Paralogue Annotation for RYR1 residue 4747

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4747
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4747

No paralogue variants have been mapped to residue 4747 for RYR1.

RYR1	WDKFVKRKVLDKHGDIYGRERIAELLGMDL>A<TLEITAHNER-KPNPPPGLLTWLMSIDVKY	4776
RYR2	WDKFVKRKVMDKYGEFYGRDRISELLGMDK>A<ALDFSDAREKKKPKKDSSLSAVLNSIDVKY	4705
RYR3	WDKFVKRKVINKYGDLYGAERIAELLGLDK>N<ALDFSPVEET-KA-EAASLVSWLSSIDMKY	4608
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A4747T	c.14239G>A	Putative Benign			SIFT: Polyphen: