Paralogue Annotation for RYR1 residue 4967

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4967
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4967

No paralogue variants have been mapped to residue 4967 for RYR1.

RYR1	IIDAFGELRDQQEQVKEDMETKCFICGIGS>D<YFDTTPHGFETHTLEEHNLANYMFFLMYLI	4997
RYR2	IIDAFGELRDQQEQVKEDMETKCFICGIGN>D<YFDTVPHGFETHTLQEHNLANYLFFLMYLI	4926
RYR3	IIDAFGELRDQQEQVREDMETKCFICGIGN>D<YFDTTPHGFETHTLQEHNLANYLFFLMYLI	4829
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D4967E	c.14901C>G	Putative Benign		rs201712715	SIFT: Polyphen: