Variant position: 1093 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2912 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 DINECKAFPGMCTYGKCRNT IGSFKCRCNSGFALDMEERNC
Mouse DINECKAFPGMCTYGKCRNT IGSFKCRCNNGFALDMEERNC
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.
Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development.
Park E.-S.; Putnam E.A.; Chitayat D.; Child A.; Milewicz D.M.;
Am. J. Med. Genet. 78:350-355(1998)
Cited for: VARIANTS CCA ASP-1057 AND THR-1093; VARIANTS SER-594; HIS-681; ILE-965; GLY-1772; LEU-2266; THR-2428 AND PRO-2771;
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.
Gupta P.A.; Putnam E.A.; Carmical S.G.; Kaitila I.; Steinmann B.; Child A.; Danesino C.; Metcalfe K.; Berry S.A.; Chen E.; Delorme C.V.; Thong M.-K.; Ades L.C.; Milewicz D.M.;
Hum. Mutat. 19:39-48(2002)
Cited for: VARIANTS CCA ASP-1057; THR-1093; PHE-1142; CYS-1179; TYR-1198; ARG-1240; TRP-1253; TYR-1253; TRP-1257; ARG-1268 AND SER-1434; VARIANT ILE-965;
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.