Summary of changes caused by ELA2 mutations
HNE sequence . | Glycosylation . | . | Fractionation . | Proteolytic activity . | Protein secretion . | Intracellular localization (HeLa) . | CPT-dependent apoptosis . | |
|---|---|---|---|---|---|---|---|---|
| . | ER . | G . | . | . | . | . | . | |
| WT | + | + | P2 + P3 | + | + | G | - | |
| C42R | + | - | P2 | - | - | ND | ND | |
| V72M | + | - | P2 | - | - | ND | ND | |
| InsPQ94 | + | - | P2 | - | - | ND | ND | |
| S97L | + | + | P2 + P3 | + | + | ND | - | |
| P110L | + | + | P2 + P3 | - | - | ND | + | |
| C122Y | + | - | P2 | - | - | C | ND | |
| ΔV145-C152 | + | - | P2 | - | - | C | + | |
| ΔV161-F170 | + | + | P2 | - | - | C | + | |
| P176R | + | + | P2 + P3 | - | - | C | ND | |
| R191Q | + | + | P2 + P3 | + | + | G | - | |
HNE sequence . | Glycosylation . | . | Fractionation . | Proteolytic activity . | Protein secretion . | Intracellular localization (HeLa) . | CPT-dependent apoptosis . | |
|---|---|---|---|---|---|---|---|---|
| . | ER . | G . | . | . | . | . | . | |
| WT | + | + | P2 + P3 | + | + | G | - | |
| C42R | + | - | P2 | - | - | ND | ND | |
| V72M | + | - | P2 | - | - | ND | ND | |
| InsPQ94 | + | - | P2 | - | - | ND | ND | |
| S97L | + | + | P2 + P3 | + | + | ND | - | |
| P110L | + | + | P2 + P3 | - | - | ND | + | |
| C122Y | + | - | P2 | - | - | C | ND | |
| ΔV145-C152 | + | - | P2 | - | - | C | + | |
| ΔV161-F170 | + | + | P2 | - | - | C | + | |
| P176R | + | + | P2 + P3 | - | - | C | ND | |
| R191Q | + | + | P2 + P3 | + | + | G | - | |
Indication of HNE protein glycosylation (high-mannose [ER] or complex glycosylation [Golgi (G)]), predominant HNE location after protein fractionation (P2: mitochondria, lysosomes, ER; P3: plasma membrane, secretory and other vesicles, Golgi complex), proteolytic activity, HNE protein secretion, and CPT-dependent apoptosis (+ indicates induction upon transgene-promoter induction; -, no induction upon transgene-promoter induction), and intracellular localization based on immunofluorescence analysis (C, cytoplasm; ND, not determined).