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UniProtKB/Swiss-Prot Q969G2: Variant p.Ala210Pro

LIM/homeobox protein Lhx4
Gene: LHX4
Chromosomal location: 1q25.2
Variant information

Variant position:  210
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 implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Alanine (A) to Proline (P) at position 210 (A210P, p.Ala210Pro).
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 hydrophobic (P)
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

Involvement in disease:  Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700]: Combined pituitary hormone deficiency is defined as the impaired production of growth hormone and one or more of the other five anterior pituitary hormones. CPHD4 is characterized by complete or partial deficiencies of growth hormone, thyroid-stimulating hormone, luteinizing hormone, follicle stimulating hormone and adrenocorticotropic hormone. Clinical features include short stature, cerebellar defects, and small sella turcica. {ECO:0000269|PubMed:17527005, ECO:0000269|PubMed:18073311}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In CPHD4; the mutant protein is inactive in DNA binding and pituitary gene activation assays.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  210
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  390
The length of the canonical sequence.

Location on the sequence:   LSSETGLDMRVVQVWFQNRR  A KEKRLKKDAGRHRWGQFYKS
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                         LSSETGLDMRVVQVWFQNRRAKEKRLKKDAGRHRWGQFYKS

Mouse                         LSSETGLDMRVVQVWFQNRRAKEKRLKKDAGRHRWGQFYKS

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 – 390 LIM/homeobox protein Lhx4
DNA binding 157 – 216 Homeobox
Region 199 – 211 Interaction with 5-mCpG DNA
Helix 198 – 214


Literature citations

Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.
Pfaeffle R.W.; Hunter C.S.; Savage J.J.; Duran-Prado M.; Mullen R.D.; Neeb Z.P.; Eiholzer U.; Hesse V.; Haddad N.G.; Stobbe H.M.; Blum W.F.; Weigel J.F.W.; Rhodes S.J.;
J. Clin. Endocrinol. Metab. 93:1062-1071(2008)
Cited for: VARIANTS CPHD4 CYS-84; ARG-190 AND PRO-210; CHARACTERIZATION OF VARIANTS CPHD4 CYS-84; ARG-190 AND PRO-210;

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.