Paralogue Annotation for CACNA1C residue 361

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 361
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 1

Paralogue Variants mapped to CACNA1C residue 361

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	T370M	Sudden adult death syndrome	High	9	16712702, 19716085

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	VCKPGWDGPKHGITNFDNFAFAMLTVFQCI>T<MEGWTDVLYWVNDAVGRDWPWIYFVTLIII	391
CACNA1A	KCQPYWEGPNNGITQFDNILFAVLTVFQCI>T<MEGWTDLLYNSNDASGNTWNWLYFIPLIII	346
CACNA1B	ECREYWPGPNFGITNFDNILFAILTVFQCI>T<MEGWTDILYNTNDAAGNTWNWLYFIPLIII	342
CACNA1D	ECRSGWVGPNGGITNFDNFAFAMLTVFQCI>T<MEGWTDVLYWVNDAIGWEWPWVYFVSLIIL	392
CACNA1E	EC-KDWIGPNDGITQFDNILFAVLTVFQCI>T<MEGWTTVLYNTNDALGATWNWLYFIPLIII	337
CACNA1F	ECRGRWPGPNGGITNFDNFFFAMLTVFQCV>T<MEGWTDVLYWMQDAMGYELPWVYFVSLVIF	358
CACNA1G	NCSAGEHNPFKGAINFDNIGYAWIAIFQVI>T<LEGWVDIMYFVMDAHSF-YNFIYFILLIIV	381
CACNA1H	VCRSGDSNPHNGAINFDNIGYAWIAIFQVI>T<LEGWVDIMYYVMDAHSF-YNFIYFILLIIV	405
CACNA1I	VCRTGSANPHKGAINFDNIGYAWIVIFQVI>T<LEGWVEIMYYVMDAHSF-YNFIYFILLIIV	384
CACNA1S	ECRGGWPGPNHGITHFDNFGFSMLTVYQCI>T<MEGWTDVLYWVNDAIGNEWPWIYFVTLILL	320
SCN10A	ICLKTSDNPDFNYTSFDSFAWAFLSLFRLM>T<QDSWERLYQQTLRTSGKIY-MIFFVLVIFL	383
SCN11A	ECKHTKINPDYNYTNFDNFGWSFLAMFRLM>T<QDSWEKLYQQTLRTTGLYS-VFFFIVVIFL	386
SCN1A	MCVKAGRNPNYGYTSFDTFSWAFLSLFRLM>T<QDFWENLYQLTLRAAGKTY-MIFFVLVIFL	409
SCN2A	ICVKAGRNPNYGYTSFDTFSWAFLSLFRLM>T<QDFWENLYQLTLRAAGKTY-MIFFVLVIFL	411
SCN3A	ICVKAGRNPNYGYTSFDTFSWAFLSLFRLM>T<QDYWENLYQLTLRAAGKTY-MIFFVLVIFL	410
SCN4A	ECIKTGRNPNYGYTSYDTFSWAFLALFRLM>T<QDYWENLFQLTLRAAGKTY-MIFFVVIIFL	433
SCN5A	RCLKAGENPDHGYTSFDSFAWAFLALFRLM>T<QDCWERLYQQTLRSAGKIY-MIFFMLVIFL	399
SCN7A	VCVKAGINPDQGFTNFDSFGWALFALFRLM>A<QDYPEVLYHQILYASGKVY-MIFFVVVSFL	380
SCN8A	QCMKAGRNPNYGYTSFDTFSWAFLALFRLM>T<QDYWENLYQLTLRAAGKTY-MIFFVLVIFV	397
SCN9A	TCVKIGRNPDYGYTSFDTFSWAFLALFRLM>T<QDYWENLYQQTLRAAGKTY-MIFFVVVIFL	388
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

There are currently no reported variants at residue 361 for CACNA1C.