Variant position: 42 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 253 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 IDISQAQLSCTGPPAIPGIP GIPGTPGPDGQPGTPGIKGEK
Mouse LHVSWAQSSCTGPPGIPGIP GVPGVPGSDGQPGTPGIKGEK
Rat LHVSWAQSSCTGSPGIPGVP GIPGVPGSDGKPGTPGIKGEK
Bovine LRVSWAQSNCI-RPSIPGIP GIPGKPGSDGKPGTPGTKGEK
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
28 – 253 Complement C1q subcomponent subunit B
37 – 86 Collagen-like 1
38 – 115 Disordered
28 – 28 Pyrrolidone carboxylic acid
35 – 35 4-hydroxyproline
38 – 38 4-hydroxyproline
41 – 41 4-hydroxyproline
53 – 53 4-hydroxyproline
56 – 56 4-hydroxyproline
59 – 59 5-hydroxylysine
62 – 62 5-hydroxylysine
31 – 31 Interchain (with C-26 in chain A)
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.;
Cited for: VARIANT C1QD ASP-42;
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