UniProtKB/SwissProt variant VAR

Variant information

Variant position:

113

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 Leucine (L) to Proline (P) at position 113 (L113P, p.Leu113Pro).

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:

-3

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 ODDD.

Any additional useful information about the variant.

Sequence information

Variant position:

113

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

Protein sequence length:

382

The length of the canonical sequence.

Location on the sequence:

LAHVFYVMRKEEKLNKKEEE L KVAQTDGVNVDMHLKQIEIK

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                         LAHVFYVMRKEEKLNKKEEELKVA-QTDGVNVDMHLKQIEIK

Mouse                         LAHVFYVMRKEEKLNKKEEELKVA-QTDGVNVEMHLKQIEI

Rat                           LAHVFYVMRKEEKLNKKEEELKVA-QTDGVNVEMHLKQIEI

Pig                           LAHVFYVMRKEEKLNKKEEELKVA-QTDGVNVEMHLKQIEI

Bovine                        LAHVFYVMRKEEKLNKKEEELKVVAQTDGANVDMHLKQIEI

Rabbit                        LAHVFYVMRKEEKLNKKEEELKVA-QTDGVNVEMHLKQIEI

Chicken                       LAHVFYVMRKEEKLNKREEELKVV-QNDGVNVDMHLKQIES

Xenopus laevis                LAHVFYLMRKEEKLNRKEEELKMV-QNEGGNVDMHLKQIEI

Zebrafish                     LAHVFYLMRKEEKLNRKEEELKAV-QNDGGDVELHLKKIEL

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	2 – 382	Gap junction alpha-1 protein
Topological domain	98 – 155	Cytoplasmic
Disulfide bond	54 – 192

Literature citations

Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly.
Richardson R.R.; Donnai D.; Meire F.; Dixon M.J.;
J. Med. Genet. 41:60-67(2004)
Cited for: VARIANTS ODDD PRO-27; MET-31; VAL-40; TYR-69; PRO-113; ASN-134; GLN-148 AND HIS-202; VARIANT SDTY3 SER-143;

Clinical and genetic variability of oculodentodigital dysplasia.
Wiest T.; Herrmann O.; Stoegbauer F.; Grasshoff U.; Enders H.; Koch M.J.; Grond-Ginsbach C.; Schwaninger M.;
Clin. Genet. 70:71-72(2006)
Cited for: VARIANTS ODDD GLU-96; PRO-113; ASN-154 AND TYR-220;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P17302: Variant p.Leu113Pro