ABCMdb

ABCC7 p.Met82Ile

CF databases:	c.244A>G , p.Met82Val (CFTR1) ? , The mutation was detected by DGGE analysis and characterized by direct sequencing. We have seen it only once, in over 400 control chromosomes from Italian population.
Predicted by SNAP2:	A: N (66%), C: N (53%), D: D (85%), E: D (80%), F: N (53%), G: D (75%), H: D (80%), I: N (82%), K: D (85%), L: N (82%), N: D (80%), P: D (75%), Q: D (75%), R: D (85%), S: D (53%), T: N (57%), V: N (82%), W: D (80%), Y: D (53%),
Predicted by PROVEAN:	A: N, C: N, D: D, E: D, F: N, G: D, H: D, I: N, K: N, L: N, N: D, P: D, Q: N, R: D, S: N, T: N, V: N, W: N, Y: N,

[switch to compact view]
Comments [show]

None has been submitted yet.

Publications
[hide] Genotype-phenotype correlation and frequency of th... Genet Med. 2004 Sep-Oct;6(5):421-5. Monaghan KG, Highsmith WE, Amos J, Pratt VM, Roa B, Friez M, Pike-Buchanan LL, Buyse IM, Redman JB, Strom CM, Young AL, Sun W
Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: results from a collaborative study.
Genet Med. 2004 Sep-Oct;6(5):421-5., [PMID:15371907]

Abstract [show]
PURPOSE: We expect that the mutation panel currently recommended for preconception/prenatal CF carrier screening will be modified as new information is learned regarding the phenotype associated with specific mutations and allele frequencies in various populations. One such example is the I148T mutation, originally described as a severe CF mutation. After implementation of CF population-based carrier screening, we learned that I148T exists as a complex allele with 3199del6 in patients with clinical CF, whereas asymptomatic compound heterozygotes for I148T and a second severe CF mutation were negative for 3199del6. METHODS: We performed reflex testing for 3199del6 on 663 unrelated specimens, including I148T heterozygotes, compound heterozygotes, and a homozygous individual. RESULTS: Less than 1% of I148T carriers were also positive for 3199del6. Excluding subjects tested because of a suspected or known CF diagnosis or positive family history, 0.6% of I148T-positive individuals were also positive for 3199del6. We identified 1 I148T homozygote and 6 unrelated compound heterozygous individuals with I148T and a second CF variant (2 of whom also carried 3199del6). In addition, one fetus with echogenic bowel and one infertile male were heterozygous for I148T (3199del6 negative). CONCLUSIONS: Reflex testing for 3199del6 should be considered whenever I148T is identified. Reflex testing is of particular importance for any symptomatic patient or whenever one member of a couple carries a deleterious CF mutation and the other member is an I148T heterozygote. Further population data are required to determine if I148T, in the absence of 3199del6, is associated with mild or atypical CF or male infertility.

Comments [show]

None has been submitted yet.

Sentences [show]
No. Sentence Comment
69 9 Prenatal test Asian Fetal echogenic bowel I148Ta /M82I Not determined Healthy female last evaluated at age 28 months with no signs or symptoms of CF. Login to comment
79 A previously unreported variant of unknown clinical significance, M82I (ATG3ATA), was identified in the other parent. Login to comment
80 M82I was incidentally detected by heteroduplex analysis of exon 3, which was used by the laboratory to screen for known CF mutations. Login to comment
82 It was explained to the couple that M82I was most likely a benign polymorphism because codon 82 is not located in a critical region of the CFTR gene and that the substitution of methionine with isoleucine (both hydrophobic amino acids) in this region of the gene was not likely deleterious (J. Zelienski, personal communication, 2004). Login to comment
85 CF testing was positive for I148T and M82I. Login to comment
113 One fetus was compound heterozygous for I148T and M82I, a previously unreported variant of unknown clinical significance. Login to comment