Paralogue Annotation for CACNA1C residue 751

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 751
Reference Amino Acid: I - Isoleucine
Protein Domain: TM domain 2

Paralogue Variants mapped to CACNA1C residue 751

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1F	I756T	Retinal disorder, X-linked	High	9	15807819, 15897456
CACNA1A	I712V	Episodic seizures, ataxia, and migraine with motor	High	9	18940563
SCN1A	L990F	Dravet syndrome	Medium	9	18076640
CACNA1D	I770M	Primary aldosteronism	High	9	23913001

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	GPSFPGMLVCIYFIILFICGNYILLNVFLA>I<AVDNLADAESLTSAQKEEEEE-KERKK-LA	779
CACNA1A	GV-QGGMVFSIYFIVLTLFGNYTLLNVFLA>I<AVDNLANAQELTKDEQEEEEA-ANQKL-AL	740
CACNA1B	GV-SKGMFSSFYFIVLTLFGNYTLLNVFLA>I<AVDNLANAQELTKDEEEMEEA-ANQKL-AL	736
CACNA1D	GPSSSGMIVCIYFIILFICGNYILLNVFLA>I<AVDNLADAESLNTAQKEEAEE-KERKK-IA	798
CACNA1E	GV-SSGMWSAIYFIVLTLFGNYTLLNVFLA>I<AVDNLANAQELTKDEQEEEEA-FNQKH-AL	729
CACNA1F	GPFFPGMLVCIYFIILFICGNYILLNVFLA>I<AVDNLASGDA-GTAKDKGGEK-SNEKDLPQ	784
CACNA1G	-S----SWAALYFIALMTFGNYVLFNLLVA>I<LVEGFQ-AEEISKREDASGQL-SCIQL-PV	989
CACNA1H	-S----SWAALYFVALMTFGNYVLFNLLVA>I<LVEGFQ-AEGDANRSDTDEDKTSVHFEEDF	1042
CACNA1I	-S----PWASLYFVALMTFGNYVLFNLLVA>I<LVEGFQAEGDAN-RSYSDEDQSSSNIE-EF	888
CACNA1S	GPSYPGMLVCIYFIILFVCGNYILLNVFLA>I<AVDNLAEAESLTSAQKAKAEE-KKRRK-MS	687
SCN10A	---GQKSICLILFLTVMVLGNLVVLNLFIA>L<LLNSFS-ADNLTAP-EDDGEV-NNLQV-AL	914
SCN11A	---ASSSLCVIVFILITVIGKLVVLNLFIA>L<LLNSFS-NEERNGNLEGEARK-TKVQL-AL	836
SCN1A	---AGQAMCLTVFMMVMVIGNLVVLNLFLA>L<LLSSFS-ADNLAAT-DDDNEM-NNLQI-AV	1016
SCN2A	---AGQTMCLTVFMMVMVIGNLVVLNLFLA>L<LLSSFS-SDNLAAT-DDDNEM-NNLQI-AV	1007
SCN3A	---AGQTMCLIVFMLVMVIGNLVVLNLFLA>L<LLSSFS-SDNLAAT-DDDNEM-NNLQI-AV	1008
SCN4A	---AGQAMCLTVFLMVMVIGNLVVLNLFLA>L<LLSSFS-ADSLAAS-DEDGEM-NNLQI-AI	826
SCN5A	---SGQSLCLLVFLLVMVIGNLVVLNLFLA>L<LLSSFS-ADNLTAP-DEDREM-NNLQL-AL	963
SCN7A	---AGQSWCIPFYLMVILIGNLLVLYLFLA>-<LVSSFS-SCKDVTA-EENNEA-KNLQL-AV	752
SCN8A	---AGQAMCLIVFMMVMVIGNLVVLNLFLA>L<LLSSFS-ADNLAAT-DDDGEM-NNLQI-SV	1001
SCN9A	---AGQAMCLIVYMMVMVIGNLVVLNLFLA>L<LLSSFS-SDNLTAI-EEDPDA-NNLQI-AV	981
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Ile751Val	c.2251A>G	Unknown			SIFT: Polyphen: