Paralogue Annotation for RYR1 residue 2578

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2578
Reference Amino Acid: M - Methionine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2578

No paralogue variants have been mapped to residue 2578 for RYR1.

RYR1	LALNRYLCLAVLPLITKCAPLFAGTEHRAI>M<VDSMLHTVYRLSRGRSLTKAQRDVIEDCLM	2608
RYR2	LALNRYLCTAVLPLLTRCAPLFAGTEHHAS>L<IDSLLHTVYRLSKGCSLTKAQRDSIEVCLL	2574
RYR3	LALNRYICSAVLPLLTRCAPLFAGTEHCTS>L<IDSTLQTIYRLSKGRSLTKAQRDTIEECLL	2471
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M2578T	c.7733T>C	Putative Benign			SIFT: Polyphen: