Sequence information
Variant position: 364 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:
QMREEAERTRDELERRLLQM
K EEATMANEALMRSEETADLL
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 QMREEAERTRDELERRLLQMK EEATMANEALMRSEETADLL
Mouse QMREEAERTRDELERRLLQMK EEATMANEALMRSEETADLL
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
Compositional bias
327 – 465
Glu-rich
Alternative sequence
150 – 579
Missing. In isoform 9.
Alternative sequence
260 – 595
Missing. In isoform 7.
Alternative sequence
334 – 379
MERQRLAREKQMREEAERTRDELERRLLQMKEEATMANEALMRSEE -> GQRGRSAEAGPAGSTRGGAKSQAEAPGDCHQAHVPAHEPNSSTVAS. In isoform 10.
Literature citations
Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types.
Bianchi A.B.; Hara T.; Ramesh V.; Gao J.; Klein Szanto A.J.; Morin F.; Menon A.G.; Trofatter J.A.; Gusella J.F.; Seizinger B.R.; Kley N.;
Nat. Genet. 6:185-192(1994)
Cited for: VARIANTS PHE-273 AND ILE-364;
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.