Paralogue Annotation for RYR2 residue 4083

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4083
Reference Amino Acid: F - Phenylalanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4083

No paralogue variants have been mapped to residue 4083 for RYR2.

RYR2	ESHKHYTQSETEFLLSCAETDENETLDYEE>F<VKRFHEPAKDIGFNVAVLLTNLSEHMPNDT	4113
RYR1	DSQKQFSGPEIQFLLSCSEADENEMINCEE>F<ANRFQEPARDIGFNVAVLLTNLSEHVPHDP	4157
RYR3	EGQKQYTQSEIDFLLSCAEADENDMFNYVD>F<VDRFHEPAKDIGFNVAVLLTNLSEHMPNDS	4009
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F4083L	c.12249C>A	Putative Benign		rs371599450	SIFT: deleterious Polyphen: probably damaging