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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P48436: Variant p.Met113Val

Transcription factor SOX-9
Gene: SOX9
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Variant information Variant position: help 113 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 Methionine (M) to Valine (V) at position 113 (M113V, p.Met113Val). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 CMD1; residual DNA binding and transactivation of regulated genes. Any additional useful information about the variant.


Sequence information Variant position: help 113 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 509 The length of the canonical sequence.
Location on the sequence: help VRVNGSSKNKPHVKRPMNAF M VWAQAARRKLADQYPHLHNA 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                         VRVNGSSKNKPHVKRPMNAFMVWAQAARRKLADQYPHLHNA

                              VRVNGSSKNKPHVKRPMNAFMVWAQAARRKLADQYPHLHNA

Rhesus macaque                VRVNGSSKNKPHVKRPMNAFMVWAQAARRKLADQYPHLHNA

Chimpanzee                    VRVNGSSKNKPHVKRPMNAFMVWAQAARRKLGDQYPHLHNA

Mouse                         VRVNGSSKNKPHVKRPMNAFMVWAQAARRKLADQYPHLHNA

Rat                           VRVNGSSKNKPHVKRPMNAFMVWAQAARRKLADQYPHLHNA

Pig                           VRVNGSSKNKPHVKRPMNAFMVWAQAARRKLADQYPHLHNA

Chicken                       VRVNGSSKNKPHVKRPMNAFMVWAQAARRKLADQYPHLHNA

Xenopus tropicalis            VRVNGSSKSKPHVKRPMNAFMVWAQAARRKLADQYPHLHNA
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 – 509 Transcription factor SOX-9
DNA binding 105 – 173 HMG box
Helix 111 – 126



Literature citations
Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.
Staffler A.; Hammel M.; Wahlbuhl M.; Bidlingmaier C.; Flemmer A.W.; Pagel P.; Nicolai T.; Wegner M.; Holzinger A.;
Hum. Mutat. 31:E1436-E1444(2010)
Cited for: VARIANTS CMD1 VAL-113 AND GLN-165; CHARACTERIZATION OF VARIANTS CMD1 VAL-113 AND GLN-165;
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.