Paralogue Annotation for RYR1 residue 3484

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3484
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3484

No paralogue variants have been mapped to residue 3484 for RYR1.

RYR1	EEQNFVVQNEINNMSFLTADNKSKMAKAGD>I<QSGGSDQERTKKKRRGDRYSVQTSLIVATL	3514
RYR2	EEQNFVVQNEINNMSFLITDTKSKMSKAA->-<---VSDQERKKMKRKGDRYSMQTSLIVAAL	3470
RYR3	EEQNFVIQNEINNLAFLTGDSKSKMSKAMQ>V<KSGGQDQERKKTKRRGDLYSIQTSLIVAAL	3371
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3484V	c.10450A>G	Putative Benign			SIFT: Polyphen:
p.I3484T	c.10451T>C	Putative Benign			SIFT: Polyphen:
p.I3484M	c.10452A>G	Putative Benign			SIFT: Polyphen: