Variant position: 538 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 595 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 SMEIEKEKVEYMEKSKHLQE QLNELKTEIEALKLKERETAL
Mouse SMEIEKEKVEYMEKSKHLQE QLNELKTEIEALKLKERETAL
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 – 595 Merlin
518 – 518 Phosphoserine; by PAK
150 – 579 Missing. In isoform 9.
260 – 595 Missing. In isoform 7.
380 – 595 Missing. In isoform 10.
518 – 518 S -> A. Loss of phosphorylation. Significant accumulation in the nucleus and no effect on binding to DCAF1.
518 – 518 S -> D. No effect on phosphorylation. Defective nuclear accumulation. Significant decrease in binding to DCAF1 and in ability to inhibit cell proliferation.
513 – 547
A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2.
Kluwe L.; Mautner V.-F.;
Hum. Genet. 97:224-227(1996)
Cited for: VARIANT NF2 PRO-538;
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