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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00255: Variant p.Arg171Gln

Menin
Gene: MEN1
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Variant information Variant position: help 171 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Glutamine (Q) at position 171 (R171Q, p.Arg171Gln). 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: help Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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

Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 171 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 610 The length of the canonical sequence.
Location on the sequence: help KLDSSGVAFAVVGACQALGL R DVHLALSEDHAWVVFGPNGE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         KLDSSGVAFAVVGACQALGLRDVHLALSEDHAWVVFGPNGE

                              KLDSSGVAFAVVGACQALGLRDVHLALSEDHAWVVFGPNGE

Mouse                         KLDSSGVAFAVVGACQALGLRDVHLALSEDHAWVVFGPNGE

Rat                           KLDSSGVAFAVVGACQALGLRDVHLALSEDHAWVVFGSNGE

Bovine                        KLDSSGVAFAVVGACQALGLRDVHLALSEDHAWVVFGPNGE

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 610 Menin
Mutagenesis 182 – 182 A -> F. Reduced interaction with KMT2A.



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; Identification of the multiple endocrine neoplasia type 1 (MEN1) gene.
Lemmens I.; Van de Ven W.J.M.; Kas K.; Zhang C.X.; Giraud S.; Wautot V.; Buisson N.; De Witte K.; Salandre J.; Lenoir G.; Pugeat M.; Calender A.; Parente F.; Quincey D.; Gaudray P.; De Wit M.J.; Lips C.J.M.; Hoeppener J.W.M.; Khodaei S.; Grant A.L.; Weber G.; Kytoelae S.; Teh B.T.; Farnebo F.; Phelan C.; Hayward N.; Larsson C.; Pannett A.A.J.; Forbes S.A.; Basset J.H.D.; Thakker R.V.;
Hum. Mol. Genet. 6:1177-1183(1997)
Cited for: VARIANT MEN1 SER-183; VARIANT GLN-171; 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; 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; Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with a novel mutation of the MEN1 gene.
Balogh K.; Patocs A.; Majnik J.; Varga F.; Illyes G.; Hunyady L.; Racz K.;
J. Hum. Genet. 49:380-386(2004)
Cited for: VARIANT GLN-171;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.