UniProtKB/Swiss-Prot O00255: Variant p.Thr541Ala

Menin
Gene: MEN1
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Variant information Variant position:

541 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Threonine (T) to Alanine (A) at position 541 (T541A, p.Thr541Ala). 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 (T) 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
Other resources:

Links to websites of interest for the variant.

Variant rs2959656 [ dbSNP | Ensembl ]

Sequence information Variant position:

541 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

610 The length of the canonical sequence.
Location on the sequence:

TVAGTARGPEGGSTAQVPAP T ASPPPEGPVLTFQSEKMKGM 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                         TVAGTAR-GPEGGSTAQVPAPTASPPPEGPVLTFQSEKMKGM

                              TVPGTAR-GPEGGSTAPAPAPAASPPPEGPVLTFQSEKMKG

Mouse                         TVPGTTRGGQEVGNAAQAPAPAASPPPEGPVLTFQSEKMKG

Rat                           TVSGTAR-GTEVSSAAQAPAPAASPPPEGPVLTFQSEKMKG

Bovine                        TVPGTAR-GAEGGSAAPVPAPAASPPPEGPVLTFQSEKMKG

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 – 610	Menin
Region	460 – 552	Disordered
Modified residue	543 – 543	Phosphoserine

Literature citations
Positional cloning of the gene for multiple endocrine neoplasia-type 1.
Chandrasekharappa S.C.; Guru S.C.; Manickam P.; Olufemi S.-E.; Collins F.S.; Emmert-Buck M.R.; Debelenko L.V.; Zhuang Z.; Lubensky I.A.; Liotta L.A.; Crabtree J.S.; Wang Y.; Roe B.A.; Weisemann J.; Boguski M.S.; Agarwal S.K.; Kester M.B.; Kim Y.S.; Heppner C.; Dong Q.; Spiegel A.M.; Burns A.L.; Marx S.J.;
Science 276:404-407(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2); VARIANTS MEN1 ARG-22; LYS-119 DEL; GLU-363 DEL AND ARG-436; VARIANTS GLN-171 AND ALA-541; Novel MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1.
Toledo R.A.; Lourenco D.M.; Coutinho F.L.; Quedas E.; Mackowiack I.; Machado M.C.; Montenegro F.; Cunha-Neto M.B.; Liberman B.; Pereira M.A.; Correa P.H.; Toledo S.P.;
Clin. Endocrinol. (Oxf.) 67:377-384(2007)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1); VARIANTS MEN1 89-LEU--ALA-95 DEL; PHE-147; ARG-413; PRO-414 AND CYS-471; VARIANT ALA-541; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3); VARIANT ALA-541; Toward a comprehensive characterization of a human cancer cell phosphoproteome.
Zhou H.; Di Palma S.; Preisinger C.; Peng M.; Polat A.N.; Heck A.J.; Mohammed S.;
J. Proteome Res. 12:260-271(2013)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-543 AND THR-594; VARIANT [LARGE SCALE ANALYSIS] ALA-541; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN1 in Japanese.
Tanaka C.; Yoshimoto K.; Yamada S.; Nishioka H.; Ii S.; Moritani M.; Yamaoka T.; Itakura M.;
J. Clin. Endocrinol. Metab. 83:960-965(1998)
Cited for: VARIANT MEN1 LEU-320; VARIANT ALA-541; Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism.
Teh B.T.; Kytoelae S.; Farnebo F.; Bergman L.; Wong F.K.; Weber G.; Hayward N.; Larsson C.; Skogseid B.; Beckers A.; Phelan C.; Edwards M.; Epstein M.; Alford F.; Hurley D.; Grimmond S.; Silins G.; Walters M.; Stewart C.; Cardinal J.; Khodaei S.; Parente F.; Tranebjaerg L.; Jorde R.; Menon J.; Khir A.; Tan T.T.; Chan S.P.; Zaini A.; Khalid B.A.K.; Sandelin K.; Thompson N.; Brandi M.-L.; Warth M.; Stock J.; Leisti J.; Cameron D.; Shepherd J.J.; Oeberg K.; Nordenskjoeld M.; Salmela P.;
J. Clin. Endocrinol. Metab. 83:2621-2626(1998)
Cited for: VARIANT MEN1 ASN-418; VARIANTS GLN-171 AND ALA-541; Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1).
Hai N.; Aoki N.; Matsuda A.; Mori T.; Kosugi S.;
Eur. J. Endocrinol. 141:475-480(1999)
Cited for: VARIANTS MEN1 ARG-183; ARG-225; TYR-241 AND PRO-253; VARIANT ALA-541; Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.
Poncin J.; Abs R.; Velkeniers B.; Bonduelle M.; Abramowicz M.; Legros J.-J.; Verloes A.; Meurisse M.; van Gaal L.; Verellen C.; Koulischer L.; Beckers A.;
Hum. Mutat. 13:54-60(1999)
Cited for: VARIANTS MEN1 TRP-39; TYR-172; ASP-179 AND PRO-264; VARIANTS GLN-171; PRO-267 AND ALA-541; INVOLVEMENT IN ISOLATED HYPERPARATHYROIDISM; Mutational and gross deletion study of the MEN1 gene and correlation with clinical features in Spanish patients.
Cebrian A.; Ruiz-Llorente S.; Cascon A.; Pollan M.; Diez J.J.; Pico A.; Telleria D.; Benitez J.; Robledo M.;
J. Med. Genet. 40:E72-E72(2003)
Cited for: VARIANTS MEN1 LYS-45 AND PRO-139; VARIANTS GLN-171 AND ALA-541; Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
Gauci S.; Helbig A.O.; Slijper M.; Krijgsveld J.; Heck A.J.; Mohammed S.;
Anal. Chem. 81:4493-4501(2009)
Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-541; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
Mayya V.; Lundgren D.H.; Hwang S.-I.; Rezaul K.; Wu L.; Eng J.K.; Rodionov V.; Han D.K.;
Sci. Signal. 2:RA46-RA46(2009)
Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-541; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

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