TTN c.454A>C ;(p.I152L)

Variant ID: 2-179665251-T-G

NM_001267550.1(TTN):c.454A>C;(p.I152L)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Improved Trimethylangelicin Analogs for Cystic Fibrosis: Design, Synthesis and Preliminary Screening.

International Journal Of Molecular Sciences
Vaccarin, Christian C; Gabbia, Daniela D; Franceschinis, Erica E; De Martin, Sara S; Roverso, Marco M; Bogialli, Sara S; Sacchetti, Gianni G; Tupini, Chiara C; Lampronti, Ilaria I; Gambari, Roberto R; Cabrini, Giulio G; Dechecchi, Maria Cristina MC; Tamanini, Anna A; Marzaro, Giovanni G; Chilin, Adriana A
Publication Date: 2022-09-29

Variant appearance in text: TMD: I152L
PubMed Link: 36232826
Variant Present in the following documents:
  • ijms-23-11528.pdf
View BVdb publication page



Can two wrongs make a right? F508del-CFTR ion channel rescue by second-site mutations in its transmembrane domains.

The Journal Of Biological Chemistry
Prins, Stella S; Corradi, Valentina V; Sheppard, David N DN; Tieleman, D Peter DP; Vergani, Paola P
Publication Date: 2022-03

Variant appearance in text: TMD: I152L
PubMed Link: 35065958
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Mcl-1 and Bok transmembrane domains: Unexpected players in the modulation of apoptosis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Lucendo, Estefanía E; Sancho, Mónica M; Lolicato, Fabio F; Javanainen, Matti M; Kulig, Waldemar W; Leiva, Diego D; Duart, Gerard G; Andreu-Fernández, Vicente V; Mingarro, Ismael I; Orzáez, Mar M
Publication Date: 2020-11-10

Variant appearance in text: TMD: I152L
PubMed Link: 33093207
Variant Present in the following documents:
  • Main text
View BVdb publication page



GM1 as Adjuvant of Innovative Therapies for Cystic Fibrosis Disease.

International Journal Of Molecular Sciences
Mancini, Giulia G; Loberto, Nicoletta N; Olioso, Debora D; Dechecchi, Maria Cristina MC; Cabrini, Giulio G; Mauri, Laura L; Bassi, Rosaria R; Schiumarini, Domitilla D; Chiricozzi, Elena E; Lippi, Giuseppe G; Pesce, Emanuela E; Sonnino, Sandro S; Pedemonte, Nicoletta N; Tamanini, Anna A; Aureli, Massimo M
Publication Date: 2020-06-24

Variant appearance in text: TMD: I152L
PubMed Link: 32599772
Variant Present in the following documents:
  • Main text
  • ijms-21-04486.pdf
View BVdb publication page



Intrinsic Structural Features of the Human IRE1α Transmembrane Domain Sense Membrane Lipid Saturation.

Cell Reports
Cho, Hyunju H; Stanzione, Francesca F; Oak, Amrita A; Kim, Geun Hyang GH; Yerneni, Sindura S; Qi, Ling L; Sum, Amadeu K AK; Chan, Christina C
Publication Date: 2019-04-02

Variant appearance in text: TMD: I152L
PubMed Link: 30943411
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bax transmembrane domain interacts with prosurvival Bcl-2 proteins in biological membranes.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Andreu-Fernández, Vicente V; Sancho, Mónica M; Genovés, Ainhoa A; Lucendo, Estefanía E; Todt, Franziska F; Lauterwasser, Joachim J; Funk, Kathrin K; Jahreis, Günther G; Pérez-Payá, Enrique E; Mingarro, Ismael I; Edlich, Frank F; Orzáez, Mar M
Publication Date: 2017-01-10

Variant appearance in text: TMD: I152L
PubMed Link: 28028215
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of hyperekplexia mutations identifies transmembrane domain rearrangements that mediate glycine receptor activation.

The Journal Of Biological Chemistry
Bode, Anna A; Lynch, Joseph W JW
Publication Date: 2013-11-22

Variant appearance in text: TMD: I152L
PubMed Link: 24097980
Variant Present in the following documents:
  • Main text
View BVdb publication page