Paralogue Annotation for RYR2 residue 499

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 499
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 499

No paralogue variants have been mapped to residue 499 for RYR2.

RYR2	HLEHEDKQNRLRALKNRQNLFQEEGMINLV>L<ECIDRLHVYSSAAHFADVAGREAGESWKSI	529
RYR1	DLQHEEKQSKLRSLRNRQSLFQEEGMLSMV>L<NCIDRLNVYTTAAHFAEFAGEEAAESWKEI	517
RYR3	EMRHEDKQNKLRSLKNRQNLFKEEGMLALV>L<NCIDRLNVYNSVAHFAGIAREESGMAWKEI	516
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L499F	c.1495C>T	Putative Benign			SIFT: deleterious Polyphen: benign