UniProtKB/SwissProt variant VAR

Variant information

Variant position:

391

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 Threonine (T) to Alanine (A) at position 391 (T391A, p.Thr391Ala).

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 (T) to small size and hydrophobic (A)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

0

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:

Bilateral optic nerve hypoplasia (BONH) [MIM:165550]: A congenital anomaly in which the optic disk appears abnormally small. It may be an isolated finding or part of a spectrum of anatomic and functional abnormalities that includes partial or complete agenesis of the septum pellucidum, other midline brain defects, cerebral anomalies, pituitary dysfunction, and structural abnormalities of the pituitary. {ECO:0000269|PubMed:12721955}. 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 BONH.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs121907926 [ dbSNP | Ensembl ]

Sequence information

Variant position:

391

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

Protein sequence length:

422

The length of the canonical sequence.

Location on the sequence:

TYTPPHMQTHMNSQPMGTSG T TSTGLISPGVSVPVQVPGSE

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                         TYTP-----------------------------PHMQTHMNSQPMGTSGTTSTGL----------ISPGVS----------------VPVQVPGSE----

Mouse                         TYTP-----------------------------PHMQTHMN

Rat                           TYTP-----------------------------PHMQTHMN

Bovine                        TYTP-----------------------------PHMQTHMN

Xenopus laevis                TYTP-----------------------------PHMQTHMN

Zebrafish                     TYTP-----------------------------PHMQAHMN

Drosophila                    VLSAYALPPPPMASSSAADSSFSAASSASANVTPHHTIAQE

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	1 – 422	Paired box protein Pax-6
Compositional bias	279 – 422	Pro/Ser/Thr-rich

Literature citations

Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.
Azuma N.; Yamaguchi Y.; Handa H.; Tadokoro K.; Asaka A.; Kawase E.; Yamada M.;
Am. J. Hum. Genet. 72:1565-1570(2003)
Cited for: INVOLVEMENT IN OPTIC-NERVE MALFORMATIONS; VARIANT MORNING GLORY DISK ANOMALY SER-68; VARIANT COLON SER-258; VARIANT COAD SER-258; VARIANT ASGD5 PRO-363; VARIANTS BONH ILE-292; ARG-378; VAL-381 AND ALA-391;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P26367: Variant p.Thr391Ala