Paralogue Annotation for RYR2 residue 2525

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2525
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2525

No paralogue variants have been mapped to residue 2525 for RYR2.

RYR2	DLRAAASLDTAALSATDMALALNRYLCTAV>L<PLLTRCAPLFAGTEHHASLIDSLLHTVYRL	2555
RYR1	DMRAAASLDTATFSTTEMALALNRYLCLAV>L<PLITKCAPLFAGTEHRAIMVDSMLHTVYRL	2589
RYR3	DLRASASLDTVSLSTTEAALALNRYICSAV>L<PLLTRCAPLFAGTEHCTSLIDSTLQTIYRL	2452
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2525S	c.7574T>C	Putative Benign			SIFT: Polyphen: