UniProtKB/SwissProt variant VAR

Variant information

Variant position:

176

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 Arginine (R) to Glutamine (Q) at position 176 (R176Q, p.Arg176Gln).

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 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:

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:

Links to websites of interest for the variant.

Variant rs607969 [ dbSNP | Ensembl ]

Sequence information

Variant position:

176

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:

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:

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:

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
Mutagenesis	187 – 187	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-368 DEL AND ARG-441; VARIANTS GLN-176 AND ALA-546;

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-188; VARIANT GLN-176;

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-423; VARIANTS GLN-176 AND ALA-546;

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-177; ASP-184 AND PRO-269; VARIANTS GLN-176; PRO-272 AND ALA-546; 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-176 AND ALA-546;

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-176;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00255: Variant p.Arg176Gln