Variant position: 508 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2839 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 SYKYLLLSMVKLIHADPKLL LCNPRKQGPETQGSTAELITG
Mouse SYKCLLLSMVKLIHADPKLL LCNPRKQGPETQSSTAELITG
Rat SYKYLLLSMVKLIHADPKLL LCNPRKQGPETQGSTAELITG
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
2 – 2839 Neurofibromin
2 – 1305 Neurofibromin truncated
Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.
Messiaen L.M.; Callens T.; Roux K.J.; Mortier G.R.; De Paepe A.; Abramowicz M.; Pericak-Vance M.A.; Vance J.M.; Wallace M.R.;
Genet. Med. 1:248-253(1999)
Cited for: VARIANT NF1 PRO-508;
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