Paralogue Annotation for RYR1 residue 3122

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3122
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3122

No paralogue variants have been mapped to residue 3122 for RYR1.

RYR1	LRSFFESASEDIEKMVENLRLGKVSQARTQ>V<KGVGQNLTYTTVALLPVLTTLFQHIAQHQF	3152
RYR2	LRAFLDNAAEDLEKTMENLKQGQFTHTRNQ>P<KGVTQIINYTTVALLPMLSSLFEHIGQHQF	3117
RYR3	LRAFFENAAEDLEKTSENLKLGKFTHSRTQ>I<KGVSQNINYTTVALLPILTSIFEHVTQHQF	3013
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V3122L	c.9364G>C	Putative Benign			SIFT: Polyphen: