Paralogue Annotation for RYR1 residue 3172

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3172
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3172

No paralogue variants have been mapped to residue 3172 for RYR1.

RYR1	TLFQHIAQHQFGDDVILDDVQVSCYRTLCS>I<YSLGTTKNTYVEKLRPALGECLARLAAAMP	3202
RYR2	SLFEHIGQHQFGEDLILEDVQVSCYRILTS>L<YALGTSKSIYVERQRSALGECLAAFAGAFP	3167
RYR3	SIFEHVTQHQFGMDLLLGDVQISCYHILCS>L<YSLGTGKNIYVERQRPALGECLASLAAAIP	3063
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3172V	c.9514A>G	Putative Benign			SIFT: Polyphen:
p.I3172T	c.9515T>C	Putative Benign			SIFT: Polyphen: