Paralogue Annotation for RYR2 residue 317

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 317
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 317

No paralogue variants have been mapped to residue 317 for RYR2.

RYR2	SHIRWGQPFRLRHVTTGKYLSLMEDKNLLL>M<DKEKADVKSTAFTFRS---SKEKLDVGVRK	344
RYR1	SHLRWGQPLRVRHVTTGQYLALTEDQGLVV>V<DASKAHTKATSFCFRI---SKEKLDVAPKR	328
RYR3	SNIRWGQAFRLRHLTTGHYLALTEDQGLIL>Q<DRAKSDTKSTAFSFRASKELKEKLDSSHKR	336
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M317T	c.950T>C	Putative Benign		rs367601258	SIFT: tolerated Polyphen: benign
p.M317V	c.949A>G	Putative Benign			SIFT: Polyphen: