Paralogue Annotation for RYR2 residue 730

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 730
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 730

No paralogue variants have been mapped to residue 730 for RYR2.

RYR2	TEGYSPYPGGGEEWGGNGVGDDLFSYGFDG>L<HLWSGCIARTVSSPNQHLLRTDDVISCCLD	760
RYR1	TEGYTPYPGAGEGWGGNGVGDDLYSYGFDG>L<HLWTGHVARPVTSPGQHLLAPEDVISCCLD	748
RYR3	SSGYAPYPGGGEGWGGNGVGDDLYSYGFDG>L<HLWSGRIPRAVASINQHLLRSDDVVSCCLD	747
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L730F	c.2188C>T	Putative Benign			SIFT: Polyphen: