UniProtKB/SwissProt variant VAR

Variant information

Variant position:

26

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 Glutamate (E) to Lysine (K) at position 26 (E26K, p.Glu26Lys).

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 acidic (E) to large size and basic (K)

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 parathyroid adenoma and MEN1.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs28931612 [ dbSNP | Ensembl ]

Sequence information

Variant position:

26

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

Protein sequence length:

615

The length of the canonical sequence.

Location on the sequence:

AQKTLFPLRSIDDVVRLFAA E LGREEPDLVLLSLVLGFVEH

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                         AQKTLFPLRSIDDVVRLFAAELGREEPDLVLLSLVLGFVEH

Mouse                         AQKTLFPLRSIDDVVRLFAAELGREEPDLVLLSLVLGFVEH

Rat                           AQKTLFPLRSIDDVVRLFAAELGREEPDLVLLSLVLGFVEH

Bovine                        AQKTLFPLRSIDDVVRLFAAELGREEPDLVLLSLVLGFVEH

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 – 615	Menin
Helix	16 – 27

Literature citations

Somatic mutation of the MEN1 gene in parathyroid tumours.
Heppner C.; Kester M.B.; Agarwal S.K.; Debelenko L.V.; Emmert-Buck M.R.; Guru S.C.; Manickam P.; Olufemi S.-E.; Skarulis M.C.; Doppman J.L.; Alexander R.H.; Kim Y.S.; Saggar S.K.; Lubensky I.A.; Zhuang Z.; Liotta L.A.; Chandrasekharappa S.C.; Collins F.S.; Spiegel A.M.; Burns A.L.; Marx S.J.;
Nat. Genet. 16:375-378(1997)
Cited for: VARIANT PARATHYROID ADENOMA LYS-26;

A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors.
Teh B.T.; Esapa C.T.; Houlston R.; Grandell U.; Farnebo F.; Nordenskjoeld M.; Pearce C.J.; Carmichael D.; Larsson C.; Harris P.E.;
Am. J. Hum. Genet. 63:1544-1549(1998)
Cited for: VARIANT LYS-260; INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM;

MEN1 gene mutations in 12 MEN1 families and their associated tumors.
Bartsch D.; Kopp I.; Bergenfelz A.; Rieder H.; Muench K.; Jaeger K.; Deiss Y.; Schudy A.; Barth P.; Arnold R.; Rothmund M.; Simon B.;
Eur. J. Endocrinol. 139:416-420(1998)
Cited for: VARIANTS MEN1 LYS-26 AND PRO-173;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00255: Variant p.Glu26Lys