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Literature summary for 3.4.21.45 extracted from

  • Kavanagh, D.; Kemp, E.J.; Mayland, E.; Winney, R.J.; Duffield, J.S.; Warwick, G.; Richards, A.; Ward, R.; Goodship, J.A.; Goodship, T.H.
    Mutations in complement factor I predispose to development of atypical hemolytic uremic syndrome (2005), J. Am. Soc. Nephrol., 16, 2150-2155.
    View publication on PubMed

Protein Variants

Protein Variants Comment Organism
D506V leads to partial IF-deficiency Homo sapiens
additional information del 922C, leads to partial IF-deficiency Homo sapiens
W127X stop-codon, leads to partial IF-deficiency Homo sapiens

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
58000
-
SDS-PAGE Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
complement component C3b + H2O Homo sapiens
-
complement component iC3b a major opsonin ?
complement component C4b + H2O Homo sapiens
-
?
-
?

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
patients with hemolytic uremic syndrome
-

Source Tissue

Source Tissue Comment Organism Textmining
blood plasma
-
Homo sapiens
-

Storage Stability

Storage Stability Organism
-80°C Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
complement component C3b + H2O
-
Homo sapiens complement component iC3b a major opsonin ?
complement component C4b + H2O
-
Homo sapiens ?
-
?

Synonyms

Synonyms Comment Organism
IF
-
Homo sapiens