Mutation Details for c.1253A>G
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cDNA Name
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c.1253A>G
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Protein Name
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p.Asn418Ser
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Exon or Intron
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exon 10
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Legacy Exon or Intron
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exon 9
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N418S
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Other Details
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A novel mutation was identified by SSCP and direct sequencing. The nucleotide change A->G at position 1385 in exon 9 resulting in a replacement of a asparagine by a serine at position 418 (N418S). This mutation was found in two unrelated CF alleles. Both patients are compund heterozygous for [delta]F508.
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Contributors
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Savov A,
Angelicheva D,
Jordanova A
1994-11-22
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Institute
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Laboratory of Molecular Pathology, Sofia, Bulgaria
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Submitted Phenotype Details
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Savov is reporting N418S as a polymorphism. The patient has delF508 on the other allele
(pers. corr. Savov)
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Reference
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Sava 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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