Paralogue Annotation for RYR1 residue 4977

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4977
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4977

No paralogue variants have been mapped to residue 4977 for RYR1.

RYR1	QQEQVKEDMETKCFICGIGSDYFDTTPHGF>E<THTLEEHNLANYMFFLMYLINKDETEHTGQ	5007
RYR2	QQEQVKEDMETKCFICGIGNDYFDTVPHGF>E<THTLQEHNLANYLFFLMYLINKDETEHTGQ	4936
RYR3	QQEQVREDMETKCFICGIGNDYFDTTPHGF>E<THTLQEHNLANYLFFLMYLINKDETEHTGQ	4839
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4977Q	c.14929G>C	Putative Benign		rs200777598	SIFT: Polyphen: