ABCC7 p.Arg1422Trp
| ClinVar: |
c.4264C>T
,
p.Arg1422Trp
?
, not provided
|
| CF databases: |
c.4264C>T
,
p.Arg1422Trp
(CFTR1)
?
, This possible mutation was found by DGGE and identified by DNA sequencing in a CF patient from Southern France. The patient carries [delta]F508 and D993Y. No parental DNA was available at the time to determine with which allele R1422W was associated. The mutation destroys a Fnu4HI restriction site.
|
| Predicted by SNAP2: | A: N (57%), C: D (66%), D: D (80%), E: N (53%), F: D (75%), G: D (75%), H: N (82%), I: D (63%), K: N (93%), L: N (61%), M: N (53%), N: N (78%), P: D (85%), Q: N (72%), S: D (53%), T: N (66%), V: N (61%), W: N (53%), Y: D (80%), |
| Predicted by PROVEAN: | A: N, C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, S: N, T: N, V: N, W: N, Y: N, |
[switch to compact view]
Comments [show]
None has been submitted yet.
[hide] A combined analysis of the cystic fibrosis transme... Mol Biol Evol. 2001 Sep;18(9):1771-88. Chen JM, Cutler C, Jacques C, Boeuf G, Denamur E, Lecointre G, Mercier B, Cramb G, Ferec C
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Mol Biol Evol. 2001 Sep;18(9):1771-88., [PMID:11504857]
Abstract [show]
Over the past decade, nearly 1,000 variants have been identified in the cystic fibrosis transmembrane conductance regulator (CFTR) gene in classic and atypical cystic fibrosis (CF) patients worldwide, and an enormous wealth of information concerning the structure and function of the protein has also been accumulated. These data, if evaluated together in a sequence comparison of all currently available CFTR homologs, are likely to refine the global structure-function relationship of the protein, which will, in turn, facilitate interpretation of the identified mutations in the gene. Based on such a combined analysis, we had recently defined a "functional R domain" of the CFTR protein. First, presenting two full-length cDNA sequences (termed sCFTR-I and sCFTR-II) from the Atlantic salmon (Salmo salar) and an additional partial coding sequence from the eastern gray kangaroo (Macropus giganteus), this study went further to refine the boundaries of the two nucleotide-binding domains (NBDs) and the COOH-terminal tail (C-tail), wherein NBD1 was defined as going from P439 to G646, NBD2 as going from A1225 to E1417, and the C-tail as going from E1418 to L1480. This approach also provided further insights into the differential roles of the two halves of CFTR and highlighted several well-conserved motifs that may be involved in inter- or intramolecular interactions. Moreover, a serious concern that a certain fraction of missense mutations identified in the CFTR gene may not have functional consequences was raised. Finally, phylogenetic analysis of all the full-length CFTR amino acid sequences and an extended set of exon 13--coding nucleotide sequences reinforced the idea that the rabbit may represent a better CF model than the mouse and strengthened the assertion that a long-branch attraction artifact separates the murine rodents from the rabbit and the guinea pig, the other Glires.
Comments [show]
None has been submitted yet.
No. Sentence Comment
544 Consistent with this hypothesis, none of the three missense mutations identified in this region (fig. 2) can be confidently assigned as causal for CF disease; for example, R1422W was identified in a CF patient who also carried the mutations F508del and D993Y, and R1453W was identified in a patient with diffuse panbronchiolitis (http://www.genet.sickkids.on. ca/cftr).
X
ABCC7 p.Arg1422Trp 11504857:544:172
status: NEW