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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02746: Variant p.Gly42Asp

Complement C1q subcomponent subunit B
Gene: C1QB
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Variant information Variant position: help 42 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 Glycine (G) to Aspartate (D) at position 42 (G42D, p.Gly42Asp). 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 glycine (G) to medium size and acidic (D) 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 C1QD2. Any additional useful information about the variant.


Sequence information Variant position: help 42 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 253 The length of the canonical sequence.
Location on the sequence: help IDISQAQLSCTGPPAIPGIP G IPGTPGPDGQPGTPGIKGEK 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                         IDISQAQLSCTGPPAIPGIPGIPGTPGPDGQPGTPGIKGEK

Mouse                         LHVSWAQSSCTGPPGIPGIPGVPGVPGSDGQPGTPGIKGEK

Rat                           LHVSWAQSSCTGSPGIPGVPGIPGVPGSDGKPGTPGIKGEK

Bovine                        LRVSWAQSNCI-RPSIPGIPGIPGKPGSDGKPGTPGTKGEK
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 28 – 253 Complement C1q subcomponent subunit B
Domain 37 – 86 Collagen-like 1
Region 38 – 115 Disordered
Modified residue 28 – 28 Pyrrolidone carboxylic acid
Modified residue 35 – 35 4-hydroxyproline
Modified residue 38 – 38 4-hydroxyproline
Modified residue 41 – 41 4-hydroxyproline
Modified residue 53 – 53 4-hydroxyproline
Modified residue 56 – 56 4-hydroxyproline
Modified residue 59 – 59 5-hydroxylysine
Modified residue 62 – 62 5-hydroxylysine
Disulfide bond 31 – 31 Interchain (with C-26 in chain A)



Literature citations
Molecular basis of a new type of C1q-deficiency associated with a non-functional low molecular weight (LMW) C1q: parallels and differences to other known genetic C1q-defects.
Petry F.; Hauptmann G.; Goetz J.; Grosshans E.; Loos M.;
Immunopharmacology 38:189-201(1997)
Cited for: VARIANT C1QD2 ASP-42;
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.