Paralogue Annotation for RYR1 residue 3474

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3474
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3474

No paralogue variants have been mapped to residue 3474 for RYR1.

RYR1	YWSKSHNFKREEQNFVVQNEINNMSFLTAD>N<KSKMAKAGDIQSGGSDQERTKKKRRGDRYS	3504
RYR2	YWSKSHNFKREEQNFVVQNEINNMSFLITD>T<KSKMSKAA-----VSDQERKKMKRKGDRYS	3460
RYR3	LWCKSHNFKREEQNFVIQNEINNLAFLTGD>S<KSKMSKAMQVKSGGQDQERKKTKRRGDLYS	3361
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N3474K	c.10422C>G	Putative Benign			SIFT: Polyphen: