Evidence map›Paper›PMID 32712854›Full record

ArticleMolecular biology reports2020

Novel frameshift variant of the CFTR gene: S511Lfs*2 from phenotype to molecular predictions.

Thaiane Rispoli, Grazielle Motta Rodrigues, Mayara Jorgens Prado, Leonardo Araújo Pinto, Marcelo Tadday Rodrigues, Cynthia Rocha Dullius, Tarciana Grandi, Cláudia Maria Dornelles da Silva, José Eduardo Vargas, Maurício Menegatti Rigo and 1 more

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In one paragraph

Article in Molecular biology reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 85% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 0 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 5 institutions in 1 country.

Thaiane RispoliPrograma de Pós-Graduação em Biologia Celular e Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil. thaianerispoli@gmail.com.ORCID http://orcid.org/0000-0003-4421-8995
Grazielle Motta RodriguesCentro de Desenvolvimento Científico e Tecnológico, Secretaria da Saúde do Estado do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Mayara Jorgens PradoPrograma de Pós-Graduação em Biologia Celular e Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Leonardo Araújo PintoHospital São Lucas da PUCRS, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Marcelo Tadday RodriguesServiço de Fibrose Cística - Adultos, Serviço de Pneumologia, Hospital São Lucas da PUCRS, Porto Alegre, Rio Grande do Sul, Brazil.
Cynthia Rocha DulliusServiço de Fibrose Cística - Adultos, Serviço de Pneumologia, Hospital São Lucas da PUCRS, Porto Alegre, Rio Grande do Sul, Brazil.
Tarciana GrandiCentro de Desenvolvimento Científico e Tecnológico, Secretaria da Saúde do Estado do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Cláudia Maria Dornelles da SilvaCentro de Desenvolvimento Científico e Tecnológico, Secretaria da Saúde do Estado do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
José Eduardo VargasInstituto de Ciências Biológicas, Universidade de Passo Fundo, Passo Fundo, Rio Grande do Sul, Brazil.
Maurício Menegatti RigoPrograma de Pós-Graduação em Pediatria e Saúde da Criança, Pontifícia Universidade Católica do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Maria Lucia RossettiPrograma de Pós-Graduação em Biologia Celular e Molecular, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
Universidade Federal do Rio Grande do Sul · BRHospital São Lucas da PUCRS · BRFaculdade de Desenvolvimento do Rio Grande do Sul · BRPontifícia Universidade Católica do Rio Grande do Sul · BRUniversidade de Passo Fundo · BR

Funding

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior - Brasil 001FAPERGS 1260-2551/13-0
6 · The paper itself

Abstract

Cystic fibrosis (CF) is a genetic disease caused by variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. There are over 2,000 different pathogenic and non-pathogenic variants described in association with a broad clinical heterogeneity. In this work, we identified a novel variant S511Lfs*2 in CFTR gene that has not been reported in patients with CF. The patient was a female genotyped with c.1000C>T (legacy name: R334W) variant (pathogenic, CF-causing) and the novel variant (S511Lfs*2). We verified the amino acid sequence, the protein structure, and predicted the pathogenicity employing computational analysis. Our findings showed that S511Lfs*2 is a frameshift variant and suggest that it is associated with severe CF phenotype, as it leads to a lack of CFTR protein synthesis, and consequently the loss of its functional activity.

Indexed as

Frameshift MutationAdultCystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorFemaleHumansPhenotypeYoung AdultCFTR protein, humanCystic Fibrosis Transmembrane Conductance RegulatorCFTR geneCFTR proteinCystic fibrosisFrameshift variantS511Lfs*2 variant

Identifiers

PMID32712854
OpenAlexW3045103770

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.