ABCC7 p.Val1212Ile
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PMID: 11118444
[PubMed]
Clain J et al: "Two mild cystic fibrosis-associated mutations result in severe cystic fibrosis when combined in cis and reveal a residue important for cystic fibrosis transmembrane conductance regulator processing and function."
No.
Sentence
Comment
125
DISCUSSION Complex alleles have been described clinically (R553Q- ⌬F508, ⌬F508-V1212I, and R334W-R1158X), and most of them are considered to reverse the phenotype, as they are associated with milder symptoms than the most common mutation in isolation.
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ABCC7 p.Val1212Ile 11118444:125:93
status: NEW
PMID: 8844211
[PubMed]
Duarte A et al: "Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient."
No.
Sentence
Comment
37
The first published complex allele in the CFTR gene (Dork et al., 1991) consisted of an alteration (R553Q) that partially reverted the phenotypic effects of the AF508 mutation (Teem et al., 1993).The sameseems to apply to the AF508- V1212I allele (Macek et al., 1993).
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ABCC7 p.Val1212Ile 8844211:37:233
status: NEW
No.
Sentence
Comment
67
For example, the complex allele R553Q-delta F508 has been shown to revert partially or ameliorate the phenotype of delta F508 mutation.15 Other revertants (delta F508-V1212I and R334W-R1158X) associated with mild or atypical CF have also been described.16,17 Nasal Potential-Difference Measurements This is a functional test for the CFTR gene product.
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ABCC7 p.Val1212Ile 14569807:67:167
status: NEW