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Literature summary for 3.4.21.108 extracted from

  • Simon-Sanchez, J.; Singleton, A.B.
    Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls (2008), Hum. Mol. Genet., 17, 1988-1993.
    View publication on PubMedView publication on EuropePMC

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