Paralogue Annotation for CACNA1C residue 1483

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1483
Reference Amino Acid: T - Threonine
Protein Domain: TM domain 4

Paralogue Variants mapped to CACNA1C residue 1483

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	T1779M	Long QT syndrome	High	9	15840476, 22378279, 24055113, 25637381

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	VFYFISFYMLCAFLIINLFVAVIMDNFDYL>T<RDWSI-LGPHHLDEFKRIWAEYDPEAKGRI	1512
CACNA1A	YFYFVSFIFLCSFLMLNLFVAVIMDNFEYL>T<RDSSI-LGPHHLDEYVRVWAEYDPAACGRI	1847
CACNA1B	YFYFVSFIFLCSFLMLNLFVAVIMDNFEYL>T<RDSSI-LGPHHLDEFIRVWAEYDPAACGRI	1745
CACNA1D	IVYFISFYMLCAFLIINLFVAVIMDNFDYL>T<RDWSI-LGPHHLDEFKRIWSEYDPEAKGRI	1520
CACNA1E	YVYFVSFIFFCSFLMLNLFVAVIMDNFEYL>T<RDSSI-LGPHHLDEFVRVWAEYDRAACGRI	1759
CACNA1F	IAYFISFFMLCAFLIINLFVAVIMDNFDYL>T<RDWSI-LGPHHLDEFKRIWSEYDPGAKGRI	1477
CACNA1G	PIYFVSFVLTAQFVLVNVVIAVLMKHLEES>N<KEAKE---EAELEAELELEMKT-LSPQPHS	1884
CACNA1H	PVYFVTFVLVAQFVLVNVVVAVLMKHLEES>N<KEARE---DAELDAEIELEMAQGPGSARRV	1894
CACNA1I	PLYFVSFVLTAQFVLINVVVAVLMKHLDDS>N<KEAQE---DAEMDAELELEMAHGLGPGPRL	1764
CACNA1S	YYYFISFYMLCAFLVINLFVAVIMDNFDYL>T<RDWSI-LGPHHLDEFKAIWAEYDPEAKGRI	1417
SCN10A	IIFFTTYIIISFLIMVNMYIAVILENFNVA>T<EESTEPLSEDDFDMFYETWEKFDPEATQFI	1759
SCN11A	TSYFVSYIIISFLIVVNMYIAVILENFNTA>T<EESEDPLGEDDFDIFYEVWEKFDPEATQFI	1641
SCN1A	IFFFVSYIIISFLVVVNMYIAVILENFSVA>T<EESAEPLSEDDFEMFYEVWEKFDPDATQFM	1823
SCN2A	IFFFVSYIIISFLVVVNMYIAVILENFSVA>T<EESAEPLSEDDFEMFYEVWEKFDPDATQFI	1813
SCN3A	IFFFVSYIIISFLVVVNMYIAVILENFSVA>T<EESAEPLSEDDFEMFYEVWEKFDPDATQFI	1808
SCN4A	ICFFCSYIIISFLIVVNMYIAIILENFNVA>T<EESSEPLGEDDFEMFYETWEKFDPDATQFI	1635
SCN5A	ILFFTTYIIISFLIVVNMYIAIILENFSVA>T<EESTEPLSEDDFDMFYEIWEKFDPEATQFI	1809
SCN7A	IFYFVSYILISWLIIVNMYIVVVMEFLNIA>S<KKKNKTLSEDDFRKFFQVWKRFDPDRTQYI	1533
SCN8A	IFFFVSYIIISFLIVVNMYIAIILENFSVA>T<EESADPLSEDDFETFYEIWEKFDPDATQFI	1803
SCN9A	IFYFVSYIIISFLVVVNMYIAVILENFSVA>T<EESTEPLSEDDFEMFYEVWEKFDPDATQFI	1786
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1483S	c.4447A>T	Putative Benign			SIFT: Polyphen: