Gene Symbol: HMBS
OMIM: 609806Chromosome location: 11q23.3
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Porphyria, acute intermittent |
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| Dna Change: | c.849G>A |
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| Protein Change: | p.Trp283Ter |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Nonsense |
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| Location: | exon 14 |
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| Transcript: | NM_000190.3 |
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| Phenotype: | Porphyria, acute intermittent |
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| Dna Change: | c.669_698del30 |
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| Protein Change: | p.Glu223_Leu232del |
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| Mutation Type: | Deletion |
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| Mutation Effect: | |
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| Location: | exon 11 |
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| Transcript: | NM_000190.3 |
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References
Guillén-Navarro E, Carbonell P, Glover G, Sánchez-Solís M, Fernández-Barreiro A, Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria.Ann. Hum. Genet.. 2004; 68(0):509-14
Schneider-Yin X, Hergersberg M, Goldgar DE, Rüfenacht UB, Schuurmans MM, Puy H, Deybach JC, Minder EI, Ancestral founder of mutation W283X in the porphobilinogen deaminase gene among acute intermittent porphyria patients.Hum. Hered.. 2002; 54(2):69-81