Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00255: Variant p.Cys241Phe

Menin
Gene: MEN1
Feedback?
Variant information Variant position: help 241 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 Cysteine (C) to Phenylalanine (F) at position 241 (C241F, p.Cys241Phe). 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 polar (C) to large size and aromatic (F) 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; loss of interaction with KMT2A and JUND. Any additional useful information about the variant.


Sequence information Variant position: help 241 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 LYLKGSYMRCDRKMEVAFMV C AINPSIDLHTDSLELLQLQQ 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                         LYLKGSYMRCDRKMEVAFMVCAINPSIDLHTDSLELLQLQQ

                              LYLKGSYMRCDRKMEVAFMVCAINPSIDLHTDSLELLQLQQ

Mouse                         LYLKGSYMRCDRKMEVAFMVCAINPSIDLHTDSLELLQLQQ

Rat                           LYLKGSYMRCDRKMEVAFMVCAINPSIDLHTDSLELLQLQQ

Bovine                        LYLKGSYMRCDRKMEVAFMVCAINPSIDLHTDSLELLQLQQ

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
Region 214 – 390 Interaction with FANCD2
Helix 232 – 241



Literature citations
The same pocket in menin binds both MLL and JUND but has opposite effects on transcription.
Huang J.; Gurung B.; Wan B.; Matkar S.; Veniaminova N.A.; Wan K.; Merchant J.L.; Hua X.; Lei M.;
Nature 482:542-546(2012)
Cited for: X-RAY CRYSTALLOGRAPHY (2.50 ANGSTROMS) OF 2-615 IN COMPLEX WITH KMT2A; PSIP1 AND JUND; INTERACTION WITH KMT2A AND JUND; INTERACTION OF KMT2A-MEN1 COMPLEX WITH PSIP1; CHARACTERIZATION OF VARIANTS MEN1 ASP-139; PHE-241; VAL-242; ARG-281 AND ARG-344; CHARACTERIZATION OF VARIANT GLN-284; MUTAGENESIS OF ALA-182; MET-278; ASP-285; GLU-288; GLU-290; TYR-319; TYR-323; GLU-366 AND ASP-370; FUNCTION; 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-165; PRO-223; PHE-241; ARG-281; PRO-311; TYR-317; ASN-418 AND SER-540;
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.