Mutation Details for c.2061_2062insTTTT

cDNA Name c.2061_2062insTTTT 
Protein Name p.Lys688PhefsX? 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2193ins4 
Other Details This insertion was found by DGGE followed by sequencing of both the strands.This mutation was identified in a CF patient from Puglia region of Southern Italy.The patient has [delta]F508 mutation on the other chromosome. 
Contributors Polizzi A., Santostasi T., Manca A., Logrillo V.P. and Rigillo N.   2004-06-16
Institute Dipartimento di Biomedicina dellEtˆ Evolutiva-Laboratorio Fibrosi Cistica-Policlinico-Universitˆ degli Studi di Bari- Bari-ITALY  
Submitted Phenotype Details The 22year old male patient was diagnosed at 2 years (sweat cloride: 119mEq/L). He shows a PI and a moderate pulmonary expression (current FEV1: 62% of predicted) and no liver expression.(pers. corr. Polizzi) 

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The Database was last updated at Apr 25, 2011