TTN c.1262A>C ;(p.D421A)

Variant ID: 2-179659262-T-G

NM_001267550.1(TTN):c.1262A>C;(p.D421A)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Atg15 in Saccharomyces cerevisiae consists of two functionally distinct domains.

Molecular Biology Of The Cell
Hirata, Eri E; Shirai, Kyo K; Kawaoka, Tatsuya T; Sato, Kosuke K; Kodama, Fumito F; Suzuki, Kuninori K
Publication Date: 2021-04-15

Variant appearance in text: TMD: D421A
PubMed Link: 33625870
Variant Present in the following documents:
  • Main text
  • mbc-32-645.pdf
View BVdb publication page



Atherogenic LOX-1 signaling is controlled by SPPL2-mediated intramembrane proteolysis.

The Journal Of Experimental Medicine
Mentrup, Torben T; Theodorou, Kosta K; Cabrera-Cabrera, Florencia F; Helbig, Andreas O AO; Happ, Kathrin K; Gijbels, Marion M; Gradtke, Ann-Christine AC; Rabe, Björn B; Fukumori, Akio A; Steiner, Harald H; Tholey, Andreas A; Fluhrer, Regina R; Donners, Marjo M; Schröder, Bernd B
Publication Date: 2019-04-01

Variant appearance in text: TMD: D421A
PubMed Link: 30819724
Variant Present in the following documents:
  • Main text
  • JEM_20171438.pdf
View BVdb publication page



Proteolytic Processing of Neuregulin 1 Type III by Three Intramembrane-cleaving Proteases.

The Journal Of Biological Chemistry
Fleck, Daniel D; Voss, Matthias M; Brankatschk, Ben B; Giudici, Camilla C; Hampel, Heike H; Schwenk, Benjamin B; Edbauer, Dieter D; Fukumori, Akio A; Steiner, Harald H; Kremmer, Elisabeth E; Haug-Kröper, Martina M; Rossner, Moritz J MJ; Fluhrer, Regina R; Willem, Michael M; Haass, Christian C
Publication Date: 2016-01-01

Variant appearance in text: TMD: D421A
PubMed Link: 26574544
Variant Present in the following documents:
  • Main text
View BVdb publication page



Foamy virus envelope protein is a substrate for signal peptide peptidase-like 3 (SPPL3).

The Journal Of Biological Chemistry
Voss, Matthias M; Fukumori, Akio A; Kuhn, Peer-Hendrik PH; Künzel, Ulrike U; Klier, Bärbel B; Grammer, Gudula G; Haug-Kröper, Martina M; Kremmer, Elisabeth E; Lichtenthaler, Stefan F SF; Steiner, Harald H; Schröder, Bernd B; Haass, Christian C; Fluhrer, Regina R
Publication Date: 2012-12-21

Variant appearance in text: TMD: D421A
PubMed Link: 23132852
Variant Present in the following documents:
  • Main text
View BVdb publication page



The α-helical content of the transmembrane domain of the British dementia protein-2 (Bri2) determines its processing by signal peptide peptidase-like 2b (SPPL2b).

The Journal Of Biological Chemistry
Fluhrer, Regina R; Martin, Lucas L; Klier, Bärbel B; Haug-Kröper, Martina M; Grammer, Gudula G; Nuscher, Brigitte B; Haass, Christian C
Publication Date: 2012-02-10

Variant appearance in text: TMD: D421A
PubMed Link: 22194595
Variant Present in the following documents:
  • Main text
View BVdb publication page