Paralogue Annotation for RYR1 residue 2148

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2148
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2148

No paralogue variants have been mapped to residue 2148 for RYR1.

RYR1	RAMFSLLHRQYDGLGELLRALPRAYTISPS>S<VEDTMSLLECLGQIRSLLIVQMGPQEENLM	2178
RYR2	RAMFVLLHRQYDGIGGLVRALPKTYTINGV>S<VEDTINLLASLGQIRSLLSVRMGKEEEKLM	2142
RYR3	RMMFNLLRRQYDSIGELLQALRKTYTISHT>S<VSDTINLLAALGQIRSLLSVRMGKEEELLM	2040
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S2148F	c.6443C>T	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Diagnosis and etiology of congenital muscular dystrophy: We are halfway there. Ann Neurol. 2016 80(1):101-11. doi: 10.1002/ana.24687. 27159402