Paralogue Annotation for CACNA1C residue 553

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 553
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 2

Paralogue Variants mapped to CACNA1C residue 553

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	E746K	Brugada syndrome	Medium	9	20129283, 26332594

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	SNVFYWLVIFLVFLNTLTIASEHYNQPNWL>T<EVQDTANKALLALFTAEMLLKMYSLGLQAY	583
CACNA1A	TQAFYWTVLSLVALNTLCVAIVHYNQPEWL>S<DFLYYAEFIFLGLFMSEMFIKMYGLGTRPY	546
CACNA1B	AQSFYWVVLCVVALNTLCVAMVHYNQPRRL>T<TTLYFAEFVFLGLFLTEMSLKMYGLGPRSY	542
CACNA1D	SVTFYWLVIVLVFLNTLTISSEHYNQPDWL>T<QIQDIANKVLLALFTCEMLVKMYSLGLQAY	602
CACNA1E	SQVFYWIVLSLVALNTACVAIVHHNQPQWL>T<HLLYYAEFLFLGLFLLEMSLKMYGMGPRLY	535
CACNA1F	SNACYWAVLLLVFLNTLTIASEHHGQPVWL>T<QIQEYANKVLLCLFTVEMLLKLYGLGPSAY	588
CACNA1G	SKYFGRGIMIAILVNTLSMGIEYHEQPEEL>T<NALEISNIVFTSLFALEMLLKLLVYGPFGY	802
CACNA1H	SKYFSRGIMMAILVNTLSMGVEYHEQPEEL>T<NALEISNIVFTSMFALEMLLKLLACGPLGY	852
CACNA1I	SKYFNRGIMMAILVNTVSMGIEHHEQPEEL>T<NILEICNVVFTSMFALEMILKLAAFGLFDY	699
CACNA1S	SKVFYWLVILIVALNTLSIASEHHNQPLWL>T<RLQDIANRVLLSLFTTEMLMKMYGLGLRQY	491
SCN10A	DPFAELTITLCIVVNTIFMAMEHHGMSPTF>E<AMLQIGNIVFTIFFTAEMVFKIIAFDPYYY	724
SCN11A	DPFTELAITICIIINTVFLAMEHHKMEASF>E<KMLNIGNLVFTSIFIAEMCLKIIALDPYHY	636
SCN1A	DPFVDLAITICIVLNTLFMAMEHYPMTDHF>N<NVLTVGNLVFTGIFTAEMFLKIIAMDPYYY	827
SCN2A	DPFVDLAITICIVLNTLFMAMEHYPMTEQF>S<SVLSVGNLVFTGIFTAEMFLKIIAMDPYYY	818
SCN3A	DPFVDLAITICIVLNTLFMAMEHYPMTEQF>S<SVLTVGNLVFTGIFTAEMVLKIIAMDPYYY	819
SCN4A	DPFVDLGITICIVLNTLFMAMEHYPMTEHF>D<NVLTVGNLVFTGIFTAEMVLKLIAMDPYEY	637
SCN5A	DPFTDLTITMCIVLNTLFMALEHYNMTSEF>E<EMLQVGNLVFTGIFTAEMTFKIIALDPYYY	776
SCN7A	APFTDLFLIICIILNVCFLTLEHYPMSKQT>N<TLLNIGNLVFIGIFTAEMIFKIIAMHPYGY	564
SCN8A	DPFVDLAITICIVLNTLFMAMEHHPMTPQF>E<HVLAVGNLVFTGIFTAEMFLKLIAMDPYYY	812
SCN9A	DPFVDLAITICIVLNTLFMAMEHHPMTEEF>K<NVLAIGNLVFTGIFAAEMVLKLIAMDPYEY	792
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 553 for CACNA1C.