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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21817: Variant p.Ala4846Val

Ryanodine receptor 1
Gene: RYR1
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Variant information Variant position: help 4846 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 Alanine (A) to Valine (V) at position 4846 (A4846V, p.Ala4846Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 CMYP1B. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 4846 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 TILSSVTHNGKQLVMTVGLL A VVVYLYTVVAFNFFRKFYNK 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                         TILSSVTHNGKQLVMTVGLLAVVVYLYTVVAFNFFRKFYNK

Mouse                         TILSSVTHNGKQLVMTVGLLAVVVYLYTVVAFNFFRKFYNK

Rat                           TILSSVTHNGKQLVMTVGLLAVVVYLYTVVAFNFFRKFYNK

Pig                           TILSSVTHNGKQLVMTVGLLAVVVYLYTVVAFNFFRKFYNK

Rabbit                        TILSSVTHNGKQLVMTVGLLAVVVYLYTVVAFNFFRKFYNK
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
Transmembrane 4837 – 4857 Helical; Name=5
Modified residue 4864 – 4864 Phosphotyrosine



Literature citations
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1.
Gambelli S.; Malandrini A.; Berti G.; Gaudiano C.; Zicari E.; Brunori P.; Perticoni G.; Orrico A.; Galli L.; Sorrentino V.; Lunardi J.; Federico A.; Dotti M.T.;
Clin. Genet. 71:93-94(2007)
Cited for: VARIANT CMYP1A VAL-4846; Central core disease due to recessive mutations in RYR1 gene: is it more common than described?
Kossugue P.M.; Paim J.F.; Navarro M.M.; Silva H.C.; Pavanello R.C.M.; Gurgel-Giannetti J.; Zatz M.; Vainzof M.;
Muscle Nerve 35:670-674(2007)
Cited for: VARIANTS CMYP1A CYS-4861; HIS-4861; VAL-4897 AND THR-4914; VARIANTS CMYP1B GLN-4558; VAL-4846 AND ILE-4849;
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.