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2 records shown · first 60A complement C5 gene mutation, c.754G>A:p.A252T, is common in the Western Cape, South Africa and found to be homozygous in seven percent of Black African meningococcal disease cases.
PMID 25534848 | DOI 10.1016/j.molimm.2014.11.010 · Molecular immunology · 2015 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | p.Q19X | “Three different C5 mutations c.55C>T:p.Q19X, c.754G>A:p.A252T and c.4426C>T:p.R1476X were diagnosed in index cases from two families who had both presented with recurrent meningococcal disease. p.Q19X and p.R1476X have already been described in North American Black families and more recently p.Q19X in a Saudi family.” | 0.95 | hgvs_regex_v1 |
| gene | C5 | “A complement C5 gene mutation, c.754G>A:p.A252T, is common in the Western Cape, South Africa and found to be homozygous in seven percent of Black African meningococcal disease cases.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Approximately 40 individual cases have been diagnosed worldwide. Three different C5 mutations c.55C>T:p.Q19X, c.754G>A:p.A252T and c.4426C>T:p.R1476X were diagnosed in index cases from two families who had both presented with recurrent meningococcal disease. p.Q19X and p.R1476X have already been described in North American Black families and more recently p.Q19X in a Saudi family.” | 0.95 | saudi_context_rules_v1 |
| variant | c.754G>A | “A complement C5 gene mutation, c.754G>A:p.A252T, is common in the Western Cape, South Africa and found to be homozygous in seven percent of Black African meningococcal disease cases.” | 0.95 | hgvs_regex_v1 |
C5 complement deficiency in a Saudi family, molecular characterization of mutation and literature review.
PMID 23371790 | DOI 10.1007/s10875-013-9872-7 · Journal of clinical immunology · 2013 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | Q19X | “RESULTS: Molecular studies showed a homozygous nonsense mutation in exon 1, with the change of cytosine to thymine at position 55 (55C > T) leading to change of the glutamine amino acid at position 19 to a stop codon (Q19X), and serologically absence of C5 in the serum.” | 0.82 | literature_variant_regex_v2 |
| gene | C5 | “C5 complement deficiency in a Saudi family, molecular characterization of mutation and literature review.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “C5 complement deficiency in a Saudi family, molecular characterization of mutation and literature review. This report also highlights the importance of complement screening in cases of sporadic meningococcal Infections, especially in communities with high prevalence of consanguineous marriages, which will ensure timely and adequate clinical interventions.” | 0.95 | saudi_context_rules_v1 |