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UniProtKB/Swiss-Prot P48436: Variant p.His169Pro

Transcription factor SOX-9
Gene: SOX9
Variant information

Variant position:  169
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Histidine (H) to Proline (P) at position 169 (H169P, p.His169Pro).
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 medium size and polar (H) to medium size and hydrophobic (P)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In CMD1; decreased 75% transactivational activity.
Any additional useful information about the variant.



Sequence information

Variant position:  169
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:   SEKRPFVEEAERLRVQHKKD  H PDYKYQPRRRKSVKNGQAEA
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                         SEKRPFVEEAERLRVQHKKDHPDYKYQPRRRKSVKNGQAEA

                              SEKRPFVEEAERLRVQHKKDHPDYKYQPRRRKSVKNGQAEA

Rhesus macaque                SEKRPFVEEAERLRVQHKKDHPDYKYQPRRRKSVKNGQAEA

Chimpanzee                    SEKRPFVEEAERLRVQHKKDHPDYKYQPRRRKSVKNGQAEA

Mouse                         SEKRPFVEEAERLRVQHKKDHPDYKYQPRRRKSVKNGQAEA

Rat                           SEKRPFVEEAERLRVQHKKDHPDYKYQPRRRKSVKNGQAEA

Pig                           SEKRPFVEEAERLRVQHKKDHPDYKYQPRRRKSVKNGQAEA

Chicken                       SEKRPFVEEAERLRVQHKKDHPDYKYQPRRRKSVKNGQSEQ

Xenopus tropicalis            GEKRPFVEEAERLRIQHKKDHPDYKYQPRRRKSVKNGQSEQ

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
DNA binding 105 – 173 HMG box
Region 160 – 273 Disordered
Compositional bias 160 – 187 Basic and acidic residues


Literature citations

Campomelic dysplasia: echographic suspicion in the first trimester of pregnancy and final diagnosis of two cases.
Massardier J.; Roth P.; Michel-Calemard L.; Rudigoz R.C.; Bouvier R.; Dijoud F.; Arnould P.; Combourieu D.; Gaucherand P.;
Fetal Diagn. Ther. 24:452-457(2008)
Cited for: VARIANTS CMD1 28-GLU--PRO-509 DEL AND PRO-169;

A novel SOX9 H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome.
Matsushita M.; Kitoh H.; Kaneko H.; Mishima K.; Kadono I.; Ishiguro N.; Nishimura G.;
Am. J. Med. Genet. A 161A:2528-2534(2013)
Cited for: VARIANT CMD1 GLN-169; CHARACTERIZATION OF VARIANT CMD1 GLN-169; CHARACTERIZATION OF VARIANT PRO-169; FUNCTION;

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.