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UniProtKB/Swiss-Prot P35453: Variant p.Ile322Leu

Homeobox protein Hox-D13
Gene: HOXD13
Variant information

Variant position:  322
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 Isoleucine (I) to Leucine (L) at position 322 (I322L, p.Ile322Leu).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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 BDE1; decreases the transcriptional activator activity.
Any additional useful information about the variant.

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



Sequence information

Variant position:  322
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  343
The length of the canonical sequence.

Location on the sequence:   NKDKRRRISAATNLSERQVT  I WFQNRRVKDKKIVSKLKDTV
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                         NKDKRRRISAATNLSERQVTIWFQNRRVKDKKIVSKLKDTV

Mouse                         NKDKRRRISAATNLSERQVTIWFQNRRVKDKKIVSKLKDTV

Chicken                       NKDKRRRISAATNLSERQVTIWFQNRRVKDKKIVSKLKDNV

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 – 343 Homeobox protein Hox-D13
DNA binding 276 – 335 Homeobox


Literature citations

Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.
Johnson D.; Kan S.H.; Oldridge M.; Trembath R.C.; Roche P.; Esnouf R.M.; Giele H.; Wilkie A.O.;
Am. J. Hum. Genet. 72:984-997(2003)
Cited for: VARIANTS BDE1 CYS-316 AND LEU-322; VARIANT BDD CYS-316;

Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families.
Dai L.; Liu D.; Song M.; Xu X.; Xiong G.; Yang K.; Zhang K.; Meng H.; Guo H.; Bai Y.;
PLoS ONE 9:E96192-E96192(2014)
Cited for: VARIANTS SPD1 GLN-306 AND GLY-306; CHARACTERIZATION OF VARIANTS SPD1 GLN-306 AND GLY-306; CHARACTERIZATION OF VARIANT BDE1 LEU-322; FUNCTION; SUBCELLULAR LOCATION;

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.