Variant position: 1444 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 AGILDKKPPPRIERGLKLMS KILQSIANHVLFTKEEHMRPF
Mouse AGILDKKPPPRIERGLKLMS KVLQSIANHVLFTKEEHMRPF
Rat AGILDKKPPPRIERGLKLMS KVLQSIANHVLFTKEEHMRPF
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.
Somatic mutations in the neurofibromatosis 1 gene in human tumors.
Li Y.; Bollag G.; Clark R.; Stevens J.; Conroy L.; Fults D.; Ward K.; Friedman E.; Samowitz W.; Robertson M.; Bradley P.; McCormick F.; White R.; Cawthon R.M.;
Cited for: VARIANT GLU-1444;
Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene.
Upadhyaya M.; Osborn M.J.; Maynard J.; Kim M.R.; Tamanoi F.; Cooper D.N.;
Hum. Genet. 99:88-92(1997)
Cited for: VARIANTS NF1 SER-1412; GLN-1440; GLU-1444 AND GLY-1489;
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.
Kluwe L.; Friedrich R.E.; Korf B.; Fahsold R.; Mautner V.-F.;
Hum. Mutat. 19:309-309(2002)
Cited for: VARIANTS NF1 PHE-82; ARG-784 AND GLU-1444;
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
De Luca A.; Bottillo I.; Sarkozy A.; Carta C.; Neri C.; Bellacchio E.; Schirinzi A.; Conti E.; Zampino G.; Battaglia A.; Majore S.; Rinaldi M.M.; Carella M.; Marino B.; Pizzuti A.; Digilio M.C.; Tartaglia M.; Dallapiccola B.;
Am. J. Hum. Genet. 77:1092-1101(2005)
Cited for: VARIANTS NFNS ARG-194; GLU-1444; THR-1451; LEU-1453 AND GLU-1459 DEL;
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