PDB ID | 5CC0 | CHAIN | B |
---|---|---|---|
Protein name | AncSR2 DNA Binding Domain | ||
PDB | 5CC0 | ||
The number of similar proteins | 60 | ||
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 | |
---|---|---|---|---|---|---|---|
418_SER | TER |
ClinVar chr4:149181228 |
rs2149871784
|
Likely pathogenic | - | Autosomal dominant pseudohypoaldosteronism type 1 [MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756] | |
420_THR | SER |
gnomAD chrX:66863156 |
rs139756052
|
- | 0.000131005 | - | |
423_ILE | THR |
ClinVar chrX:66863166 |
rs886041050
|
Likely pathogenic | - | Androgen resistance syndrome [MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429] | |
424_CYS | TYR |
ClinVar chrX:66863169 |
rs1555982860
|
Pathogenic | - | Androgen resistance syndrome [MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429] | |
430_GLY | TRP |
ClinVar chrX:66863186 |
rs1555982864
|
Likely pathogenic | - | Androgen resistance syndrome [MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429]; Kennedy disease [MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481] | |
433_TYR | CYS |
ClinVar chrX:66863196 |
rs1925886715
|
Pathogenic/Likely pathogenic | - | Androgen resistance syndrome [MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429]; Kennedy disease|Androgen resistance syndrome|AR-related condition [MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481|MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429|] | |
435_ALA | PRO |
ClinVar chrX:66863201 |
rs1057521121
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
439_GLY | ARG |
ClinVar chrX:66863213 |
rs137852596
|
Pathogenic | - | Androgen resistance syndrome [MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429] | |
440_SER | ARG |
ClinVar chrX:66863218 |
-
|
Likely pathogenic | - | Androgen resistance syndrome [MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429] | |
441_CYS | PHE |
ClinVar chrX:66863220 |
rs137852586
|
Pathogenic | - | Androgen resistance syndrome [MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429] | |
441_CYS | TYR |
ClinVar chrX:66863220 |
rs137852586
|
Pathogenic | - | Androgen resistance syndrome [MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429] | |
442_LYS | THR |
ClinVar chrX:66863223 |
rs2147436623
|
Likely pathogenic | - | Androgen resistance syndrome [MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429] | |
442_LYS | ASN |
ClinVar chrX:66863224 |
-
|
Likely pathogenic | - | Kennedy disease [MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481]; Androgen resistance syndrome [MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429] | |
444_PHE | TYR |
ClinVar chrX:66863229 |
rs137852587
|
Pathogenic | - | Androgen resistance syndrome [MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429] | |
444_PHE | LEU |
ClinVar chrX:66863230 |
-
|
Likely pathogenic | - | Androgen resistance syndrome [MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429] | |
447_ARG | TER |
ClinVar chrX:66863237 |
-
|
Pathogenic | - | Kennedy disease [MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481]; Androgen resistance syndrome [MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429] | |
451_GLY | ARG |
ClinVar chr4:149181130 |
rs121912566
|
Pathogenic | - | Autosomal dominant pseudohypoaldosteronism type 1 [MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756] | |
452_LYS | TER |
ClinVar chrX:66905854 |
rs137852566
|
Pathogenic | - | Androgen resistance syndrome [MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429] | |
457_CYS | TYR |
ClinVar chrX:66905870 |
-
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
458_ALA | THR |
ClinVar chrX:66905872 |
rs137852569
|
Pathogenic | - | Partial androgen insensitivity syndrome|Androgen resistance syndrome [MONDO:MONDO:0010720,MedGen:C0268301,OMIM:312300,Orphanet:90797|MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429]; Kennedy disease|not provided [MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481|MedGen:C3661900] | |
459_SER | GLY |
gnomAD chrX:66905875 |
rs142280455
|
- | 0.000305926 | - | |
463_CYS | TER |
ClinVar chr4:149115976 |
rs121912564
|
Pathogenic | - | Autosomal dominant pseudohypoaldosteronism type 1 [MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756] | |
463_CYS | GLY |
ClinVar chrX:66905887 |
rs878853033
|
Pathogenic | - | not provided [MedGen:CN517202] | |
463_CYS | TYR |
ClinVar chrX:66905888 |
rs1555990470
|
Likely pathogenic | - | Androgen resistance syndrome [MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429]; Kennedy disease [MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481] | |
466_ASP | HIS |
ClinVar chrX:66905896 |
rs1266872442
|
Likely pathogenic | - | not provided [MedGen:CN517202] | |
469_ARG | GLN |
ClinVar chrX:66905906 |
rs137852573
|
Pathogenic/Likely pathogenic | - | Partial androgen insensitivity syndrome|not provided|Androgen resistance syndrome [MONDO:MONDO:0010720,MedGen:C0268301,OMIM:312300,Orphanet:90797|MedGen:C3661900|MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429]; Kennedy disease [MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481] | |
469_ARG | TER |
ClinVar chrX:66905905 |
rs886041128
|
Pathogenic | - | not provided|Kennedy disease [MedGen:C3661900|MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481]; Androgen resistance syndrome [MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429] | |
469_ARG | TER |
ClinVar chr4:149115960 |
rs1131691921
|
Pathogenic/Likely pathogenic | - | not provided|Autosomal dominant pseudohypoaldosteronism type 1|Pseudohyperaldosteronism type 2 [MedGen:C3661900|MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756|MONDO:MONDO:0011517,MedGen:C1854631,OMIM:605115,Orphanet:88660]; Autosomal dominant pseudohypoaldosteronism type 1|NR3C2-related condition [MONDO:MONDO:0008329,MedGen:C1449842,OMIM:177735,Orphanet:171871,Orphanet:756|] | |
470_ARG | LYS |
ClinVar chrX:66905909 |
rs137852576
|
Pathogenic | - | Androgen insensitivity, partial, with breast cancer [MedGen:C4016581] | |
472_ASN | LYS |
ClinVar chrX:66905916 |
rs2075964906
|
Pathogenic | - | not provided [MedGen:C3661900] | |
477_ARG | HIS |
ClinVar chrX:66905930 |
rs754201976
|
Pathogenic | - | not provided|Kennedy disease [MedGen:C3661900|MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481]; Androgen resistance syndrome [MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429] | |
477_ARG | CYS |
ClinVar chrX:66905929 |
rs1555990485
|
Pathogenic/Likely pathogenic | - | Androgen resistance syndrome [MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429] | |
478_LEU | PRO |
ClinVar chrX:66905933 |
rs1555990488
|
Likely pathogenic | - | Androgen resistance syndrome [MONDO:MONDO:0019154,MedGen:C0039585,OMIM:300068,Orphanet:754,Orphanet:99429]; Kennedy disease [MONDO:MONDO:0010735,MedGen:C1839259,OMIM:313200,Orphanet:481] | |
479_ARG | TER |
ClinVar chr5:142689695 |
rs1658915833
|
Pathogenic | - | not provided [MedGen:C3661900] | |
479_ARG | GLN |
8.3kJPN chr5:142689694 |
rs1400646165
|
- | 0.0001 | - |