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Literature summary for 4.2.1.2 extracted from

  • Bayley, J.; Launonen, V.; Tomlinson, I.P.
    The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency (2008), BMC Med. Genet., 9, 20.
    View publication on PubMedView publication on EuropePMC

Protein Variants

Protein Variants Comment Organism
A117P missense mutation Homo sapiens
A239T missense mutation Homo sapiens
A274T missense mutation Homo sapiens
A308Y the mutation is associated with fumarase deficiency Homo sapiens
A385D missense mutation Homo sapiens
C333Y missense mutation Homo sapiens
D425V the mutation is associated with fumarase deficiency Homo sapiens
E355K missense mutation Homo sapiens
E362Q the mutation is associated with fumarase deficiency Homo sapiens
F312C the mutation is associated with fumarase deficiency Homo sapiens
G282V missense mutation Homo sapiens
G397R missense mutation Homo sapiens
H135R missense mutation Homo sapiens
H180R missense mutation Homo sapiens
H318L the mutation is associated with fumarase deficiency Homo sapiens
H402C the mutation is associated with fumarase deficiency Homo sapiens
I229T missense mutation Homo sapiens
K230R missense mutation Homo sapiens
K424R missense mutation Homo sapiens
K467R missense mutation Homo sapiens
L335P missense mutation Homo sapiens
L507P missense mutation Homo sapiens
M195T missense mutation Homo sapiens
M454I missense mutation Homo sapiens
N107T missense mutation Homo sapiens
N188S missense mutation Homo sapiens
N310Y missense mutation Homo sapiens
N340K missense mutation Homo sapiens
N362K the mutation is associated with renal cell cancer Homo sapiens
P174R missense mutation Homo sapiens
P192L missense mutation Homo sapiens
P369S the mutation is associated with fumarase deficiency Homo sapiens
Q142K missense mutation Homo sapiens
Q185R missense mutation Homo sapiens
Q376P the mutation is associated with fumarase deficiency Homo sapiens
Q439P the mutation is associated with renal cell cancer Homo sapiens
R101P the mutation is associated with renal cell cancer Homo sapiens
R101X the mutation is associated with renal cell cancer Homo sapiens
R160G missense mutation Homo sapiens
R190H the mutation is associated with renal cell cancer Homo sapiens
R233C the mutation is associated with renal cell cancer Homo sapiens
R233H the mutation is associated with renal cell cancer Homo sapiens
R233L the mutation is associated with renal cell cancer Homo sapiens
R343X the mutation is associated with renal cell cancer Homo sapiens
R51E missense mutation Homo sapiens
S158I missense mutation Homo sapiens
S187L missense mutation Homo sapiens
S365G missense mutation Homo sapiens
S365N missense mutation Homo sapiens
S41P the mutation is associated with renal cell cancer Homo sapiens
T330P missense mutation Homo sapiens
V322D missense mutation Homo sapiens
V394L missense mutation Homo sapiens
Y465C missense mutation Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Synonyms

Synonyms Comment Organism
fumarase
-
Homo sapiens