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UniProtKB/Swiss-Prot P31271: Variant p.Gln371Leu

Homeobox protein Hox-A13
Gene: HOXA13
Chromosomal location: 7p15
Variant information

Variant position:  371
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 Glutamine (Q) to Leucine (L) at position 371 (Q371L, p.Gln371Leu).
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 (Q) to medium size and hydrophobic (L)
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

Involvement in disease:  Guttmacher syndrome (GUTTS) [MIM:176305]: Dominantly inherited combination of distal limb and genital tract abnormalities. It has several features in common with hand-foot-genital syndrome, including hypoplastic first digits and hypospadias. Typical features not seen in hand-foot-genital syndrome include postaxial polydactyly of the hands and uniphalangeal second toes with absent nails. {ECO:0000269|PubMed:11968094}. 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 GUTTS.
Any additional useful information about the variant.



Sequence information

Variant position:  371
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  388
The length of the canonical sequence.

Location on the sequence:   KRRRISATTNLSERQVTIWF  Q NRRVKEKKVINKLKTTS
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                         KRRRISATTNLSERQVTIWFQNRRVKEKKVINKLKTTS

Mouse                         KRRRISATTNLSERQVTIWFQNRRVKEKKVINKLKTTS

Chicken                       KRRRISATTNLSERQVTIWFQNRRVKEKKVINKLKTTS

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 – 388 Homeobox protein Hox-A13
DNA binding 322 – 381 Homeobox
Helix 364 – 377


Literature citations

A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome.
Innis J.W.; Goodman F.R.; Bacchelli C.; Williams T.M.; Mortlock D.P.; Sateesh P.; Scambler P.J.; McKinnon W.; Guttmacher A.E.;
Hum. Mutat. 19:573-574(2002)
Cited for: VARIANT GUTTS LEU-371;

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.