Paralogue Annotation for CACNA1C residue 1330

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1330
Reference Amino Acid: L - Leucine
Protein Domain: TM domain 4

Paralogue Variants mapped to CACNA1C residue 1330

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	V1637E	Hepatic coma	Medium	6	20392657

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	----HTQ----CSPSMNAEENSRISITFFR>L<FRV---MRLVKLLSRGEGIRTLLWTFIKSF	1357
CACNA1A	----------------------FINLSFLR>L<FRA---ARLIKLLRQGYTIRILLWTFVQSF	1689
CACNA1B	--------------------NNFINLSFLR>L<FRA---ARLIKLLRQGYTIRILLWTFVQSF	1597
CACNA1D	----SENVPVPTATPGNSEESNRISITFFR>L<FRV---MRLVKLLSRGEGIRTLLWTFIKSF	1367
CACNA1E	-------------------NTSGFNMSFLK>L<FRA---ARLIKLLRQGYTIRILLWTFVQSF	1604
CACNA1F	----HLG----E----SSEDSSRISITFFR>L<FRV---MRLVKLLSKGEGIRTLLWTFIKSF	1324
CACNA1G	-------------------ASLPINPTIIR>I<MRVLRIARVLKLLKMAVGMRALLDTVMQAL	1740
CACNA1H	-------------------AALPINPTIIR>I<MRVLRIARVLKLLKMATGMRALLDTVVQAL	1746
CACNA1I	-------------------AALPINPTIIR>I<MRVLRIARVLKLLKMATGMRALLDTVVQAL	1616
CACNA1S	ASSGGLYCLGGGCGNVDPDESARISSAFFR>L<FRV---MRLIKLLSRAEGVRTLLWTFIKSF	1264
SCN10A	-------------------LQSYFSPTLFR>V<IRLARIGRILRLIRAAKGIRTLLFALMMSL	1604
SCN11A	-------------------EHIPFPPTLFR>I<VRLARIGRILRLVRAARGIRTLLFALMMSL	1494
SCN1A	--------------------KYFVSPTLFR>V<IRLARIGRILRLIKGAKGIRTLLFALMMSL	1667
SCN2A	--------------------KYFVSPTLFR>V<IRLARIGRILRLIKGAKGIRTLLFALMMSL	1657
SCN3A	--------------------KYFVSPTLFR>V<IRLARIGRILRLIKGAKGIRTLLFALMMSL	1652
SCN4A	--------------------KYFVSPTLFR>V<IRLARIGRVLRLIRGAKGIRTLLFALMMSL	1479
SCN5A	--------------------KYFFSPTLFR>V<IRLARIGRILRLIRGAKGIRTLLFALMMSL	1654
SCN7A	--------------------SYLVPPSLVQ>L<ILLSRIIHMLRLGKGPKVFHNLMLPLMLSL	1377
SCN8A	--------------------KYFVSPTLFR>V<IRLARIGRILRLIKGAKGIRTLLFALMMSL	1648
SCN9A	--------------------TYFVSPTLFR>V<IRLARIGRILRLVKGAKGIRTLLFALMMSL	1630
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 1330 for CACNA1C.