Paralogue Annotation for RYR1 residue 2407

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2407
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2407

No paralogue variants have been mapped to residue 2407 for RYR1.

RYR1	LAAIEEAIRISEDPARDGPGIRRDRRREHF>G<EEPPEENRVHLGHAIMSFYAALIDLLGRCA	2437
RYR2	LAAMEEAIKIAEDPSRDGPSPNS-GSSKTL>D<TEEEEDDTIHMGNAIMTFYSALIDLLGRCA	2403
RYR3	LAAMQGAIKISENPALDLPSQGY-KREVST>G<DDEEEEEIVHMGNAIMSFYSALIDLLGRCA	2300
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2407D	c.7220G>A	Putative Benign		rs373897751	SIFT: tolerated Polyphen: benign