PRNP c.518A>C ;(p.N173T)

Variant ID: 20-4680384-A-C

NM_000311.3(PRNP):c.518A>C;(p.N173T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Complex folding and misfolding effects of deer-specific amino acid substitutions in the β2-α2 loop of murine prion protein.

Scientific Reports
Agarwal, Sonya S; Döring, Kristina K; Gierusz, Leszek A LA; Iyer, Pooja P; Lane, Fiona M FM; Graham, James F JF; Goldmann, Wilfred W; Pinheiro, Teresa J T TJ; Gill, Andrew C AC
Publication Date: 2015-10-22

Variant appearance in text: PRNP: N173T
PubMed Link: 26490404
Variant Present in the following documents:
  • Main text
  • srep15528.pdf
View BVdb publication page



Structural requirements for efficient prion protein conversion: cofactors may promote a conversion-competent structure for PrP(C).

Prion
Gill, Andrew C AC; Agarwal, Sonya S; Pinheiro, Teresa J T TJ; Graham, James F JF
Publication Date: 2010

Variant appearance in text: CJD: N173T
PubMed Link: 20864807
Variant Present in the following documents:
  • Main text
View BVdb publication page