Variant position: 844 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 GSIDLSDTDSLQEWINMTGF LCALGGVCLQQRSNSGLATYS
Mouse GSIDLSDTDSLQEWINMTGF LCALGGVCLQQRSSSGLATYS
Rat GSIDLSDTDSLQEWINMTGF LCALGGVCLQQRSSSGLATYS
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.
NF1 gene analysis focused on CpG-rich exons in a cohort of 93 patients with neurofibromatosis type 1.
Boulandet E.G.; Pantel J.; Cazeneuve C.; Van Gijn M.; Vidaud D.; Lemay S.; Martin J.; Zeller J.; Revuz J.; Goossens M.; Amselem S.; Wolkenstein P.;
Hum. Mutat. 16:274-275(2000)
Cited for: VARIANT NF1 PHE-844;
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.