P36551
PR
Gene name |
CPOX |
Protein name |
Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial |
Names |
COX, Coprogen oxidase, Coproporphyrinogenase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1371 |
EC number |
1.3.3.3: With oxygen as acceptor |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for P36551
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2AEX | X-ray | 158 A | A | 111-454 | PDB |
| AF-P36551-F1 | Predicted | AlphaFoldDB |
383 variants for P36551
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA114299 RCV000000487 rs121917871 |
29 | Q>* | Coproporphyria [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA10616819 RCV000348093 rs886058952 |
29 | Q>P | Hereditary coproporphyria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_084511 | 29 | Q>del | HCP [UniProt] | Yes | UniProt |
|
rs886058951 CA10619776 RCV000309465 |
42 | S>T | Hereditary coproporphyria [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000397238 rs886058950 CA10619762 |
44 | A>S | Hereditary coproporphyria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000000483 rs786205053 RCV000483708 |
45 | G>missing | Coproporphyria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000795018 rs886058948 CA10616816 RCV000386678 |
56 | T>M | Hereditary coproporphyria [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002557145 CA2511753 rs572522263 RCV001146747 |
71 | G>A | Hereditary coproporphyria [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000281576 CA2511741 RCV000879640 rs192332456 |
95 | H>R | Hereditary coproporphyria [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2511736 rs367822877 RCV000373961 RCV001753816 |
100 | E>V | Hereditary coproporphyria [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs147219463 RCV000379879 RCV000523448 CA2511710 |
132 | A>V | Hereditary coproporphyria [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201826432 CA2511708 VAR_023444 |
135 | V>A | HCP [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001144782 rs1707510560 |
153 | E>V | Hereditary coproporphyria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1707510266 RCV001144781 |
158 | E>D | Hereditary coproporphyria [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001858662 RCV000987299 CA353646385 rs1576306536 |
160 | Q>* | Hereditary coproporphyria [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_002151 | 162 | Q>del | HCP [UniProt] | Yes | UniProt |
|
CA2511697 rs535432218 RCV000322988 RCV000487314 CA2511698 |
163 | V>L | Hereditary coproporphyria [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs786205054 RCV000000484 |
164 | C>missing | Coproporphyria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs199514514 RCV001092356 RCV001150886 CA2511691 |
174 | A>T | Hereditary coproporphyria [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001150885 rs1707508760 |
177 | S>F | Hereditary coproporphyria [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2511671 rs759347283 VAR_002152 |
189 | G>S | Variant assessed as Somatic; 0.0 impact. HCP; <5% of activity [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| VAR_002153 | 197 | G>W | HCP [UniProt] | Yes | UniProt |
|
rs1374394802 VAR_002154 CA353646106 RCV001048440 |
201 | E>K | Variant assessed as Somatic; 0.0 impact. HCP [NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
rs121917872 VAR_019067 CA114302 RCV000000489 |
208 | S>F | Coproporphyria HCP [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_023445 | 214 | L>R | HCP [UniProt] | Yes | UniProt |
| VAR_023446 | 249 | P>R | HCP [UniProt] | Yes | UniProt |
| VAR_002155 | 249 | P>S | HCP [UniProt] | Yes | UniProt |
|
rs77432735 CA2511617 RCV001150883 |
256 | T>A | Hereditary coproporphyria [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2511584 RCV001699469 RCV000271442 RCV001517926 VAR_002156 rs1131857 RCV001844135 |
272 | N>H | Hereditary coproporphyria Acute intermittent porphyria [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_058005 RCV000000492 rs121917874 CA114304 |
279 | G>R | Coproporphyria, digenic HCP; a patient carrying also the L-12 mutation in ALAD [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
| VAR_002157 | 280 | G>R | HCP [UniProt] | Yes | UniProt |
|
rs1559677768 RCV000000491 |
286 | T>missing | Coproporphyria [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2228056 RCV000363770 RCV001516922 VAR_002158 CA2511572 |
294 | V>I | Hereditary coproporphyria [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000000485 CA114298 rs121917870 VAR_002159 |
295 | H>D | Coproporphyria HCP [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000114373 VAR_084512 CA151148 rs587777271 |
327 | H>R | Harderoporphyria HARPO [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA114303 VAR_019068 RCV000000490 rs121917873 |
328 | R>C | Coproporphyria HCP [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs121917866 RCV000000480 CA114296 VAR_002160 |
331 | R>W | Coproporphyria HCP [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA2511539 RCV001147556 rs201071538 |
343 | D>V | Hereditary coproporphyria [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
VAR_048827 RCV000393267 rs11921054 RCV001517924 CA2511533 |
352 | R>C | Hereditary coproporphyria [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2511520 rs778583962 RCV000352251 |
370 | K>E | Hereditary coproporphyria [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001882449 rs201231166 CA2511514 RCV001146648 |
380 | Q>E | Hereditary coproporphyria [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_002161 | 390 | G>del | HCP [UniProt] | Yes | UniProt |
|
RCV000498398 RCV002496220 rs121917868 RCV000000482 CA114297 VAR_002162 |
404 | K>E | Hereditary coproporphyria Harderoporphyria HARPO [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
| VAR_002163 | 427 | W>R | HCP [UniProt] | Yes | UniProt |
|
RCV000415159 VAR_019069 rs28931603 CA114301 RCV000000488 RCV001046689 |
447 | R>C | Hereditary coproporphyria Coproporphyria HCP [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA353647340 rs1323789371 |
2 | A>V | No |
ClinGen gnomAD |
|
|
CA353647326 rs1358667993 |
4 | Q>P | No |
ClinGen TOPMed |
|
|
rs1365155387 CA353647315 |
6 | G>D | No |
ClinGen gnomAD |
|
|
rs1021619815 CA80083889 |
6 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1454099487 CA353647309 |
7 | R>M | No |
ClinGen gnomAD |
|
|
CA353647311 rs1179713251 |
7 | R>W | No |
ClinGen gnomAD |
|
|
rs1009611851 CA80083887 |
8 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1216104891 CA353647300 |
9 | S>G | No |
ClinGen gnomAD |
|
|
CA353647290 rs1452634047 |
10 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA353647288 rs1452634047 |
10 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA80083884 rs938112157 |
12 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs938112157 CA353647280 |
12 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1353158854 CA353647272 |
13 | C>F | No |
ClinGen gnomAD |
|
|
CA10605053 RCV000295244 rs886043056 |
13 | C>G | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs905263348 CA353647263 |
14 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs905263348 CA80083883 |
14 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1576307255 CA353647257 |
15 | L>P | No |
ClinGen Ensembl |
|
|
rs941183666 CA353647251 |
16 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA80083881 rs941183666 |
16 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA353647246 rs1479176866 |
17 | A>G | No |
ClinGen TOPMed |
|
|
rs1190003814 CA353647242 |
18 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1300897977 CA353647243 |
18 | R>W | No |
ClinGen gnomAD |
|
|
rs908488631 CA80083880 |
19 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1317076004 CA353647232 |
20 | G>D | No |
ClinGen gnomAD |
|
|
rs1052071711 CA80083879 |
20 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs543360418 CA80083878 |
21 | C>Y | No |
ClinGen 1000Genomes gnomAD |
|
|
CA80083877 rs997366921 |
22 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1398435527 CA353647222 |
22 | G>R | No |
ClinGen gnomAD |
|
|
rs922267295 CA80083876 |
23 | G>R | No |
ClinGen TOPMed |
|
|
CA353647205 rs1158873654 |
25 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs900391289 CA353647200 |
26 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA353647199 rs900391289 |
26 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs900391289 CA80083875 RCV001058740 |
26 | A>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA353647187 rs1195836059 |
27 | W>C | No |
ClinGen gnomAD |
|
|
CA353647195 rs1385457463 |
27 | W>G | No |
ClinGen gnomAD |
|
| TCGA novel | 27 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353647180 rs121917871 |
29 | Q>E | No |
ClinGen TOPMed |
|
|
rs748129902 CA353647176 |
29 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1038986210 CA80083874 |
30 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA353647162 rs1576307171 RCV000796004 |
31 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2511760 rs779185544 |
35 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353647121 rs1210438633 |
38 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1576307146 CA353647108 |
40 | Q>R | No |
ClinGen Ensembl |
|
|
rs886058951 CA80083870 |
42 | S>I | No |
ClinGen TOPMed |
|
|
rs886058951 CA353647095 |
42 | S>N | No |
ClinGen TOPMed |
|
|
rs1345919590 CA353647083 |
44 | A>V | No |
ClinGen gnomAD |
|
|
CA353647072 rs1472149052 |
46 | R>H | No |
ClinGen gnomAD |
|
|
rs1164086395 CA353647060 |
48 | C>Y | No |
ClinGen TOPMed |
|
|
CA353647053 rs1370938707 |
49 | R>Q | No |
ClinGen TOPMed |
|
|
rs979632400 CA353647054 |
49 | R>W | No |
ClinGen TOPMed |
|
|
rs1345695139 CA353647042 |
51 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs929085114 CA353647037 |
52 | G>C | No |
ClinGen Ensembl |
|
|
rs1021084587 CA80083866 |
52 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA80083867 rs929085114 |
52 | G>R | No |
ClinGen Ensembl |
|
|
CA2511759 rs755245204 |
53 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1293069302 CA353647016 |
56 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA353646992 rs1354294983 |
59 | S>T | No |
ClinGen gnomAD |
|
|
rs780436492 CA2511757 |
60 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482999713 CA353646980 |
61 | G>E | No |
ClinGen TOPMed |
|
|
rs541089894 CA80083864 |
62 | L>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA80083862 rs905315847 |
64 | H>L | No |
ClinGen TOPMed |
|
|
CA353646961 rs1419499423 |
64 | H>Q | No |
ClinGen gnomAD |
|
|
rs777132237 CA80083861 |
65 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2511755 rs777132237 |
65 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA353646940 rs1397844472 |
68 | S>W | No |
ClinGen gnomAD |
|
|
rs1476634598 CA353646931 |
70 | G>S | No |
ClinGen gnomAD |
|
|
rs767862234 CA353646924 |
71 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767862234 CA2511754 |
71 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750999992 CA2511752 |
73 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1035403950 CA80083858 |
74 | V>G | No |
ClinGen Ensembl |
|
|
rs886944037 CA353646907 CA80083859 RCV001070508 |
74 | V>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1576306935 RCV000805779 |
76 | T>missing | No |
ClinVar dbSNP |
|
|
rs1338185156 CA353646896 |
76 | T>A | No |
ClinGen TOPMed |
|
|
rs1030428547 CA80083857 |
77 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
RCV001302506 rs1707520320 |
77 | G>R | No |
ClinVar dbSNP |
|
|
CA353646884 rs1319851561 |
78 | L>Q | No |
ClinGen gnomAD |
|
|
CA353646870 rs1231132707 |
80 | A>E | No |
ClinGen TOPMed |
|
|
rs1232117137 CA353646875 |
80 | A>T | No |
ClinGen gnomAD |
|
|
rs1422390072 CA353646867 |
81 | A>S | No |
ClinGen gnomAD |
|
|
CA2511749 rs775066459 |
83 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA353646843 rs1424913115 |
85 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2511747 rs759216181 |
85 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2511745 rs770754663 |
86 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2511746 rs776510183 |
86 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1451524849 CA353646832 |
87 | G>V | No |
ClinGen TOPMed |
|
|
rs1420384920 CA353646826 |
89 | A>T | No |
ClinGen gnomAD |
|
|
rs1182672472 CA353646819 |
90 | T>A | No |
ClinGen gnomAD |
|
|
CA353646815 rs1480397696 |
90 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs747032096 CA2511744 |
91 | A>T | No |
ClinGen ExAC |
|
|
CA80083855 RCV001339638 rs900358911 |
91 | A>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2511743 rs779120114 |
92 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2511742 rs768794946 |
94 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA353646789 rs192332456 |
95 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353646779 rs1413355249 |
97 | Q>K | No |
ClinGen TOPMed |
|
|
rs756381511 CA2511739 |
97 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746194537 CA2511738 |
99 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs781649061 CA2511737 |
99 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1449418723 CA353646763 |
100 | E>K | No |
ClinGen gnomAD |
|
|
CA353646754 rs1325822740 |
101 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2511735 rs752120352 |
102 | L>W | No |
ClinGen ExAC |
|
|
rs1559680700 CA353646739 |
103 | P>S | No |
ClinGen Ensembl |
|
|
rs764599133 CA2511734 |
105 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs757837520 CA2511733 |
106 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2511730 rs759285228 |
109 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs764824138 CA2511731 |
109 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs766252547 CA80083854 |
111 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs766252547 CA2511728 |
111 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA80083853 rs868580718 |
112 | S>L | No |
ClinGen Ensembl |
|
|
CA2511725 rs772162112 |
113 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA353646677 rs1216604246 |
115 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA353646667 rs376755317 |
116 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2511724 rs376755317 |
116 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs914070710 CA80083852 |
116 | P>S | No |
ClinGen TOPMed |
|
|
CA2511722 rs769874644 |
117 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1378121676 CA353646649 |
119 | E>K | No |
ClinGen gnomAD |
|
|
rs1451906768 CA353646636 |
120 | E>D | No |
ClinGen TOPMed |
|
|
CA2511719 rs757585567 |
121 | D>E | No |
ClinGen ExAC |
|
|
CA2511716 rs747379089 |
122 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1294238285 CA353646607 |
125 | H>P | No |
ClinGen gnomAD |
|
|
rs758930568 CA80083851 |
125 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2511713 rs752184094 |
126 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1002194025 CA353646601 |
126 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1002194025 CA80083850 |
126 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA353646600 rs1002194025 |
126 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs764845801 CA353646599 |
127 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764845801 CA2511712 |
127 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2511711 rs754571279 |
131 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1192719112 CA353646559 |
132 | A>P | No |
ClinGen gnomAD |
|
|
CA2511709 rs565776283 |
133 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353646552 rs565776283 |
133 | P>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353646553 rs1269334973 |
133 | P>T | No |
ClinGen gnomAD |
|
|
CA2511706 rs767539748 |
137 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA80083846 rs866952001 |
138 | L>P | No |
ClinGen Ensembl |
|
|
rs548849023 CA2511705 |
139 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA80083845 rs1047353718 |
140 | E>K | No |
ClinGen TOPMed |
|
|
CA80083844 rs998009502 |
145 | P>R | No |
ClinGen TOPMed |
|
|
rs1481197852 CA353646478 |
146 | G>D | No |
ClinGen gnomAD |
|
|
rs901117317 CA80083843 |
148 | M>L | No |
ClinGen TOPMed |
|
|
CA353646455 rs1381789103 |
149 | K>T | No |
ClinGen gnomAD |
|
|
CA353646450 rs1182734777 |
150 | T>A | No |
ClinGen TOPMed |
|
|
rs374329743 CA2511701 |
150 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771089841 CA2511700 |
152 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 157 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA80083842 rs111829053 |
159 | T>A | No |
ClinGen Ensembl |
|
|
rs1464335285 CA353646389 |
159 | T>S | No |
ClinGen gnomAD |
|
|
CA353646375 rs1559680449 |
161 | A>G | No |
ClinGen Ensembl |
|
|
rs1420871793 CA353646332 |
168 | A>S | No |
ClinGen gnomAD |
|
|
rs569340454 CA2511695 |
171 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754441774 CA2511694 |
171 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs753317043 CA2511693 |
172 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2511692 rs779704663 |
173 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA353646293 rs1457340562 |
175 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1306218669 CA353646288 |
175 | N>I | No |
ClinGen gnomAD |
|
|
CA2511690 rs750211472 |
175 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1576306465 CA353646285 |
176 | F>I | No |
ClinGen Ensembl |
|
|
rs1576306448 CA353646240 |
182 | E>G | No |
ClinGen Ensembl |
|
|
CA80083841 rs914831759 |
183 | R>K | No |
ClinGen Ensembl |
|
|
rs912963117 CA80083840 |
183 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs751457880 CA2511687 |
184 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353646224 rs1482015431 |
185 | E>K | No |
ClinGen TOPMed |
|
|
rs1559679320 CA353646182 |
190 | I>F | No |
ClinGen Ensembl |
|
|
CA353646166 rs1439571020 |
192 | C>R | No |
ClinGen gnomAD |
|
|
rs751343617 CA2511669 |
192 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs762851939 CA2511667 |
196 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353646139 rs1380006580 |
196 | D>N | No |
ClinGen TOPMed |
|
|
CA353646115 rs1165964219 |
199 | V>A | No |
ClinGen TOPMed |
|
|
CA2511666 rs753927678 |
200 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1457502750 CA353646086 |
203 | A>G | No |
ClinGen TOPMed |
|
|
rs1185422267 CA353646090 |
203 | A>T | No |
ClinGen gnomAD |
|
|
rs1311103958 CA353646081 |
204 | G>A | No |
ClinGen gnomAD |
|
|
CA353646084 rs1398979491 |
204 | G>R | No |
ClinGen TOPMed |
|
|
rs772309560 CA2511662 |
205 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762184805 CA2511661 |
206 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs774623952 CA2511660 |
210 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs749826763 CA2511659 |
211 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552752095 RCV000976525 CA2511657 |
211 | H>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA2511658 rs749826763 |
211 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417420757 CA353646021 |
214 | L>H | No |
ClinGen gnomAD |
|
| TCGA novel | 215 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146049447 CA2511656 |
215 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000913185 CA2511655 rs138479596 |
217 | E>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2511653 rs756992469 |
220 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2511652 rs746798334 |
221 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 221 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2511649 rs752636733 |
222 | M>I | No |
ClinGen ExAC TOPMed |
|
|
rs758356130 CA2511650 |
222 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 224 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353645948 rs1261049725 |
225 | R>K | No |
ClinGen gnomAD |
|
|
rs1085307507 CA353645940 RCV000489118 |
226 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs765176336 CA2511648 |
228 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA80083621 rs934761324 |
233 | D>G | No |
ClinGen TOPMed |
|
|
CA353645875 rs1189647898 |
234 | G>D | No |
ClinGen TOPMed |
|
|
CA353645869 rs1277064972 |
235 | K>R | No |
ClinGen gnomAD |
|
|
rs1342055632 CA353645859 |
236 | L>F | No |
ClinGen gnomAD |
|
|
CA2511629 rs748004210 RCV000803562 |
237 | P>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA353645855 rs1424237225 |
237 | P>S | No |
ClinGen TOPMed |
|
|
rs576756431 RCV000813041 CA2511626 |
239 | C>* | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA2511628 rs778771100 |
239 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs147537350 CA2511627 RCV000923062 |
239 | C>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2511625 rs767649799 |
241 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA2511623 rs751673143 |
243 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1424689527 CA353645802 |
245 | S>C | No |
ClinGen gnomAD |
|
|
rs1303233052 CA353645790 |
247 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 251 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2511620 rs776021149 |
252 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1366830074 CA353645755 |
252 | P>S | No |
ClinGen TOPMed |
|
|
rs1378997800 CA353645749 |
253 | H>R | No |
ClinGen gnomAD |
|
|
CA2511619 rs143353671 |
254 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2511618 rs145716622 |
254 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2511616 rs770409384 |
256 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs760249252 CA2511615 |
257 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs772676915 CA2511614 |
258 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA353645708 rs1227408883 RCV000817310 |
260 | N>H | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA2511613 rs771775229 |
262 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2511612 rs747912295 |
262 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA353645692 rs747912295 |
262 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA353645672 rs1373579504 |
265 | E>K | No |
ClinGen TOPMed |
|
|
RCV001315531 rs1707461124 |
266 | V>G | No |
ClinVar dbSNP |
|
|
CA353645663 rs1449181172 |
266 | V>I | No |
ClinGen gnomAD |
|
|
CA2511610 rs568275152 |
267 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1309602222 CA353645655 |
267 | E>G | No |
ClinGen TOPMed |
|
|
CA80083595 rs2031032 |
267 | E>K | No |
ClinGen Ensembl |
|
|
CA353645647 rs1352160915 |
268 | E>G | No |
ClinGen TOPMed |
|
|
rs1467581225 CA353645644 |
269 | A>T | No |
ClinGen gnomAD |
|
|
rs1239987827 CA353645639 |
269 | A>V | No |
ClinGen TOPMed |
|
|
rs1292623886 CA353645634 |
270 | D>A | No |
ClinGen TOPMed |
|
|
CA2511585 rs779295994 |
271 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1131857 CA353645608 |
272 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs542726479 CA2511583 |
273 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353645598 rs1299263891 |
273 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 274 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766771353 CA2511582 |
274 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2511581 rs761281919 |
276 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1131691289 CA353645562 RCV000493178 |
278 | G>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2511580 rs749892280 |
280 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs573797955 CA353645535 |
282 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2511579 rs573797955 |
282 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs936496857 CA80083398 |
289 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1199455936 CA353645471 |
291 | E>D | No |
ClinGen gnomAD |
|
|
rs1487786855 CA353645469 |
292 | D>N | No |
ClinGen gnomAD |
|
|
rs762827865 CA2511574 RCV000519313 |
293 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs140475004 CA2511573 RCV000805538 |
293 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs121917870 CA80083397 |
295 | H>Y | No |
ClinGen Ensembl |
|
|
rs1038446540 CA80083396 |
298 | R>I | No |
ClinGen gnomAD |
|
|
rs1038446540 CA353645428 |
298 | R>K | No |
ClinGen gnomAD |
|
|
rs1218065487 CA353645404 |
302 | E>Q | No |
ClinGen gnomAD |
|
|
CA2511571 rs773155019 |
303 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1367988529 CA353645374 |
306 | Q>* | No |
ClinGen gnomAD |
|
|
CA80083394 rs372047148 |
306 | Q>L | No |
ClinGen ESP TOPMed |
|
| rs1553696125 | 312 | Y>* | No | Ensembl | |
|
rs1553696121 RCV000478593 |
314 | K>missing | No |
ClinVar dbSNP |
|
|
CA80083393 rs1024614583 |
318 | W>* | No |
ClinGen TOPMed |
|
| TCGA novel | 318 | W>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 320 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1425917131 CA353645228 |
324 | F>L | No |
ClinGen gnomAD |
|
|
CA2511548 rs768991166 |
327 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs749579807 CA2511547 |
328 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA353645185 rs1729995 CA353645186 |
330 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756432783 CA2511545 |
331 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA353645179 rs781627991 |
332 | R>P | No |
ClinGen ExAC |
|
|
RCV000522440 CA2511543 rs781627991 |
332 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP |
|
rs1350444742 CA353645170 |
334 | I>V | No |
ClinGen Ensembl |
|
|
rs751038412 RCV000805197 CA2511541 |
337 | I>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2511540 rs763662517 |
338 | F>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 342 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1374535430 CA353645097 |
344 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA353645091 rs1332853378 |
345 | P>L | No |
ClinGen gnomAD |
|
|
rs1388547890 CA353645083 |
347 | K>E | No |
ClinGen TOPMed |
|
|
rs759340330 CA2511536 |
347 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs753601837 CA2511535 |
349 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1576300558 CA353645057 |
350 | V>G | No |
ClinGen Ensembl |
|
|
rs376372510 CA2511532 |
352 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA353645048 rs11921054 |
352 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353645044 rs1182708806 |
353 | F>I | No |
ClinGen gnomAD |
|
|
CA2511529 rs775739771 |
355 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs372637687 CA2511528 |
356 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2511526 rs781577964 |
357 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs771424371 CA2511525 |
358 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1239134864 CA353645008 |
358 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1239134864 CA353645007 |
358 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1239134864 CA353645009 |
358 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs929960337 CA80083040 |
360 | A>T | No |
ClinGen TOPMed |
|
|
CA2511524 rs747575435 |
361 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353644991 rs1436558846 |
361 | V>L | No |
ClinGen TOPMed |
|
|
rs1274461411 CA353644957 |
366 | I>T | No |
ClinGen Ensembl |
|
|
rs1365778226 CA353644929 |
371 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1298021587 CA353644919 |
372 | H>Y | No |
ClinGen gnomAD |
|
|
CA353644907 rs1382487213 |
373 | C>F | No |
ClinGen gnomAD |
|
|
rs1382487213 CA353644909 |
373 | C>Y | No |
ClinGen gnomAD |
|
|
CA2511519 rs754638898 |
376 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150235153 CA353644866 |
379 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150235153 CA2511517 |
379 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353644865 rs150235153 |
379 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2511515 rs201231166 |
380 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201231166 CA353644864 |
380 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763039639 CA2511513 |
380 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA353644855 rs1475190906 |
381 | E>G | No |
ClinGen TOPMed |
|
|
CA2511508 rs771228535 |
391 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
RCV001977574 rs375923779 CA2511509 |
391 | R>W | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs145903251 CA2511488 |
392 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2511489 rs773620265 |
392 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2511491 rs200520127 |
392 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs773620265 CA2511490 |
392 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs774931986 CA2511486 |
394 | E>Q | No |
ClinGen ExAC |
|
|
CA80082590 rs901308313 |
399 | Y>C | No |
ClinGen gnomAD |
|
|
CA80082589 rs769335043 |
401 | R>Q | No |
ClinGen Ensembl |
|
|
CA353644712 rs1339270733 |
401 | R>W | No |
ClinGen gnomAD |
|
|
CA2511482 rs779802548 |
402 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2511481 rs755879509 |
403 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA2511479 rs757205155 |
410 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1576297722 CA353644654 |
410 | P>L | No |
ClinGen Ensembl |
|
|
rs751396925 CA2511478 |
411 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA353644638 rs1235464718 |
413 | R>I | No |
ClinGen gnomAD |
|
|
CA353644616 rs1185371121 |
416 | S>N | No |
ClinGen gnomAD |
|
|
CA2511476 rs755013367 |
419 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2511474 rs766570395 |
425 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353644556 rs1256372382 |
425 | A>V | No |
ClinGen TOPMed |
|
|
CA80082586 rs202148820 |
426 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
CA353644529 rs1359592678 |
428 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA353644514 rs1156859141 |
430 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA353644513 rs1156859141 |
430 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2511448 rs143456081 RCV000981706 |
431 | H>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 435 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001339927 rs769371567 CA2511446 |
438 | K>E | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2511445 rs759092482 |
440 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 441 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318015563 CA353644406 |
445 | V>D | No |
ClinGen gnomAD |
|
|
rs952952191 CA80082531 |
446 | L>V | No |
ClinGen TOPMed |
|
|
rs200810233 CA2511442 |
447 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA80082530 rs374154452 |
448 | H>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2511441 rs771996976 |
449 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2511440 rs748017148 |
451 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA353644366 rs1159166983 |
452 | W>* | No |
ClinGen TOPMed |
|
|
rs778822539 CA2511439 |
454 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149718909 CA2511438 |
454 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA80082529 rs149718909 |
454 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750535971 CA2511437 |
455 | R>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 455 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
2 associated diseases with P36551
[MIM: 121300]: Hereditary coproporphyria (HCP)
A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Hereditary coproporphyria is an acute hepatic porphyria characterized by skin photosensitivity, attacks of abdominal pain, neurological disturbances, and psychiatric symptoms. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. Hereditary coproporphyria is biochemically characterized by overexcretion of coproporphyrin III in the urine and in the feces. {ECO:0000269|PubMed:12181641, ECO:0000269|PubMed:15896662, ECO:0000269|PubMed:16398658, ECO:0000269|PubMed:7849704, ECO:0000269|PubMed:8012360, ECO:0000269|PubMed:8990017, ECO:0000269|PubMed:9048920, ECO:0000269|PubMed:9298818, ECO:0000269|PubMed:9843038, ECO:0000269|PubMed:9888388}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 618892]: Harderoporphyria (HARPO)
An autosomal recessive form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. HARPO is a rare erythropoietic variant form characterized by neonatal hemolytic anemia, sometimes accompanied by skin lesions, and massive excretion of harderoporphyrin in feces. {ECO:0000269|PubMed:21103937, ECO:0000269|PubMed:7757079}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Hereditary coproporphyria is an acute hepatic porphyria characterized by skin photosensitivity, attacks of abdominal pain, neurological disturbances, and psychiatric symptoms. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. Hereditary coproporphyria is biochemically characterized by overexcretion of coproporphyrin III in the urine and in the feces. {ECO:0000269|PubMed:12181641, ECO:0000269|PubMed:15896662, ECO:0000269|PubMed:16398658, ECO:0000269|PubMed:7849704, ECO:0000269|PubMed:8012360, ECO:0000269|PubMed:8990017, ECO:0000269|PubMed:9048920, ECO:0000269|PubMed:9298818, ECO:0000269|PubMed:9843038, ECO:0000269|PubMed:9888388}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. HARPO is a rare erythropoietic variant form characterized by neonatal hemolytic anemia, sometimes accompanied by skin lesions, and massive excretion of harderoporphyrin in feces. {ECO:0000269|PubMed:21103937, ECO:0000269|PubMed:7757079}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for P36551
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Coproporphyrinogen III oxidase, conserved site | 316 - 340 | IPR018375 |
Functions
| Description | ||
|---|---|---|
| EC Number | 1.3.3.3 | With oxygen as acceptor |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| mitochondrial inner membrane | The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae. |
| mitochondrial intermembrane space | The region between the inner and outer lipid bilayers of the mitochondrial envelope. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| coproporphyrinogen oxidase activity | Catalysis of the reaction: coproporphyrinogen III + 2 H(+) + O(2) = 2 CO(2) + 2 H(2)O + protoporphyrinogen IX. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| structural constituent of eye lens | The action of a molecule that contributes to the structural integrity of the lens of an eye. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| heme biosynthetic process | The chemical reactions and pathways resulting in the formation of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring, from less complex precursors. |
| protoporphyrinogen IX biosynthetic process | The chemical reactions and pathways resulting in the formation of protoporphyrinogen IX. |
| response to arsenic-containing substance | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an arsenic stimulus from compounds containing arsenic, including arsenates, arsenites, and arsenides. |
| response to insecticide | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insecticide stimulus. Insecticides are chemicals used to kill insects. |
| response to iron ion | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an iron ion stimulus. |
| response to lead ion | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lead ion stimulus. |
| response to methylmercury | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a methylmercury stimulus. |
3 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9V3D2 | Coprox | Oxygen-dependent coproporphyrinogen-III oxidase | Drosophila melanogaster (Fruit fly) | PR |
| P36552 | Cpox | Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial | Mus musculus (Mouse) | PR |
| Q3B7D0 | Cpox | Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALQLGRLSS | GPCWLVARGG | CGGPRAWSQC | GGGGLRAWSQ | RSAAGRVCRP | PGPAGTEQSR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GLGHGSTSRG | GPWVGTGLAA | ALAGLVGLAT | AAFGHVQRAE | MLPKTSGTRA | TSLGRPEEEE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DELAHRCSSF | MAPPVTDLGE | LRRRPGDMKT | KMELLILETQ | AQVCQALAQV | DGGANFSVDR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| WERKEGGGGI | SCVLQDGCVF | EKAGVSISVV | HGNLSEEAAK | QMRSRGKVLK | TKDGKLPFCA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MGVSSVIHPK | NPHAPTIHFN | YRYFEVEEAD | GNKQWWFGGG | CDLTPTYLNQ | EDAVHFHRTL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KEACDQHGPD | LYPKFKKWCD | DYFFIAHRGE | RRGIGGIFFD | DLDSPSKEEV | FRFVQSCARA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VVPSYIPLVK | KHCDDSFTPQ | EKLWQQLRRG | RYVEFNLLYD | RGTKFGLFTP | GSRIESILMS |
| 430 | 440 | 450 | |||
| LPLTARWEYM | HSPSENSKEA | EILEVLRHPR | DWVR |