Paralogue Annotation for RYR1 residue 3125

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3125
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3125

No paralogue variants have been mapped to residue 3125 for RYR1.

RYR1	FFESASEDIEKMVENLRLGKVSQARTQVKG>V<GQNLTYTTVALLPVLTTLFQHIAQHQFGDD	3155
RYR2	FLDNAAEDLEKTMENLKQGQFTHTRNQPKG>V<TQIINYTTVALLPMLSSLFEHIGQHQFGED	3120
RYR3	FFENAAEDLEKTSENLKLGKFTHSRTQIKG>V<SQNINYTTVALLPILTSIFEHVTQHQFGMD	3016
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V3125M	c.9373G>A	Putative Benign			SIFT: Polyphen: benign