Mutation Details for c.731T>A
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cDNA Name
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c.731T>A
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Protein Name
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p.Met244Lys
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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M244K
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Other Details
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A new mutation was found (by DGGE, then both strands DNA have been sequenced) in a CBAVD patient from Southern France.
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Contributors
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Claustres M,
Desgeorges M,
Romey M-C
1994-12-07
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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) has CBAVD, DeltaF508 was found on the other allele.
(de Meeus et all 1998 and pers. corr. Claustres)
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Reference
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Claustres et al. (NL#64)
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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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