UniProtKB/SwissProt variant VAR

Variant information

Variant position:

59

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 Proline (P) to Histidine (H) at position 59 (P59H, p.Pro59His).

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 hydrophobic (P) to medium size and polar (H)

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 ODDD.

Any additional useful information about the variant.

Sequence information

Variant position:

59

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:

TAVESAWGDEQSAFRCNTQQ P GCENVCYDKSFPISHVRFWV

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                         TAVESAWGDEQSAFRCNTQQPGCENVCYDKSFPISHVRFWV

Mouse                         TAVESAWGDEQSAFRCNTQQPGCENVCYDKSFPISHVRFWV

Rat                           TAVESAWGDEQSAFRCNTQQPGCENVCYDKSFPISHVRFWV

Pig                           TAVESAWGDEQSAFRCNTQQPGCENVCYDKSFPISHVRFWV

Bovine                        TAVESAWGDEQSAFRCNTQQPGCENVCYDKSFPISHVRFWV

Rabbit                        TAVESAWGDEQSAFRCNTQQPGCENVCYDKSFPISHVRFWV

Chicken                       TAVESAWGDEQSAFRCNTQQPGCENVCYDKSFPISHVRFWV

Xenopus laevis                TAVESAWGDEQSAFVCNTQQPGCENVCYDKSFPISHVRFWV

Zebrafish                     TAVESAWGDEQSAFKCNTQQPGCENVCYDKSFPISHVRFWV

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	45 – 76	Extracellular
Disulfide bond	54 – 192

Literature citations

A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia.
Vasconcellos J.P.C.; Melo M.B.; Schimiti R.B.; Bressanim N.C.; Costa F.F.; Costa V.P.;
Arch. Ophthalmol. 123:1422-1426(2005)
Cited for: VARIANT ODDD HIS-59;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P17302: Variant p.Pro59His