Application | Comment | Organism |
---|---|---|
diagnostics | melting properties of mutant enzymes are used to diagnose acute intermittent porphyria in symptomatic and asymptomatic carriers with the high-resolution melting method | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A226P | c.675delA (p.Ala226ProfsX28) | Homo sapiens |
E250D | c.750A>T (p.Glu250Asp) | Homo sapiens |
G24S | c.70G>A (p.Gly24Ser) | Homo sapiens |
H300L | c.899_900delinsTGCCTGCATCTG (p.His300LeuFsX10) | Homo sapiens |
additional information | the commonly known variations g.-64T/C (rs589925), g.3581A/G (rs17075), g.6479T/G (rs1131488), and g.7064C/A (rs1784304) are detected by the high-resolution melting method, and also the identified DNA alternations c.76C>T (p.Arg26Cys), c.77G>A (p.Arg26His), c.95G>C (p.Arg32Pro), c.176C>T (p.Thr59Ille), a complex monoallelic mutation c.[518G>A; c.610C>A] (p.[Arg173Gln;p.Gln204Lys]), c.675delA (p.Ala226ProfsX28), c.750A>T (p.Glu250Asp), c.771+1G>T (r.spl?), c.965_966insA (p.Asn322LysfsX36), and c.972_973insG (p.Arg325AlafsX33) can be identified, additionally the alterations g.2922T>G, g.3059G>A, g.3119T/G (rs1006195), c.70G>A (p.Gly24Ser), c.87+5G>T (r.spl?), c.[518G>A;c.610C>A] (p.[Arg173Gln, p.Gln204Lys]), g.7175A>G, c.899_900delinsTGCCTGCATCTG (p.His300LeuFsX10), g.7998G/A (rs1799997) are identified in 97 subjects | Homo sapiens |
N322K | c.965_966insA (p.Asn322LysfsX36) | Homo sapiens |
R26C | c.76C>T (p.Arg26Cys) | Homo sapiens |
R325A | c.972_973insG (p.Arg325AlafsX33) | Homo sapiens |
R32P | c.95G>C (p.Arg32Pro) | Homo sapiens |
R73Q/Q204K | a complex monoallelic mutation c.[518G>A; c.610C>A] (p.[Arg173Gln;p.Gln204Lys]) | Homo sapiens |
T59I | c.176C>T (p.Thr59Ille) | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
4 porphobilinogen + H2O | Homo sapiens | - |
hydroxymethylbilane + 4 NH3 | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P08397 | - |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
4 porphobilinogen + H2O | - |
Homo sapiens | hydroxymethylbilane + 4 NH3 | - |
? |
Synonyms | Comment | Organism |
---|---|---|
HMBS | - |
Homo sapiens |
hydroxymethylbilane synthase | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | acute intermittent porphyria is characterized by a partial deficiency in the enzyme, the third enzyme in heme biosynthesis | Homo sapiens |