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. Author manuscript; available in PMC: 2011 Apr 1.
Published in final edited form as: J Med Genet. 2010 Nov 20;48(4):235–241. doi: 10.1136/jmg.2010.083287

Table 2.

Functional consequences of CFTR mutations identified after CFTR sequencing

ID Second CFTR
mutation identified
after sequencing		 Amino acid conservation* Functional consequence References
1 TG12-5T NA Missplicing–loss of exon
9 from CFTR transcript		 Cuppens et al 199835
Groman et al 200436
2 S492F Conserved in mammalian
orthologues except platypus		 None described Ferec et al31
Wine et al 200139
3 P205S Conserved in mammalian
orthologues		 Defective biosynthesis, decreased
amount of fully glycosylated CFTR		 Sheppard et al 199634
4, 5 711+3 A→G NA Missplicing–loss of exon
5 from CFTR transcript		 This study (figure 2)
*

Sequences were obtained from GenBank. Mammalian orthologues included macaque, mouse, rat, dog, cat, cow, platypus, opossum, guinea pig, and rabbit. Amino acid alignment was generated using ClustalW.