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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35240: Variant p.Phe62Ser

Merlin
Gene: NF2
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Variant information Variant position: help 62 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Phenylalanine (F) to Serine (S) at position 62 (F62S, p.Phe62Ser). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and aromatic (F) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In SWNV; loss of ability to interact with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 62 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 595 The length of the canonical sequence.
Location on the sequence: help KGKDLFDLVCRTLGLRETWF F GLQYTIKDTVAWLKMDKKVL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         KGKDLFDLVCRTLGLRETWFFGLQYTIKDTVAWLKMDKKVL

Mouse                         KGKDLFDLVCRTLGLRETWFFGLQYTIKDTVAWLKMDKKVL
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 595 Merlin
Domain 22 – 311 FERM
Alternative sequence 39 – 121 Missing. In isoform 4 and isoform 10.
Alternative sequence 39 – 80 Missing. In isoform 6.
Mutagenesis 64 – 64 L -> P. Abolishes binding to AGAP2 and interaction with the CUL4A-RBX1-DDB1-VprBP/DCAF1 E3 ubiquitin-protein ligase complex.
Beta strand 62 – 70



Literature citations
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.;
Cell 140:477-490(2010)
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 SWNV 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 SWNV 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 SWNV 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 SWNV SER-62; THR-533 AND MET-579;
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.