Paralogue Annotation for RYR2 residue 318

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 318
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 318

No paralogue variants have been mapped to residue 318 for RYR2.

RYR2	HIRWGQPFRLRHVTTGKYLSLMEDKNLLLM>D<KEKADVKSTAFTFRS---SKEKLDVGVRKE	345
RYR1	HLRWGQPLRVRHVTTGQYLALTEDQGLVVV>D<ASKAHTKATSFCFRI---SKEKLDVAPKRD	329
RYR3	NIRWGQAFRLRHLTTGHYLALTEDQGLILQ>D<RAKSDTKSTAFSFRASKELKEKLDSSHKRD	337
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D318N	c.952G>A	Putative Benign			SIFT: Polyphen: