PDB ID | 2B5L
|
CHAIN | A |
---|---|---|---|
Protein name | damage-specific DNA binding protein 1 | ||
GenBank ID | 13435359 | ||
The number of similar proteins | 42 | ||
The number of binding states | 9 | ||
The number of binding partners | 9 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
2B5L (CHAIN: A) | |
1 |
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2 | Monomeric state |
3 |
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4 |
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5 |
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6 |
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7 |
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8 |
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9 |
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Only interaction residues |
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|
Residue | AA | Source / dbSNP |
Clinical Significance |
Allele Frequency (> 0.0001) |
AlphaMissense pathogenicity |
Disease name | |
---|---|---|---|---|---|---|---|
18_CYS | GLY |
8.3kJPN chr11:61100389 - |
- | 0.0001 | - | - | |
25_SER | LEU |
gnomAD chr11:61099151 rs35597036 |
- | 0.000743592 | - | - | |
25_SER | ALA |
8.3kJPN chr11:61099152 - |
- | 0.0001 | - | - | |
40_GLU | ASP |
8.3kJPN chr11:61099105 - |
- | 0.0001 | - | - | |
68_ARG | TRP |
8.3kJPN chr11:61099023 - |
- | 0.0001 | - | - | |
102_THR | MET |
8.3kJPN chr11:61097452 rs754320597 |
- | 0.0001 | - | - | |
114_ARG | HIS |
ClinVar chr11:61097043 rs1231861984 |
Likely pathogenic | - | - | Neurodevelopmental delay [Human Phenotype Ontology:HP:0012758,MedGen:C4022738] | |
157_ILE | ASN |
8.3kJPN chr11:61096914 - |
- | 0.0001 | - | - | |
188_ARG | GLN |
ClinVar chr11:61094352 rs2134935097 |
Pathogenic | - | - | White-Kernohan syndrome [MONDO:MONDO:0859169,MedGen:C5543635,OMIM:619426] | |
213_GLU | LYS |
ClinVar chr11:61094278 rs2134934938 |
Likely pathogenic | - | - | White-Kernohan syndrome [MONDO:MONDO:0859169,MedGen:C5543635,OMIM:619426] | |
241_ASN | SER |
8.3kJPN chr11:61093123 rs1169556093 |
- | 0.0001 | - | - | |
252_ILE | VAL |
8.3kJPN chr11:61093091 rs1200909412 |
- | 0.0002 | - | - | |
295_VAL | ILE |
8.3kJPN chr11:61091489 rs756108667 |
- | 0.0001 | - | - | |
314_LEU | PHE |
8.3kJPN chr11:61090546 - |
- | 0.0001 | - | - | |
340_SER | ILE |
8.3kJPN chr11:61089871 - |
- | 0.0001 | - | - | |
414_ARG | TRP |
8.3kJPN chr11:61084025 rs769032698 |
- | 0.0001 | - | - | |
419_ARG | LEU |
8.3kJPN chr11:61084009 rs553181699 |
- | 0.0016 | - | - | |
422_ASP | ASN |
8.3kJPN chr11:61084001 - |
- | 0.0001 | - | - | |
429_PHE | VAL |
ClinVar chr11:61083980 rs2134916397 |
Pathogenic | - | - | White-Kernohan syndrome [MONDO:MONDO:0859169,MedGen:C5543635,OMIM:619426] | |
462_ASN | SER |
gnomAD chr11:61083782 rs756660357 |
- | 0.000512984 | - | - | |
475_SER | LEU |
gnomAD chr11:61081945 rs769682007 |
- | 0.000100784 | - | - | |
475_SER | LEU |
8.3kJPN chr11:61081945 rs778820024 |
- | 0.0001 | - | - | |
507_GLN | LYS |
8.3kJPN chr11:61081850 - |
- | 0.0001 | - | - | |
517_TYR | CYS |
gnomAD chr11:61081819 rs56006697 |
- | 0.000211093 | - | - | |
517_TYR | CYS |
8.3kJPN chr11:61081819 rs56006697 |
- | 0.0011 | - | - | |
527_ARG | TRP |
8.3kJPN chr11:61081790 - |
- | 0.0001 | - | - | |
548_ASP | GLY |
8.3kJPN chr11:61081629 rs757720014 |
- | 0.0003 | - | - | |
626_ARG | HIS |
8.3kJPN chr11:61081163 rs767530118 |
- | 0.0001 | - | - | |
626_ARG | CYS |
8.3kJPN chr11:61081164 rs1302192657 |
- | 0.0001 | - | - | |
642_ARG | HIS |
8.3kJPN chr11:61081115 rs376616995 |
- | 0.0002 | - | - | |
649_VAL | ILE |
8.3kJPN chr11:61081095 rs1194687578 |
- | 0.0001 | - | - | |
739_ARG | HIS |
8.3kJPN chr11:61079317 rs190054116 |
- | 0.0001 | - | - | |
781_SER | ALA |
8.3kJPN chr11:61077827 - |
- | 0.0001 | - | - | |
790_ASN | HIS |
8.3kJPN chr11:61077800 rs759310673 |
- | 0.0001 | - | - | |
805_HIS | TYR |
8.3kJPN chr11:61077421 - |
- | 0.0001 | - | - | |
859_GLN | ARG |
8.3kJPN chr11:61076540 - |
- | 0.0001 | - | - | |
971_ALA | GLY |
8.3kJPN chr11:61070548 - |
- | 0.0001 | - | - | |
978_GLN | ARG |
8.3kJPN chr11:61070527 - |
- | 0.0001 | - | - | |
1022_THR | SER |
8.3kJPN chr11:61070101 - |
- | 0.0001 | - | - | |
1059_ASN | SER |
8.3kJPN chr11:61069768 rs1197372725 |
- | 0.0001 | - | - | |
1069_GLU | LYS |
8.3kJPN chr11:61069739 - |
- | 0.0001 | - | - | |
1071_SER | CYS |
8.3kJPN chr11:61069732 - |
- | 0.0001 | - | - |