UniProtKB/Swiss-Prot Q9UBX0: Variant p.Arg109Gln

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 109 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: 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: From Arginine (R) to Glutamine (Q) at position 109 (R109Q, p.Arg109Gln). 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 large size and basic (R) to medium size and polar (Q) 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 CPHD5; uncertain significance; loss of DNA binding ability; unable to repress PROP1-mediated activation; no effect on nuclear location; no effect on protein abundance. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs768165720 [ dbSNP | Ensembl ]

Sequence information

Variant position: 109 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 185 The length of the canonical sequence.
Location on the sequence: NYFSASERLSLKRELSWYRG R RPRTAFTQNQIEVLENVFRV 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.
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.

Type	Positions	Description
Chain	1 – 185	Homeobox expressed in ES cells 1
DNA binding	108 – 167	Homeobox

Literature citations

A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes.
Takagi M.; Takahashi M.; Ohtsu Y.; Sato T.; Narumi S.; Arakawa H.; Hasegawa T.;
Endocr. J. 63:405-410(2016)
Cited for: VARIANT CPHD5 GLN-109; CHARACTERIZATION OF VARIANT CPHD5 GLN-109; FUNCTION; DNA-BINDING; SUBCELLULAR LOCATION;