Sequence information
Variant position: 77 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:
RETWFFGLQYTIKDTVAWLK
M DKKVLDHDVSKEEPVTFHFL
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 RETWFFGLQYTIKDTVAWLKM DKKVLDHDVSKEEPVTFHFL
Mouse RETWFFGLQYTIKDTVAWLKM DKKVLDHDVSKEEPVTFHFL
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
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
77 – 80
Literature citations
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;
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.