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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21817: Variant p.Gly4899Glu

Ryanodine receptor 1
Gene: RYR1
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Variant information Variant position: help 4899 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Glycine (G) to Glutamate (E) at position 4899 (G4899E, p.Gly4899Glu). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from glycine (G) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In CMYP1A. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 4899 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 5038 The length of the canonical sequence.
Location on the sequence: help DMMTCYLFHMYVGVRAGGGI G DEIEDPAGDEYELYRVVFDI The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         DMMTCYLFHMYVGVRAGGGIGDEIEDPAGDEYELYRVVFDI

Mouse                         DMMTCYLFHMYVGVRAGGGIGDEIEDPAGDEYELYRVVFDI

Rat                           DMMTCYLFHMYVGVRAGGGIGDEIEDPAGDEYELYRVVFDI

Pig                           DMMTCYLFHMYVGVRAGGGIGDEIEDPAGDEYELYRVVFDI

Rabbit                        DMMTCYLFHMYVGVRAGGGIGDEIEDPAGDEYELYRVVFDI
Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
TypePositionsDescription
Chain 1 – 5038 Ryanodine receptor 1
Intramembrane 4881 – 4900 Pore-forming
Motif 4895 – 4901 Selectivity filter



Literature citations
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.
Monnier N.; Romero N.B.; Lerale J.; Landrieu P.; Nivoche Y.; Fardeau M.; Lunardi J.;
Hum. Mol. Genet. 10:2581-2592(2001)
Cited for: VARIANTS CMYP1A MET-2168; 4214-ARG--PHE-4216 DEL; 4647-LEU-SER-4648 DEL; PRO-4793; CYS-4796; CYS-4825; PHE-4860 DEL; HIS-4861; TRP-4893; THR-4898; GLU-4899 AND GLY-4914; Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.
Romero N.B.; Monnier N.; Viollet L.; Cortey A.; Chevallay M.; Leroy J.P.; Lunardi J.; Fardeau M.;
Brain 126:2341-2349(2003)
Cited for: VARIANTS CMYP1A CYS-614 AND GLU-4899; VARIANTS CMYP1B GLU-215; PRO-4650 AND GLN-4724;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.