Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P09486: Variant p.Glu263Lys

SPARC
Gene: SPARC
Feedback?
Variant information Variant position: help 263 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 Glutamate (E) to Lysine (K) at position 263 (E263K, p.Glu263Lys). 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 acidic (E) to large size and basic (K) 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 OI17; no effect on expression and secretion of the protein; altered secretion of procollagen type I. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 263 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 303 The length of the canonical sequence.
Location on the sequence: help IDGYLSHTELAPLRAPLIPM E HCTTRFFETCDLDNDKYIAL 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                         IDGYLSHTELAPLRAPLIPMEHCTTRFFETCDLDNDKYIAL

Mouse                         IDGYLSHTELAPLRAPLIPMEHCTTRFFETCDLDNDKYIAL

Rat                           IDGYLSHTELAPLRAPLIPMEHCTTRFFETCDLDNDKYIAL

Pig                           IDGYLSHTELAPLRAPLIPMEHCTTRFFQTCDLDNDKYIAL

Bovine                        IDGYLSHTELAPLRAPLIPMEHCTTRFFETCDLDNDKYIAL

Chicken                       IDGYLSHTELAPLRAPLIPMEHCTTRFFEACDLDFDKYIAL

Xenopus laevis                IDGYLSHTELSPLRAPLIPMEHCTTRFFDECDIDDDKYIAL

Caenorhabditis elegans        HDKSVSHHELIPITAPVIPMESCIKPFLEGCDANNDGNISI
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 18 – 303 SPARC
Domain 261 – 296 EF-hand
Binding site 274 – 274
Binding site 276 – 276
Binding site 278 – 278
Binding site 280 – 280
Disulfide bond 155 – 265
Mutagenesis 259 – 259 L -> A. Loss of collagen binding.
Mutagenesis 262 – 262 M -> A. Strongly reduced collagen binding.
Mutagenesis 263 – 263 E -> A. Loss of collagen binding.
Helix 263 – 265



Literature citations
Recessive osteogenesis imperfecta caused by missense mutations in SPARC.
Mendoza-Londono R.; Fahiminiya S.; Majewski J.; Tetreault M.; Nadaf J.; Kannu P.; Sochett E.; Howard A.; Stimec J.; Dupuis L.; Roschger P.; Klaushofer K.; Palomo T.; Ouellet J.; Al-Jallad H.; Mort J.S.; Moffatt P.; Boudko S.; Baechinger H.P.; Rauch F.;
Am. J. Hum. Genet. 96:979-985(2015)
Cited for: INVOLVEMENT IN OI17; VARIANTS OI17 HIS-166 AND LYS-263; CHARACTERIZATION OF VARIANTS OI17 HIS-166 AND LYS-263;
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.