PDB ID 2BZM     CHAIN A
Protein name COMPLEMENT FACTOR H
PDB 2BZM
The number of similar proteins 15
The number of binding states 7
The number of binding partners 4

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
2BZM (CHAIN: A)
1 Monomeric state
2 P01024  
3 W5SB08  
4 E4QGX1  
5 Q03591  
6 Q45001   P01024  
7 P01024   P01024  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  4
  3
  2
  1
  0

Sequence information

1   EAEFGKCGPP   PPIDNGDITS   FPLSVYAPAS   SVEYQCQNLY   QLEGNKRITC   50
51   RNGQWSEPPK   CLHPCVISRE   IMENYNIALR   WTAKQKLYSR   TGESVEFVCK   100
101   RGYRLSSRSH   TLRTTCWDGK   LEYPTCAKR       150

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
1107_GLY ARG 8.3kJPN
chr1:196799638 		-
- 0.0001 -
1108_LYS TER ClinVar
chr1:196714958 		rs2149117986
Likely pathogenic - not provided [MedGen:C3661900]
1109_CYS TYR gnomAD
chr1:196799645 		rs531445579
- 0.000273786 -
1110_GLY ALA 8.3kJPN
chr1:196714965 		rs201538141
- 0.001 -
1115_ILE ASN 8.3kJPN
chr1:196799663 		rs771091660
- 0.0004 -
1117_ASN HIS 8.3kJPN
chr1:196714985 		-
- 0.0001 -
1119_ASP GLY ClinVar
chr1:196714992 		rs575109631
Likely pathogenic - not provided [MedGen:C3661900]
1133_SER TER ClinVar
chr1:196715034 		rs1652987369
Pathogenic - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1143_GLN GLU gnomAD
chr1:196715063 		rs15809
- 0.00765369 -
1143_GLN GLU gnomAD
chr1:196799746 		rs147253539
- 0.00729884 -
1143_GLN GLU 8.3kJPN
chr1:196799746 		rs147253539
- 0.0136 -
1159_GLU ASP gnomAD
chr1:196799796 		rs566133245
- 0.00117598 -
1177_TYR TER ClinVar
chr1:196716278 		-
Likely pathogenic - not provided [MedGen:C3661900]
1181_LEU SER ClinVar
chr1:196716289 		rs1573087200
Likely pathogenic - Hemolytic uremic syndrome, atypical, susceptibility to, 1 [MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038]
1182_ARG SER ClinVar
chr1:196716293 		rs1653042358
Likely pathogenic - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1183_TRP LEU ClinVar
chr1:196716295 		rs2149118700
Likely pathogenic - Factor H deficiency [MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814]
1184_THR ILE 8.3kJPN
chr1:196716298 		-
- 0.0001 -
1191_SER LEU ClinVar
chr1:196716319 		rs460897
Pathogenic - Hemolytic uremic syndrome, atypical, susceptibility to, 1|CFH-Related Disorders|not provided|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:CN239324|MedGen:C3661900|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038]; Factor H deficiency [MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814]; Age related macular degeneration 4 [MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698]; Basal laminar drusen|Factor H deficiency [MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814]
1191_LEU SER ClinVar
chr1:196801005 		rs200832275
Likely pathogenic - not provided [MedGen:C3661900]
1191_LEU SER 8.3kJPN
chr1:196801005 		rs200832275
- 0.0001 -
1194_GLY SER 8.3kJPN
chr1:196716327 		rs267598268
- 0.0001 -
1197_VAL ALA ClinVar
chr1:196716337 		rs460184
Pathogenic/Likely pathogenic - Hemolytic uremic syndrome, atypical, susceptibility to, 1|not provided|Hemolytic uremic syndrome, atypical, susceptibility to, 1 [MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:C3661900|MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038]; Factor H deficiency [MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814]; Age related macular degeneration 4 [MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698]; Basal laminar drusen|Factor H deficiency [MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814]
1197_ALA VAL ClinVar
chr1:196801023 		rs16840561
Likely pathogenic - not provided [MedGen:C3661900]
1197_ALA VAL 8.3kJPN
chr1:196801023 		rs16840561
- 0.0001 -
1198_GLU GLY ClinVar
chr1:196716340 		rs2149118730
Likely pathogenic - not provided [MedGen:C3661900]
1198_GLU LYS gnomAD
chr1:196801025 		rs201995028
- 0.000362536 -
1200_VAL MET 8.3kJPN
chr1:196716345 		-
- 0.0001 -
1204_GLY TER ClinVar
chr1:196716357 		rs1653045638
Pathogenic - not provided [MedGen:C3661900]
1205_TYR HIS gnomAD
chr1:196801046 		rs139136156
- 0.000240291 -
1206_ARG CYS ClinVar
chr1:196716363 		rs1573087364
Likely pathogenic - Hemolytic uremic syndrome, atypical, susceptibility to, 1 [MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038]
1210_ARG CYS gnomAD
chr1:196716375 		rs121913059
- 0.000143287 -
1210_ARG CYS 8.3kJPN
chr1:196716375 		rs121913059
- 0.0001 -
1210_ARG PRO 8.3kJPN
chr1:196801062 		-
- 0.0001 -
1214_LEU MET 8.3kJPN
chr1:196716387 		rs750755559
- 0.0001 -
1215_ARG GLY ClinVar
chr1:196716390 		rs121913051
Pathogenic; risk factor - Hemolytic uremic syndrome, atypical, susceptibility to, 1|Atypical hemolytic-uremic syndrome [MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1215_ARG LEU ClinVar
chr1:196716391 		-
Likely pathogenic - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1226_PRO SER ClinVar
chr1:196716423 		-
Pathogenic - not provided [MedGen:C3661900]
1228_CYS SER 8.3kJPN
chr1:196801116 		rs1430639207
- 0.0032 -
1229_ALA VAL 8.3kJPN
chr1:196801119 		-
- 0.0001 -
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Reference

PiSite: a database of protein interaction sites using multiple binding states in the PDB, Miho Higurashi, Takashi Ishida and Kengo Kinoshita, Nucleic Acids Research 2009 37(Database issue):D360-D364

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