PDB ID 1FU1     CHAIN A
Protein name DNA REPAIR PROTEIN XRCC4
Uniprot Accession Q13426
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
1FU1 (CHAIN: A)
1 Q13426  
2 Q0D2I5  
3 Q13426   P49917  
4 Q13426   P49917  

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Molecule viewer


Only interaction residues
#binding
partners
  4
  3
  2
  1
  0

Sequence information

1   MERKISRIHL   VSEPSITHFL   QVSWEKTLES   GFVITLTDGH   SAWTGTVSES   50
51   EISQEADDMA   MEKGKYVGEL   RKALLSGAGP   ADVYTFNFSK   ESXYFFFEKN   100
101   LKDVSFRLGS   FNLEKVENPA   EVIRELIXYX   LDTTAENQAK   NEHLQKENER   150
151   LLRDWNDVQG   RFEKXVSAKE   ALETDLYKRF   ILVLNEKKTK   IRSLHNKLLN   200
201   AAQ           250

Variants

Residue AA Source dbSNP Clinical
Significance
 Allele
Frequency
(> 0.0001)		 Disease name
1_MET ILE 8.3kJPN
chr5:82400741 		-
- 0.0001 -
3_ARG SER 8.3kJPN
chr5:82400747 		rs772350571
- 0.0001 -
12_SER CYS VAR_022310 rs28383138
LB/B - -
12_SER CYS gnomAD
chr5:82400773 		rs28383138
- 0.00183176 -
43_TRP ARG VAR_075822 rs587779351
LP/P - Short stature, microcephaly, and endocrine dysfunction (SSMED) [MIM:616541]
43_TRP ARG ClinVar
chr5:82400865 		rs587779351
Pathogenic/Likely pathogenic - Ateleiotic dwarfism|Short stature, microcephaly, and endocrine dysfunction|not provided [MONDO:MONDO:0009876,MedGen:C0342573,OMIM:262400,Orphanet:231662,Orphanet:631|MONDO:MONDO:0014686,MedGen:C4225288,OMIM:616541,Orphanet:436182|MedGen:C3661900]
43_TRP ARG ClinVar
chr5:82400865 		rs587779351
Pathogenic - Short stature, microcephaly, and endocrine dysfunction [MONDO:MONDO:0014686,MedGen:C4225288,OMIM:616541,Orphanet:436182]
56_ALA THR VAR_022311 rs28383151
LB/B - -
56_ALA THR gnomAD
chr5:82406873 		rs28383151
- 0.000428771 -
70_LEU PRO 8.3kJPN
chr5:82406916 		rs759064378
- 0.0003 -
74_LEU PHE 8.3kJPN
chr5:82406929 		-
- 0.0001 -
75_LEU SER gnomAD
chr5:82406931 		rs61762970
- 0.00140904 -
82_ASP GLU VAR_084965 -
LP/P - Short stature, microcephaly, and endocrine dysfunction (SSMED) [MIM:616541]
82_ASP GLU ClinVar
chr5:82406953 		rs879255258
Pathogenic - Short stature, microcephaly, and endocrine dysfunction [MONDO:MONDO:0014686,MedGen:C4225288,OMIM:616541,Orphanet:436182]
103_ASP ASN gnomAD
chr5:82407014 		rs144653114
- 0.000773597 -
134_ILE THR gnomAD
chr5:82491674 		rs28360135
- 0.0255348 -
137_ASN LYS gnomAD
chr5:82491684 		rs56334522
- 0.00131651 -
142_GLU GLN VAR_022313 rs28360136
LB/B - -
142_GLU GLN gnomAD
chr5:82491697 		rs28360136
- 0.000438701 -
161_ARG GLN VAR_075823 rs797045017
LP/P - Short stature, microcephaly, and endocrine dysfunction (SSMED) [MIM:616541]
161_ARG TER ClinVar
chr5:82491754 		rs779773463
Pathogenic/Likely pathogenic - Short stature, microcephaly, and endocrine dysfunction|XRCC4-related condition|not provided [MONDO:MONDO:0014686,MedGen:C4225288,OMIM:616541,Orphanet:436182||MedGen:C3661900]
161_ARG GLN ClinVar
chr5:82491755 		rs797045017
Pathogenic - Short stature, microcephaly, and endocrine dysfunction [MONDO:MONDO:0014686,MedGen:C4225288,OMIM:616541,Orphanet:436182]
177_TYR CYS 8.3kJPN
chr5:82499418 		rs777300742
- 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.