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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35556: Variant p.Ile1093Thr

Fibrillin-2
Gene: FBN2
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Variant information Variant position: help 1093 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Isoleucine (I) to Threonine (T) at position 1093 (I1093T, p.Ile1093Thr). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and hydrophobic (I) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In CCA. Any additional useful information about the variant.


Sequence information Variant position: help 1093 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2912 The length of the canonical sequence.
Location on the sequence: help DINECKAFPGMCTYGKCRNT I GSFKCRCNSGFALDMEERNC 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         DINECKAFPGMCTYGKCRNTIGSFKCRCNSGFALDMEERNC

Mouse                         DINECKAFPGMCTYGKCRNTIGSFKCRCNNGFALDMEERNC
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 78 – 2779 Fibrillin-2
Domain 1073 – 1114 EGF-like 15; calcium-binding
Glycosylation 1095 – 1095 O-linked (Glc) serine
Glycosylation 1112 – 1112 N-linked (GlcNAc...) asparagine
Disulfide bond 1084 – 1098



Literature citations
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;
Disclaimer: 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.