Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21817: Variant p.Tyr1088Cys

Ryanodine receptor 1
Gene: RYR1
Feedback?
Variant information Variant position: help 1088 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Tyrosine (Y) to Cysteine (C) at position 1088 (Y1088C, p.Tyr1088Cys). 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 large size and aromatic (Y) to medium size and polar (C) 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 Found in a family with Samaritan myopathy; likely pathogenic. Any additional useful information about the variant.


Sequence information Variant position: help 1088 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 CDRVRIFRAEKSYTVQSGRW Y FEFEAVTTGEMRVGWARPEL 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                         CDRVRIFRAEKSYTVQSGRWYFEFEAVTTGEMRVGWARPEL

Mouse                         GDRARIFRAEKSYAVQSGRWYFEFEAVTTGEMRVGWARPEL

Rat                           GDRARIFRAEKSYAVQSGRWYFEFEAVTTGR-ELGWARPEL

Pig                           WDRVRIFRAEKSYAVQSGRWYFEFEAVTTGEMRVGWARPEL

Rabbit                        WDRVRIFRAEKSYTVQSGRWYFEFEAVTTGEMRVGWARPEL

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
Topological domain 1 – 4559 Cytoplasmic
Domain 1013 – 1208 B30.2/SPRY 2
Region 841 – 2959 6 X approximate repeats



Literature citations
Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.
Bohm J.; Leshinsky-Silver E.; Vassilopoulos S.; Le Gras S.; Lerman-Sagie T.; Ginzberg M.; Jost B.; Lev D.; Laporte J.;
Acta Neuropathol. 124:575-581(2012)
Cited for: INVOLVEMENT IN SAMARITAN MYOPATHY; VARIANT CYS-1088;
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.