PDB ID | 1L9M | CHAIN | A |
---|---|---|---|
Protein name | Protein-glutamine glutamyltransferase E3 | ||
Uniprot Accession | Q08188 | ||
The number of similar proteins | 10 | ||
The number of binding states | 3 | ||
The number of binding partners | 2 |
Unicolor (beige)
The number of binding partners
Group
Only interaction residues |
|
||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
1_ALA | VAL |
8.3kJPN chr20:2276714 |
-
|
- | 0.0001 | - | |
12_THR | LYS | VAR_040067 |
rs214803
|
LB/B | - | - | |
12_THR | LYS |
gnomAD chr20:2290333 |
rs214803
|
- | 0.81927 | - | |
12_THR | LYS |
8.3kJPN chr20:2290333 |
rs214803
|
- | 0.9584 | - | |
13_ALA | GLY |
gnomAD chr20:2290336 |
rs749279971
|
- | 0.000286385 | - | |
25_SER | PRO |
8.3kJPN chr20:2290371 |
-
|
- | 0.0002 | - | |
32_ARG | TRP |
8.3kJPN chr20:2290392 |
rs1335768228
|
- | 0.0001 | - | |
38_GLN | HIS |
8.3kJPN chr20:2290412 |
-
|
- | 0.0002 | - | |
77_ASN | SER |
gnomAD chr20:2290875 |
rs151028271
|
- | 0.000143334 | - | |
85_ALA | VAL |
8.3kJPN chr20:2290899 |
rs774924175
|
- | 0.0001 | - | |
92_GLY | ASP |
gnomAD chr20:2290920 |
rs544584169
|
- | 0.000298567 | - | |
105_ALA | THR |
8.3kJPN chr20:2290958 |
rs146616453
|
- | 0.0001 | - | |
109_ARG | TRP |
gnomAD chr20:2290970 |
rs139117716
|
- | 0.000123322 | - | |
109_ARG | TRP |
8.3kJPN chr20:2290970 |
rs139117716
|
- | 0.0001 | - | |
109_ARG | GLN |
8.3kJPN chr20:2290971 |
rs779784575
|
- | 0.0001 | - | |
112_MET | VAL |
8.3kJPN chr20:2290979 |
rs768258292
|
- | 0.0001 | - | |
112_MET | ILE |
8.3kJPN chr20:2290981 |
-
|
- | 0.0001 | - | |
121_GLY | SER |
gnomAD chr20:2291006 |
rs551977439
|
- | 0.00048541 | - | |
162_ILE | LEU | VAR_040068 |
rs6048066
|
LB/B | - | - | |
162_ILE | LEU |
gnomAD chr20:2291722 |
rs6048066
|
- | 0.027171 | - | |
187_ILE | VAL |
8.3kJPN chr20:2293565 |
rs749575246
|
- | 0.0008 | - | |
204_THR | SER |
8.3kJPN chr20:2293617 |
-
|
- | 0.0001 | - | |
215_VAL | ILE |
8.3kJPN chr20:2293649 |
rs113905463
|
- | 0.0001 | - | |
225_SER | ASN |
gnomAD chr20:2297721 |
rs146227949
|
- | 0.000569104 | - | |
242_GLY | SER |
8.3kJPN chr20:2297771 |
rs143810711
|
- | 0.0002 | - | |
244_ARG | TRP |
8.3kJPN chr20:2297777 |
rs202051623
|
- | 0.0003 | - | |
247_ARG | SER |
8.3kJPN chr20:2297788 |
-
|
- | 0.0001 | - | |
248_SER | ASN | VAR_040069 |
rs214814
|
LB/B | - | - | |
248_SER | ASN |
gnomAD chr20:2297790 |
rs214814
|
- | 0.10867 | - | |
248_SER | CYS |
8.3kJPN chr20:2297789 |
-
|
- | 0.0001 | - | |
248_SER | ASN |
8.3kJPN chr20:2297790 |
rs214814
|
- | 0.0734 | - | |
251_GLY | SER |
8.3kJPN chr20:2297798 |
rs372347727
|
- | 0.0001 | - | |
268_ARG | LEU |
8.3kJPN chr20:2297850 |
rs150052126
|
- | 0.0001 | - | |
315_MET | THR |
8.3kJPN chr20:2298095 |
rs754582243
|
- | 0.0004 | - | |
319_LEU | PRO |
8.3kJPN chr20:2298107 |
rs539342653
|
- | 0.0001 | - | |
326_VAL | ILE |
gnomAD chr20:2298127 |
rs370121854
|
- | 0.000218954 | - | |
347_GLY | SER |
gnomAD chr20:2306553 |
rs139599978
|
- | 0.000308537 | - | |
356_PRO | LEU |
gnomAD chr20:2306581 |
rs200497601
|
- | 0.000204431 | - | |
383_PHE | LEU |
8.3kJPN chr20:2308830 |
rs575267128
|
- | 0.0039 | - | |
384_ASP | ASN |
8.3kJPN chr20:2308831 |
rs189594278
|
- | 0.0041 | - | |
390_ALA | THR |
8.3kJPN chr20:2308849 |
rs141575267
|
- | 0.0001 | - | |
395_ASP | ASN |
8.3kJPN chr20:2308864 |
rs375593105
|
- | 0.0001 | - | |
396_ARG | HIS |
8.3kJPN chr20:2308868 |
rs146171554
|
- | 0.0001 | - | |
402_ASP | ASN |
8.3kJPN chr20:2308885 |
rs778672902
|
- | 0.0002 | - | |
405_THR | ALA |
gnomAD chr20:2308894 |
rs539884508
|
- | 0.000425485 | - | |
406_GLY | VAL |
8.3kJPN chr20:2308898 |
-
|
- | 0.0001 | - | |
416_HIS | ASP |
gnomAD chr20:2308927 |
rs150302326
|
- | 0.000338034 | - | |
432_ARG | CYS |
gnomAD chr20:2308975 |
rs780553362
|
- | 0.000159148 | - | |
432_ARG | CYS |
8.3kJPN chr20:2308975 |
rs780553362
|
- | 0.0001 | - | |
432_ARG | LEU |
8.3kJPN chr20:2308976 |
rs551559240
|
- | 0.0001 | - | |
438_LYS | ASN |
8.3kJPN chr20:2308995 |
-
|
- | 0.0001 | - | |
443_GLU | GLN |
8.3kJPN chr20:2309008 |
-
|
- | 0.0001 | - | |
450_GLN | TER |
ClinVar chr20:2312665 |
rs779702016
|
Pathogenic | - | Uncombable hair syndrome 2 [MONDO:MONDO:0014989,MedGen:C4310649,OMIM:617251] | |
451_VAL | GLY |
8.3kJPN chr20:2312669 |
-
|
- | 0.0001 | - | |
486_LEU | MET |
8.3kJPN chr20:2312773 |
-
|
- | 0.0001 | - | |
491_MET | LEU |
gnomAD chr20:2312788 |
rs201410609
|
- | 0.000175042 | - | |
528_THR | MET |
gnomAD chr20:2312900 |
rs563551325
|
- | 0.000203601 | - | |
541_SER | THR |
8.3kJPN chr20:2312938 |
rs200893750
|
- | 0.0006 | - | |
557_ALA | THR |
gnomAD chr20:2315791 |
rs199889633
|
- | 0.000119342 | - | |
557_ALA | THR |
8.3kJPN chr20:2315791 |
rs199889633
|
- | 0.0008 | - | |
569_ILE | PHE |
8.3kJPN chr20:2315827 |
-
|
- | 0.0002 | - | |
570_ARG | GLN |
8.3kJPN chr20:2315831 |
rs531290820
|
- | 0.0007 | - | |
575_CYS | TYR |
8.3kJPN chr20:2315846 |
rs761258830
|
- | 0.0002 | - | |
578_PRO | LEU |
8.3kJPN chr20:2315855 |
rs761142782
|
- | 0.0001 | - | |
580_GLU | ASP |
gnomAD chr20:2315862 |
rs145272149
|
- | 0.000103402 | - | |
582_GLU | ASP |
gnomAD chr20:2315868 |
rs137862904
|
- | 0.00014717 | - | |
587_ARG | TRP |
gnomAD chr20:2315881 |
rs187614014
|
- | 0.00010744 | - | |
592_ASP | HIS |
8.3kJPN chr20:2315896 |
-
|
- | 0.0002 | - | |
603_GLU | LYS |
gnomAD chr20:2320509 |
rs199983032
|
- | 0.000103638 | - | |
635_GLY | SER |
8.3kJPN chr20:2320605 |
rs367606978
|
- | 0.0001 | - | |
646_PRO | ARG |
gnomAD chr20:2321085 |
rs200294064
|
- | 0.000224514 | - | |
649_GLY | GLU |
gnomAD chr20:2321094 |
rs114998364
|
- | 0.00212916 | - | |
653_GLY | ARG |
gnomAD chr20:2321105 |
rs214830
|
- | 0.708568 | - | |
653_GLY | TRP |
8.3kJPN chr20:2321105 |
rs214830
|
- | - | - | |
655_ARG | TRP |
gnomAD chr20:2321111 |
rs151074346
|
- | 0.000523113 | - | |
657_ARG | HIS |
gnomAD chr20:2321118 |
rs190943274
|
- | 0.000107732 | - | |
657_ARG | CYS |
8.3kJPN chr20:2321117 |
rs760403495
|
- | 0.0001 | - | |
664_ARG | TRP |
gnomAD chr20:2321138 |
rs150949349
|
- | 0.0030721 | - | |
664_ARG | GLN |
gnomAD chr20:2321139 |
rs149720612
|
- | 0.00145828 | - | |
664_ARG | GLN |
8.3kJPN chr20:2321139 |
rs149720612
|
- | 0.0001 | - | |
665_SER | CYS |
8.3kJPN chr20:2321141 |
-
|
- | 0.0001 | - | |
668_LYS | GLU |
8.3kJPN chr20:2321150 |
rs781210245
|
- | 0.0002 | - | |
672_ALA | THR |
gnomAD chr20:2321162 |
rs535186868
|
- | 0.000318558 | - | |
672_ALA | VAL |
gnomAD chr20:2321163 |
rs146717993
|
- | 0.00106708 | - | |
673_ASP | GLU |
gnomAD chr20:2321167 |
rs186345115
|
- | 0.000111477 | - | |
673_ASP | ASN |
8.3kJPN chr20:2321165 |
rs140423684
|
- | 0.0001 | - | |
673_ASP | GLU |
8.3kJPN chr20:2321167 |
rs186345115
|
- | 0.0001 | - | |
679_PHE | LEU |
gnomAD chr20:2321183 |
rs145595091
|
- | 0.00163197 | - | |
686_LEU | MET | VAR_055360 |
rs45581032
|
LB/B | - | - | |
686_LEU | MET |
gnomAD chr20:2321204 |
rs45581032
|
- | 0.00010349 | - | |
686_LEU | MET |
8.3kJPN chr20:2321204 |
rs45581032
|
- | 0.0001 | - | |
688_ILE | VAL |
8.3kJPN chr20:2321210 |
rs1568636134
|
- | 0.0002 | - |