Paralogue Annotation for RYR2 residue 3072

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3072
Reference Amino Acid: M - Methionine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3072

No paralogue variants have been mapped to residue 3072 for RYR2.

RYR2	ARTVMKTGLESVKSALRAFLDNAAEDLEKT>M<ENLKQGQFTHTRNQPKGVTQIINYTTVALL	3102
RYR1	ARTVMKSGPEIVKAGLRSFFESASEDIEKM>V<ENLRLGKVSQARTQVKGVGQNLTYTTVALL	3137
RYR3	TRTVMKSGSELVKAGLRAFFENAAEDLEKT>S<ENLKLGKFTHSRTQIKGVSQNINYTTVALL	2998
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.M3072V	c.9214A>G	Putative Benign			SIFT: Polyphen: