Pigv^em1Pmk

CRISPR/Cas9 technology introduced a C to A change at position 1022 (c.1022C>A) resulting in an alanine to glutamate substitution at amino acid 341 (p.A341E). Three additional silent mutations were identified. This is the most prevalent hypomorphic missense mutation in European individuals with glycosylphosphatidylinositol (GPI)-anchor biosynthesis deficiency. (J:299612)