Paralogue Annotation for RYR1 residue 2835

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2835
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2835

No paralogue variants have been mapped to residue 2835 for RYR1.

RYR1	WPIKESLKAMIAWEWTIEKAREGEEEK--T>E<KKKTRKISQSAQTYDPREGYNPQPPDLSAV	2865
RYR2	WPIKESLKTMLAWGWRIERTREGDSMALYN>R<TRRISQTSQV--SVDAAHGYSPRAIDMSNV	2831
RYR3	WPARESLKTMLAVGWTVERTKEGEALVQQR>E<NEKLRSVSQA--NQ--GNSYSPAPLDLSNV	2726
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2835D	c.8505A>T	Benign		rs144777676	SIFT: Polyphen: benign