UniProtKB/SwissProt variant VAR

Variant information

Variant position:

464

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 Glycine (G) to Alanine (A) at position 464 (G464A, p.Gly464Ala).

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 glycine (G) 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

Variant description:

In LPRD1.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs121918469 [ dbSNP | Ensembl ]

Sequence information

Variant position:

464

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

Protein sequence length:

593

The length of the canonical sequence.

Location on the sequence:

HKQESIMDAGPVVVHCSAGI G RTGTFIVIDILIDIIREKGV

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                         HKQESIMDAGPVVVHCSAGIGRTGTFIVIDILIDIIREKGV

Mouse                         HKQESIVDAGPVVVHCSAGIGRTGTFIVIDILIDIIREKGV

Rat                           HKQESIVDAGPVVVHCSAGIGRTGTFIVIDILIDIIREKGV

Chicken                       HKQESISDAGPVVVHCSAGIGRTGTFIVIDILIDIIREKGV

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 – 593	Tyrosine-protein phosphatase non-receptor type 11
Domain	247 – 517	Tyrosine-protein phosphatase
Active site	459 – 459	Phosphocysteine intermediate
Binding site	459 – 465
Alternative sequence	460 – 460	S -> R. In isoform 3.
Alternative sequence	461 – 593	Missing. In isoform 3.
Mutagenesis	459 – 459	C -> S. Abolishes phosphatase activity. Enhances interaction with NEDD9.
Helix	464 – 482

Literature citations

Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.
Yoshida R.; Nagai T.; Hasegawa T.; Kinoshita E.; Tanaka T.; Ogata T.;
Am. J. Med. Genet. A 130:432-434(2004)
Cited for: VARIANTS LPRD1 THR-461 AND ALA-464;

Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.
Sarkozy A.; Conti E.; Digilio M.C.; Marino B.; Morini E.; Pacileo G.; Wilson M.; Calabro R.; Pizzuti A.; Dallapiccola B.;
J. Med. Genet. 41:E68-E68(2004)
Cited for: VARIANTS LPRD1 CYS-279; SER-279; ALA-464; MET-468; TRP-498; LEU-498 AND PRO-506;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q06124: Variant p.Gly464Ala