Mutation Details for c.859A>T
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cDNA Name
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c.859A>T
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Protein Name
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p.Asn287Tyr
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Exon or Intron
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exon 7
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Legacy Exon or Intron
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exon 6b
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N287Y
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Other Details
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This individual was a compound heterozygote for [delta]F508. He was diagnosed at 3 1/2 years of age when referred because of rectal prolapse; his sweat Cl was 75 and 81 mEq/L. He had been totally healthy since birth with normal growth and no significant gastrointestinal complaints. He had 4-5 upper respiratory infections per year. Formal pancreatic function testing was within normal limits. A vas deferens was identified on the side of the herniorraphy. He has grown along the fiftieth percentile for weight and the ninetieth for height without the use of pancreatic enzyme supplements. N287Y was originally identified by SSCA and HA and was subsequently detected by artificial Dra I site generating PCR amplification.
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Contributors
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Shrimpton A E,
Borowitz D
1996-10-09
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Institute
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SUNY Health Science Center,
Syracuse, New York.
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Submitted Phenotype Details
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Additional information regarding the N287Y mutation available in the following paper: Shrimpton et al. 1997.
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Reference
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Shrimpton & Borowitz (NL#69)
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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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