Paralogue Annotation for RYR1 residue 2816

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2816
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2816

No paralogue variants have been mapped to residue 2816 for RYR1.

RYR1	KTHPMLRPYKTFSEKDKEIYRWPIKESLKA>M<IAWEWTIEKAREGEEEK--TEKKKTRKISQ	2844
RYR2	KVQPLMKPYKLLSEKEKEIYRWPIKESLKT>M<LAWGWRIERTREGDSMALYNRTRRISQTSQ	2812
RYR3	KTHPLIRPFKTLTEKEKEIYRWPARESLKT>M<LAVGWTVERTKEGEALVQQRENEKLRSVSQ	2709
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M2816V	c.8446A>G	Putative Benign			SIFT: Polyphen: