PDB ID 2W80     CHAIN A
Protein name COMPLEMENT FACTOR H
Uniprot Accession P08603
The number of similar proteins 12
The number of binding states 5
The number of binding partners 5

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
2W80 (CHAIN: A)
1 Q9JXV4  
2 O50665  
3 Q93RI1  
4 P02977   P02977  
5 P08089   P08089  

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Only interaction residues
#binding
partners
  5
  4
  3
  2
  1
  0

Sequence information

1   TLKPCDYPDI   KHGGLYHENM   RRPYFPVAVG   KYYSYYCDEH   FETPSGSYWD   50
51   HIHCTQDGWS   PAVPCLRKCY   FPYLENGYNQ   NHGRKFVQGK   SIDVACHPGY   100
101   ALPKAQTTVT   CMENGWSPTP   RCI       150

Variants

Residue AA Source /
dbSNP		 Clinical
Significance
 Allele
Frequency
(> 0.0001)		 AlphaMissense
pathogenicity		 Disease name
325_CYS TYR VAR_063648
-
LP/P - 0.9748 Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400]
325_CYS TYR ClinVar
chr1:196658559
-
Likely pathogenic, low penetrance - 0.9748 Age related macular degeneration 4 [MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698]; Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
333_GLY GLU 8.3kJPN
chr1:196748325
-
- 0.0001 0.9494 -
334_GLY ARG 8.3kJPN
chr1:196748327
-
- 0.0001 0.1007 -
336_PHE CYS gnomAD
chr1:196748334
rs61737523
- 0.00219201 - -
337_HIS ASN gnomAD
chr1:196748336
rs142797725
- 0.000151167 0.0914 -
341_ARG CYS gnomAD
chr1:196748348
rs143890724
- 0.000146866 0.5246 -
341_ARG HIS gnomAD
chr1:196748349
rs377742193
- 0.00017622 0.1313 -
341_ARG HIS 8.3kJPN
chr1:196658607
rs371192606
- 0.0001 0.1313 -
341_ARG CYS 8.3kJPN
chr1:196748348
rs143890724
- 0.0008 0.5246 -
341_ARG HIS 8.3kJPN
chr1:196748349
rs377742193
- 0.0002 0.1313 -
344_TYR CYS gnomAD
chr1:196748358
rs541949808
- 0.000121631 0.5402 -
348_ALA PRO 8.3kJPN
chr1:196658627
-
- 0.0001 0.0754 -
352_TYR TER ClinVar
chr1:196658641
-
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]
359_GLU TER ClinVar
chr1:196658660
-
Pathogenic, low penetrance - - Age related macular degeneration 4 [MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698]
366_GLY GLU 8.3kJPN
chr1:196658682
rs767431440
- 0.0008 0.153 -
369_TRP TER ClinVar
chr1:196658691
-
Pathogenic, low penetrance - - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
369_TRP TER ClinVar
chr1:196658692
-
Pathogenic, low penetrance - - Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
373_HIS LEU 8.3kJPN
chr1:196748445
-
- 0.0001 0.1334 -
376_GLN TER ClinVar
chr1:196658711
rs1573026975
Pathogenic, low penetrance - - Hemolytic uremic syndrome, atypical, susceptibility to, 1|Age related macular degeneration 4 [MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698]
383_VAL ALA gnomAD
chr1:196658733
rs762389370
- 0.000103978 0.2045 -
385_CYS PHE ClinVar
chr1:196658739
rs2529386595
Likely pathogenic - - Hemolytic uremic syndrome, atypical, susceptibility to, 1 [MONDO:MONDO:0009335,MedGen:C2749604,OMIM:235400,Orphanet:2134,Orphanet:90038]
386_LEU HIS 8.3kJPN
chr1:196748484
-
- 0.0001 0.1982 -
400_GLN LYS VAR_031980
rs201671665
LP/P - 0.0703 Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400]
402_HIS TYR gnomAD
chr1:196659237
rs1061170
- 0.679745 0.0755 -
402_TYR CYS gnomAD
chr1:196748972
rs116375156
- 0.000739976 - -
402_HIS TYR 8.3kJPN
chr1:196659237
rs1061170
- 0.9332 0.0755 -
408_GLN TER ClinVar
chr1:196659255
rs121913061
Pathogenic - - Basal laminar drusen|Age related macular degeneration 4 [MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376|MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698]; Basal laminar drusen [MONDO:MONDO:0007472,MedGen:C0730295,OMIM:126700,Orphanet:75376]
409_GLY CYS 8.3kJPN
chr1:196748992
rs769199684
- 0.0004 0.7978 -
410_LYS ASN 8.3kJPN
chr1:196659263
-
- 0.0001 0.0829 -
412_THR ALA gnomAD
chr1:196749001
rs748702882
- 0.000134197 - -
421_ALA THR 8.3kJPN
chr1:196659294
rs374159003
- 0.0001 0.0764 -
424_LYS GLU 8.3kJPN
chr1:196659303
-
- 0.0001 0.0633 -
431_CYS SER VAR_031981
rs121913056
LP/P - 0.9833 Complement factor H deficiency (CFHD) [MIM:609814]
431_CYS SER ClinVar
chr1:196659324
rs121913056
Likely pathogenic, low penetrance - 0.9833 Factor H deficiency|Atypical hemolytic-uremic syndrome [MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814|MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]; Age related macular degeneration 4 [MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698]; Factor H deficiency [MONDO:MONDO:0012350,MedGen:C0398777,OMIM:609814]
431_CYS TYR ClinVar
chr1:196659325
-
Likely pathogenic, low penetrance - - Age related macular degeneration 4 [MONDO:MONDO:0012540,MedGen:C1853147,OMIM:610698]; Atypical hemolytic-uremic syndrome [MONDO:MONDO:0016244,MedGen:C2931788,Orphanet:2134]
436_TRP TER ClinVar
chr1:196659340
rs2149088788
Pathogenic - - not provided [MedGen:C3661900]
437_SER ALA gnomAD
chr1:196659342
rs560787602
- 0.000135667 0.1327 -
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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.