Paralogue Annotation for RYR2 residue 4048

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4048
Reference Amino Acid: F - Phenylalanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4048

No paralogue variants have been mapped to residue 4048 for RYR2.

RYR2	DMFLKLKDLTSSDTFKEYDPDGKGVISKRD>F<HKAMESHKHYTQSETEFLLSCAETDENETL	4078
RYR1	DMFLKLKDIVGSEAFQDYVTDPRGLISKKD>F<QKAMDSQKQFSGPEIQFLLSCSEADENEMI	4122
RYR3	DMFLKLKDLTSSDTFKEYDPDGKGIISKKE>F<QKAMEGQKQYTQSEIDFLLSCAEADENDMF	3974
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F4048V	c.12142T>G	Putative Benign			SIFT: Polyphen: