UniProtKB/SwissProt variant VAR

Variant information

Variant position:

270

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 Glutamine (Q) to Arginine (R) at position 270 (Q270R, p.Gln270Arg).

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

Involvement in disease:

Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470]: A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms. {ECO:0000269|PubMed:11297621}. Note=Disease susceptibility is associated with variations 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 NMTC2.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs104894171 [ dbSNP | Ensembl ]

Sequence information

Variant position:

270

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

Protein sequence length:

487

The length of the canonical sequence.

Location on the sequence:

EAFKTGPEMQNILKKVAATL Q VPVNDLNADLIQVAFFTCSF

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                         EAFKTGPEMQNILKKVAATLQVP-VNDLNADLIQVAFFTCSF

Mouse                         EAFKTGPEMQKVLKKVAATLQVP-MNSLNADLIQVAFFTCS

Rat                           EAFKTGPEMQTVLKKVAATLQVP-VNNLNADLIQVAFFTCS

Chicken                       NAFKEGPEMRKVLEKVASALCLP-ASELNADLVQVAFLTCS

Drosophila                    --FHQSKLYNDTLADISTRLGF--LYTLEEADIKLMYDMCR

Slime mold                    MVF------PNISNEISERLGLSDIWLPTSNVISDIFEACA

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	31 – 487	Multiple inositol polyphosphate phosphatase 1

Literature citations

Somatic mutation and germline variants of MINPP1, a phosphatase gene located in proximity to PTEN on 10q23.3, in follicular thyroid carcinomas.
Gimm O.; Chi H.; Dahia P.L.; Perren A.; Hinze R.; Komminoth P.; Dralle H.; Reynolds P.R.; Eng C.;
J. Clin. Endocrinol. Metab. 86:1801-1805(2001)
Cited for: INVOLVEMENT IN NMTC2; VARIANTS NMTC2 LEU-41 AND ARG-270;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UNW1: Variant p.Gln270Arg