Paralogue Annotation for CACNA1C residue 1167

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1167
Reference Amino Acid: V - Valine
Protein Domain: TM domain 3

Paralogue Variants mapped to CACNA1C residue 1167

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	D1484G	Dravet syndrome	Medium	9	18930999

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	NYRVEISIFFIIYIIIIAFFMMNIFVGFVI>V<TFQEQGEQE----YKNCELDKNQR------	1187
CACNA1A	GYRMEMSIFYVVYFVVFPFFFVNIFVALII>I<TFQEQGDKM----MEEYSLEKNER------	1532
CACNA1B	GYRMELSIFYVVYFVVFPFFFVNIFVALII>I<TFQEQGDKV----MSECSLEKNER------	1438
CACNA1D	NHRVEISIFFIIYIIIVAFFMMNIFVGFVI>V<TFQEQGEKE----YKNCELDKNQR------	1193
CACNA1E	SNRMEMSIFYVVYFVVFPFFFVNIFVALII>I<TFQEQGDKM----MEECSLEKNER------	1444
CACNA1F	NYRVEISVFFIVYIIIIAFFMMNIFVGFVI>I<TFRAQGEQE----YQNCELDKNQR------	1158
CACNA1G	NHNPWMLLYFISFLLIVAFFVLNMFVGVVV>E<NFHKCRQHQEEEEARRREEKRLRRLEKKRR	1568
CACNA1H	NHNPWMLLYFISFLLIVSFFVLNMFVGVVV>E<NFHKCRQHQEAEEARRREEK----------	1576
CACNA1I	NHNPWMLLYFISFLLIVSFFVLNMFVGVVV>E<NFHKCRQHQEAEEARRREEK----------	1452
CACNA1S	NNRVEMAIFFIIYIILIAFFMMNIFVGFVI>V<TFQEQGETE----YKNCELDKNQR------	1086
SCN10A	EDNVYMYLYFVIFIIFGGFFTLNLFVGVII>D<NFNQQKKKLGGQDIFMTEEQKKYY------	1443
SCN11A	ESNSLGYIYFVVFIIFGSFFTLNLFIGVII>D<NFNQQQKKLGGQDIFMTEEQKKYY------	1333
SCN1A	EESLYMYLYFVIFIIFGSFFTLNLFIGVII>D<NFNQQKKKFGGQDIFMTEEQKKYY------	1508
SCN2A	EDNLYMYLYFVIFIIFGSFFTLNLFIGVII>D<NFNQQKKKFGGQDIFMTEEQKKYY------	1498
SCN3A	EENLYMYLYFVIFIIFGSFFTLNLFIGVII>D<NFNQQKKKFGGQDIFMTEEQKKYY------	1493
SCN4A	EVNLYMYLYFVIFIIFGSFFTLNLFIGVII>D<NFNQQKKKLGGKDIFMTEEQKKYY------	1320
SCN5A	EYNLYMYIYFVIFIIFGSFFTLNLFIGVII>D<NFNQQKKKLGGQDIFMTEEQKKYY------	1495
SCN7A	EVNIYMYCYFINFIIFGVFLPLSMLITVII>D<NFNKHKIKLGGSNIFITVKQRKQY------	1218
SCN8A	EDNIYMYIYFVIFIIFGSFFTLNLFIGVII>D<NFNQQKKKFGGQDIFMTEEQKKYY------	1489
SCN9A	EYSLYMYIYFVVFIIFGSFFTLNLFIGVII>D<NFNQQKKKLGGQDIFMTEEQKKYY------	1471
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1167I	c.3499G>A	Unknown			SIFT: tolerated Polyphen: probably damaging