Paralogue Annotation for RYR2 residue 3145

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3145
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3145

No paralogue variants have been mapped to residue 3145 for RYR2.

RYR2	HQFGEDLILEDVQVSCYRILTSLYALGTSK>S<IYVERQRSALGECLAAFAGAFPVAFLETHL	3175
RYR1	HQFGDDVILDDVQVSCYRTLCSIYSLGTTK>N<TYVEKLRPALGECLARLAAAMPVAFLEPQL	3210
RYR3	HQFGMDLLLGDVQISCYHILCSLYSLGTGK>N<IYVERQRPALGECLASLAAAIPVAFLEPTL	3071
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S3145C	c.9433A>T	Putative Benign			SIFT: Polyphen: