Mutation Details for c.1135G>A
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cDNA Name
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c.1135G>A
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Protein Name
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p.Glu379Lys
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Exon or Intron
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exon 9
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Legacy Exon or Intron
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exon 8
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E379K
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Other Details
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This mutation was detected by DGGE and identified by DNA fluorescent sequencing in a CBAVD patient from Southern France, who carried the D443Y mutation in trans.
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Contributors
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Claustres M,
des Georges M,
Guittard C
2002-03-12
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Institute
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IURC
Montpellier
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Submitted Phenotype Details
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Patient (M) has PS, no lung disease and CBAVD.
D443Y was found on the other allele.
(pers. corr. Claustres)
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Reference
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Claustres et al. 2002
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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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