FH aHUS Mutation Database ©
Statistics of database
There are currently 74 Factor H mutations, 10 Factor I mutations and 25 MCP mutations linked with
HUS patients within this database.
There are also 5 mutations within FH that are associated with MPGN patients.
- Stats comparing all the mutations within the database (FH, FI and MCP)
- Stats for mutations within FH
- Stats for mutations within FI
- Stats for mutations within MCP
Percentage of mutations for each protein
| No.Of Mutations | Percentage | ||
|---|---|---|---|
| FH |  | 113 | 61% |
| FI |  | 28 | 15% |
| MCP |  | 44 | 24% |
Percentage of different phenotypes for each protein
| No.Of Mutations | Percentage | ||
|---|---|---|---|
| Type I (FH) | | 21 | 11% |
| Type I (FI) | | 11 | 6% |
| Type I (MCP) | | 10 | 5% |
| Type II (FH) | | 26 | 14% |
| Type II (FI) | | 5 | 3% |
| Type II (MCP) | | 4 | 2% |
| Type None (FH) | | 21 | 11% |
| Type None (FI) | | 11 | 6% |
| Type None (MCP) | | 15 | 8% |
| Undefined (FH) | | 45 | 24% |
| Undefined (FI) | | 1 | 1% |
| Undefined (MCP) | | 15 | 8% |
Percentage of different types of mutation for each protein
| No.Of Mutations | Percentage | ||
|---|---|---|---|
| Undefined (FH) | | 1 | 1% |
| Deletion (FH) | | 13 | 7% |
| Deletion (FI) | | 2 | 1% |
| Deletion (MCP) | | 7 | 4% |
| Disease Risk Polymorphism (FH) | | 9 | 5% |
| Disease Risk Polymorphism (MCP) | | 7 | 4% |
| Insertion (FH) | | 1 | 1% |
| Insertion (FI) | | 3 | 2% |
| Missense (FH) | | 58 | 31% |
| Missense (FI) | | 6 | 3% |
| Missense (MCP) | | 10 | 5% |
| Non-Disease Causing Polymorphism (FH) | | 17 | 9% |
| Non-Disease Causing Polymorphism (FI) | | 7 | 4% |
| Non-Disease Causing Polymorphism (MCP) | | 7 | 4% |
| Nonsense (FH) | | 7 | 4% |
| Nonsense (FI) | | 3 | 2% |
| Nonsense (MCP) | | 2 | 1% |
| Polymorphism (FH) | | 5 | 3% |
| Polymorphism (FI) | | 4 | 2% |
| Polymorphism (MCP) | | 5 | 3% |
| Splice Site (FH) | | 2 | 1% |
| Splice Site (FI) | | 3 | 2% |
| Splice Site (MCP) | | 6 | 3% |
Percentage of mutations for each Condition
| No.Of Mutations | Percentage | ||
|---|---|---|---|
| Undefined | | 5 | 3% |
| AMD | | 4 | 2% |
| FI Deficiency | | 6 | 3% |
| Glomerulonephritis | | 1 | 1% |
| HUS | | 128 | 69% |
| HUS, AMD | | 1 | 1% |
| MPGN | | 6 | 3% |
| None | | 34 | 18% |
Percentage of mutations with data fields complete
| No.Of Mutations | Percentage | ||
|---|---|---|---|
| Data on FH Level | | 86 | 80% |
| Data on C3 Level | | 75 | 69% |
| Data for Genotype | | 100 | 93% |
| Data for Inheritance | | 53 | 49% |
| Data for Clinical History | | 34 | 31% |
| All data fields complete | | 5 | 5% |
| Total Records | | 108 | 100% |
Distribution of different mutation types within FH
| No.Of Mutations | Percentage | ||
|---|---|---|---|
| Undefined | | 1 | 1% |
| Deletion | | 13 | 12% |
| Disease Risk Polymorphism | | 9 | 8% |
| Insertion | | 1 | 1% |
| Missense | | 58 | 51% |
| Non-Disease Causing Polymorphism | | 17 | 15% |
| Nonsense | | 7 | 6% |
| Polymorphism | | 5 | 4% |
| Splice Site | | 2 | 2% |
Percentage of mutations in each domain of FH
| No.Of Mutations | Percentage | ||
|---|---|---|---|
| Introgenic Region | | 2 | 2% |
| SCR 1 | | 4 | 4% |
| SCR 2 | | 3 | 3% |
| SCR 3 | | 1 | 1% |
| SCR 4 | | 3 | 3% |
| LDLR 1 | | 1 | 1% |
| SCR 5 | | 1 | 1% |
| SCR 6 | | 1 | 1% |
| Transmembrane Region | | 1 | 1% |
| SCR 7 | | 4 | 4% |
| SCR 8 | | 3 | 3% |
| SCR 9 | | 1 | 1% |
| SCR 10 | | 1 | 1% |
| SCR 11 | | 4 | 4% |
| SCR 12 | | 2 | 2% |
| SCR 13 | | 3 | 3% |
| SCR 14 | | 2 | 2% |
| SCR 15 | | 7 | 7% |
| SCR 16 | | 8 | 8% |
| Linker Region 16 | | 1 | 1% |
| SCR 17 | | 9 | 9% |
| SCR 18 | | 5 | 5% |
| SCR 19 | | 10 | 10% |
| SCR 20 | | 28 | 27% |
Percentage of mutations within FH with different phenotypes
| No.Of Mutations | Percentage | ||
|---|---|---|---|
| Type I | | 21 | 19% |
| Type II | | 26 | 23% |
| Type None | | 21 | 19% |
| Undefined | | 45 | 40% |
Distribution of FH mutations inheritance
| No.Of Mutations | Percentage | ||
|---|---|---|---|
| Undefined | | 36 | 43% |
| Familial | | 14 | 17% |
| Recurrent | | 2 | 2% |
| Sporadic | | 31 | 37% |
Distribution of different mutation types within FI
| No.Of Mutations | Percentage | ||
|---|---|---|---|
| Deletion | | 2 | 7% |
| Insertion | | 3 | 11% |
| Missense | | 6 | 21% |
| Non-Disease Causing Polymorphism | | 7 | 25% |
| Nonsense | | 3 | 11% |
| Polymorphism | | 4 | 14% |
| Splice Site | | 3 | 11% |
Percentage of mutations in each domain of FI
| No.Of Mutations | Percentage | ||
|---|---|---|---|
| Introgenic Region | | 3 | 20% |
| CD5 | | 1 | 7% |
| LDLR 1 | | 2 | 13% |
| LDLR 2 | | 5 | 33% |
| Linker Region 5 | | 3 | 20% |
| Serine Protease | | 1 | 7% |
Percentage of mutations within FI with different phenotypes
| No.Of Mutations | Percentage | ||
|---|---|---|---|
| Type I | | 11 | 39% |
| Type II | | 5 | 18% |
| Type None | | 11 | 39% |
| Undefined | | 1 | 4% |
Distribution of different mutation types within MCP
| No.Of Mutations | Percentage | ||
|---|---|---|---|
| Deletion | | 7 | 16% |
| Disease Risk Polymorphism | | 7 | 16% |
| Missense | | 10 | 23% |
| Non-Disease Causing Polymorphism | | 7 | 16% |
| Nonsense | | 2 | 5% |
| Polymorphism | | 5 | 11% |
| Splice Site | | 6 | 14% |
Percentage of mutations in each domain of MCP
| No.Of Mutations | Percentage | ||
|---|---|---|---|
| Introgenic Region | | 9 | 24% |
| Promoter Region | | 3 | 8% |
| SCR 1 | | 5 | 13% |
| SCR 2 | | 3 | 8% |
| SCR 3 | | 4 | 11% |
| SCR 4 | | 11 | 29% |
| Ser/Thr Rich Region | | 2 | 5% |
| Transmembrane Region | | 1 | 3% |
Percentage of mutations within MCP with different phenotypes
| No.Of Mutations | Percentage | ||
|---|---|---|---|
| Type I | | 10 | 23% |
| Type II | | 4 | 9% |
| Type None | | 15 | 34% |
| Undefined | | 15 | 34% |