Paralogue Annotation for CACNA1C residue 1522

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1522
Reference Amino Acid: R - Arginine
Protein Domain: TM domain 4

Paralogue Variants mapped to CACNA1C residue 1522

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	D1819N	Long QT syndrome	Medium	9	16922724, 22685113

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	HHLDEFKRIWAEYDPEAKGRIKHLDVVTLL>R<RIQPPLG--FGKLCPHRVACKRLVSMNMPL	1550
CACNA1A	HHLDEYVRVWAEYDPAACGRIHYKDMYSLL>R<VISPPLG--LGKKCPHRVACKRLLRMDLPV	1885
CACNA1B	HHLDEFIRVWAEYDPAACGRISYNDMFEML>K<HMSPPLG--LGKKCPARVAYKRLVRMNMPI	1783
CACNA1D	HHLDEFKRIWSEYDPEAKGRIKHLDVVTLL>R<RIQPPLG--FGKLCPHRVACKRLVAMNMPL	1558
CACNA1E	HHLDEFVRVWAEYDRAACGRIHYTEMYEML>T<LMSPPLG--LGKRCPSKVAYKRLVLMNMPV	1797
CACNA1F	HHLDEFKRIWSEYDPGAKGRIKHLDVVALL>R<RIQPPLG--FGKLCPHRVACKRLVAMNMPL	1515
CACNA1G	AELEAELELEMKT-LSPQPHSPLGSPF-LW>P<GVEGPDS--PDSPKPGAL---------HPA	1912
CACNA1H	AELDAEIELEMAQGPGSARRVDADRP---->-<----PLP--QESPG--AR--------DAPN	1913
CACNA1I	AEMDAELELEMAHGLGPGPRLPTGSPGAPG>R<---GPGGAGGGGDT--EG---GLCRRCYSP	1796
CACNA1S	HHLDEFKAIWAEYDPEAKGRIKHLDVVTLL>R<RIQPPLG--FGKFCPHRVACKRLVGMNMPL	1455
SCN10A	DDFDMFYETWEKFDPEATQFITFSALSDFA>D<TLSGPLR--IPK--PNRN---ILIQMDLPL	1792
SCN11A	DDFDIFYEVWEKFDPEATQFIKYSALSDFA>D<ALPEPLR--VAK--PNKY---QFLVMDLPM	1674
SCN1A	DDFEMFYEVWEKFDPDATQFMEFEKLSQFA>A<ALEPPLN--LPQ--PNKL---QLIAMDLPM	1856
SCN2A	DDFEMFYEVWEKFDPDATQFIEFAKLSDFA>D<ALDPPLL--IAK--PNKV---QLIAMDLPM	1846
SCN3A	DDFEMFYEVWEKFDPDATQFIEFSKLSDFA>A<ALDPPLL--IAK--PNKV---QLIAMDLPM	1841
SCN4A	DDFEMFYETWEKFDPDATQFIAYSRLSDFV>D<TLQEPLR--IAK--PNKI---KLITLDLPM	1668
SCN5A	DDFDMFYEIWEKFDPEATQFIEYSVLSDFA>D<ALSEPLR--IAK--PNQI---SLINMDLPM	1842
SCN7A	DDFRKFFQVWKRFDPDRTQYIDSSKLSDFA>A<ALDPPLF--MAK--PNKG---QLIALDLPM	1566
SCN8A	DDFETFYEIWEKFDPDATQFIEYCKLADFA>D<ALEHPLR--VPK--PNTI---ELIAMDLPM	1836
SCN9A	DDFEMFYEVWEKFDPDATQFIEFSKLSDFA>A<ALDPPLL--IAK--PNKV---QLIAMDLPM	1819
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1522Q	c.4565G>A	Other Disease Phenotype			SIFT: Polyphen:
Reports		Other Disease Phenotype		Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am J Hum Genet. 2013 93(2):249-63. doi: 10.1016/j.ajhg.2013.06.012. 23849776