PDB ID | 3BCA | CHAIN | A |
---|---|---|---|
Protein name | O-phosphoseryl-tRNA(Sec) selenium transferase | ||
Uniprot Accession | Q6P6M7 | ||
The number of similar proteins | 3 | ||
The number of binding states | 1 | ||
The number of binding partners | 0 |
Unicolor (beige)
The number of binding partners
Group
Binding state |
Binding partners |
---|---|
3BCA (CHAIN: A) | |
1 | Monomeric state |
Only interaction residues |
|
||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
29_GLU | LYS |
8.3kJPN chr4:25161907 |
-
|
- | 0.0001 | - | |
32_ILE | VAL |
gnomAD chr4:25161898 |
rs369863497
|
- | 0.000102547 | - | |
35_LEU | PHE |
8.3kJPN chr4:25161889 |
rs1245194210
|
- | 0.0001 | - | |
46_TRP | TER |
ClinVar chr4:25160707 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
89_TYR | TER |
ClinVar chr4:25160577 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
95_ILE | VAL |
8.3kJPN chr4:25158583 |
rs1205037339
|
- | 0.0001 | - | |
105_GLN | TER |
ClinVar chr4:25158553 |
rs753121056
|
Pathogenic | - | not provided [MedGen:C3661900] | |
119_ASN | ASP |
ClinVar chr4:25158511 |
rs1553881788
|
Likely pathogenic | - | Inborn genetic diseases [MeSH:D030342,MedGen:C0950123] | |
137_CYS | ARG |
8.3kJPN chr4:25157797 |
-
|
- | 0.0001 | - | |
142_MET | VAL |
gnomAD chr4:25157782 |
rs79599769
|
- | 0.000111348 | - | |
156_ARG | TER |
ClinVar chr4:25157740 |
rs1712612053
|
Pathogenic/Likely pathogenic | - | not provided|Pontocerebellar hypoplasia type 2D [MedGen:C3661900|MONDO:MONDO:0013438,MedGen:C3151140,OMIM:613811,Orphanet:2524] | |
156_ARG | GLN |
8.3kJPN chr4:25157739 |
rs776438003
|
- | 0.0001 | - | |
158_LYS | GLU |
8.3kJPN chr4:25157734 |
-
|
- | 0.0001 | - | |
167_TRP | TER |
ClinVar chr4:25157705 |
rs1712607979
|
Pathogenic | - | not provided [MedGen:C3661900] | |
169_ARG | TER |
ClinVar chr4:25157701 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
212_LEU | VAL |
gnomAD chr4:25156687 |
rs202043298
|
- | 0.000198832 | - | |
216_CYS | TER |
ClinVar chr4:25156673 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
239_ALA | THR |
ClinVar chr4:25153671 |
rs267607035
|
Pathogenic/Likely pathogenic | - | Pontocerebellar hypoplasia type 2D|not provided|Pontoneocerebellar hypoplasia [MONDO:MONDO:0013438,MedGen:C3151140,OMIM:613811,Orphanet:2524|MedGen:C3661900|MONDO:MONDO:0020135,MedGen:C1261175,OMIM:PS607596,Orphanet:98523] | |
256_GLY | TER |
ClinVar chr4:25153620 |
rs779387647
|
Pathogenic/Likely pathogenic | - | not provided|Pontocerebellar hypoplasia type 2D [MedGen:C3661900|MONDO:MONDO:0013438,MedGen:C3151140,OMIM:613811,Orphanet:2524] | |
258_GLN | TER |
ClinVar chr4:25153614 |
rs1712331034
|
Pathogenic | - | not provided [MedGen:C3661900] | |
271_ARG | TER |
ClinVar chr4:25146749 |
rs745870736
|
Pathogenic/Likely pathogenic | - | not provided|Inborn genetic diseases|Pontocerebellar hypoplasia type 2D [MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013438,MedGen:C3151140,OMIM:613811,Orphanet:2524] | |
301_SER | TER |
ClinVar chr4:25146658 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
307_SER | GLY |
gnomAD chr4:25146641 |
rs150309842
|
- | 0.000226989 | - | |
331_SER | TER |
ClinVar chr4:25146430 |
-
|
Pathogenic | - | not provided [MedGen:C3661900] | |
333_GLY | VAL |
8.3kJPN chr4:25146424 |
-
|
- | 0.0001 | - | |
334_TYR | CYS |
ClinVar chr4:25146421 |
rs267607036
|
Pathogenic/Likely pathogenic | - | Pontocerebellar hypoplasia type 2D|not provided [MONDO:MONDO:0013438,MedGen:C3151140,OMIM:613811,Orphanet:2524|MedGen:C3661900] | |
369_ASN | SER |
8.3kJPN chr4:25128900 |
-
|
- | 0.0001 | - | |
375_MET | VAL |
8.3kJPN chr4:25127404 |
rs760866613
|
- | 0.0002 | - | |
382_GLU | LYS |
8.3kJPN chr4:25127383 |
rs190476418
|
- | 0.0004 | - | |
393_SER | TER |
ClinVar chr4:25127349 |
rs991789621
|
Pathogenic | - | not provided [MedGen:C3661900] | |
414_VAL | ALA |
8.3kJPN chr4:25125818 |
-
|
- | 0.0001 | - | |
426_THR | ALA |
gnomAD chr4:25125783 |
rs142133435
|
- | 0.000498672 | - | |
431_CYS | GLY |
gnomAD chr4:25125768 |
rs572892329
|
- | 0.00038279 | - | |
441_GLY | ARG |
8.3kJPN chr4:25125738 |
rs754992211
|
- | 0.0001 | - | |
452_LYS | ASN |
gnomAD chr4:25125703 |
rs2302566
|
- | 0.0662362 | - | |
452_LYS | ASN |
8.3kJPN chr4:25125703 |
rs2302566
|
- | 0.1098 | - | |
465_ARG | GLN |
gnomAD chr4:25125665 |
rs115959591
|
- | 0.00190732 | - | |
465_ARG | GLN |
8.3kJPN chr4:25125665 |
rs115959591
|
- | 0.0001 | - |