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:
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 GIASAKTYYRDEHIYPYMYL AGYHCRNRNVREALQAWADTA
Mouse GIASAKTYYQDEHIYPYMYL AGYHCRNRNVREALQAWADTA
Rat GIASAKTYYQDEHIYPYMYL AGYHCRNRNVREALQAWADTA
Bovine GIASAKTYYRDEHIYPYMYL AGYHCRNRNVREALQAWADTA
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
324 – 324 Y -> A. Reduced interaction with KMT2A.
328 – 328 Y -> A. Reduced interaction with KMT2A.
324 – 335
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;
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