PDB ID | 3SPA | CHAIN | A |
---|---|---|---|
Protein name | DNA-directed RNA polymerase, mitochondrial | ||
Uniprot Accession | O00411 | ||
The number of similar proteins | 5 | ||
The number of binding states | 3 | ||
The number of binding partners | 3 |
Unicolor (beige)
The number of binding partners
Group
Only interaction residues |
|
||||||||
|
Residue | AA | Source | dbSNP | Clinical Significance |
Allele Frequency (> 0.0001) |
Disease name | |
---|---|---|---|---|---|---|---|
229_PHE | SER |
8.3kJPN chr19:629676 |
-
|
- | 0.0002 | - | |
229_PHE | VAL |
8.3kJPN chr19:629677 |
-
|
- | 0.0002 | - | |
250_HIS | ASP | VAR_086919 |
rs137994680
|
LP/P | - | Combined oxidative phosphorylation deficiency 55 (COXPD55) [MIM:619743] | |
250_HIS | ASP |
ClinVar chr19:629614 |
rs137994680
|
Pathogenic | - | Combined oxidative phosphorylation deficiency 55 [MONDO:MONDO:0859228,MedGen:C5676915,OMIM:619743] | |
250_HIS | ASP |
gnomAD chr19:629614 |
rs137994680
|
- | 0.000195894 | - | |
253_ARG | TRP |
gnomAD chr19:629605 |
rs145312875
|
- | 0.000496922 | - | |
256_ARG | GLN |
gnomAD chr19:629595 |
rs140683573
|
- | 0.000452745 | - | |
263_MET | THR |
gnomAD chr19:629574 |
rs753398978
|
- | 0.000132226 | - | |
272_ALA | VAL |
8.3kJPN chr19:629547 |
rs1339218084
|
- | 0.0001 | - | |
273_ARG | GLN |
8.3kJPN chr19:629544 |
rs775562722
|
- | 0.0001 | - | |
294_PRO | LEU |
gnomAD chr19:625196 |
rs566027653
|
- | 0.00012341 | - | |
316_ILE | VAL |
gnomAD chr19:625131 |
rs115263594
|
- | 0.000911288 | - | |
318_ARG | SER |
8.3kJPN chr19:624905 |
-
|
- | 0.0004 | - | |
322_GLN | LEU |
gnomAD chr19:624894 |
rs138732981
|
- | 0.00996397 | - | |
323_MET | ILE |
gnomAD chr19:624890 |
rs143022703
|
- | 0.00228873 | - | |
327_GLY | ARG |
8.3kJPN chr19:624880 |
rs1332937945
|
- | 0.0001 | - | |
336_ALA | THR |
gnomAD chr19:624853 |
rs564966591
|
- | 0.00039563 | - | |
337_VAL | ILE |
8.3kJPN chr19:624850 |
rs201346718
|
- | 0.0001 | - | |
346_THR | ALA |
8.3kJPN chr19:624823 |
rs777572472
|
- | 0.0001 | - | |
357_THR | PRO |
8.3kJPN chr19:624790 |
rs770914181
|
- | 0.0002 | - | |
361_PRO | LEU |
gnomAD chr19:624777 |
rs141638617
|
- | 0.000147726 | - | |
362_PRO | LEU |
8.3kJPN chr19:624774 |
rs368177502
|
- | 0.0001 | - | |
362_PRO | SER |
8.3kJPN chr19:624775 |
-
|
- | 0.0001 | - | |
366_PRO | SER |
gnomAD chr19:624763 |
rs201473800
|
- | 0.000546653 | - | |
366_PRO | SER |
8.3kJPN chr19:624763 |
rs201473800
|
- | 0.0018 | - | |
367_PRO | LEU |
8.3kJPN chr19:624759 |
rs374260495
|
- | 0.0001 | - | |
367_PRO | ALA |
8.3kJPN chr19:624760 |
rs146221322
|
- | 0.0025 | - | |
368_VAL | ILE |
gnomAD chr19:624757 |
rs141630265
|
- | 0.00027521 | - | |
369_ASN | SER |
8.3kJPN chr19:624753 |
rs749862454
|
- | 0.0002 | - | |
400_PHE | LEU |
gnomAD chr19:623546 |
rs41553913
|
- | 0.0182972 | - | |
417_VAL | MET |
gnomAD chr19:623495 |
rs142443929
|
- | 0.000239383 | - | |
421_THR | ARG |
8.3kJPN chr19:623482 |
-
|
- | 0.0001 | - | |
429_HIS | ARG |
gnomAD chr19:623458 |
rs147681201
|
- | 0.000516235 | - | |
438_ARG | GLN |
8.3kJPN chr19:622963 |
-
|
- | 0.0002 | - | |
441_TRP | SER |
8.3kJPN chr19:622954 |
-
|
- | 0.0001 | - | |
444_ALA | VAL |
gnomAD chr19:622945 |
rs148655029
|
- | 0.000185284 | - | |
447_ARG | GLN |
gnomAD chr19:622936 |
rs144179084
|
- | 0.000362585 | - | |
447_ARG | GLN |
8.3kJPN chr19:622936 |
rs144179084
|
- | 0.0009 | - | |
464_ARG | TRP |
8.3kJPN chr19:622886 |
rs775678643
|
- | 0.0001 | - | |
473_LEU | VAL |
8.3kJPN chr19:622859 |
-
|
- | 0.0001 | - | |
481_ARG | PRO |
gnomAD chr19:622834 |
rs146178977
|
- | 0.000660123 | - | |
482_MET | ILE |
gnomAD chr19:622830 |
rs138594532
|
- | 0.000115381 | - | |
482_MET | VAL |
gnomAD chr19:622832 |
rs141490879
|
- | 0.000675133 | - | |
482_MET | LEU |
8.3kJPN chr19:622832 |
rs141490879
|
- | - | - | |
483_LEU | PHE |
8.3kJPN chr19:622829 |
rs760945130
|
- | 0.0001 | - | |
500_LEU | PRO |
8.3kJPN chr19:622709 |
-
|
- | 0.0001 | - | |
509_PHE | LEU |
8.3kJPN chr19:622681 |
-
|
- | 0.0001 | - | |
511_ARG | GLN |
8.3kJPN chr19:622676 |
rs1245111840
|
- | 0.0001 | - | |
526_LEU | VAL |
8.3kJPN chr19:622632 |
-
|
- | 0.0002 | - | |
534_LEU | PHE |
8.3kJPN chr19:622608 |
rs764456049
|
- | 0.0002 | - | |
539_SER | PHE |
gnomAD chr19:622592 |
rs143834673
|
- | 0.000145163 | - | |
541_ALA | SER |
gnomAD chr19:622587 |
rs56226067
|
- | 0.000497573 | - | |
541_ALA | SER |
8.3kJPN chr19:622587 |
rs56226067
|
- | 0.011 | - | |
545_GLU | LYS |
gnomAD chr19:622367 |
rs115950441
|
- | 0.000486084 | - | |
550_ARG | TRP |
8.3kJPN chr19:622352 |
-
|
- | 0.0001 | - | |
551_GLN | HIS |
gnomAD chr19:622347 |
rs202005794
|
- | 0.000585587 | - | |
555_GLU | ALA |
gnomAD chr19:622336 |
rs2238549
|
- | 0.508629 | - | |
555_GLU | ALA |
8.3kJPN chr19:622336 |
rs2238549
|
- | 0.5496 | - | |
558_ALA | THR |
8.3kJPN chr19:622328 |
rs755299102
|
- | 0.0004 | - | |
566_PRO | SER | VAR_086920 |
rs41545023
|
LP/P | - | Combined oxidative phosphorylation deficiency 55 (COXPD55) [MIM:619743] | |
566_PRO | SER |
gnomAD chr19:622304 |
rs41545023
|
- | 0.00130765 | - | |
611_SER | PHE | VAR_086921 |
-
|
LP/P | - | Combined oxidative phosphorylation deficiency 55 (COXPD55) [MIM:619743] | |
611_SER | PHE |
ClinVar chr19:622168 |
rs2144625053
|
Pathogenic | - | Combined oxidative phosphorylation deficiency 55 [MONDO:MONDO:0859228,MedGen:C5676915,OMIM:619743] | |
616_GLN | TER |
8.3kJPN chr19:622154 |
rs768967483
|
- | 0.0001 | - | |
623_PRO | LEU |
gnomAD chr19:621830 |
rs370122679
|
- | 0.000153284 | - | |
626_ALA | THR |
8.3kJPN chr19:621822 |
rs747554799
|
- | 0.0005 | - | |
641_PHE | LEU | VAR_086922 |
-
|
LP/P | - | Combined oxidative phosphorylation deficiency 55 (COXPD55) [MIM:619743] | |
641_PHE | LEU |
ClinVar chr19:621775 |
rs748687181
|
Pathogenic | - | Combined oxidative phosphorylation deficiency 55 [MONDO:MONDO:0859228,MedGen:C5676915,OMIM:619743] | |
643_ALA | VAL |
gnomAD chr19:621770 |
rs775041868
|
- | 0.000105331 | - | |
656_THR | LYS |
gnomAD chr19:621731 |
rs150982430
|
- | 0.000123003 | - | |
678_THR | MET |
8.3kJPN chr19:621665 |
rs1430315671
|
- | 0.0001 | - | |
681_GLN | TER |
8.3kJPN chr19:621657 |
rs776192083
|
- | 0.0001 | - | |
683_LEU | VAL |
8.3kJPN chr19:621651 |
rs770415736
|
- | 0.0004 | - | |
685_GLU | GLY |
8.3kJPN chr19:621644 |
-
|
- | 0.0001 | - | |
688_PRO | SER |
8.3kJPN chr19:621636 |
-
|
- | 0.0002 | - | |
691_ALA | VAL |
8.3kJPN chr19:621626 |
-
|
- | 0.0001 | - | |
698_ALA | THR |
8.3kJPN chr19:621606 |
-
|
- | 0.0001 | - | |
699_LEU | VAL |
gnomAD chr19:621603 |
rs376907483
|
- | 0.000356023 | - | |
711_GLY | GLU |
gnomAD chr19:621566 |
rs768516790
|
- | 0.000281365 | - | |
711_GLY | ARG |
gnomAD chr19:621567 |
rs200645726
|
- | 0.00030686 | - | |
712_ARG | LEU |
8.3kJPN chr19:621563 |
rs547767015
|
- | - | - | |
713_VAL | LEU |
gnomAD chr19:621561 |
rs10421235
|
- | 0.0593861 | - | |
713_VAL | LEU |
8.3kJPN chr19:621561 |
rs10421235
|
- | 0.0862 | - | |
717_VAL | MET |
8.3kJPN chr19:621549 |
rs1380944961
|
- | 0.0004 | - | |
723_ALA | VAL |
8.3kJPN chr19:621530 |
rs1363815639
|
- | 0.0177 | - | |
726_CYS | TYR |
8.3kJPN chr19:621521 |
rs562147939
|
- | 0.0001 | - | |
734_PRO | LEU |
8.3kJPN chr19:621497 |
rs1267559063
|
- | 0.0001 | - | |
734_PRO | SER |
8.3kJPN chr19:621498 |
-
|
- | 0.0001 | - | |
735_PRO | LEU |
gnomAD chr19:621494 |
rs758721890
|
- | 0.000183824 | - | |
788_HIS | ASP |
8.3kJPN chr19:621336 |
-
|
- | 0.0001 | - | |
806_THR | PRO |
8.3kJPN chr19:621282 |
rs757781469
|
- | 0.0002 | - | |
807_TYR | SER |
8.3kJPN chr19:621278 |
-
|
- | 0.0015 | - | |
808_PRO | SER |
8.3kJPN chr19:621276 |
rs778477461
|
- | 0.0002 | - | |
810_PRO | SER | VAR_086924 |
-
|
US | - | Combined oxidative phosphorylation deficiency 55 (COXPD55) [MIM:619743] | |
810_PRO | SER |
ClinVar chr19:621270 |
rs201364510
|
Pathogenic | - | Combined oxidative phosphorylation deficiency 55 [MONDO:MONDO:0859228,MedGen:C5676915,OMIM:619743] | |
810_PRO | SER |
gnomAD chr19:621270 |
rs201364510
|
- | 0.0012648 | - | |
822_ARG | GLY |
8.3kJPN chr19:621234 |
-
|
- | 0.0001 | - | |
840_TRP | TER |
8.3kJPN chr19:621179 |
-
|
- | 0.0001 | - | |
843_ILE | VAL |
8.3kJPN chr19:621171 |
rs751459962
|
- | 0.0002 | - | |
858_ARG | TRP |
gnomAD chr19:621126 |
rs559084202
|
- | 0.000252774 | - | |
859_LYS | MET |
8.3kJPN chr19:621122 |
-
|
- | 0.0001 | - | |
864_ALA | VAL |
8.3kJPN chr19:621107 |
rs775039991
|
- | 0.0001 | - | |
870_ASP | ASN | VAR_086925 |
-
|
US | - | Combined oxidative phosphorylation deficiency 55 (COXPD55) [MIM:619743] | |
870_ASP | ASN |
ClinVar chr19:621090 |
rs139383492
|
Pathogenic | - | Combined oxidative phosphorylation deficiency 55 [MONDO:MONDO:0859228,MedGen:C5676915,OMIM:619743] | |
870_ASP | ASN |
gnomAD chr19:621090 |
rs139383492
|
- | 0.00322541 | - | |
875_ALA | VAL |
8.3kJPN chr19:621074 |
rs767856533
|
- | 0.0002 | - | |
877_GLN | ARG |
gnomAD chr19:621068 |
rs759041307
|
- | 0.000112776 | - | |
884_TRP | SER |
8.3kJPN chr19:620477 |
-
|
- | 0.0001 | - | |
898_CYS | SER |
gnomAD chr19:620435 |
rs143868040
|
- | 0.000102751 | - | |
900_GLU | LYS |
8.3kJPN chr19:620430 |
rs796052172
|
- | 0.0001 | - | |
903_ASN | LYS |
8.3kJPN chr19:620419 |
-
|
- | 0.0001 | - | |
925_CYS | TER |
ClinVar chr19:620069 |
rs55752843
|
Pathogenic | - | Combined oxidative phosphorylation deficiency 55 [MONDO:MONDO:0859228,MedGen:C5676915,OMIM:619743] | |
941_ALA | THR |
8.3kJPN chr19:620023 |
-
|
- | 0.0001 | - | |
947_GLU | LYS |
gnomAD chr19:620005 |
rs151235528
|
- | 0.00187343 | - | |
954_ASP | GLU |
gnomAD chr19:619982 |
rs200607630
|
- | 0.000103446 | - | |
963_VAL | MET |
8.3kJPN chr19:619765 |
-
|
- | 0.0001 | - | |
994_VAL | GLY |
8.3kJPN chr19:619671 |
-
|
- | 0.0002 | - | |
1013_ARG | CYS | VAR_086927 |
-
|
LP/P | - | Combined oxidative phosphorylation deficiency 55 (COXPD55) [MIM:619743] | |
1013_ARG | CYS |
ClinVar chr19:619615 |
rs745348188
|
Pathogenic | - | Combined oxidative phosphorylation deficiency 55 [MONDO:MONDO:0859228,MedGen:C5676915,OMIM:619743] | |
1014_LEU | PHE |
8.3kJPN chr19:619612 |
-
|
- | 0.0001 | - | |
1015_ARG | TRP |
8.3kJPN chr19:619609 |
rs751370183
|
- | 0.0005 | - | |
1034_ARG | CYS |
8.3kJPN chr19:619263 |
-
|
- | 0.0045 | - | |
1041_GLN | LYS |
8.3kJPN chr19:619242 |
-
|
- | 0.0006 | - | |
1045_SER | LEU |
gnomAD chr19:619229 |
rs199504612
|
- | 0.000135683 | - | |
1059_ARG | CYS |
8.3kJPN chr19:619089 |
rs757765767
|
- | 0.0001 | - | |
1076_VAL | ILE |
8.3kJPN chr19:619038 |
rs746274300
|
- | 0.0001 | - | |
1078_VAL | ILE |
8.3kJPN chr19:619032 |
rs370808958
|
- | 0.0001 | - | |
1113_ARG | GLY |
8.3kJPN chr19:618573 |
rs751211087
|
- | 0.0002 | - | |
1117_ASN | SER |
8.3kJPN chr19:618560 |
-
|
- | 0.0001 | - | |
1120_PRO | LEU |
8.3kJPN chr19:618551 |
rs772321080
|
- | 0.0002 | - | |
1148_SER | PHE |
8.3kJPN chr19:617829 |
-
|
- | 0.0001 | - | |
1149_VAL | MET |
8.3kJPN chr19:617827 |
-
|
- | 0.0001 | - | |
1159_ASP | ALA |
8.3kJPN chr19:617796 |
-
|
- | 0.0001 | - | |
1173_ARG | CYS |
gnomAD chr19:617634 |
rs147740567
|
- | 0.000437235 | - | |
1190_ARG | GLN |
gnomAD chr19:617582 |
rs150648879
|
- | 0.000168809 | - | |
1193_SER | PHE | VAR_086928 |
rs142850300
|
LP/P | - | Combined oxidative phosphorylation deficiency 55 (COXPD55) [MIM:619743] | |
1193_SER | PHE |
gnomAD chr19:617573 |
rs142850300
|
- | 0.00122324 | - | |
1198_ILE | LEU |
gnomAD chr19:617470 |
rs138715064
|
- | 0.000114987 | - | |
1199_LEU | SER |
gnomAD chr19:617466 |
rs151287767
|
- | 0.0061553 | - | |
1218_ASP | HIS |
8.3kJPN chr19:617315 |
rs563746524
|
- | 0.0001 | - | |
1220_GLU | GLY |
8.3kJPN chr19:617308 |
rs905785861
|
- | 0.0001 | - |