Paralogue Annotation for RYR2 residue 1414

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1414
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1414

No paralogue variants have been mapped to residue 1414 for RYR2.

RYR2	LKQRFLLRRTKPDYSTSHSARLTEDVLADD>R<DDYDFLMQT-STYYYSVRIFPGQEPANVWV	1443
RYR1	LFKAKKVAMMTQPPATPTLPRLPHDVVPAD>N<RDDPEIILNTTTYYYSVRVFAGQEPSCVWA	1449
RYR3	------------------SPCLDSEAFQKR>K<QMQEILSHTTTQCYYAIRIFAGQDPSCVWV	1345
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1414Q	c.4241G>A	Putative Benign			SIFT: Polyphen: