Sequence information
Variant position: 291 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:
LLYDLGHLERYPMALGNLAD
L EELEPTPGRPDPLTLYHKGI
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 LLYDLGHLERYPMALGNLADL EELEPTPGRPDPLTLYHKGI
Mouse LLYDLGHLERYPMALGNLADL EELEPTPGRPDPLTLYHKGI
Rat LLYDLGHLERYPMALGNLADL EELEPTPGRPDPLTLYHKGI
Bovine LLYDLGHLERYPMALGNLADL EELEPTPGRPDPLTLYHKGI
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
Region
219 – 395
Interaction with FANCD2
Mutagenesis
283 – 283
M -> W. Loss of interaction with KMT2A and JUND.
Mutagenesis
290 – 290
D -> R. Reduced interaction with KMT2A; when associated with R-293 and R-295.
Mutagenesis
293 – 293
E -> R. Reduced interaction with KMT2A; when associated with R-290 and R-295.
Mutagenesis
295 – 295
E -> R. Reduced interaction with KMT2A; when associated with R-290 and R-293.
Helix
282 – 294
Literature citations
Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription.
Agarwal S.K.; Guru S.C.; Heppner C.; Erdos M.R.; Collins R.M.; Park S.Y.; Saggar S.; Chandrasekharappa S.C.; Collins F.S.; Spiegel A.M.; Marx S.J.; Burns A.L.;
Cell 96:143-152(1999)
Cited for: INTERACTION WITH JUND; VARIANTS MEN1 LEU-12; ARG-22; ASP-139; TYR-139; PRO-165; PRO-181; VAL-247; PRO-291; PRO-314; ARG-349 AND ARG-441;
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.