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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P48431: Variant p.Trp51Arg

Transcription factor SOX-2
Gene: SOX2
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Variant information Variant position: help 51 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 Tryptophan (W) to Arginine (R) at position 51 (W51R, p.Trp51Arg). 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 (W) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 MCOPS3; uncertain significance. Any additional useful information about the variant.


Sequence information Variant position: help 51 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 317 The length of the canonical sequence.
Location on the sequence: help GGNQKNSPDRVKRPMNAFMV W SRGQRRKMAQENPKMHNSEI 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                         GGNQKNSPDRVKRPMNAFMVWSRGQRRKMAQENPKMHNSEI

Mouse                         GGNQKNSPDRVKRPMNAFMVWSRGQRRKMAQENPKMHNSEI

Sheep                         GGNQKNSPDRVKRPMNAFMVWSRGQRRKMAQENPKMHNSEI

Chicken                       ANNQKNSPDRVKRPMNAFMVWSRGQRRKMAQENPKMHNSEI

Xenopus laevis                NNQNKNSPDRVKRPMNAFMVWSRGQRRKMAQENPKMHNSEI

Xenopus tropicalis            NNQSKNSPDRVKRPMNAFMVWSRGQRRKMAQENPKMHNSEI

Zebrafish                     GNNQKNSPDRIKRPMNAFMVWSRGQRRKMAQENPKMHNSEI

Caenorhabditis elegans        GKDGKKNDDRVKRPMNAFMVWSRGQRKKMALENPKMHNSEI

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 – 317 Transcription factor SOX-2
DNA binding 41 – 109 HMG box
Modified residue 42 – 42 N6-methyllysine
Mutagenesis 42 – 42 K -> R. Loss of interaction with L3MBTL3. Loss of ubiquitination by the CRL4-DCAF5 E3 ubiquitin ligase complex. Loss of interaction with PHF20L1; when associated with R-117.
Helix 47 – 62



Literature citations
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
Chassaing N.; Causse A.; Vigouroux A.; Delahaye A.; Alessandri J.L.; Boespflug-Tanguy O.; Boute-Benejean O.; Dollfus H.; Duban-Bedu B.; Gilbert-Dussardier B.; Giuliano F.; Gonzales M.; Holder-Espinasse M.; Isidor B.; Jacquemont M.L.; Lacombe D.; Martin-Coignard D.; Mathieu-Dramard M.; Odent S.; Picone O.; Pinson L.; Quelin C.; Sigaudy S.; Toutain A.; Thauvin-Robinet C.; Kaplan J.; Calvas P.;
Clin. Genet. 86:326-334(2014)
Cited for: VARIANTS MCOPS3 ARG-51; PRO-74 AND SER-79;
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.