PDB ID 2F8X     CHAIN C
Protein name Recombining binding protein suppressor of hairless, isoform 4
Uniprot Accession Q06330
The number of similar proteins 14
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
2F8X (CHAIN: C)
1 Q92585   P46531  
2 Monomeric state
3 P46531   Q7Z6K4  
4 P0AEY0   P0AEY0  

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Molecule viewer


Only interaction residues
#binding
partners
  3
  2
  1
  0

Sequence information

1   MGERPPPKRL   TREAMRNYLK   ERGDQTVLIL   HAKVAQKSYG   NEKRFFCPPP   50
51   CVYLMGSGWK   KKKEQMERDG   CSEQESQPCA   FIGIGNSDQE   MQQLNLEGKN   100
101   YCTAKTLYIS   DSDKRKHFML   SVKMFYGNSD   DIGVFLSKRI   KVISKPSKKK   150
151   QSLKNADLCI   ASGTKVALFN   RLRSQTVSTR   YLHVEGGNFH   ASSQQWGAFF   200
201   IHLLDDDESE   GEEFTVRDGY   IHYGQTVKLV   CSVTGMALPR   LIIRKVDKQT   250
251   ALLDADDPVS   QLHKCAFYLK   DTERMYLCLS   QERIIQFQAT   PCPKEPNKEM   300
301   INDGASWTII   STDKAEYTFY   EGMGPVLAPV   TPVPVVESLQ   LNGGGDVAML   350
351   ELTGQNFTPN   LRVWFGDVEA   ETMYRCGESM   LCVVPDISAF   REGWRWVRQP   400
401   VQVPVTLVRN   DGIIYSTSLT   FTYTPEPGHH   HHHH     450

Variants

Residue AA Source /
dbSNP		 Clinical
Significance
 Allele
Frequency
(> 0.0001)		 AlphaMissense
pathogenicity		 Disease name
23_ARG GLN 8.3kJPN
chr4:26407808
rs141690523
- 0.0004 0.5573 -
24_ASN ASP gnomAD
chr4:26407810
rs556795121
- 0.000115616 0.2787 -
35_LEU PHE 8.3kJPN
chr4:26407843
-
- 0.0001 0.4629 -
43_GLN GLU ClinVar
chr4:26407867
rs1553878198
Likely pathogenic - 0.993 Inborn genetic diseases [MeSH:D030342,MedGen:C0950123]
49_GLU GLY VAR_068929
rs387907270
LP/P - 0.9998 Adams-Oliver syndrome 3 (AOS3) [MIM:614814]
49_GLU GLY ClinVar
chr4:26407886
rs387907270
Pathogenic - 0.9998 Adams-Oliver syndrome 3 [MONDO:MONDO:0013895,MedGen:C3553748,OMIM:614814,Orphanet:974]
51_ARG GLY ClinVar
chr4:26407891
rs1553878211
Likely pathogenic - 0.9996 Adams-Oliver syndrome 3|Type 2 diabetes mellitus [MONDO:MONDO:0013895,MedGen:C3553748,OMIM:614814,Orphanet:974|Human Phenotype Ontology:HP:0005965,Human Phenotype Ontology:HP:0005978,Human Phenotype Ontology:HP:0100652,MONDO:MONDO:0005148,MeSH:D003924,MedGen:C0011860,OMIM:125853]
51_ARG THR ClinVar
chr4:26407892
-
Likely pathogenic - 1.0 Adams-Oliver syndrome 3 [MONDO:MONDO:0013895,MedGen:C3553748,OMIM:614814,Orphanet:974]
52_PHE VAL ClinVar
chr4:26417098
rs1553880029
Likely pathogenic - 0.9998 Adams-Oliver syndrome 3 [MONDO:MONDO:0013895,MedGen:C3553748,OMIM:614814,Orphanet:974]
62_MET THR 8.3kJPN
chr4:26417129
rs771216421
- 0.0001 0.3303 -
72_GLN LYS 8.3kJPN
chr4:26417158
-
- 0.0001 0.1574 -
73_MET THR 8.3kJPN
chr4:26417162
-
- 0.0001 0.8988 -
155_LYS GLU VAR_068930
rs387907271
LP/P - 0.9998 Adams-Oliver syndrome 3 (AOS3) [MIM:614814]
155_LYS GLU ClinVar
chr4:26422317
rs387907271
Pathogenic - 0.9998 Adams-Oliver syndrome 3 [MONDO:MONDO:0013895,MedGen:C3553748,OMIM:614814,Orphanet:974]
273_ALA THR 8.3kJPN
chr4:26430414
-
- 0.0001 0.8994 -
277_LYS GLU VAR_028994
rs1064372
LB/B - 0.9789 -
318_SER ARG ClinVar
chr4:26431588
rs1553882550
Likely pathogenic - 0.9998 Adams-Oliver syndrome 3 [MONDO:MONDO:0013895,MedGen:C3553748,OMIM:614814,Orphanet:974]
320_ASP HIS VAR_028995
rs1064376
LB/B - 0.9857 -
335_ALA VAL gnomAD
chr4:26431638
rs201526714
- 0.000286439 0.1018 -
394_ILE VAL VAR_057244
rs1064381
LB/B - 0.7999 -
405_ARG GLN VAR_028996
rs1064384
LB/B - 0.8414 -
411_PRO SER VAR_028997
rs1064387
LB/B - 0.892 -
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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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