ABCC7 p.Arg117Thr
| ClinVar: |
c.350G>C
,
p.Arg117Pro
?
, not provided
c.349C>G , p.Arg117Gly ? , not provided c.350G>T , p.Arg117Leu ? , not provided c.349C>T , p.Arg117Cys D , Pathogenic c.350G>A , p.Arg117His D , Pathogenic |
| CF databases: |
c.350G>A
,
p.Arg117His
?
, Varying clinical consequence ; CFTR1:
c.349C>T , p.Arg117Cys D , CF-causing ; CFTR1: The haplotype is 2-1-1-2 (XV2c-KM19-D9-J44) with seven GATT repeats. The mutation creates a new Bsml site. c.349C>G , p.Arg117Gly (CFTR1) ? , Was reported previously in one study of CBAVD. R117G/UND 7T/9T (Daudin et al., Fertility and Sterility, 74:1164-1174, 2000). c.350G>C , p.Arg117Pro (CFTR1) ? , A new missense mutation was found in exon 4 : R 117 P. The mutation was detected by DGGE analysis and identified by remplacement of an arginine residue by a proline at codon 117. The mutation creates new MnlI and NlaIV sites. The mutation was identified in one french CF chromosome. The patient has a mild lung disease and is sufficient pancreatic. c.350G>T , p.Arg117Leu (CFTR1) ? , This mutation was identified by DGGE and direct sequencing and was identified on one CF chromosome of Italian origin. |
| Predicted by SNAP2: | A: D (91%), C: D (63%), D: D (95%), E: D (95%), F: D (91%), G: D (95%), H: N (53%), I: D (85%), K: D (95%), L: D (63%), M: D (85%), N: D (95%), P: D (66%), Q: D (95%), S: D (95%), T: D (95%), V: D (91%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: N, C: D, 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, |
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[hide] Skipping of exon 9 of human CFTR in YAC-transgenic... Genomics. 2001 Oct;77(3):127-34. Manson A, Huxley C
Skipping of exon 9 of human CFTR in YAC-transgenic mice.
Genomics. 2001 Oct;77(3):127-34., [PMID:11597137]
Abstract [show]
Exon 9 of the human gene CFTR is skipped in some mRNA transcripts in human tissues. The level of skipping correlates with the number of TG's and T's in the 5' splice acceptor of exon 9. Poorly spliced alleles are associated with mild cystic fibrosis related phenotypes. Here we describe transgenic mice carrying a yeast artificial chromosome (YAC) with the intact human gene CFTR. When the YAC carries 10 TG's and 7 T's at the splice acceptor, there is about 50% skipping of exon 9 in most tissues, whereas 12 TG's and 5 T's give about 90% skipping. The level of skipping is quite uniform over many tissues, except the testis, in which there is a much higher level of correct splicing. These mice confirm that the TG(m)T(n) polymorphism has an effect on splicing and should be valuable for studying this phenomenon.
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No. Sentence Comment
70 We also introduced the R117T mutation in exon 4 to assess this mutation, but inadvertently also introduced another mutation at nt 413, C to T, also in exon 4, at the same time.
X
ABCC7 p.Arg117Thr 11597137:70:23
status: NEW72 We generated one line of mice, A10, with the YAC carrying the TG12T5 splice site and the R117T and T94I mutations.
X
ABCC7 p.Arg117Thr 11597137:72:89
status: NEW