Mutation Details for c.1495C>G
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cDNA Name
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c.1495C>G
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Protein Name
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p.Pro499Ala
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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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P499A
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Other Details
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The above mutation was detected by SSCP analysis and identified by direct sequencing. It was found on the paternal chromosome in a CBAVD patient, with his maternal chromosome carrying W1282X. The mutation removes a BstNI site.
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Contributors
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Arduino C,
Brusco A,
Ferrone M,
Carbonara A
1996-04-22
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Institute
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Servizio di Genetica Medica Torino, Italy
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Submitted Phenotype Details
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The patient (male,30) was diagnosed with CBAVD at 26y, is PS, no lung disease. W1282X on the other allele.
(pers.corr.Arduino and Arduino et all 1998)
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Reference
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Arduino et al. (NL#68)
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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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