PDB ID | 1JY1 | CHAIN | A |
---|---|---|---|
Protein name | TYROSYL-DNA PHOSPHODIESTERASE | ||
Uniprot Accession | Q9NUW8 | ||
The number of similar proteins | 43 | ||
The number of binding states | 2 | ||
The number of binding partners | 1 |
Unicolor (beige)
The number of binding partners
Group
Only interaction residues |
|
||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
187_ASP | GLY | VAR_025820 |
rs35271143
|
LB/B | - | - | |
190_SER | PHE |
8.3kJPN chr14:90432500 |
-
|
- | 0.0001 | - | |
208_VAL | MET |
8.3kJPN chr14:90433729 |
rs776360792
|
- | 0.0004 | - | |
216_PRO | SER |
8.3kJPN chr14:90433753 |
-
|
- | 0.0002 | - | |
219_PHE | LEU |
gnomAD chr14:90433762 |
rs148474327
|
- | 0.00016304 | - | |
245_TYR | TER |
8.3kJPN chr14:90437594 |
rs778913360
|
- | - | - | |
262_HIS | GLN |
8.3kJPN chr14:90442154 |
-
|
- | 0.0002 | - | |
263_HIS | GLN |
8.3kJPN chr14:90442157 |
rs562317662
|
- | 0.0001 | - | |
276_ARG | TRP |
8.3kJPN chr14:90446918 |
rs757694490
|
- | 0.0001 | - | |
280_HIS | ARG |
8.3kJPN chr14:90446931 |
rs749517155
|
- | 0.0002 | - | |
289_TRP | CYS |
8.3kJPN chr14:90446959 |
-
|
- | 0.0001 | - | |
304_ARG | GLN | VAR_025821 |
rs34452707
|
LB/B | - | - | |
304_ARG | TER |
ClinVar chr14:90450885 |
rs370121773
|
Likely pathogenic | - | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 [MONDO:MONDO:0011801,MedGen:C4759870,OMIM:607250,Orphanet:94124] | |
304_ARG | GLN |
gnomAD chr14:90450886 |
rs34452707
|
- | 0.00156015 | - | |
304_ARG | TER |
8.3kJPN chr14:90450885 |
rs370121773
|
- | 0.0001 | - | |
311_LYS | GLU |
gnomAD chr14:90450906 |
rs753807686
|
- | 0.000167166 | - | |
346_ASP | HIS |
8.3kJPN chr14:90451011 |
rs199879149
|
- | 0.0001 | - | |
361_ARG | HIS |
8.3kJPN chr14:90451505 |
rs371563681
|
- | 0.0001 | - | |
389_ALA | THR |
gnomAD chr14:90455282 |
rs138044459
|
- | 0.000410009 | - | |
401_VAL | PHE |
8.3kJPN chr14:90455318 |
rs892739281
|
- | 0.0001 | - | |
418_GLU | LYS |
8.3kJPN chr14:90455369 |
rs759300952
|
- | 0.0001 | - | |
435_VAL | ILE |
8.3kJPN chr14:90455420 |
-
|
- | 0.0001 | - | |
448_ARG | GLN |
gnomAD chr14:90456086 |
rs144746398
|
- | 0.000286761 | - | |
487_ARG | HIS |
8.3kJPN chr14:90459746 |
rs567684858
|
- | 0.0001 | - | |
493_HIS | ARG | VAR_017144 |
rs119467003
|
LP/P | - | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 (SCAN1) [MIM:607250] | |
493_HIS | ARG |
ClinVar chr14:90459764 |
rs119467003
|
Pathogenic | - | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1|not provided [MONDO:MONDO:0011801,MedGen:C4759870,OMIM:607250,Orphanet:94124|MedGen:CN517202] | |
506_LYS | ARG |
8.3kJPN chr14:90459803 |
-
|
- | 0.0002 | - | |
569_THR | ALA | VAR_025822 |
rs35973343
|
LB/B | - | - | |
569_THR | ALA |
gnomAD chr14:90499510 |
rs35973343
|
- | 0.00111409 | - | |
578_PRO | GLN |
8.3kJPN chr14:90499538 |
-
|
- | 0.0001 | - | |
581_TYR | SER |
8.3kJPN chr14:90499547 |
-
|
- | 0.0001 | - | |
583_SER | GLY |
gnomAD chr14:90499552 |
rs201355368
|
- | 0.000350645 | - | |
600_THR | MET |
8.3kJPN chr14:90509459 |
rs772139596
|
- | 0.0001 | - |