UniProtKB/Swiss-Prot P48436: Variant p.Ala76Glu

Transcription factor SOX-9
Gene: SOX9
Chromosomal location: 17q24.1-q25.3
Variant information

Variant position:  76
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Alanine (A) to Glutamate (E) at position 76 (A76E, p.Ala76Glu).
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:  Change from small size and hydrophobic (A) to medium size and acidic (E)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In CMD1; dimerization and the resulting capacity to activate promoters via dimeric binding sites is lost; other features of the protein function remain unaltered.
Any additional useful information about the variant.



Sequence information

Variant position:  76
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  509
The length of the canonical sequence.

Location on the sequence:   GEPDLKKESEEDKFPVCIRE  A VSQVLKGYDWTLVPMPVRVN
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         GEPDLKKESEEDKFPVCIREAVSQVLKGYDWTLVPMPVRVN

Rhesus macaque                GEPDLKKESEEDKFPVCIREAVSQVLKGYDWTLVPMPVRVN

Chimpanzee                    GEPDLKKESEEDKFPVCIREAVSQVLKGYDWTLVPMPVRVN

Mouse                         GEPDLKKESEEDKFPVCIREAVSQVLKGYDWTLVPMPVRVN

Pig                           GEPDLKKESEEDKFPVCIREAVSQVLKGYDWTLVPMPVRVN

Dog                           GEPDLKKESEEDKFPVCIREAVSQVLKGYDWTLVPMPVRVN

Chicken                       GDPDLKKESDEDKFPVCIREAVSQVLKGYDWTLVPMPVRVN

Xenopus tropicalis            GDPELKKETEDEKFPVCIREAVSQVLKGYDWTLVPMPVRVN

Sequence annotation in neighborhood:  
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


Literature citations

Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.
Sock E.; Pagon R.A.; Keymolen K.; Lissens W.; Wegner M.; Scherer G.;
Hum. Mol. Genet. 12:1439-1447(2003)
Cited for: VARIANT CMD1 GLU-76;

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.