ABCC7 p.His949Leu
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PMID: 16189704
[PubMed]
McGinniss MJ et al: "Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples."
No.
Sentence
Comment
7
We ascertained ten novel sequence variants that are potentially disease-associated: two deletions (c.1641AG>T, c.2949_2853delTACTC), seven missense mutations (p.S158T, p.G451V, p.K481E, p.C491S, p.H949L, p.T1036N, p.F1099L), and one complex allele ([p.356_A357del; p.358I]).
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ABCC7 p.His949Leu 16189704:7:197
status: NEW86 Three novel missense mutations (p.S158T, p.K481E and p.H949L) are consistent with being disease-associated alleles, but the evidence for this was not as strong as for the three previously mentioned.
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ABCC7 p.His949Leu 16189704:86:55
status: NEW89 One patient (p.H949L/wt) was positive for the 5T variant in intron 8 polyT locus, but the parental samples were not available to ascertain if the 5T allele was on the same or opposite chromosome as the p.H949L mutation.
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ABCC7 p.His949Leu 16189704:89:15
status: NEWX
ABCC7 p.His949Leu 16189704:89:204
status: NEW
PMID: 21931512
[PubMed]
Polizzi A et al: "Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele."
No.
Sentence
Comment
3
We ascertained five patients with a novel complex CFTR allele, with two mutations, H939R and H949L, inherited in cis in the same exon of CFTR gene, and one different mutation per patient inherited in trans in a wide population of 289 Caucasian CF subjects from South Italy.
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ABCC7 p.His949Leu 21931512:3:93
status: NEW17 In 2005, we have described for the first time in the CF mutation database, the missense mutation H949L, a nucleotide change of A to T at base pair 2978 in exon 15 of CFTR gene, resulting in a substitution of histidine residue to leucine at codon 949, as potentially disease-associated allele variation.
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ABCC7 p.His949Leu 21931512:17:97
status: NEW25 The Cystic Fibrosis Mutation Database lists the H939R missense mutation, a nucleotide substitution of A to G at base pair 2948 in the same exon of the mutation H949L, corresponding to a histidine to arginine amino acid change at codon 939.
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ABCC7 p.His949Leu 21931512:25:160
status: NEW43 During the genetic characterization of the 289 enrolled CF patients a new complex allele [H939R;H949L] (Human Genome Variation Society nomenclature c:[2816A>G;2846A>T] http://www.hgvs.org/ mutnomen) was found in five unrelated patients, in whom the two CF-associated mutations, H939R and H949L, were both carried in the exon 15 on the same allele, as showed in Figure 1.
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ABCC7 p.His949Leu 21931512:43:288
status: NEW46 We did not find patients bearing the H939R or the H949L mutations alone.
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ABCC7 p.His949Leu 21931512:46:50
status: NEW48 Continuous arrows show the H939R mutation while the dashed arrows show the H949L mutation.
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ABCC7 p.His949Leu 21931512:48:75
status: NEW70 We speculate that both mutations H939R and H949L might affect the second NBD of CFTR and have a role in altering the conductance of the chloride channel, but to our knowledge there are no reports on their functions.
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ABCC7 p.His949Leu 21931512:70:43
status: NEW77 The complex alleles and their role in disease pathogenesis still remain a challenge for both researchers and clinicians, thus more information on our newly discovered complex allele [H939R;H949L] or on the H939R and the H949L mutations alone would help to study the effect on the phenotype of these rare mutations.
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ABCC7 p.His949Leu 21931512:77:220
status: NEW