Variant position: 269 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:
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 NPSIDLHTDSLELLQLQQKL LWLLYDLGHLERYPMALGNLA
Mouse NPSIDLHTDSLELLQLQQKL LWLLYDLGHLERYPMALGNLA
Rat NPSIDLHTDSLELLQLQQKL LWLLYDLGHLERYPMALGNLA
Bovine NPSIDLHTDSLELLQLQQKL LWLLYDLGHLERYPMALGNLA
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
1 – 615 Menin
219 – 395 Interaction with FANCD2
283 – 283 M -> W. Loss of interaction with KMT2A and JUND.
259 – 275
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;
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.