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UniProtKB/Swiss-Prot O00255: Variant p.Asp423Asn

Menin
Gene: MEN1
Variant information

Variant position:  423
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 Aspartate (D) to Asparagine (N) at position 423 (D423N, p.Asp423Asn).
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 (D) to medium size and polar (N)
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 MEN1.
Any additional useful information about the variant.

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



Sequence information

Variant position:  423
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:   QSQGSALQDPECFAHLLRFY  D GICKWEEGSPTPVLHVGWAT
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                         QSQGSALQDPECFAHLLRFYDGICKWEEGSPTPVLHVGWAT

                              QSQGSALQDPECFAHLLRFYDGICKWEEGSPTPVLHVGWAT

Mouse                         QGQGSALQDPECFAHLLRFYDGICKWEEGSPTPVLHVGWAT

Rat                           QGQGSALQDPECFAHLLRFYDGICKWEEGSPTPVLHVGWAT

Bovine                        QSQGSALQDPECFAHLLRFYDGICKWEEGSPTPVLHVGWAT

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.

TypePositionsDescription
Chain 1 – 615 Menin
Helix 412 – 429


Literature citations

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;

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-165; THR-165; PHE-167; ASP-169; ARG-170; TYR-177; PRO-228; PHE-245; ARG-286; PRO-316; PRO-319; TYR-322; ARG-322; ASP-342; ARG-346; HIS-362; ASP-373; MET-377; ASN-423; CYS-532; ASN-560 AND ARG-560;

Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.
Turner J.J.O.; Leotlela P.D.; Pannett A.A.J.; Forbes S.A.; Bassett J.H.D.; Harding B.; Christie P.T.; Bowen-Jones D.; Ellard S.; Hattersley A.; Jackson C.E.; Pope R.; Quarrell O.W.; Trembath R.; Thakker R.V.;
J. Clin. Endocrinol. Metab. 87:2688-2693(2002)
Cited for: VARIANTS MEN1 LYS-119 DEL; ILE-159; GLU-368 DEL AND ASN-423;

Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis.
Crepin M.; Escande F.; Pigny P.; Buisine M.-P.; Calender A.; Porchet N.; Odou M.-F.;
Electrophoresis 24:26-33(2003)
Cited for: VARIANTS MEN1 ARG-170; PRO-228; PHE-246; ARG-286; PRO-316; TYR-322; ASN-423 AND SER-545;

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.