Paralogue Annotation for RYR2 residue 4723

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4723
Reference Amino Acid: A - Alanine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4723

No paralogue variants have been mapped to residue 4723 for RYR2.

RYR2	SLSAVLNSIDVKYQMWKLGVVFTDNSFLYL>A<WYMTMSVLGHYNNFFFAAHLLDIAMGFKTL	4753
RYR1	GLLTWLMSIDVKYQIWKFGVIFTDNSFLYL>G<WYMVMSLLGHYNNFFFAAHLLDIAMGVKTL	4824
RYR3	SLVSWLSSIDMKYHIWKLGVVFTDNSFLYL>A<WYTTMSVLGHYNNFFFAAHLLDIAMGFKTL	4656
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A4723T	c.14167G>A	Putative Benign			SIFT: Polyphen: