TTN c.61A>T ;(p.S21C)

Variant ID: 2-179669309-T-A

NM_001267550.1(TTN):c.61A>T;(p.S21C)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


MTCH2 is a mitochondrial outer membrane protein insertase.

Science (New York, N.Y.)
Guna, Alina A; Stevens, Taylor A TA; Inglis, Alison J AJ; Replogle, Joseph M JM; Esantsi, Theodore K TK; Muthukumar, Gayathri G; Shaffer, Kelly C L KCL; Wang, Maxine L ML; Pogson, Angela N AN; Jones, Jeff J JJ; Lomenick, Brett B; Chou, Tsui-Fen TF; Weissman, Jonathan S JS; Voorhees, Rebecca M RM
Publication Date: 2022-10-21

Variant appearance in text: TMD: S21C
PubMed Link: 36264797
Variant Present in the following documents:
  • Main text
  • nihms-1847457.pdf
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: TTN: 61A>T; Ser21Cys
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant.

Basic Research In Cardiology
Jiang, He H; Hooper, Charlotte C; Kelly, Matthew M; Steeples, Violetta V; Simon, Jillian N JN; Beglov, Julia J; Azad, Amar J AJ; Leinhos, Lisa L; Bennett, Pauline P; Ehler, Elisabeth E; Kalisch-Smith, Jacinta I JI; Sparrow, Duncan B DB; Fischer, Roman R; Heilig, Raphael R; Isackson, Henrik H; Ehsan, Mehroz M; Patone, Giannino G; Huebner, Norbert N; Davies, Benjamin B; Watkins, Hugh H; Gehmlich, Katja K
Publication Date: 2021-02-26

Variant appearance in text: TTN: S21C
PubMed Link: 33637999
Variant Present in the following documents:
  • Main text
  • 395_2021_Article_853.pdf
View BVdb publication page



Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant.

Basic Research In Cardiology
Jiang, He H; Hooper, Charlotte C; Kelly, Matthew M; Steeples, Violetta V; Simon, Jillian N JN; Beglov, Julia J; Azad, Amar J AJ; Leinhos, Lisa L; Bennett, Pauline P; Ehler, Elisabeth E; Kalisch-Smith, Jacinta I JI; Sparrow, Duncan B DB; Fischer, Roman R; Heilig, Raphael R; Isackson, Henrik H; Ehsan, Mehroz M; Patone, Giannino G; Huebner, Norbert N; Davies, Benjamin B; Watkins, Hugh H; Gehmlich, Katja K
Publication Date: 2021-02-26

Variant appearance in text: TTN: S21C
PubMed Link: 33637999
Variant Present in the following documents:
  • Main text
  • 395_2021_Article_853.pdf
View BVdb publication page



The molecular mechanism of cotranslational membrane protein recognition and targeting by SecA.

Nature Structural & Molecular Biology
Wang, Shuai S; Jomaa, Ahmad A; Jaskolowski, Mateusz M; Yang, Chien-I CI; Ban, Nenad N; Shan, Shu-Ou SO
Publication Date: 2019-10

Variant appearance in text: TMD: S21C
PubMed Link: 31570874
Variant Present in the following documents:
  • Main text
  • nihms-1537248.pdf
View BVdb publication page