Paralogue Annotation for RYR2 residue 3083

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3083
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3083

No paralogue variants have been mapped to residue 3083 for RYR2.

RYR2	VKSALRAFLDNAAEDLEKTMENLKQGQFTH>T<RNQPKGVTQIINYTTVALLPMLSSLFEHIG	3113
RYR1	VKAGLRSFFESASEDIEKMVENLRLGKVSQ>A<RTQVKGVGQNLTYTTVALLPVLTTLFQHIA	3148
RYR3	VKAGLRAFFENAAEDLEKTSENLKLGKFTH>S<RTQIKGVSQNINYTTVALLPILTSIFEHVT	3009
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T3083N	c.9248C>A	Putative Benign			SIFT: tolerated Polyphen: benign