UniProtKB/SwissProt variant VAR

Variant information

Variant position:

378

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

Type of variant:

US

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 Glutamine (Q) to Arginine (R) at position 378 (Q378R, p.Gln378Arg).

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 large size and basic (R)

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

BLOSUM score:

1

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 optic nerve aplasia.

Any additional useful information about the variant.

Sequence information

Variant position:

378

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:

LPTSPSVNGRSYDTYTPPHM Q THMNSQPMGTSGTTSTGLIS

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                         LPTSP---------------------------------SVNGRSYDTYTP-----------------------------PHMQTHMNSQPMGTSGTTSTGL----------IS

Mouse                         LPTSP---------------------------------SVN

Rat                           LPTSP---------------------------------SVN

Bovine                        LPTSP---------------------------------SVN

Xenopus laevis                LPTSP---------------------------------SVN

Zebrafish                     LPTSP---------------------------------SVN

Drosophila                    MTLRPPPMAPAHHHIVPGDGGRPAGVGLGSGQSANLGASCS

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
Region	345 – 422	Required for suppression of NFATC1-mediated transcription

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.Gln378Arg