Paralogue Annotation for RYR2 residue 2480

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2480
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2480

No paralogue variants have been mapped to residue 2480 for RYR2.

RYR2	NVVEPDMSAGFCPDHKAAMVLFLDRVYGIE>V<QDFLLHLLEVGFLPDLRAAASLDTAALSAT	2510
RYR1	ALVQPKMSASFVPDHKASMVLFLDRVYGIE>N<QDFLLHVLDVGFLPDMRAAASLDTATFSTT	2544
RYR3	SVSEPDMAANFCPDHKAPMVLFLDRVYGIK>D<QTFLLHLLEVGFLPDLRASASLDTVSLSTT	2407
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2480F	c.7438G>T	Putative Benign			SIFT: Polyphen: