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Literature summary for 3.4.21.108 extracted from
- Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls (2008), Hum. Mol. Genet., 17, 1988-1993.
Application
| Application | Comment | Organism |
|---|---|---|
| medicine | mutations of the OMI/HTRA2 gene are linked to Parkinsons disease | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| A141S | HtrA2 variant | Homo sapiens |
| A227S | HtrA2 variant | Homo sapiens |
| F172V | HtrA2 variant | Homo sapiens |
| G399S | HtrA2 variant | Homo sapiens |
| L118L | HtrA2 variant | Homo sapiens |
| L367L | HtrA2 variant | Homo sapiens |
| additional information | rs2231248, rs2241027 and rs2241028, HtrA2 variants | Homo sapiens |
| P128L | HtrA2 variant | Homo sapiens |
| R209R | HtrA2 variant | Homo sapiens |
| V109V | HtrA2 variant | Homo sapiens |
| W12C | HtrA2 variant | Homo sapiens |
Molecular Weight [Da]
| Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
|---|---|---|---|
| 48840 | - |
- |
Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | O43464 | - |
- |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| Omi/HtrA2 | - |
Homo sapiens |
| serine protease | - |
Homo sapiens |
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