TTN c.1459_1460delinsGC ;(p.K487A)

Variant ID: 2-179658207-TT-GC

NM_001267550.1(TTN):c.1459_1460delinsGC;(p.K487A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutagenesis separates ATPase and thioesterase activities of the peroxisomal ABC transporter, Comatose.

Scientific Reports
Carrier, David J DJ; van Roermund, Carlo W T CWT; Schaedler, Theresia A TA; Rong, Hong Lin HL; IJlst, Lodewijk L; Wanders, Ronald J A RJA; Baldwin, Stephen A SA; Waterham, Hans R HR; Theodoulou, Frederica L FL; Baker, Alison A
Publication Date: 2019-07-19

Variant appearance in text: TMD: K487A
PubMed Link: 31324846
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_46685.pdf
View BVdb publication page



Mutations in the Arabidopsis peroxisomal ABC transporter COMATOSE allow differentiation between multiple functions in planta: insights from an allelic series.

Molecular Biology Of The Cell
Dietrich, Daniela D; Schmuths, Heike H; De Marcos Lousa, Carine C; Baldwin, Jocelyn M JM; Baldwin, Stephen A SA; Baker, Alison A; Theodoulou, Frederica L FL; Holdsworth, Michael J MJ
Publication Date: 2009-01

Variant appearance in text: TMD: K487A
PubMed Link: 19019987
Variant Present in the following documents:
  • Main text
View BVdb publication page