Paralogue Annotation for RYR1 residue 4821

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4821
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4821

No paralogue variants have been mapped to residue 4821 for RYR1.

RYR1	LYLGWYMVMSLLGHYNNFFFAAHLLDIAMG>V<KTLRTILSSVTHNGKQLVMTVGLLAVVVYL	4851
RYR2	LYLAWYMTMSVLGHYNNFFFAAHLLDIAMG>F<KTLRTILSSVTHNGKQLVLTVGLLAVVVYL	4780
RYR3	LYLAWYTTMSVLGHYNNFFFAAHLLDIAMG>F<KTLRTILSSVTHNGKQLVLTVGLLAVVVYL	4683
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V4821F	c.14461G>T	Putative Benign			SIFT: Polyphen: