This data was extracted from Medline abstracts and full texts (when available) in an automated manner.
The table below describes the selected point mutation and provides links to other documents. The sentence(s) where the point mutation D178N was found are listed after the table.
The mutated residues are also indicated in the family sequence alignments and hyperlinked to the corresponding mutation pages.
|General numbering (PrionDB):||-|
|Other point mutations / same protein / same position||Point mutations at position 178 in PRIO_HUMAN|
|Other point mutations / same protein||List of mutations in PRIO_HUMAN|
Mammalian prion proteins|
Prion proteins (PRP, PRNP)
|Other point mutations / same position||
Position 178 in Mammalian prion proteins family |
Position 178 in Prion proteins (PRP, PRNP) family
|Reference:||Novel twelve-generation kindred of fatal familial insomnia from germany representing the entire spectrum of disease expression.|
Harder A, Jendroska K, Kreuz F, Wirth T, Schafranka C, Karnatz N, Theallier-Janko A, Dreier J, Lohan K, Emmerich D, Cervos-Navarro J, Windl O, Kretzschmar HA, Nurnberg P, Witkowski R
Am J Med Genet 1999 Dec 3;87(4):311-6.
|Other point mutations / same article||List|
|Validation status||True positive|