Paralogue Annotation for RYR2 residue 4831

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4831
Reference Amino Acid: I - Isoleucine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4831

No paralogue variants have been mapped to residue 4831 for RYR2.

RYR2	TPDMKCDDMLTCYMFHMYVGVRAGGGIGDE>I<EDPAGDEYEIYRIIFDITFFFFVIVILLAI	4861
RYR1	EPDMKCDDMMTCYLFHMYVGVRAGGGIGDE>I<EDPAGDEYELYRVVFDITFFFFVIVILLAI	4932
RYR3	EPDMKCDDMMTCYLFHMYVGVRAGGGIGDE>I<EDPAGDPYEMYRIVFDITFFFFVIVILLAI	4764
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I4831M	c.14493C>G	Putative Benign			SIFT: Polyphen: