Paralogue Annotation for RYR1 residue 3527

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3527
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3527

No paralogue variants have been mapped to residue 3527 for RYR1.

RYR1	KRRGDRYSVQTSLIVATLKKMLPIGLNMCA>P<TDQDLITLAKTRYALKDTDEEVREFLHNNL	3557
RYR2	KRKGDRYSMQTSLIVAALKRLLPIGLNICA>P<GDQELIALAKNRFSLKDTEDEVRDIIRSNI	3513
RYR3	KRRGDLYSIQTSLIVAALKKMLPIGLNMCT>P<GDQELISLAKSRYSHRDTDEEVREHLRNNL	3414
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P3527S	c.10579C>T	Other Myopathy		rs118192164	SIFT: Polyphen:
Reports		Other Myopathy		A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. Ann Neurol. 2002 51(6):750-9. 12112081