Database CFIbase
Version 1.1
File cfipub.txt
Date 16-Jun-2011
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/CFIbase/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF99.html
Gene CFI
Disease Factor I deficiency
OMIM 217030
GDB 120077
Sequence IDRefSeq:D0040; IDRefSeq:C0040; UniProt:P05156
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments previously known as CFIbase
Comments sequence entry reference in every entry
//
ID S90N(1),=; standard; MUTATION;
Accession I0015
Systematic name Allele 1: g.36359G>A, c.269G>A, r.269g>a, p.Ser90Asn
Original code P.4
Description Allele 1: A point mutation in the exon 2 leading to
Description an amino acid change
Date 01-Jul-2010 (Rel. 1, Created)
Date 01-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18557729
RefAuthors Le Quintrec, M., Lionet, A., Kamar, N., Karras, A.,
RefAuthors Barbier, S., Buchler, M., Fakhouri, F., Provost, F.,
RefAuthors Fridman, W. H., Thervet, E., Legendre, C., Zuber, J.,
RefAuthors Fremeaux-Bacchi, V.
RefTitle Complement mutation-associated de novo thrombotic
RefTitle microangiopathy following kidney transplantation.
RefLoc Am J Transplant:1694-1701 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0040: 36359
Feature /change: g -> a
Feature /genomic_region: exon; 2
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0040; GI:182606; CFIC: 283
Feature /codon: agt -> aat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05156; CFAI_HUMAN: 90
Feature /change: S -> N
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms IgA nephritis
Age 28
Sex XX
Ethnic origin France
Comment Kidney transplanted and plasma exchange was done.
//
ID G162D(1),=; standard; MUTATION; SRCR,
Accession I0013
Systematic name Allele 1: g.41282G>A, c.485G>A, r.485g>a, p.Gly162Asp
Original code P.1
Description Allele 1: A point mutation in the exon 4 leading to
Description an amino acid change in the SRCR domain
Date 01-Jul-2010 (Rel. 1, Created)
Date 01-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18557729
RefAuthors Le Quintrec, M., Lionet, A., Kamar, N., Karras, A.,
RefAuthors Barbier, S., Buchler, M., Fakhouri, F., Provost, F.,
RefAuthors Fridman, W. H., Thervet, E., Legendre, C., Zuber, J.,
RefAuthors Fremeaux-Bacchi, V.
RefTitle Complement mutation-associated de novo thrombotic
RefTitle microangiopathy following kidney transplantation.
RefLoc Am J Transplant:1694-1701 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0040: 41282
Feature /change: g -> a
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0040; GI:182606; CFIC: 499
Feature /codon: ggt -> gat; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05156; CFAI_HUMAN: 162
Feature /change: G -> D
Feature /domain: SRCR
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms nephroangiosclerosis
Age 47
Sex XX
Ethnic origin France
Comment Kidney transplanted and plasma exchange was done.The
Comment The patient carried mutation in CFH gene also.
Comment CFHbase; H0101
//
ID H183R(1); standard; MUTATION; SRCR
Accession I0012
Systematic name Allele 1: g.41345A>G, c.548A>G, r.548a>g, p.His183Arg
Original code Patient 1
Description Allele 1: A point mutation in the exon 4 leading to an
Description amino acid change in the SRCR domain
Date 28-Apr-2008 (Rel. 1, Created)
Date 28-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18371543
RefAuthors Boyer, O., Noel, L. H., Balzamo, E., Guest, G., Biebuyck,
RefAuthors N., Charbit, M., Salomon, R., Fremeaux-Bacchi, V.,
RefAuthors Niaudet, P.
RefTitle Complement factor H deficiency and posttransplantation
RefTitle glomerulonephritis with isolated C3 deposits.
RefLoc Am J Kidney Dis:671-677 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0040: 41345
Feature /change: a -> g
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0040; GI:182606; CFIC: 562
Feature /codon: cat -> cgt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05156; CFAI_HUMAN: 183
Feature /change: H -> R
Feature /domain: SRCR
Age 1,4
Sex XY
Ethnic origin Negroid; Africa
Comment Patient has also CFH: c.2300_2301insA and MCP: c.796G>A
Comment mutations.
//
ID C247G(1a),C247G(1a); standard; MUTATION; LDL-RA1,LDL-RA1
Accession I0007
Systematic name Allele 1 and 2: g.42416T>G, c.739T>G, r.739u>g, p.Cys247Gly
Original code Family 1: II1
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change in the LDL-RA1 domain
Date 28-Apr-2008 (Rel. 1, Created)
Date 28-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18374984
RefAuthors Ponce-Castro, I. M., Gonzalez-Rubio, C., Delgado-Cervino,
RefAuthors E. M., Abarrategui-Garrido, C., Fontan, G., Sanchez-
RefAuthors Corral, P., Lopez-Trascasa, M.
RefTitle Molecular characterization of complement factor I
RefTitle deficiency in two spanish families.
RefLoc Mol Immunol:2764-2771 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0040: 42416
Feature /change: t -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0040; GI:182606; CFIC: 753
Feature /codon: tgt -> ggt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05156; CFAI_HUMAN: 247
Feature /change: C -> G
Feature /domain: LDL-RA1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0040: 42416
Feature /change: t -> g
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0040; GI:182606; CFIC: 753
Feature /codon: tgt -> ggt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05156; CFAI_HUMAN: 247
Feature /change: C -> G
Feature /domain: LDL-RA1
Symptoms Bacterial infections:
Symptoms Neisseria meningitidis;
Age 16
Sex XX
Ethnic origin Caucasoid; Spain
Relative CFIbase; I0008sister
//
ID C247G(1b),C247G(1b); standard; MUTATION; LDL-RA1,LDL-RA1
Accession I0008
Systematic name Allele 1 and 2: g.42416T>G, c.739T>G, r.739u>g, p.Cys247Gly
Original code Family 1: II4
Description Allele 1 and 2: A point mutation in the exon 5 leading to
Description an amino acid change in the LDL-RA1 domain
Date 28-Apr-2008 (Rel. 1, Created)
Date 28-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18374984
RefAuthors Ponce-Castro, I. M., Gonzalez-Rubio, C., Delgado-Cervino,
RefAuthors E. M., Abarrategui-Garrido, C., Fontan, G., Sanchez-
RefAuthors Corral, P., Lopez-Trascasa, M.
RefTitle Molecular characterization of complement factor I
RefTitle deficiency in two spanish families.
RefLoc Mol Immunol:2764-2771 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0040: 42416
Feature /change: t -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0040; GI:182606; CFIC: 753
Feature /codon: tgt -> ggt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05156; CFAI_HUMAN: 247
Feature /change: C -> G
Feature /domain: LDL-RA1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0040: 42416
Feature /change: t -> g
Feature /genomic_region: exon; 5
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0040; GI:182606; CFIC: 753
Feature /codon: tgt -> ggt; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05156; CFAI_HUMAN: 247
Feature /change: C -> G
Feature /domain: LDL-RA1
Age 18
Sex XX
Ethnic origin Caucasoid; Spain
Relative CFIbase; I0007sister
//
ID C247G(2),=; standard; MUTATION; LDL-RA1,
Accession I0019
Systematic name Allele 1: g.42416T>G, c.739T>G, r.739u>g, p.Cys247Gly
Description Allele 1: A point mutation in the exon 5 leading to
Description an amino acid change in the LDL-RA1 domain
Date 01-Jul-2010 (Rel. 1, Created)
Date 01-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 19459807
RefAuthors Cruzado, J. M., de Cordoba, S. R., Melilli, E., Bestard,
RefAuthors O., Rama, I., Sanchez-Corral, P., Lopez-Trascasa, M.,
RefAuthors Navarro, I., Torras, J., Goma, M., Grinyo, J. M.
RefTitle Successful renal transplantation in a patient with
RefTitle atypical hemolytic uremic syndrome carrying mutations in
RefTitle both factor I and MCP.
RefLoc Am J Transplant:1477-1483 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0040: 42416
Feature /change: t -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0040; GI:182606; CFIC: 753
Feature /codon: tgt -> ggt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05156; CFAI_HUMAN: 247
Feature /change: C -> G
Feature /domain: LDL-RA1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms anemia, thrombocytopenia, renal impairment
Age 22
Sex XY
Comment aHUS diagnosis
Comment Kidney transplanted
Comment The patient carried another heterozygote
Comment mutation in MCP gene.
//
ID A258T(1a),S268S(1a); standard; MUTATION; LDL-RA2,LDL-RA2
Accession I0009
Systematic name Allele 1: g.42449G>A, c.772G>A, r.772g>a, p.Ala258Thr
Systematic name Allele 2: g.42623G>A, c.804G>A, r.804g>a, p.Ser268Ser
Original code Family 2: II2
Description Allele 1: A point mutation in the exon 5 leading to an
Description amino acid change in the LDL-RA2 domain
Description Allele 2: A point mutation in the exon 6 leading to an
Description amino acid change in the LDL-RA2 domain
Date 28-Apr-2008 (Rel. 1, Created)
Date 28-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18374984
RefAuthors Ponce-Castro, I. M., Gonzalez-Rubio, C., Delgado-Cervino,
RefAuthors E. M., Abarrategui-Garrido, C., Fontan, G., Sanchez-
RefAuthors Corral, P., Lopez-Trascasa, M.
RefTitle Molecular characterization of complement factor I
RefTitle deficiency in two spanish families.
RefLoc Mol Immunol:2764-2771 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0040: 42449
Feature /change: g -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0040; GI:182606; CFIC: 786
Feature /codon: gca -> aca; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05156; CFAI_HUMAN: 258
Feature /change: A -> T
Feature /domain: LDL-RA2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0040: 42623
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0040; GI:182606; CFIC: 818
Feature /codon: tcg -> tca; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05156; CFAI_HUMAN: 268
Feature /change: S -> S
Feature /domain: LDL-RA2
Symptoms Bacterial infections:
Symptoms Other; Meningococcal meningitis
Age 2
Sex XX
Ethnic origin Caucasoid; Spain
Relative CFIbase; I0010brother
Relative CFIbase; I0011brother
//
ID A258T(1b),S268S(1b); standard; MUTATION; LDL-RA2,LDL-RA2
Accession I0010
Systematic name Allele 1: g.42449G>A, c.772G>A, r.772g>a, p.Ala258Thr
Systematic name Allele 2: g.42623G>A, c.804G>A, r.804g>a, p.Ser268Ser
Original code Family 2: II4
Description Allele 1: A point mutation in the exon 5 leading to an
Description amino acid change in the LDL-RA2 domain
Description Allele 2: A point mutation in the exon 6 leading to an
Description amino acid change in the LDL-RA2 domain
Date 28-Apr-2008 (Rel. 1, Created)
Date 28-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18374984
RefAuthors Ponce-Castro, I. M., Gonzalez-Rubio, C., Delgado-Cervino,
RefAuthors E. M., Abarrategui-Garrido, C., Fontan, G., Sanchez-
RefAuthors Corral, P., Lopez-Trascasa, M.
RefTitle Molecular characterization of complement factor I
RefTitle deficiency in two spanish families.
RefLoc Mol Immunol:2764-2771 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0040: 42449
Feature /change: g -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0040; GI:182606; CFIC: 786
Feature /codon: gca -> aca; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05156; CFAI_HUMAN: 258
Feature /change: A -> T
Feature /domain: LDL-RA2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0040: 42623
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0040; GI:182606; CFIC: 818
Feature /codon: tcg -> tca; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05156; CFAI_HUMAN: 268
Feature /change: S -> S
Feature /domain: LDL-RA2
Symptoms Bacterial infections:
Symptoms Other; Lymphoid meningitis
Age 31
Sex XY
Ethnic origin Caucasoid; Spain
Relative CFIbase; I0009sister
Relative CFIbase; I0011brother
//
ID A258T(1c),S268S(1c); standard; MUTATION; LDL-RA2,LDL-RA2
Accession I0011
Systematic name Allele 1: g.42449G>A, c.772G>A, r.772g>a, p.Ala258Thr
Systematic name Allele 2: g.42623G>A, c.804G>A, r.804g>a, p.Ser268Ser
Original code Family 2: II5
Description Allele 1: A point mutation in the exon 5 leading to an
Description amino acid change in the LDL-RA2 domain
Description Allele 2: A point mutation in the exon 6 leading to an
Description amino acid change in the LDL-RA2 domain
Date 28-Apr-2008 (Rel. 1, Created)
Date 28-Apr-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18374984
RefAuthors Ponce-Castro, I. M., Gonzalez-Rubio, C., Delgado-Cervino,
RefAuthors E. M., Abarrategui-Garrido, C., Fontan, G., Sanchez-
RefAuthors Corral, P., Lopez-Trascasa, M.
RefTitle Molecular characterization of complement factor I
RefTitle deficiency in two spanish families.
RefLoc Mol Immunol:2764-2771 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0040: 42449
Feature /change: g -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0040; GI:182606; CFIC: 786
Feature /codon: gca -> aca; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05156; CFAI_HUMAN: 258
Feature /change: A -> T
Feature /domain: LDL-RA2
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0040: 42623
Feature /change: g -> a
Feature /CpG; 2
Feature /genomic_region: exon; 6
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0040; GI:182606; CFIC: 818
Feature /codon: tcg -> tca; 3
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05156; CFAI_HUMAN: 268
Feature /change: S -> S
Feature /domain: LDL-RA2
Symptoms Bacterial infections:
Symptoms Other; Suppurative otitis, septic arthritis
Age 9
Sex XY
Ethnic origin Caucasoid; Spain
Relative CFIbase; I0009sister
Relative CFIbase; I0010brother
//
ID I306V(1),=; standard; MUTATION;
Accession I0016
Systematic name Allele 1: g.50480A>G, c.916A>G, r.916a>g, p.Ile306Val
Original code P.6
Description Allele 1: A point mutation in the exon 8 leading to
Description an amino acid change
Date 01-Jul-2010 (Rel. 1, Created)
Date 01-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18557729
RefAuthors Le Quintrec, M., Lionet, A., Kamar, N., Karras, A.,
RefAuthors Barbier, S., Buchler, M., Fakhouri, F., Provost, F.,
RefAuthors Fridman, W. H., Thervet, E., Legendre, C., Zuber, J.,
RefAuthors Fremeaux-Bacchi, V.
RefTitle Complement mutation-associated de novo thrombotic
RefTitle microangiopathy following kidney transplantation.
RefLoc Am J Transplant:1694-1701 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0040: 50480
Feature /change: a -> g
Feature /genomic_region: exon; 8
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0040; GI:182606; CFIC: 930
Feature /codon: att -> gtt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05156; CFAI_HUMAN: 306
Feature /change: I -> V
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Age 60
Sex XY
Ethnic origin France
Comment Kidney transplanted.
//
ID I340T(1),=; standard; MUTATION; S-PROT,
Accession I0014
Systematic name Allele 1: g.53448T>C, c.1019T>C, r.1019u>c,
Systematic name p.Ile340Thr
Original code P.3
Description Allele 1: A point mutation in the exon 9 leading to
Description an amino acid change in the S-PROT domain
Date 01-Jul-2010 (Rel. 1, Created)
Date 01-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18557729
RefAuthors Le Quintrec, M., Lionet, A., Kamar, N., Karras, A.,
RefAuthors Barbier, S., Buchler, M., Fakhouri, F., Provost, F.,
RefAuthors Fridman, W. H., Thervet, E., Legendre, C., Zuber, J.,
RefAuthors Fremeaux-Bacchi, V.
RefTitle Complement mutation-associated de novo thrombotic
RefTitle microangiopathy following kidney transplantation.
RefLoc Am J Transplant:1694-1701 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0040: 53448
Feature /change: t -> c
Feature /genomic_region: exon; 9
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0040; GI:182606; CFIC: 1033
Feature /codon: att -> act; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05156; CFAI_HUMAN: 340
Feature /change: I -> T
Feature /domain: S-PROT
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms crescent glomerulonephritis
Age 49
Sex XY
Ethnic origin France
Comment Kidney transplanted and plasma exchange was done.
Comment The patient carried mutation in CFH gene also.
Comment CFHbase; H0103
//
ID Y369S(1),=; standard; MUTATION; S-PROT,
Accession I0018
Systematic name Allele 1: g.53712A>C, c.1106A>C, r.1106a>c,
Systematic name p.Tyr369Ser
Description Allele 1: A point mutation in the exon 10 leading to
Description an amino acid change in the S-PROT domain
Date 01-Jul-2010 (Rel. 1, Created)
Date 01-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18805611
RefAuthors Chan, M. R., Thomas, C. P., Torrealba, J. R., Djamali, A.,
RefAuthors Fernandez, L. A., Nishimura, C. J., Smith, R. J.,
RefAuthors Samaniego, M. D.
RefTitle Recurrent atypical hemolytic uremic syndrome associated
RefTitle with factor I mutation in a living related renal
RefTitle transplant recipient.
RefLoc Am J Kidney Dis:321-326 (2009)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0040: 53712
Feature /change: a -> c
Feature /genomic_region: exon; 10
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0040; GI:182606; CFIC: 1120
Feature /codon: tat -> tct; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05156; CFAI_HUMAN: 369
Feature /change: Y -> S
Feature /domain: S-PROT
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms hemolysis, upper respiratory tract symptoms with
Symptoms sore throat and rhinorrhea, fever, vomiting,
Symptoms diarrhea
Age 26
Sex XX
//
ID @W393X397(1a),@W393X397(1a); standard; MUTATION; S-PROT,S-
ID PROT
Accession I0005
Systematic name Allele 1 and 2: g.56497_56498dup, c.1176_1177dup,
Systematic name r.1176_1177dup, p.Trp393fsX5
Original code C.A.S.
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 11 leading to a premature stop codon in the S-PROT
Description domain
Date 21-Nov-2003 (Rel. 1, Created)
Date 21-Nov-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12562389
RefAuthors Baracho, G. V., Nudelman, V., Isaac, L.
RefTitle Molecular characterization of homozygous hereditary factor
RefTitle I deficiency.
RefLoc Clin Exp Immunol 131:280-286 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0040: 56499
Feature /change: +at
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0040: 1192
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05156; CFAI_HUMAN: 393
Feature /change: W -> YGQQX
Feature /domain: S-PROT
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0040: 56499
Feature /change: +at
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0040: 1192
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05156; CFAI_HUMAN: 393
Feature /change: W -> YGQQX
Feature /domain: S-PROT
Symptoms Bacterial infections:
Symptoms Other; several infectious episodes during her childhood
Symptoms Other symptoms; systemic lupus erythematosus,
Symptoms glomerulonephritis
Sex XX
Parents Consanguineous
Relative CFIbase; I0006 sister
Comment Complete absence of fI
//
ID @W393X397(1b),@W393X397(1b); standard; MUTATION; S-PROT,S-
ID PROT
Accession I0006
Systematic name Allele 1 and 2: g.56497_56498dup, c.1176_1177dup,
Systematic name r.1176_1177dup, p.Trp393fsX5
Original code L.R.S.
Description Allele 1 and 2: a frame shift duplication mutation in the
Description exon 11 leading to a premature stop codon in the S-PROT
Description domain
Date 21-Nov-2003 (Rel. 1, Created)
Date 21-Nov-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12562389
RefAuthors Baracho, G. V., Nudelman, V., Isaac, L.
RefTitle Molecular characterization of homozygous hereditary factor
RefTitle I deficiency.
RefLoc Clin Exp Immunol 131:280-286 (2003)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: duplication
Feature /loc: IDRefSeq: D0040: 56499
Feature /change: +at
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: frameshift
Feature /loc: IDRefSeq: C0040: 1192
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05156; CFAI_HUMAN: 393
Feature /change: W -> YGQQX
Feature /domain: S-PROT
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: duplication
Feature /loc: IDRefSeq: D0040: 56499
Feature /change: +at
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: frameshift
Feature /loc: IDRefSeq: C0040: 1192
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05156; CFAI_HUMAN: 393
Feature /change: W -> YGQQX
Feature /domain: S-PROT
Symptoms Bacterial infections:
Symptoms Other; asymptomatic until 3 yr when she developed a
Symptoms severe intestinal infection that evolved to sepsis,
Symptoms which was fatal
Age 3
Sex XX
Parents Consanguineous
Relative CFIbase; I0005 sister
Comment Complete absence of fI
//
ID H418L(1a),H418L(1a); standard; MUTATION; S-PROT,S-PROT
Accession I0001
Systematic name Allele 1 and 2: g.56574A>T, c.1253A>T, r.1253a>u,
Systematic name p.His418Leu
Original code Family 1, propand
Description Allele 1 and 2: a point mutation in the exon 11 leading to
Description an amino acid change in the S-PROT domain
Date 14-Nov-2003 (Rel. 1, Created)
Date 14-Nov-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8613545
RefAuthors Vyse, T. J., Morley, B. J., Bartok, I., Theodoridis, E.
RefAuthors L., Davies, K. A., Webster, A. D., Walport, M. J.
RefTitle The molecular basis of hereditary complement factor I
RefTitle deficiency.
RefLoc J Clin Invest 97:925-933 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0040: 56574
Feature /change: a -> t
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0040: 1267
Feature /codon: cat -> ctt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05156; CFAI_HUMAN: 418
Feature /change: H -> L
Feature /domain: S-PROT
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0040: 56574
Feature /change: a -> t
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0040: 1267
Feature /codon: cat -> ctt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05156; CFAI_HUMAN: 418
Feature /change: H -> L
Feature /domain: S-PROT
Symptoms Bacterial infections:
Symptoms Staphylococcus epidermitidis; septic arthritis on the
Symptoms left shoulder
Symptoms Neisseria meningitidis; meningitis
Symptoms Other; recurrent sinusitis and otitis media
Sex XY
Ethnic origin Caucasoid; Scotland
Parents Non-consanguineous
Relative CFIbase; I0002 sister
//
ID H418L(1b),H418L(1b); standard; MUTATION; S-PROT,S-PROT
Accession I0002
Systematic name Allele 1 and 2: g.56574A>T, c.1253A>T, r.1253a>u,
Systematic name p.His418Leu
Original code Family 1
Description Allele 1 and 2: a point mutation in the exon 11 leading to
Description an amino acid change in the S-PROT domain
Date 14-Nov-2003 (Rel. 1, Created)
Date 14-Nov-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8613545
RefAuthors Vyse, T. J., Morley, B. J., Bartok, I., Theodoridis, E.
RefAuthors L., Davies, K. A., Webster, A. D., Walport, M. J.
RefTitle The molecular basis of hereditary complement factor I
RefTitle deficiency.
RefLoc J Clin Invest 97:925-933 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0040: 56574
Feature /change: a -> t
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0040: 1267
Feature /codon: cat -> ctt; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: P05156; CFAI_HUMAN: 418
Feature /change: H -> L
Feature /domain: S-PROT
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0040: 56574
Feature /change: a -> t
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0040: 1267
Feature /codon: cat -> ctt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05156; CFAI_HUMAN: 418
Feature /change: H -> L
Feature /domain: S-PROT
Sex XX
Ethnic origin Caucasoid; Scotland
Parents Non-consanguineous
Relative CFIbase; I0001 brother
Comment No history of increased susceptibility to pyogenic
Comment infections
//
ID Intron 7(1),R474X(1); standard; MUTATION; ,S-PROT
Accession I0004
Systematic name Allele 1: g.50471G>A;50477G>T, c.907G>A;913G>T,
Systematic name r.907g>a;913g>u, p.Glu303Lys;Glu305X
Systematic name Allele 2: g.56741C>T, c.1420C>T, r.1420c>u, p.Arg474X
Description Allele 1: point mutations in the exon 8 leading to
Description aberrant splicing
Description Allele 2: a point mutation in the exon 11 leading to a
Description premature stop codon in the S-PROT domain
Date 20-Nov-2003 (Rel. 1, Created)
Date 20-Nov-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefAuthors Morley, B. J., Bartok, I., Spath, P. J., Vyse, T. J.,
RefAuthors Schneider, P. M., Walport, M. J.
RefTitle The molecular basis of hereditary factor I
RefTitle deficiency.
RefLoc Mol Immunol 35:344 (1998)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 3
Feature /name: point
Feature /loc: IDRefSeq: D0040: 50471
Feature /change: g -> a
Feature /genomic_region: exon; 8
Feature dna; 2
Feature /rnalink: 4
Feature /name: point
Feature /loc: IDRefSeq: D0040: 50477
Feature /change: g -> t
Feature /genomic_region: exon; 8
Feature rna; 3
Feature /dnalink: 1
Feature /aalink: 5
Feature /name: unknown
Feature /note: exon 8 was spliced out of the message,
Feature /note: usually in conjunction with exon 7 (see Ref.[1])
Feature rna; 4
Feature /dnalink: 2
Feature /aalink: 6
Feature /name: unknown
Feature /note: exon 8 was spliced out of the message,
Feature /note: usually in conjunction with exon 7 (see Ref.[1])
Feature aa; 5
Feature /rnalink: 3
Feature /name: unknown
Feature aa; 6
Feature /rnalink: 4
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 7
Feature /rnalink: 8
Feature /name: point
Feature /loc: IDRefSeq: D0040: 56741
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 11
Feature rna; 8
Feature /dnalink: 7
Feature /aalink: 9
Feature /name: nonsense
Feature /loc: IDRefSeq: C0040: 1434
Feature /codon: cga -> tga; 1
Feature aa; 9
Feature /rnalink: 8
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: P05156; CFAI_HUMAN: 474
Feature /change: R -> X
Feature /domain: S-PROT
Ethnic origin Caucasoid; Swiss/German
Comment no detectable FI protein in the serum
//
ID Intron 5(1),H418L(2); standard; MUTATION; LDL-RA2,S-PROT
Accession I0003
Systematic name Allele 1: g.42449G>A, c.772G>A, r.772g>a, p.Ala258Thr
Systematic name Allele 2: g.56574A>T, c.1253A>T, r.1253a>u, p.His418Leu
Original code Family 2
Description Allele 1: a point mutation in exon 5 leading to
Description aberrant splicing
Description Allele 2: a point mutation in the exon 11 leading to an
Description amino acid change in the S-PROT domain
Date 20-Nov-2003 (Rel. 1, Created)
Date 20-Nov-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 8613545
RefAuthors Vyse, T. J., Morley, B. J., Bartok, I., Theodoridis, E.
RefAuthors L., Davies, K. A., Webster, A. D., Walport, M. J.
RefTitle The molecular basis of hereditary complement factor I
RefTitle deficiency.
RefLoc J Clin Invest 97:925-933 (1996)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0040: 42449
Feature /change: g -> a
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: inframe deletion
Feature /loc: IDRefSeq: C0040: 673..786
Feature /change: -attctccaat ggatgacttc tttcagtgtg tgaatgggaa
Feature /change: atacatttct cagatgaaag cctgtgatgg tatcaatgat
Feature /change: tgtggagacc aaagtgatga actgtgttgt aaag
Feature /note: skipping of exon 5
Feature aa; 3
Feature /rnalink: 2
Feature /name: deletion; inframe
Feature /loc: UniProt: P05156; CFAI_HUMAN: 220..258
Feature /change: DSPMDDFFQC VNGKYISQMK ACDGINDCGD QSDELCCKA -> A
Feature /domain: LDL-RA1
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0040: 56574
Feature /change: a -> t
Feature /genomic_region: exon; 11
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: missense
Feature /loc: IDRefSeq: C0040: 1267
Feature /codon: cat -> ctt; 2
Feature aa; 6
Feature /rnalink: 5
Feature /name: aa substitution
Feature /loc: UniProt: P05156; CFAI_HUMAN: 418
Feature /change: H -> L
Feature /domain: S-PROT
Symptoms Bacterial infections:
Symptoms Streptococcus pneumoniae; meningitis
Symptoms Neisseria meningitidis; meningitis
Symptoms Other; otitis media
Age 4/12
Sex XX
//
ID Intron 12(1),=; standard; MUTATION;
Accession I0017
Systematic name Allele 1: g.60486G>T, c.1534+5G>T, r.1534+5g>u
Original code P.7
Description Allele 1: A point mutation in the intron 12 leading
Description to aberrant splicing
Date 01-Jul-2010 (Rel. 1, Created)
Date 01-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18557729
RefAuthors Le Quintrec, M., Lionet, A., Kamar, N., Karras, A.,
RefAuthors Barbier, S., Buchler, M., Fakhouri, F., Provost, F.,
RefAuthors Fridman, W. H., Thervet, E., Legendre, C., Zuber, J.,
RefAuthors Fremeaux-Bacchi, V.
RefTitle Complement mutation-associated de novo thrombotic
RefTitle microangiopathy following kidney transplantation.
RefLoc Am J Transplant:1694-1701 (2008)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0040: 60486
Feature /change: g -> t
Feature /genomic_region: intron; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +5
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: no mutation
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: no mutation
Feature /inexloc: +5
Feature aa; 6
Feature /rnalink: 5
Feature /name: no mutation
Symptoms membranoproliferative glomerulonephritis
Age 50
Sex XY
Ethnic origin France
Comment Kidney transplanted and plasma exchange was done.
//
//
|
