Paralogue Annotation for RYR2 residue 3174

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3174
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3174

No paralogue variants have been mapped to residue 3174 for RYR2.

RYR2	KSIYVERQRSALGECLAAFAGAFPVAFLET>H<LDKHNIYSIYNTKSSRERAALSLPTNVEDV	3204
RYR1	KNTYVEKLRPALGECLARLAAAMPVAFLEP>Q<LNEYNACSVYTTKSPRERAILGLPNSVEEM	3239
RYR3	KNIYVERQRPALGECLASLAAAIPVAFLEP>T<LNRYNPLSVFNTKTPRERSILGMPDTVEDM	3100
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H3174Q	c.9522T>A	Putative Benign			SIFT: Polyphen: