UniProtKB/SwissProt variant VAR

Variant information

Variant position:

82

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 Cysteine (C) to Arginine (R) at position 82 (C82R, p.Cys82Arg).

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 (C) to large size and basic (R)

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

Involvement in disease:

Hyperphenylalaninemia, BH4-deficient, D (HPABH4D) [MIM:264070]: An autosomal recessive disease characterized by primapterinuria, a variant form of hyperphenylalaninemia defined by increased excretion of 7-substituted pterins in the urine. Patients with primapterinuria show an increased ratio of neopterin to biopterin in the urine, excretion of subnormal levels of biopterins, and normal levels of biogenic amines in cerebrospinal fluid. Neurologic signs are mild, present in the neonatal period only, and include hypotonia, delayed motor development and tremor. {ECO:0000269|PubMed:8352282, ECO:0000269|PubMed:9760199}. 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 HPABH4D; mild form.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs104894177 [ dbSNP | Ensembl ]

Sequence information

Variant position:

82

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

Protein sequence length:

104

The length of the canonical sequence.

Location on the sequence:

HHPEWFNVYNKVHITLSTHE C AGLSERDINLASFIEQVAVS

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                         HHPEWFNVYNKVHITLSTHEC-------AGLSERDINLASFIEQVAVS

Mouse                         HHPEWFNVYNKVHITLSTHEC-------AGLSERDINLASF

Rat                           HHPEWFNVYNKVHITLSTHEC-------AGLSERDINLASF

Bovine                        HHPEWFNVYNKVHITLSTHEC-------AGLSERDVNLASF

Chicken                       HHPEWFNVYNKVHITLSTHEC-------TGLSERDINLASF

Xenopus laevis                HHPEWFNVYDKVHITLSTHDC-------GGLSERDINLASF

Caenorhabditis elegans        HHPEWFNVYNKVDITLSTHDC-------GGLSPNDVKLATF

Drosophila                    HHPEWFNCYNKVDVTLSTHDV-------GGLSSQDIRMATH

Slime mold                    HHPEWFNVYNRVEITLATHDC-------SGLSVNDTKMADI

Baker's yeast                 HHPLIHTSYTWVKLELHTHDIDPKDGAHSQLSDIDVRMAKR

Fission yeast                 HHPEWTNVYNKVDITLTTHDT-------KGLTEKDLKLAEF

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 – 104	Pterin-4-alpha-carbinolamine dehydratase

Literature citations

Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism.
Citron B.A.; Kaufman S.; Milstien S.; Naylor E.W.; Greene C.L.; Davis M.D.;
Am. J. Hum. Genet. 53:768-774(1993)
Cited for: VARIANT HPABH4D ARG-82;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P61457: Variant p.Cys82Arg