Paralogue Annotation for CACNA1C residue 1710

Residue details

Gene: CACNA1C
Reference Sequences: LRG: LRG_334, Ensembl variant: ENST00000399655 / ENSP00000382563
Amino Acid Position: 1710
Reference Amino Acid: Y - Tyrosine
Protein Domain: C-terminus

Paralogue Variants mapped to CACNA1C residue 1710

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN5A	Y1977N	Long QT syndrome	Medium	2	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	--------ASED-DIFRRAGGLFGNHV-SY>Y<QSDG--------RSAFPQTFT---T-----	1724
CACNA1A	QGPPTDMPNSQP-NSQSVEMREMGRDG-YS>D<SEHYLPMEGQGRAASMPRLPA---------	2099
CACNA1B	RGHSTEIPVGRS-GALAVDVQMQSITRRGP>D<GEPQPGLESQGRAASMPRLAA---------	2008
CACNA1D	--------EEED-DVFKRNGALLGNHV-NH>V<NSDR--------RDSLQQTNT---T-----	1727
CACNA1E	DGQFQERQSLEP-EVSELKSVQPSNHG-IY>L<PSDTQEHAGSGRASSMPRLTV---------	2006
CACNA1F	--------EDEK-DLETNKATMVSQPS-AR>-<--RG--------SGISVSLPVGDRL-----	1687
CACNA1G	RHGSTAEGPLGH-RGWGLPKA--------->-<----Q----SGSVLSVHSQP----------	2086
CACNA1H	QGGSLQSPPRSP-RPASVRT---------->-<---RK----HTFGQRCVSSRP---AAP---	2086
CACNA1I	PFSPDASSPLLP-MPAEFFHPAVSASQ-KG>P<EKGTG----TGTLPKIALQGS---WASLRS	1999
CACNA1S	--------AMEE-GIFRRTGGLFGQVD-NF>L<--ER--------TNSLPPVMA---N-----	1624
SCN10A	--------NC-V---L-PDKS--------->-<------------------------------	1909
SCN11A	--------PH-----S-PLQT--------->-<------------------------------	1772
SCN1A	--------NS-I-----TEKT--------->-<------------------------------	1973
SCN2A	--------NS-T-----PEKT--------->-<------------------------------	1963
SCN3A	--------NS-T-----PEKT--------->-<------------------------------	1958
SCN4A	--------NSSS-----PSPE--------->-<------------------------------	1793
SCN5A	--------NF-SRPLG-PPSS---------><------------------------------	1965
SCN7A	------------------------------>-<------------------------------
SCN8A	--------GT-H-----REKK--------->-<------------------------------	1935
SCN9A	--------NS-S-----PEKT--------->-<------------------------------	1935
cons	> <

See full Alignment of Paralogues

Known Variants in CACNA1C

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y1710D	c.5128T>G	Putative Benign			SIFT: tolerated Polyphen: probably damaging