ABCC7 p.Pro355Leu
| CF databases: |
c.1063C>T
,
p.Pro355Ser
(CFTR1)
?
, The mutation was detected by DGGE analysis and characterised by direct sequencing. We have seen it only once, in over 2500 control chromosomes from Italian population.
|
| Predicted by SNAP2: | A: D (63%), C: D (63%), D: D (75%), E: D (75%), F: D (80%), G: D (71%), H: D (63%), I: D (75%), K: D (85%), L: D (80%), M: D (71%), N: D (71%), Q: D (59%), R: D (75%), S: D (63%), T: D (71%), V: D (75%), W: D (80%), Y: D (80%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Role of the ubiquitin system in regulating ion tra... Pflugers Arch. 2011 Jan;461(1):1-21. Epub 2010 Oct 23. Rotin D, Staub O
Role of the ubiquitin system in regulating ion transport.
Pflugers Arch. 2011 Jan;461(1):1-21. Epub 2010 Oct 23., [PMID:20972579]
Abstract [show]
Ion channels and transporters play a critical role in ion and fluid homeostasis and thus in normal animal physiology and pathology. Tight regulation of these transmembrane proteins is therefore essential. In recent years, many studies have focused their attention on the role of the ubiquitin system in regulating ion channels and transporters, initialed by the discoveries of the role of this system in processing of Cystic Fibrosis Transmembrane Regulator (CFTR), and in regulating endocytosis of the epithelial Na(+) channel (ENaC) by the Nedd4 family of ubiquitin ligases (mainly Nedd4-2). In this review, we discuss the role of the ubiquitin system in ER Associated Degradation (ERAD) of ion channels, and in the regulation of endocytosis and lysosomal sorting of ion channels and transporters, focusing primarily in mammalian cells. We also briefly discuss the role of ubiquitin like molecules (such as SUMO) in such regulation, for which much less is known so far.
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No. Sentence Comment
147 Another variant, encoding NEDD4-2-P355L, was shown to be less effective at suppressing ENaC than the native protein, likely due to its enhance phosphorylation [62] (see below).
X
ABCC7 p.Pro355Leu 20972579:147:34
status: NEW[hide] Novel CFTR variants identified during the first 3 ... J Mol Diagn. 2013 Sep;15(5):710-22. doi: 10.1016/j.jmoldx.2013.05.006. Epub 2013 Jun 28. Prach L, Koepke R, Kharrazi M, Keiles S, Salinas DB, Reyes MC, Pian M, Opsimos H, Otsuka KN, Hardy KA, Milla CE, Zirbes JM, Chipps B, O'Bra S, Saeed MM, Sudhakar R, Lehto S, Nielson D, Shay GF, Seastrand M, Jhawar S, Nickerson B, Landon C, Thompson A, Nussbaum E, Chin T, Wojtczak H
Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.
J Mol Diagn. 2013 Sep;15(5):710-22. doi: 10.1016/j.jmoldx.2013.05.006. Epub 2013 Jun 28., [PMID:23810505]
Abstract [show]
California uses a unique method to screen newborns for cystic fibrosis (CF) that includes gene scanning and DNA sequencing after only one California-40 cystic fibrosis transmembrane conductance regulator (CFTR) panel mutation has been identified in hypertrypsinogenemic specimens. Newborns found by sequencing to have one or more additional mutations or variants (including novel variants) in the CFTR gene are systematically followed, allowing for prospective assessment of the pathogenic potential of these variants. During the first 3 years of screening, 55 novel variants were identified. Six of these novel variants were discovered in five screen-negative participants and three were identified in multiple unrelated participants. Ten novel variants (c.2554_2555insT, p.F1107L, c.-152G>C, p.L323P, p.L32M, c.2883_2886dupGTCA, c.2349_2350insT, p.K114del, c.-602A>T, and c.2822delT) were associated with a CF phenotype (42% of participants were diagnosed at 4 to 25 months of age), whereas 26 were associated with CFTR-related metabolic syndrome to date. Associations with the remaining novel variants were confounded by the presence of other diseases or other mutations in cis or by inadequate follow-up. These findings have implications for how CF newborn screening and follow-up is conducted and will help guide which genotypes should, and which should not, be considered screen positive for CF in California and elsewhere.
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No. Sentence Comment
74 of parents receiving CFTR mutation testing Diagnosis/ status 49 W 80.6 p.F508del p.S13C 7T/9T 0 ND{ 50 H 90.3 c.274-1G>A p.T629A 7T/9T 0 ND{ 51 W, B 100.6 p.F508del p.P355L (c.1064C>T) 7T/9T 0 ND{ 52 H 79.1 p.F508del p.Q493H (c.1479G>C) 7T/9T 0 ND{ 53 W, B 64.8 p.F508del p.V1022M 7T/9T 0 ND{ 54 W 74.7 p.F508del c.-887C>T c.4243-5C>T 7T/9T 0 NDk 55 O 136.6 p.F508del p.P718R 7T/9T 0 ND{ Study participants with negative NBS results 56 H 276.7 c.2822delT c.2822delT 7T/7T 0 CF 57 H 179.2 c.2822delT c.2822delT 7T/7T 0 CF 58 W 15.6 p.S1235R c.-288G>C 7T/9T 0 CF 59 H 35.1 c.164 &#fe; 4T>A* p.G1173S* Not done 1 Carrier 60 O 20.2 c.4136 &#fe; 12A>G* p.M837Ty Not done 2 NDk *Confirmed by parental CFTR mutation testing to be on chromosome 1. y Confirmed by parental CFTR mutation testing to be on chromosome 2. z 5T variant associated with (TG)11. x 5T variant associated with (TG)12.
X
ABCC7 p.Pro355Leu 23810505:74:167
status: NEW191 47 to 55 and 60) with the following novel variants owing to inadequate follow-up: p.S13C, p.P355L, p.Q493H, p.T629A, p.P718R, p.V1022M, p.R1128G, and c.3963 &#fe; 6G>T.
X
ABCC7 p.Pro355Leu 23810505:191:92
status: NEW