PDB ID 4AP2     CHAIN B
Protein name CULLIN-3
Uniprot Accession Q13618
The number of similar proteins 7
The number of binding states 4
The number of binding partners 4

Coloring

Unicolor (beige)

The number of binding partners

Group

Binding
state		 Binding partners
4AP2 (CHAIN: B)
1 Q9NVR0  
2 P24768  
3 Q9UH77  
4 O43791  

Downdload

Format:

Molecule viewer


Only interaction residues
#binding
partners
  4
  3
  2
  1
  0

Sequence information

1   MSNLSKGTGS   RKDTKMRIRA   FPMTMDEKYV   NSIWDLLKNA   IQEIQRKNNS   50
51   GLSFEELYRN   AYTMVLHKHG   EKLYTGLREV   VTEHLINKVR   EDVLNSLNNN   100
101   FLQTLNQAWN   DHQTAMVMIR   DILMYMDRVY   VQQNNVENVY   NLGLIIFRDQ   150
151   VVRYGCIRDH   LRQTLLDMIA   RERKGEVVDR   GAIRNACQML   MILGLEGRSV   200
201   YEEDFEAPFL   EMSAEFFQME   SQKFLAENSA   SVYIKKVEAR   INEEIERVMH   250
251   CLDKSTEEPI   VKVVERELIS   KHMKTIVEME   NSGLVHMLKN   GKTEDLGCMY   300
301   KLFSRVPNGL   KTMCECMSSY   LREQGKALVS   EEGEGKNPVD   YRQGLDDLKS   350
351   RFDRFLLESF   NNDRLFKQTI   AGDFEYFLNL   NSRSPEYLAE   NLYFQSHHHH   400
401   HHDYKDDDDK           450

Variants

Residue AA Source /
dbSNP		 Clinical
Significance
 Allele
Frequency
(> 0.0001)		 AlphaMissense
pathogenicity		 Disease name
32_SER ASN 8.3kJPN
chr2:225422545
-
- 0.0001 0.0942 -
58_TYR CYS ClinVar
chr2:225422467
rs1553535841
Pathogenic/Likely pathogenic - 0.9996 not provided|Autosomal dominant pseudohypoaldosteronism type 1|NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES [MedGen:C3661900|MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756|]
62_TYR CYS ClinVar
chr2:225422455
rs2106304517
Likely pathogenic - 0.9998 not provided [MedGen:C3661900]
83_GLU TER ClinVar
chr2:225422393
rs1417750087
Pathogenic - - Neurodevelopmental disorder with or without autism or seizures [MONDO:MONDO:0030994,MedGen:C5543225,OMIM:619239]
85_LEU PRO ClinVar
chr2:225422386
rs2106304068
Pathogenic - 0.9999 not provided [MedGen:C3661900]
90_ARG TER ClinVar
chr2:225400355
rs2106264622
Pathogenic - - not provided [MedGen:C3661900]
96_SER TER ClinVar
chr2:225400336
rs2106264503
Likely pathogenic - - Neurodevelopmental disorder with or without autism or seizures [MONDO:MONDO:0030994,MedGen:C5543225,OMIM:619239]
128_ARG CYS ClinVar
chr2:225379486
rs2106223782
Likely pathogenic - 0.9999 not provided|Neurodevelopmental disorder with or without autism or seizures [MedGen:C3661900|MONDO:MONDO:0030994,MedGen:C5543225,OMIM:619239]
128_ARG LEU ClinVar
chr2:225379485
-
Likely pathogenic - - not provided [MedGen:C3661900]
137_GLU TER ClinVar
chr2:225379459
-
Pathogenic - - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
143_GLY TER ClinVar
chr2:225379441
-
Likely pathogenic - - Pseudohypoaldosteronism type 2E [MONDO:MONDO:0013782,MedGen:C3469606,OMIM:614496,Orphanet:300530,Orphanet:757]; Neurodevelopmental disorder with or without autism or seizures [MONDO:MONDO:0030994,MedGen:C5543225,OMIM:619239]
148_ARG TER ClinVar
chr2:225379426
rs2106223664
Pathogenic - - not provided|Neurodevelopmental disorder with or without autism or seizures [MedGen:C3661900|MONDO:MONDO:0030994,MedGen:C5543225,OMIM:619239]
148_ARG PRO ClinVar
chr2:225379425
-
Likely pathogenic - - Neurodevelopmental disorder with or without autism or seizures [MONDO:MONDO:0030994,MedGen:C5543225,OMIM:619239]
150_GLN ARG 8.3kJPN
chr2:225379419
-
- 0.0001 0.3288 -
153_ARG HIS 8.3kJPN
chr2:225379410
rs972626651
- 0.0001 0.7582 -
178_VAL ILE 8.3kJPN
chr2:225379336
rs1200173088
- 0.0001 0.1563 -
184_ARG SER VAR_048839
rs17480168
LB/B - 0.9922 -
188_GLN TER ClinVar
chr2:225378333
rs2106221030
Likely pathogenic - - Neurodevelopmental disorder [MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926]
193_LEU TER ClinVar
chr2:225378317
rs2106220962
Pathogenic - - Complex neurodevelopmental disorder [MONDO:MONDO:0100038,MedGen:C5568766,Orphanet:528084]
199_SER TER ClinVar
chr2:225378299
rs981700726
Pathogenic - - NEURODEVELOPMENTAL DISORDER WITH AUTISM WITHOUT SEIZURES [-]
203_GLU TER ClinVar
chr2:225378288
rs2106220741
Pathogenic - - not provided [MedGen:C3661900]
214_ALA GLY ClinVar
chr2:225378254
rs1692920727
Pathogenic - 0.2085 Pseudohypoaldosteronism type 2E [MONDO:MONDO:0013782,MedGen:C3469606,OMIM:614496,Orphanet:300530,Orphanet:757]
218_GLN TER ClinVar
chr2:225378243
rs2106220457
Pathogenic - - Neurodevelopmental disorder with or without autism or seizures [MONDO:MONDO:0030994,MedGen:C5543225,OMIM:619239]
244_GLU TER ClinVar
chr2:225376224
-
Pathogenic - - Neurodevelopmental disorder with or without autism or seizures [MONDO:MONDO:0030994,MedGen:C5543225,OMIM:619239]
247_ARG TER ClinVar
chr2:225376215
rs201496024
Pathogenic - - Pseudohypoaldosteronism type 2E [MONDO:MONDO:0013782,MedGen:C3469606,OMIM:614496,Orphanet:300530,Orphanet:757]; Neurodevelopmental disorder with or without autism or seizures|not provided [MONDO:MONDO:0030994,MedGen:C5543225,OMIM:619239|MedGen:C3661900]
265_GLU TER ClinVar
chr2:225376161
-
Pathogenic - - Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
271_LYS ARG gnomAD
chr2:225376142
rs747230483
- 0.000194967 0.0771 -
285_VAL ALA VAR_085407
rs1343840421
LP/P - 0.7456 Neurodevelopmental disorder with or without autism or seizures (NEDAUS) [MIM:619239]
285_VAL ALA ClinVar
chr2:225376100
rs1343840421
Pathogenic - 0.7456 Neurodevelopmental disorder without autism with seizures [-]
286_HIS ARG 8.3kJPN
chr2:225376097
rs530205226
- 0.0001 0.8596 -
291_GLY GLU 8.3kJPN
chr2:225376082
-
- 0.0001 0.2529 -
321_LEU PHE ClinVar
chr2:225371641
-
Likely pathogenic - - Neurodevelopmental disorder with or without autism or seizures [MONDO:MONDO:0030994,MedGen:C5543225,OMIM:619239]
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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.