Paralogue Annotation for CACNA1C residue 1211

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1211
Reference Amino Acid: K - Lysine
Protein Domain: Interdomain Linker III-IV

Paralogue Variants mapped to CACNA1C residue 1211

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	F1520L	Cardiomyopathy, dilated	Medium	9	21596231

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	-----KARP-------LRRYIPK--NQHQY>K<VWYVVNSTYFEYLMFVLILLNTICLAMQHY	1241
CACNA1A	-----SAKP-------LTRHMPQNKQSFQY>R<MWQFVVSPPFEYTIMAMIALNTIVLMMKFY	1588
CACNA1B	-----SAKP-------LTRYMPQNRQSFQY>K<TWTFVVSPPFEYFIMAMIALNTVVLMMKFY	1494
CACNA1D	-----KARP-------LRRYIPK--NPYQY>K<FWYVVNSSPFEYMMFVLIMLNTLCLAMQHY	1247
CACNA1E	-----SAKP-------LTRYMPQNRHTFQY>R<VWHFVVSPSFEYTIMAMIALNTVVLMMKYY	1500
CACNA1F	-----KAQP-------LRRYIPK--NPHQY>R<VWATVNSAAFEYLMFLLILLNTVALAMQHY	1212
CACNA1G	----ASGSSASAASEAQCKPYYSDYSRFRL>L<VHHLCTSHYLDLFITGVIGLNVVTMAMEHY	1633
CACNA1H	TFPSPEAQ---------RRPYYADYSPTRR>S<IHSLCTSHYLDLFITFIICVNVITMSMEHY	1639
CACNA1I	-----KAQ---------RLPYYATYCHTRL>L<IHSMCTSHYLDIFITFIICLNVVTMSLEHY	1509
CACNA1S	-----KARP-------LRCYIPK--NPYQY>Q<VWYIVTSSYFEYLMFALIMLNTICLGMQHY	1140
SCN10A	---G-SKKP--------QKPIPRPLNKFQG>F<VFDIVTRQAFDITIMVLICLNMITMMVETD	1498
SCN11A	---G-SKKP--------QKPIPRPLNKCQG>L<VFDIVTSQIFDIIIISLIILNMISMMAESY	1388
SCN1A	---G-SKKP--------QKPIPRPGNKFQG>M<VFDFVTRQVFDISIMILICLNMVTMMVETD	1563
SCN2A	---G-SKKP--------QKPIPRPANKFQG>M<VFDFVTKQVFDISIMILICLNMVTMMVETD	1553
SCN3A	---G-SKKP--------QKPIPRPANKFQG>M<VFDFVTRQVFDISIMILICLNMVTMMVETD	1548
SCN4A	---G-SKKP--------QKPIPRPQNKIQG>M<VYDLVTKQAFDITIMILICLNMVTMMVETD	1375
SCN5A	---G-SKKP--------QKPIPRPLNKYQG>F<IFDIVTKQAFDVTIMFLICLNMVTMMVETD	1550
SCN7A	---M-YEDS--------QRPVPRPLNKLQG>F<IFDVVTSQAFNVIVMVLICFQAIAMMIDTD	1273
SCN8A	---G-SKKP--------QKPIPRPLNKIQG>I<VFDFVTQQAFDIVIMMLICLNMVTMMVETD	1544
SCN9A	---G-SKKP--------QKPIPRPGNKIQG>C<IFDLVTNQAFDISIMVLICLNMVTMMVEKE	1526
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Lys1211Glu	c.3631A>G	Unknown			SIFT: Polyphen: