EGF c.1213_1215delinsTGT ;(p.V405C)

Variant ID: 4-110883042-GTG-TGT

NM_001963.4(EGF):c.1213_1215delinsTGT;(p.V405C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The neoepitope of the complement C5b-9 Membrane Attack Complex is formed by proximity of adjacent ancillary regions of C9.

Communications Biology
Bayly-Jones, Charles C; Ho, Bill H T BHT; Lau, Corinna C; Leung, Eleanor W W EWW; D'Andrea, Laura L; Lupton, Christopher J CJ; Ekkel, Susan M SM; Venugopal, Hariprasad H; Whisstock, James C JC; Mollnes, Tom E TE; Spicer, Bradley A BA; Dunstone, Michelle A MA
Publication Date: 2023-01-13

Variant appearance in text: EGF: V405C
PubMed Link: 36639734
Variant Present in the following documents:
  • 42003_2023_Article_4431.pdf
View BVdb publication page



The first transmembrane region of complement component-9 acts as a brake on its self-assembly.

Nature Communications
Spicer, Bradley A BA; Law, Ruby H P RHP; Caradoc-Davies, Tom T TT; Ekkel, Sue M SM; Bayly-Jones, Charles C; Pang, Siew-Siew SS; Conroy, Paul J PJ; Ramm, Georg G; Radjainia, Mazdak M; Venugopal, Hariprasad H; Whisstock, James C JC; Dunstone, Michelle A MA
Publication Date: 2018-08-15

Variant appearance in text: EGF: V405C
PubMed Link: 30111885
Variant Present in the following documents:
  • Main text
  • 41467_2018_5717_MOESM1_ESM.pdf
  • 41467_2018_Article_5717.pdf
View BVdb publication page