Variant position: 1446 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 ILDKKPPPRIERGLKLMSKI LQSIANHVLFTKEEHMRPFND
Mouse ILDKKPPPRIERGLKLMSKV LQSIANHVLFTKEEHMRPFND
Rat ILDKKPPPRIERGLKLMSKV LQSIANHVLFTKEEHMRPFND
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.
A novel mutation L1425P in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE).
Peters H.; Hess D.; Fahsold R.; Schuelke M.;
Hum. Mutat. 13:337-337(1999)
Cited for: VARIANT NF1 PRO-1446;
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;
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
Ars E.; Serra E.; Garcia J.; Kruyer H.; Gaona A.; Lazaro C.; Estivill X.;
Hum. Mol. Genet. 9:237-247(2000)
Cited for: VARIANTS NF1 SER-117; TRP-1204; PRO-1446 AND 2387-ASN-PHE-2388 DEL;
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