Paralogue Annotation for RYR2 residue 2354

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2354
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2354

No paralogue variants have been mapped to residue 2354 for RYR2.

RYR2	LIRRPECFGPALRGEGGNGLLAAMEEAIKI>A<EDPSRDGPSPNS-GSSKTLDTEEEEDDTIH	2383
RYR1	LIRKPECFGPALRGEGGSGLLAAIEEAIRI>S<EDPARDGPGIRRDRRREHFGEEPPEENRVH	2417
RYR3	LIRRPECFGPALRGEGGNGLLAAMQGAIKI>S<ENPALDLPSQGY-KREVSTGDDEEEEEIVH	2280
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A2354T	c.7060G>A	Putative Benign			SIFT: Polyphen:
p.A2354S	c.7060G>T	Putative Benign			SIFT: Polyphen: