Paralogue Annotation for RYR1 residue 3501

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3501
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3501

No paralogue variants have been mapped to residue 3501 for RYR1.

RYR1	TADNKSKMAKAGDIQSGGSDQERTKKKRRG>D<RYSVQTSLIVATLKKMLPIGLNMCAPTDQD	3531
RYR2	ITDTKSKMSKAA-----VSDQERKKMKRKG>D<RYSMQTSLIVAALKRLLPIGLNICAPGDQE	3487
RYR3	TGDSKSKMSKAMQVKSGGQDQERKKTKRRG>D<LYSIQTSLIVAALKKMLPIGLNMCTPGDQE	3388
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D3501Y	c.10501G>T	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families. Clin Genet. 2011 79(5):438-47. doi: 10.1111/j.1399-0004.2010.01493. 20681998