Paralogue Annotation for RYR1 residue 2577

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2577
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2577

No paralogue variants have been mapped to residue 2577 for RYR1.

RYR1	ALALNRYLCLAVLPLITKCAPLFAGTEHRA>I<MVDSMLHTVYRLSRGRSLTKAQRDVIEDCL	2607
RYR2	ALALNRYLCTAVLPLLTRCAPLFAGTEHHA>S<LIDSLLHTVYRLSKGCSLTKAQRDSIEVCL	2573
RYR3	ALALNRYICSAVLPLLTRCAPLFAGTEHCT>S<LIDSTLQTIYRLSKGRSLTKAQRDTIEECL	2470
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I2577L	c.7729A>C	Putative Benign			SIFT: tolerated Polyphen: benign
p.I2577V	c.7729A>G	Putative Benign			SIFT: Polyphen: