Paralogue Annotation for RYR1 residue 244

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 244
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 244

No paralogue variants have been mapped to residue 244 for RYR1.

RYR1	GGHVLRLFHGHMDECLTISPAD-SDDQRRL>V<YYEGGAVCTHARSLWRLEPLRISWSGSHLR	274
RYR2	GGDVLRLLHGHMDECLTVPSGEHGEEQRRT>V<HYEGGAVSVHARSLWRLETLRVAWSGSHIR	290
RYR3	GGHVVRLFHGH-DECLTIPSTDQNDSQHRR>I<FYEAGGAGTRARSLWRVEPLRISWSGSNIR	279
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V244A	c.731T>C	Putative Benign			SIFT: Polyphen: