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  

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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)		 AlphaMissense
pathogenicity		 Disease name
1107_GLY ARG 8.3kJPN
chr1:196799638
-
- 0.0001 - -
1108_LYS TER ClinVar
chr1:196714958
rs2149117986
Likely pathogenic - - Factor H deficiency|not provided [MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|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/Likely pathogenic, low penetrance - - not provided|Atypical hemolytic-uremic syndrome [MedGen:C3661900|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1133_SER TER ClinVar
chr1:196715034
rs1652987369
Pathogenic, low penetrance - - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1136_TYR TER ClinVar
chr1:196715044
-
Pathogenic, low penetrance - - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1137_GLN TER ClinVar
chr1:196715045
-
Pathogenic, low penetrance - - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1139_GLN TER ClinVar
chr1:196715051
-
Pathogenic, low penetrance - - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1141_LEU TER ClinVar
chr1:196715058
-
Pathogenic, low penetrance - - 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 - -
1149_ARG TER ClinVar
chr1:196715081
-
Pathogenic, low penetrance - - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1155_GLY TER ClinVar
chr1:196715099
-
Pathogenic, low penetrance - - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1157_TRP ARG ClinVar
chr1:196715105
-
Likely pathogenic, low penetrance - - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1158_SER TER ClinVar
chr1:196715109
-
Pathogenic, low penetrance - - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1159_GLU ASP gnomAD
chr1:196799796
rs566133245
- 0.00117598 - -
1163_CYS TRP ClinVar
chr1:196715125
-
Likely pathogenic - - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1172_GLU TER ClinVar
chr1:196716261
rs121913060
Pathogenic - - 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]
1177_TYR TER ClinVar
chr1:196716278
rs1438529897
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
Pathogenic, low penetrance - - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1182_ARG SER ClinVar
chr1:196716293
-
Pathogenic - - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1183_TRP LEU ClinVar
chr1:196716295
rs2149118700
Pathogenic/Likely pathogenic - - Factor H deficiency|Atypical hemolytic-uremic syndrome [MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]; Factor H deficiency [MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814]
1183_TRP TER ClinVar
chr1:196716296
-
Pathogenic, low penetrance - - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1183_TRP ARG ClinVar
chr1:196716294
-
Likely pathogenic, low penetrance - - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1183_TRP ARG ClinVar
chr1:196716294
-
Likely pathogenic - - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1184_THR ILE 8.3kJPN
chr1:196716298
-
- 0.0001 - -
1188_LYS GLN ClinVar
chr1:196716309
-
Likely pathogenic, low penetrance - - Basal laminar drusen [MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376]; Factor H deficiency [MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814]; Age related macular degeneration 4 [MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698]; Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1191_SER LEU ClinVar
chr1:196716319
rs460897
Pathogenic/Likely pathogenic - - Hemolytic uremic syndrome, atypical, susceptibility to, 1|not provided|Basal laminar drusen [MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MedGen:C3661900|MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376]; Hemolytic uremic syndrome, atypical, susceptibility to, 1 [MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038]; Age related macular degeneration 4 [MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698]; Factor H deficiency|Factor H deficiency|CFH-related disorder|Atypical hemolytic-uremic syndrome [MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814||MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1191_LEU SER 8.3kJPN
chr1:196801005
rs200832275
- 0.0001 - -
1194_GLY SER 8.3kJPN
chr1:196716327
rs267598268
- 0.0001 - -
1195_GLU TER ClinVar
chr1:196716330
-
Pathogenic - - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
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 TER ClinVar
chr1:196716339
rs121913063
Pathogenic, low penetrance - - 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]
1198_GLU GLY ClinVar
chr1:196716340
rs2149118730
Likely pathogenic - - not provided [MedGen:C3661900]
1198_GLU LYS ClinVar
chr1:196716339
-
Likely pathogenic - - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1198_GLU VAL ClinVar
chr1:196716340
-
Likely pathogenic - - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1198_GLU LYS gnomAD
chr1:196801025
rs201995028
- 0.000362536 - -
1199_PHE LEU ClinVar
chr1:196716342
-
Likely pathogenic - - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
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 - -
1210_ARG SER ClinVar
chr1:196716375
-
Likely pathogenic, low penetrance - - Basal laminar drusen [MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376]; Factor H deficiency [MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814]; Age related macular degeneration 4 [MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698]; Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
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 - - 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 TER ClinVar
chr1:196716390
rs121913051
Pathogenic/Likely pathogenic - - Basal laminar drusen [MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376]; Age related macular degeneration 4 [MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698]; Factor H deficiency [MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814]; 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
rs2529561797
Likely pathogenic - - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
1226_PRO SER ClinVar
chr1:196716423
rs2529561891
Pathogenic/Likely pathogenic, low penetrance - - not provided|Atypical hemolytic-uremic syndrome [MedGen:C3661900|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
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

COPYRIGHTc2008-2019 Miho Higurashi, Takashi Ishida and Kengo Kinoshita. All rights reserved.