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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00255: Variant p.Leu39Trp

Gene: MEN1
Variant information Variant position: help 39 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Leucine (L) to Tryptophan (W) at position 39 (L39W, p.Leu39Trp). 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 medium size and hydrophobic (L) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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: help In MEN1. Any additional useful information about the variant.

Sequence information Variant position: help 39 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 VVRLFAAELGREEPDLVLLS L VLGFVEHFLAVNRVIPTNVP 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.





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.
Chain 1 – 610 Menin
Helix 34 – 49

Literature citations
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; Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding.
Roijers J.F.M.; de Wit M.J.; van der Luijt R.B.; Ploos van Amstel H.K.; Hoeppener J.W.M.; Lips C.J.M.;
Eur. J. Clin. Invest. 30:487-492(2000)
Cited for: VARIANTS MEN1 TRP-39; LYS-119 DEL; GLN-179; PRO-223; ARG-317; PRO-337; ASN-348; VAL-385 AND SER-544; Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein.
Wautot V.; Vercherat C.; Lespinasse J.; Chambe B.; Lenoir G.M.; Zhang C.X.; Porchet N.; Cordier M.; Beroud C.; Calender A.;
Hum. Mutat. 20:35-47(2002)
Cited for: VARIANTS MEN1 TRP-39; ASP-42; LEU-98; PRO-160; THR-160; PHE-162; ASP-164; ARG-165; TYR-172; PRO-223; PHE-240; ARG-281; PRO-311; PRO-314; TYR-317; ARG-317; ASP-337; ARG-341; HIS-357; ASP-368; MET-372; ASN-418; CYS-527; ASN-555 AND ARG-555;
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.