Variant position: 289 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 LWLLYDLGHLERYPMALGNL ADLEELEPTPGRPDPLTLYHK
Mouse LWLLYDLGHLERYPMALGNL ADLEELEPTPGRPDPLTLYHK
Rat LWLLYDLGHLERYPMALGNL ADLEELEPTPGRPDPLTLYHK
Bovine LWLLYDLGHLERYPMALGNL ADLEELEPTPGRPDPLTLYHK
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.
290 – 290 D -> R. Reduced interaction with KMT2A; when associated with R-293 and R-295.
293 – 293 E -> R. Reduced interaction with KMT2A; when associated with R-290 and R-295.
295 – 295 E -> R. Reduced interaction with KMT2A; when associated with R-290 and R-293.
282 – 294
Characterization of mutations in patients with multiple endocrine neoplasia type 1.
Bassett J.H.D.; Forbes S.A.; Pannett A.A.J.; Lloyd S.E.; Christie P.T.; Wooding C.; Harding B.; Besser G.M.; Edwards C.R.; Monson J.P.; Sampson J.; Wass J.A.H.; Wheeler M.H.; Thakker R.V.;
Am. J. Hum. Genet. 62:232-244(1998)
Cited for: VARIANTS MEN1 ASP-42; PRO-165; ASP-169; SER-188 AND GLU-289;
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.