Paralogue Annotation for RYR1 residue 1499

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1499
Reference Amino Acid: F - Phenylalanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1499

No paralogue variants have been mapped to residue 1499 for RYR1.

RYR1	RVVTVTMGDEQGNVHSSLKCSNCYMVWGGD>F<VSPGQQGRISHTDLVIGCLVDLATGLMTFT	1529
RYR2	RTVTVTLGDEKGKVHESIKRSNCYMVCAGE>S<MSPGQ-G-RNNNGLEIGCVVDAASGLLTFI	1521
RYR3	CTVTVTLGDERGRVHESVKRSNCYMVWGGD>I<VASSQRSNRSNVDLEIGCLVDLAMGMLSFS	1425
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F1499S	c.4496T>C	Putative Benign		rs371478672	SIFT: tolerated Polyphen: probably damaging