Please note: While some information will still be current in a year, other information may already be out of date in three months time.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