Variant position: 62 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 KGKDLFDLVCRTLGLRETWF FGLQYTIKDTVAWLKMDKKVL
Mouse KGKDLFDLVCRTLGLRETWF FGLQYTIKDTVAWLKMDKKVL
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
39 – 121 Missing. In isoform 4 and isoform 10.
39 – 80 Missing. In isoform 6.
64 – 64 L -> P. Abolishes binding to AGAP2 and interaction with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex.
62 – 68
Merlin/NF2 suppresses tumorigenesis by inhibiting the E3 ubiquitin ligase CRL4(DCAF1) in the nucleus.
Li W.; You L.; Cooper J.; Schiavon G.; Pepe-Caprio A.; Zhou L.; Ishii R.; Giovannini M.; Hanemann C.O.; Long S.B.; Erdjument-Bromage H.; Zhou P.; Tempst P.; Giancotti F.G.;
Cited for: FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH DCAF1 AND THE CUL4A-RBX1-DDB1-VPRBP/DCAF1 E3 UBIQUITIN-PROTEIN LIGASE COMPLEX; PHOSPHORYLATION; MUTAGENESIS OF LEU-64 AND SER-518; CHARACTERIZATION OF VARIANT ARG-46; CHARACTERIZATION OF VARIANTS NF2 SER-62 AND PRO-141;
Germline mutations in the neurofibromatosis type 2 tumour suppressor gene.
Bourn D.; Carter S.A.; Mason S.; Gareth D.; Evans R.; Strachan T.;
Hum. Mol. Genet. 3:813-816(1994)
Cited for: VARIANTS NF2 SER-62; GLY-106 AND MET-352;
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.
Evans D.G.R.; Trueman L.; Wallace A.; Collins S.; Strachan T.;
J. Med. Genet. 35:450-455(1998)
Cited for: VARIANTS NF2 SER-62; VAL-77; GLY-106; MET-352; GLU-413 AND PRO-535;
Detection of novel NF2 mutations by an RNA mismatch cleavage method.
Faudoa R.; Xue Z.; Lee F.; Baser M.E.; Hung G.;
Hum. Mutat. 15:474-478(2000)
Cited for: VARIANTS NF2 SER-62; THR-533 AND MET-579;
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