFTLNLFIGVIIDNF	1473
SCN7A	LQVATFNGWITIMNSAIDSVAVNIQPHFEV>N<IYMYCYFINFIIFGVFLPLSMLITVIIDNF	1196
SCN8A	LQVATFKGWMDIMYAAVDSRKPDEQPKYED>N<IYMYIYFVIFIIFGSFFTLNLFIGVIIDNF	1467
SCN9A	LQVATFKGWTIIMYAAVDSVNVDKQPKYEY>S<LYMYIYFVVFIIFGSFFTLNLFIGVIIDNF	1449
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1139H	c.3416G>A	Other Disease Phenotype			SIFT: Polyphen:
Reports		Other Disease Phenotype		Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms. Neuron. 2015 88(5):910-7. doi: 10.1016/j.neuron.2015.11.009. 26637798