Variant position: 219 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 ARDEAEMEYLKIAQDLEMYG VNYFAIRNKKGTELLLGVDAL
Mouse ARDEAEMEYLKIAQDLEMYG VNYFTIRNKKGTELLLGVDAL
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
22 – 311 FERM
150 – 579 Missing. In isoform 9.
150 – 225 Missing. In isoform 10.
Cloning and characterization of SCHIP-1, a novel protein interacting specifically with spliced isoforms and naturally occurring mutant NF2 proteins.
Goutebroze L.; Brault E.; Muchardt C.; Camonis J.; Thomas G.;
Mol. Cell. Biol. 20:1699-1712(2000)
Cited for: INTERACTION WITH SCHIP1; CHARACTERIZATION OF VARIANTS NF2 PHE-119 DEL; CHARACTERIZATION OF VARIANT MET-219;
Exon scanning for mutation of the NF2 gene in schwannomas.
Jacoby L.B.; Maccollin M.M.; Louis D.N.; Mohney T.; Rubio M.-P.; Pulaski K.; Trofatter J.A.; Kley N.; Seizinger B.R.; Ramesh V.; Gusella J.F.;
Hum. Mol. Genet. 3:413-419(1994)
Cited for: VARIANTS MET-219 AND CYS-418;
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