Please note: While some information will still be current in a year, other information may already be out of date in three months time. If you are in any doubt, please feel free to ask.

R1070W

Question
In what class is R1070W?
Answer
Many thanks for your question. R1070W confers a mild CF phenotype (with pancreatic sufficiency and minimal, if any, lung disease). CFTR in CF subjects with the R1070W mutation have a low level of expression, but it is present on the apical membrane of the cell.[1] This rare mutation has only relatively recently been characterised,[2] and it has not been allocated to a specific class of mutation on the CF Mutation database.[3]
An interesting question has recently been answered on the ECORN Archive on the R1070W mutation in terms of phenotype which may be of interest.[4]

Best wishes
Dr David Comer
Belfast

Reference list
1. gradworks.umi.com/33/39/3339859.html

2. Krasnov, K.V., et al., Localization studies of rare missense mutations in cystic fibrosis transmembrane conductance regulator (CFTR) facilitate interpretation of genotype-phenotype relationships. Hum Mutat, 2008. 29(11): p. 1364-72.
3. www.genet.sickkids.on.ca/MutationDetailPage.external?sp=454

4. ecorn-cf.eu/index.php?id=65&tx_expertadvice_pi1%5Bshowitem%5D=1635&tx_expertadvice_pi1%5Bsearch%5D=

19.01.2012