Sequence information
Variant position: 330 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:
GIASAKTYYRDEHIYPYMYL
A GYHCRNRNVREALQAWADTA
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 GIASAKTYYRDEHIYPYMYLA GYHCRNRNVREALQAWADTA
GIASAKTYYRDEHIYPYMYLA GYHCRNRNVREALQAWADTA
Mouse GIASAKTYYQDEHIYPYMYLA GYHCRNRNVREALQAWADTA
Rat GIASAKTYYQDEHIYPYMYLA GYHCRNRNVREALQAWADTA
Bovine GIASAKTYYRDEHIYPYMYLA GYHCRNRNVREALQAWADTA
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
324 – 324
Y -> A. Reduced interaction with KMT2A.
Mutagenesis
328 – 328
Y -> A. Reduced interaction with KMT2A.
Helix
324 – 335
Literature citations
Germline mutations of the MEN1 gene in Korean families with multiple endocrine neoplasia type 1 (MEN1) or MEN1-related disorders.
Park J.-H.; Kim I.-J.; Kang H.C.; Lee S.-H.; Shin Y.; Kim K.-H.; Lim S.-B.; Kang S.-B.; Lee K.U.; Kim S.Y.; Lee M.-S.; Lee M.-K.; Park J.-H.; Moon S.-D.; Park J.-G.;
Clin. Genet. 64:48-53(2003)
Cited for: VARIANT MEN1 PRO-330;
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.