Paralogue Annotation for RYR2 residue 4111

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4111
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4111

No paralogue variants have been mapped to residue 4111 for RYR2.

RYR2	EEFVKRFHEPAKDIGFNVAVLLTNLSEHMP>N<DTRLQTFLELAESVLNYFQPFLGRIEIMGS	4141
RYR1	EEFANRFQEPARDIGFNVAVLLTNLSEHVP>H<DPRLHNFLELAESILEYFRPYLGRIEIMGA	4185
RYR3	VDFVDRFHEPAKDIGFNVAVLLTNLSEHMP>N<DSRLKCLLDPAESVLNYFEPYLGRIEIMGG	4037
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N4111H	c.12331A>C	Putative Benign		rs192890834	SIFT: tolerated Polyphen: benign