Table 2 Genetic results of the patients
From: Turkish pediatric atypical hemolytic uremic syndrome registry: initial analysis of 146 patients
Gene | Screened n (%)a | Variation n (%)b | Variant (dbSNP database) | Predicted aminoacid change | Zygosity | MAF_1000G | MAF_ESP 6500 | SIFT predictionc (score) | PolyPhen predictiond (score) | Mutation Taster predictione (score) | HSF predictionf | Ref |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFH (NM_000186.3) | ||||||||||||
64 (56.6) | 5 (7.8) | |||||||||||
c.3530A>G | p.Tyr1177Cys | Hom | NR | NR | Tolarated (0.19) | Probably damaging (0.996) | Polymorphism (0.99) | NA | [22] | |||
c.2850G>T (rs149474608) | p.Gln950His | Het | <0.01 | <0.01 | Deleterious (0.049) | Probably damaging (0.96) | Polymorphism (0.99) | NA | [26] | |||
c.2127_2129del | p.Tyr711del | Het | NR | NR | NA | NA | Disease causing (0.54) | NA | Novel | |||
c.3148A>T (rs35274867) | p.Asn1050Tyr | Het | 0.01 | 0.01 | Tolarated (0.08) | Benign (0.016) | Polymorphism (0.99) | NA | [27] | |||
c.3133+1G>A | Splice site | Het | NR | NR | NA | NA | N/A | Broken WT Donor Site | Novel | |||
CFI (NM_000204.3) | ||||||||||||
69 (61.0) | 1 (1.4) | |||||||||||
c.608C>T (rs138346388) | p.Thr203Ile | Het | <0.01 | <0.01 | Tolarated (0.16) | Benign (0.051) | Polymorphism (0.99) | NA | [28] | |||
MCP (NM_002389) | ||||||||||||
49 (43.3) | 7 (14.2) | |||||||||||
c.535G>C (rs779174212) | p.Glu179Gln | Hom | <0.01 | <0.01 | Tolarated (0.33) | Benign (0.023) | Polymorphism (0.99) | NA | [29] | |||
c.841C>T | p.Pro281Ser | Hom | NR | NR | Damaging (0) | Probably damaging (0.99) | Disease causing (0.85) | NA | Novel | |||
c.841C>T | p.Pro281Ser | Het | NR | NR | Damaging (0) | Probably damaging (0.99) | Disease causing (0.85) | NA | Novel | |||
c.476-2A>G | Splice site | Hom | NR | NR | NA | NA | NA | Broken WT Acceptor Site | Novel | |||
c.476-2A>G | Splice site | Hom | NR | NR | NA | NA | NA | Broken WT Acceptor Site | Novel | |||
c.286+2T>G | Splice site | Hom | NR | NR | NA | NA | NA | Broken WT Donor Site | [30] | |||
c.1027+5G>T | Splice site | Hom | NR | NR | NA | NA | NA | Broken WT Donor Site | [31] | |||
CFB (NM_001710) | ||||||||||||
62 (54.8) | 1 (1.6) | |||||||||||
c.125T>C | p.Val42Ala | Het | NR | NR | Tolarated (0.19) | Benign (0.12) | Disease causing (0.94) | NA | Novel | |||
C3 (NM_000064) | ||||||||||||
35 (30.9) | 4 (11.4) | |||||||||||
c.537_539del | p.Leu180del | Het | NR | NR | NA | NA | Polymorphism (0.99) | NA | Novel | |||
c.3125G>T | p.Arg1042Leu | Het | NR | NR | Damaging (0.03) | Probably damaging (0.99) | Disease causing (0.99) | NA | [17] | |||
c.4148C>A (rs139100972) | p.Thr1383Asn | Het | NR | <0.01 | Tolarated (0.5) | Benign (0.36) | Polymorphism (0.99) | NA | [3] | |||
c.1976-6C>T | Splice site | Het | NR | NR | NA | NA | NA | Probably no impact | Novel | |||
DGKE(NM_003647) | ||||||||||||
67 (59.2) | 6 (8.9) | |||||||||||
c. 1009C>T (rs762576212) | p.Arg337Stop | Hom | NR | <0.01 | NA | NA | Disease causing (1) | NA | in dbSNP | |||
c.118_121dup | p.Ser41Metfs*2 | Hom | NR | NR | NA | NA | Disease causing (1) | NA | Novel | |||
c.607_610del | p.Lys203Glnfs*6 | Hom | NR | NR | NA | NA | Disease causing (1) | NA | Novel | |||
c.263_264insGGG | p.Asp88Glufs*84 | C-Het | NR | NR | NA | NA | Disease causing | NA | Novel | |||
CGCCA/c.76del | p.Thr26Argfs*143 | NR | NR | NA | NA | Disease causing (1) | Novel | |||||
c. 427C>T | p.Gln143Stop | C-Het | NR | NR | NA | NA | Disease causing | NA | Novel | |||
c.1133C>G | p.Pro378Arg | NR | <0.01 | Damaging (0) | Possibly damaging (0.93) | Disease causing (1) | Novel | |||||
c.793A>C | p.Thr265Pro | Het | NR | NR | Tolarated (0.08) | Benign (0.43) | Disease causing (0.99) | NA | Novel | |||
Combined genetic abnormalities | ||||||||||||
CFH | c.3644G>A (rs121913051) | p.Arg1215Gln | Het | NR | NR | Tolarated (0.19) | Probably damaging (0.99) | Polymorphism (0.99) | NA | [32] | ||
CFB | c.1135C>T | p.Arg379Cys | Het | NR | NR | Damaging (0.01) | Probably damaging (0.99) | Polymorphism (0.97) | NA | Novel | ||
CFB | c.1050G>T | p.Lys350Asn | C-Het | NR | NR | T olarated (0.14) | Probably damaging (0.99) | Polymorphism (0.81) | NA | [33] | ||
c.1697A>C (rs45484591) | p.Glu566Ala | 0.01 | 0 . 0 1 | Tolarated (0.73) | Benign (0) | Polymorphism (0.99) | NA | [34] | ||||
Heterozygous CFHR1-3 deletion | ||||||||||||
CFB | c.397G>A | p.Asp133Asn | Het | NR | NR | Damaging (0.05) | Benign (0.014) | Polymorphism (0.7) | NA | Novel | ||
Anti-CFH antibody associated with homozygous CFHR1-3 deletion | ||||||||||||
CFHR5 (NM_030787) | c.53dup | p.Glu19Argfs*6 | Het | NR | NR | NA | NA | Disease causing (1) | NA | Novel | ||
Anti-CFH antibody associated with homozygous CFHR1-3 deletion | ||||||||||||