Mutation Details for c.1517T>C
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cDNA Name
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c.1517T>C
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Protein Name
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p.Ile506Thr
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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I506T
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Other Details
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The whole coding and flanking sequence has been screened by DGGE, and no other alteration could be found except known polymorphisms. This second mutation at codon 506 ( the first, 1506S, was described by Deufel) was thoroughly checked by two different sequences from different PCR products.
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Contributors
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Claustres M,
Desgeorges M,
Romey M-C
1994-04-20
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Institute
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Laboratoire de Biochimie Genetique
Montpellier, France
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Submitted Phenotype Details
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Patient (M) is >10y, no clinical information is known about this individual. 2589+5G>A was found on the other allele.
(pers. corr. Desgeorges)
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Reference
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Desgeorges et al. 1995
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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