Paralogue Annotation for RYR1 residue 3120

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3120
Reference Amino Acid: T - Threonine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3120

No paralogue variants have been mapped to residue 3120 for RYR1.

RYR1	AGLRSFFESASEDIEKMVENLRLGKVSQAR>T<QVKGVGQNLTYTTVALLPVLTTLFQHIAQH	3150
RYR2	SALRAFLDNAAEDLEKTMENLKQGQFTHTR>N<QPKGVTQIINYTTVALLPMLSSLFEHIGQH	3115
RYR3	AGLRAFFENAAEDLEKTSENLKLGKFTHSR>T<QIKGVSQNINYTTVALLPILTSIFEHVTQH	3011
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T3120N	c.9359C>A	Putative Benign			SIFT: Polyphen: