Gene Symbol: SLC39A4
OMIM: 607059Chromosome location: 8q24.3
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Acrodermatitis enteropathica |
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| Dna Change: | c.1223_1227delCCGGG |
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| Protein Change: | p.Trp411ArgfsX7 |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | exon 7 |
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| Transcript: | NM_130849.2 |
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| Phenotype: | Acrodermatitis enteropathica |
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| Dna Change: | c.143T>G |
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| Protein Change: | p.Leu48X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Nonsense |
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| Location: | exon 1 |
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| Transcript: | NM_130849.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Tunisia | NA | NA | 3 unrelated families | NA | Schmitt S et al., 2009Schmitt S, Küry S, Giraud M, Dréno B, Kharfi M, Bézieau S, . An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica.. Hum. Mutat.. 2009; 30(6):926-33 |
| Tunisia | NA | NA | 3 patients/ 3 families | NA | Küry S et al., 2003Küry S, Kharfi M, Kamoun R, Taïeb A, Mallet E, Baudon JJ, Glastre C, Michel B, Sebag F, Brooks D, Schuster V, Scoul C, Dréno B, Bézieau S, Moisan JP, . Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica.. Hum. Mutat.. 2003; 22(4):337-8 |
References
Küry S, Kharfi M, Kamoun R, Taïeb A, Mallet E, Baudon JJ, Glastre C, Michel B, Sebag F, Brooks D, Schuster V, Scoul C, Dréno B, Bézieau S, Moisan JP, Mutation spectrum of human SLC39A4 in a panel of patients with acrodermatitis enteropathica.Hum. Mutat.. 2003; 22(4):337-8
Schmitt S, Küry S, Giraud M, Dréno B, Kharfi M, Bézieau S, An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica.Hum. Mutat.. 2009; 30(6):926-33