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PMID: 8818956
Tebbutt SJ, Harris A, Hill DF
An ovine CFTR variant as a putative cystic fibrosis causing mutation.
J Med Genet. 1996 Jul;33(7):623-4.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
2
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:2:15
status:
NEW
view ABCC7 p.Arg297Gln details
The equivalent
R297Q
mutation in exon 7 of the human CFTR gene has been reported in a CF patient.
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6
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:6:119
status:
NEW
view ABCC7 p.Arg297Gln details
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:6:236
status:
NEW
view ABCC7 p.Arg297Gln details
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:6:239
status:
NEW
view ABCC7 p.Arg297Gln details
However, only a few mutations A B C B C D CD (Io mo0 E eD 1J -T E F G H J K =_ Wild type A to T il1200) _ G to A lO19)
R297Q
SSCP 3"_-d<303 bp I_ l8*4bo_ di ges l *~~~~~~~~~84bo Figure 1 Pedigree structure of sheep carrying the Gl019A (
R297Q) C
FTR exon 7 gene variant in the heterozygote state (also a silent polymorphism, A1200T, unpublished data).
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15
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:15:32
status:
NEW
view ABCC7 p.Arg297Gln details
Ewe "G" is heterozygous for the
R297Q
variant.
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24
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:24:51
status:
NEW
view ABCC7 p.Arg297Gln details
DNA sequence analysis was used to confirm that the
R297Q
allele is efficiently transcribed (fig 2).
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25
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:25:51
status:
NEW
view ABCC7 p.Arg297Gln details
DNA sequence analysis was used to confirm that the
R297Q
allele is efficiently transcribed (fig 2).
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26
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:26:67
status:
NEW
view ABCC7 p.Arg297Gln details
This is homologous to a putative cystic fibrosis causing mutation (
R297Q
) reported in a Northern Ireland family.9 Interestingly, the arginine (R297) residue lies in the first membrane spanning domain of the predicted CFTR protein, specifically part of the cytoplasmic loop between the putative transmembrane helices 4 and 5.1 The threonine-arginine-lysine (TRK) peptide in this region is entirely conserved in the predicted polypeptides from all animal species in which the CFTR gene has been characterised,'0 including human, sheep, cattle, mouse, Xenopus, and dogfish.
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27
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:27:67
status:
NEW
view ABCC7 p.Arg297Gln details
This is homologous to a putative cystic fibrosis causing mutation (
R297Q
) reported in a Northern Ireland family.9 Interestingly, the arginine (R297) residue lies in the first membrane spanning domain of the predicted CFTR protein, specifically part of the cytoplasmic loop between the putative transmembrane helices 4 and 5.1 The threonine-arginine-lysine (TRK) peptide in this region is entirely conserved in the predicted polypeptides from all animal species in which the CFTR gene has been characterised,'0 including human, sheep, cattle, mouse, Xenopus, and dogfish.
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28
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:28:48
status:
NEW
view ABCC7 p.Arg297Gln details
The two human CF patients reported to carry the
R297Q
mutation were aged 6 and 8 years (in 1991).
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29
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:29:48
status:
NEW
view ABCC7 p.Arg297Gln details
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:29:202
status:
NEW
view ABCC7 p.Arg297Gln details
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:29:374
status:
NEW
view ABCC7 p.Arg297Gln details
Clinically, both patients were similarly affecte
d wit
h mild to moderate chest symptoms and both were receiving pancreatic - enzyme supplements.9 A recent study of a French CF family" has suggested that
R297Q
represents a rare polymorphism, rather than a disease causing mutation, or that the length of a T tract in intron 8 may play a role in influencing the severity ofthe
R297Q
allele.
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30
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:30:202
status:
NEW
view ABCC7 p.Arg297Gln details
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:30:374
status:
NEW
view ABCC7 p.Arg297Gln details
Clinically, both patients were similarly affected with mild to moderate chest symptoms and both were receiving pancreatic - enzyme supplements.9 A recent study of a French CF family" has suggested that
R297Q
represents a rare polymorphism, rather than a disease causing mutation, or that the length of a T tract in intron 8 may play a role in influencing the severity ofthe
R297Q
allele.
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31
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:31:31
status:
NEW
view ABCC7 p.Arg297Gln details
At present, it is uncertain if
R297Q
is a disease causing mutation.
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32
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:32:17
status:
NEW
view ABCC7 p.Arg297Gln details
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:32:31
status:
NEW
view ABCC7 p.Arg297Gln details
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:32:179
status:
NEW
view ABCC7 p.Arg297Gln details
Nevertheless, if
R297Q
in the h
uman
CFTR protein does indeed contribute to the cystic fibrosis phenotype, it is tempting to consider that an- ^*K'" other animal species, carrying
R297Q
in the homozygous state, might also show some of -'('- the symptoms of CF.
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33
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:33:17
status:
NEW
view ABCC7 p.Arg297Gln details
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:33:37
status:
NEW
view ABCC7 p.Arg297Gln details
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:33:180
status:
NEW
view ABCC7 p.Arg297Gln details
The ewe "G", who
is he
terozygous for
R297Q
, seems perfectly healthy.
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34
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:34:37
status:
NEW
view ABCC7 p.Arg297Gln details
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:34:85
status:
NEW
view ABCC7 p.Arg297Gln details
We are establishing a breeding progra
mme t
o obtain lambs that are homozygous for the
R297Q
variant.
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35
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:35:85
status:
NEW
view ABCC7 p.Arg297Gln details
We are establishing a breeding programme to obtain lambs that are homozygous for the
R297Q
variant.
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57
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:57:95
status:
NEW
view ABCC7 p.Arg297Gln details
9 Graham C, Goon P, Hill A, Cutting G, Curristan S, Nevin N. Identification of a new mutation (
R297Q
) in exon 7 of the CFTR gene in a Northern Ireland family.
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60
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:60:34
status:
NEW
view ABCC7 p.Arg297Gln details
Identification of a new mutation (
R297Q
) in exon 7 of the CFTR gene in a Northern Ireland family.
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61
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:61:93
status:
NEW
view ABCC7 p.Arg297Gln details
11 Dorval I, Jezequel P, Chauvel B, et al. French CF family genotype analysis shows that the
R297Q
mutation is a rare polymorphism.
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63
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:63:94
status:
NEW
view ABCC7 p.Arg297Gln details
12 Dorval I, Jezequel P, Roussey M, et al. A French CF family genetic analysis shows that the
R297Q
associated with the T7 allele in the intron 8 polypyrimidine track is not involved in the CF disease.
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65
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:65:93
status:
NEW
view ABCC7 p.Arg297Gln details
11 Dorval I, Jezequel P, Chauvel B, et al. French CF family genotype analysis shows that the
R297Q
mutation is a rare polymorphism.
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67
ABCC7 p.Arg297Gln
X
ABCC7 p.Arg297Gln 8818956:67:94
status:
NEW
view ABCC7 p.Arg297Gln details
12 Dorval I, Jezequel P, Roussey M, et al. A French CF family genetic analysis shows that the
R297Q
associated with the T7 allele in the intron 8 polypyrimidine track is not involved in the CF disease.
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