Variant position: 847 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 DLSDTDSLQEWINMTGFLCA LGGVCLQQRSNSGLATYSPPM
Mouse DLSDTDSLQEWINMTGFLCA LGGVCLQQRSSSGLATYSPPM
Rat DLSDTDSLQEWINMTGFLCA LGGVCLQQRSSSGLATYSPPM
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
864 – 864 Phosphoserine
552 – 2839 Missing. In isoform 3.
594 – 2839 Missing. In isoform 5.
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
Fahsold R.; Hoffmeyer S.; Mischung C.; Gille C.; Ehlers C.; Kuecuekceylan N.; Abdel-Nour M.; Gewies A.; Peters H.; Kaufmann D.; Buske A.; Tinschert S.; Nuernberg P.;
Am. J. Hum. Genet. 66:790-818(2000)
Cited for: VARIANTS NF1 PRO-216; PRO-357; CYS-491; PRO-549; THR-581; ARG-583; PHE-665; PRO-695; PRO-763; SER-777; LYS-780; PRO-781; PRO-847; SER-1156; PRO-1250; GLN-1276; PRO-1276; PRO-1446; VAL-1605 AND ILE-2507; VARIANT GLU-176;
NF1 gene analysis based on DHPLC.
De Luca A.; Buccino A.; Gianni D.; Mangino M.; Giustini S.; Richetta A.; Divona L.; Calvieri S.; Mingarelli R.; Dallapiccola B.;
Hum. Mutat. 21:171-172(2003)
Cited for: VARIANTS NF1 LYS-780; PRO-847; GLU-848 AND ARG-968; ASN-1444; LEU-1953 DEL AND ARG-2001;
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
De Luca A.; Schirinzi A.; Buccino A.; Bottillo I.; Sinibaldi L.; Torrente I.; Ciavarella A.; Dottorini T.; Porciello R.; Giustini S.; Calvieri S.; Dallapiccola B.;
Hum. Mutat. 23:629-629(2004)
Cited for: VARIANTS NF1 ASN-157; ARG-629; SER-777; LYS-780; ARG-784; PRO-847; GLU-848; ARG-968; ASN-1444; LEU-1953 DEL AND ARG-2001; VARIANT GLU-176;
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.