Paralogue Annotation for RYR1 residue 2547

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2547
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2547

No paralogue variants have been mapped to residue 2547 for RYR1.

RYR1	FLLHVLDVGFLPDMRAAASLDTATFSTTEM>A<LALNRYLCLAVLPLITKCAPLFAGTEHRAI	2577
RYR2	FLLHLLEVGFLPDLRAAASLDTAALSATDM>A<LALNRYLCTAVLPLLTRCAPLFAGTEHHAS	2543
RYR3	FLLHLLEVGFLPDLRASASLDTVSLSTTEA>A<LALNRYICSAVLPLLTRCAPLFAGTEHCTS	2440
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A2547S	c.7639G>T	Putative Benign		rs374340182	SIFT: deleterious Polyphen: benign
p.A2547V	c.7640C>T	Putative Benign			SIFT: Polyphen: