PDB ID | 2FFU | CHAIN | A |
---|---|---|---|
Protein name | Polypeptide N-acetylgalactosaminyltransferase 2 | ||
Uniprot Accession | Q10471 | ||
The number of similar proteins | 17 | ||
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 | |
---|---|---|---|---|---|---|---|
77_ARG | GLN |
8.3kJPN chr1:230338892 |
rs184261638
|
- | 0.0002 | - | |
89_GLY | ARG |
8.3kJPN chr1:230338927 |
rs778993510
|
- | 0.0001 | - | |
90_THR | MET |
8.3kJPN chr1:230338931 |
rs1326959932
|
- | 0.0001 | - | |
100_ALA | THR |
8.3kJPN chr1:230338960 |
rs1370421490
|
- | 0.0001 | - | |
104_PHE | SER | VAR_084283 |
rs1663960324
|
LP/P | - | Congenital disorder of glycosylation 2T (CDG2T) [MIM:618885] | |
104_PHE | SER |
ClinVar chr1:230338973 |
rs1663960324
|
Likely pathogenic | - | Congenital disorder of glycosylation, type iit [MONDO:MONDO:0030043,MedGen:C5394387,OMIM:618885] | |
113_ARG | GLN |
8.3kJPN chr1:230339000 |
rs749888628
|
- | - | - | |
128_ARG | TRP |
8.3kJPN chr1:230371767 |
rs779465339
|
- | 0.0005 | - | |
181_PRO | ALA |
8.3kJPN chr1:230372166 |
rs537078461
|
- | 0.0001 | - | |
186_LEU | PHE |
8.3kJPN chr1:230372420 |
rs888099654
|
- | 0.0001 | - | |
200_ARG | TER |
ClinVar chr1:230372462 |
rs1431963909
|
Pathogenic | - | Congenital disorder of glycosylation, type iit|not provided [MONDO:MONDO:0030043,MedGen:C5394387,OMIM:618885|MedGen:C3661900] | |
208_ARG | GLN |
ClinVar chr1:230379067 |
rs2102741708
|
Likely pathogenic | - | Congenital disorder of glycosylation, type iit [MONDO:MONDO:0030043,MedGen:C5394387,OMIM:618885] | |
210_ARG | PRO | VAR_084285 |
-
|
LP/P | - | Congenital disorder of glycosylation 2T (CDG2T) [MIM:618885] | |
210_ARG | PRO |
ClinVar chr1:230379073 |
rs376870425
|
Likely pathogenic | - | Congenital disorder of glycosylation, type iit [MONDO:MONDO:0030043,MedGen:C5394387,OMIM:618885] | |
210_ARG | GLN |
8.3kJPN chr1:230379073 |
rs376870425
|
- | 0.0001 | - | |
216_GLN | HIS |
gnomAD chr1:230379092 |
rs142046356
|
- | 0.00154706 | - | |
241_VAL | MET |
8.3kJPN chr1:230379165 |
-
|
- | 0.0001 | - | |
245_ARG | HIS | VAR_049240 |
rs1923950
|
LB/B | - | - | |
245_ARG | GLY |
8.3kJPN chr1:230381812 |
-
|
- | 0.0001 | - | |
247_ARG | GLN |
8.3kJPN chr1:230381819 |
rs760418370
|
- | 0.0002 | - | |
271_LYS | ARG | VAR_084286 |
-
|
US | - | - | |
289_GLN | TER |
ClinVar chr1:230384977 |
rs1665467473
|
Pathogenic | - | Congenital disorder of glycosylation, type iit [MONDO:MONDO:0030043,MedGen:C5394387,OMIM:618885] | |
293_ARG | TRP |
8.3kJPN chr1:230384989 |
rs773042550
|
- | 0.0001 | - | |
294_GLN | TER |
8.3kJPN chr1:230384992 |
-
|
- | 0.0001 | - | |
299_ALA | THR |
gnomAD chr1:230385007 |
rs199925000
|
- | 0.000111406 | - | |
314_ASP | ALA |
gnomAD chr1:230386238 |
rs78164071
|
- | 0.00237836 | - | |
315_LYS | ARG |
8.3kJPN chr1:230386241 |
-
|
- | 0.0002 | - | |
326_MET | VAL |
8.3kJPN chr1:230386273 |
rs1490001955
|
- | 0.0001 | - | |
327_MET | ILE |
8.3kJPN chr1:230386278 |
rs777276912
|
- | 0.0001 | - | |
341_ARG | HIS |
8.3kJPN chr1:230390976 |
rs755413572
|
- | 0.0001 | - | |
342_VAL | LEU |
8.3kJPN chr1:230390978 |
-
|
- | 0.0001 | - | |
370_PRO | LEU |
8.3kJPN chr1:230391063 |
rs376128700
|
- | 0.0001 | - | |
445_ILE | VAL |
gnomAD chr1:230401006 |
rs201830158
|
- | 0.000206768 | - | |
489_SER | LEU |
8.3kJPN chr1:230410216 |
rs769823155
|
- | 0.0003 | - | |
493_MET | VAL | VAR_084288 |
rs774570005
|
LB/B | - | - | |
502_ARG | GLN |
gnomAD chr1:230410255 |
rs144216012
|
- | 0.000274588 | - | |
502_ARG | GLN |
8.3kJPN chr1:230410255 |
rs144216012
|
- | 0.0001 | - | |
534_VAL | MET |
gnomAD chr1:230415088 |
rs141375194
|
- | 0.000123441 | - | |
543_ARG | HIS |
8.3kJPN chr1:230415116 |
rs201604838
|
- | 0.0001 | - | |
554_VAL | MET | VAR_019575 |
rs2273970
|
LB/B | - | - | |
554_VAL | MET |
gnomAD chr1:230415148 |
rs2273970
|
- | 0.0911089 | - | |
554_VAL | MET |
8.3kJPN chr1:230415148 |
rs2273970
|
- | 0.2832 | - | |
557_PRO | LEU |
8.3kJPN chr1:230415158 |
rs755670523
|
- | 0.0002 | - |