Variant position: 629 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 KFLLKNKQADRSSCHFLLFY GVGCDIPSSGNTSQMSMDHEE
Mouse KFLLKNKQADRSSCHSLYLY GVGCEMSATGNTTQMSVDHDE
Rat KFLLKNKQADRSSCHSLYLY GVGCDLPASGNVTQMSVDHEE
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
552 – 2839 Missing. In isoform 3.
594 – 2839 Missing. In isoform 5.
Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms.
Gasparini P.; D'Agruma L.; de Cillis G.P.; Balestrazzi P.; Mingarelli R.; Zelante L.;
Hum. Genet. 97:492-495(1996)
Cited for: VARIANT NF1 ARG-629;
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;
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain.
Mattocks C.; Baralle D.; Tarpey P.; ffrench-Constant C.; Bobrow M.; Whittaker J.;
J. Med. Genet. 41:E48-E48(2004)
Cited for: VARIANTS NF1 ARG-31; PRO-145; ARG-324; VAL-337; CYS-489; PRO-532; ARG-574; ARG-629; PHE-665; PHE-844; PRO-844; MET-991 DEL; VAL-1073; ARG-1196; GLY-1276; GLN-1276; GLU-1430; GLU-1459 DEL AND GLY-1489; VARIANTS GLU-176 AND CYS-873;
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.