UniProtKB - P36551 (HEM6_HUMAN)
Protein
Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial
Gene
CPOX
Organism
Homo sapiens (Human)
Status
Functioni
Involved in the heme biosynthesis. Catalyzes the aerobic oxidative decarboxylation of propionate groups of rings A and B of coproporphyrinogen-III to yield the vinyl groups in protoporphyrinogen-IX.
Catalytic activityi
- EC:1.3.3.3
: protoporphyrin-IX biosynthesis Pathwayi
This protein is involved in step 1 of the subpathway that synthesizes protoporphyrinogen-IX from coproporphyrinogen-III (O2 route).Proteins known to be involved in this subpathway in this organism are:
- Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial (CPOX), Coproporphyrinogen oxidase
View all proteins of this organism that are known to be involved in the subpathway that synthesizes protoporphyrinogen-IX from coproporphyrinogen-III (O2 route), the pathway protoporphyrin-IX biosynthesis and in Porphyrin-containing compound metabolism.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 244 | SubstrateCurated | 1 | |
Active sitei | 258 | Proton donor1 Publication | 1 | |
Sitei | 327 | Important for dimerization | 1 |
GO - Molecular functioni
- coproporphyrinogen oxidase activity Source: GO_Central
- protein homodimerization activity Source: UniProtKB
- structural constituent of eye lens Source: Ensembl
GO - Biological processi
- heme biosynthetic process Source: Reactome
- protoporphyrinogen IX biosynthetic process Source: GO_Central
- response to arsenic-containing substance Source: Ensembl
- response to insecticide Source: Ensembl
- response to iron ion Source: Ensembl
- response to lead ion Source: Ensembl
- response to methylmercury Source: Ensembl
Keywordsi
Molecular function | Oxidoreductase |
Biological process | Heme biosynthesis, Porphyrin biosynthesis |
Enzyme and pathway databases
BioCyci | MetaCyc:HS01369-MONOMER |
BRENDAi | 1.3.3.3, 2681 |
PathwayCommonsi | P36551 |
Reactomei | R-HSA-189451, Heme biosynthesis |
UniPathwayi | UPA00251;UER00322 |
Names & Taxonomyi
Protein namesi | Recommended name: Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial (EC:1.3.3.3)Short name: COX Short name: Coprogen oxidase Short name: Coproporphyrinogenase |
Gene namesi | Name:CPOX Synonyms:CPO, CPX |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000080819.6 |
HGNCi | HGNC:2321, CPOX |
MIMi | 612732, gene |
neXtProti | NX_P36551 |
Subcellular locationi
Mitochondrion
Cytosol
- cytosol Source: HPA
Mitochondrion
- mitochondrial inner membrane Source: Ensembl
- mitochondrial intermembrane space Source: GO_Central
- mitochondrion Source: HPA
Other locations
- cytoplasm Source: GO_Central
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
Hereditary coproporphyria (HCP)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023444 | 135 | V → A in HCP. 1 PublicationCorresponds to variant dbSNP:rs201826432Ensembl. | 1 | |
Natural variantiVAR_002151 | 162 – 168 | Missing in HCP. 1 Publication | 7 | |
Natural variantiVAR_002152 | 189 | G → S in HCP; <5% of activity. 1 PublicationCorresponds to variant dbSNP:rs759347283Ensembl. | 1 | |
Natural variantiVAR_002153 | 197 | G → W in HCP. 1 Publication | 1 | |
Natural variantiVAR_002154 | 201 | E → K in HCP. 1 PublicationCorresponds to variant dbSNP:rs1374394802Ensembl. | 1 | |
Natural variantiVAR_019067 | 208 | S → F in HCP. 1 PublicationCorresponds to variant dbSNP:rs121917872EnsemblClinVar. | 1 | |
Natural variantiVAR_023445 | 214 | L → R in HCP. 1 Publication | 1 | |
Natural variantiVAR_023446 | 249 | P → R in HCP. 1 Publication | 1 | |
Natural variantiVAR_002155 | 249 | P → S in HCP. 1 Publication | 1 | |
Natural variantiVAR_058005 | 279 | G → R in HCP; a patient carrying also the L-12 mutation in ALAD. 1 PublicationCorresponds to variant dbSNP:rs121917874EnsemblClinVar. | 1 | |
Natural variantiVAR_002157 | 280 | G → R in HCP. 1 Publication | 1 | |
Natural variantiVAR_002159 | 295 | H → D in HCP. 1 PublicationCorresponds to variant dbSNP:rs121917870EnsemblClinVar. | 1 | |
Natural variantiVAR_019068 | 328 | R → C in HCP. 1 PublicationCorresponds to variant dbSNP:rs121917873EnsemblClinVar. | 1 | |
Natural variantiVAR_002160 | 331 | R → W in HCP. 2 PublicationsCorresponds to variant dbSNP:rs121917866EnsemblClinVar. | 1 | |
Natural variantiVAR_002161 | 390 | Missing in HCP. 1 Publication | 1 | |
Natural variantiVAR_002162 | 404 | K → E in HCP; harderoporphyria form. 1 PublicationCorresponds to variant dbSNP:rs121917868EnsemblClinVar. | 1 | |
Natural variantiVAR_002163 | 427 | W → R in HCP. 1 Publication | 1 | |
Natural variantiVAR_019069 | 447 | R → C in HCP. 1 PublicationCorresponds to variant dbSNP:rs28931603EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 392 – 418 | Missing : Loss for dimerization. 1 PublicationAdd BLAST | 27 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 1371 |
GeneReviewsi | CPOX |
MalaCardsi | CPOX |
MIMi | 121300, phenotype |
OpenTargetsi | ENSG00000080819 |
Orphaneti | 79273, Hereditary coproporphyria |
PharmGKBi | PA134979958 |
Miscellaneous databases
Pharosi | P36551, Tbio |
Chemistry databases
ChEMBLi | CHEMBL1681618 |
Polymorphism and mutation databases
BioMutai | CPOX |
DMDMi | 67476671 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 110 | MitochondrionBy similarityAdd BLAST | 110 | |
ChainiPRO_0000006029 | 111 – 454 | Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrialAdd BLAST | 344 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 112 | PhosphoserineBy similarity | 1 | |
Modified residuei | 404 | N6-acetyllysine; alternateBy similarity | 1 | |
Modified residuei | 404 | N6-succinyllysine; alternateBy similarity | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | P36551 |
jPOSTi | P36551 |
MassIVEi | P36551 |
MaxQBi | P36551 |
PaxDbi | P36551 |
PeptideAtlasi | P36551 |
PRIDEi | P36551 |
ProteomicsDBi | 55213 [P36551-1] |
PTM databases
iPTMneti | P36551 |
PhosphoSitePlusi | P36551 |
SwissPalmi | P36551 |
Expressioni
Gene expression databases
Bgeei | ENSG00000080819, Expressed in liver and 224 other tissues |
ExpressionAtlasi | P36551, baseline and differential |
Genevisiblei | P36551, HS |
Organism-specific databases
HPAi | ENSG00000080819, Tissue enhanced (brain) |
Interactioni
Subunit structurei
Homodimer.
1 PublicationGO - Molecular functioni
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 107763, 33 interactors |
IntActi | P36551, 24 interactors |
MINTi | P36551 |
STRINGi | 9606.ENSP00000264193 |
Miscellaneous databases
RNActi | P36551, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P36551 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P36551 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 193 – 202 | Important for dimerizationCurated | 10 | |
Regioni | 260 – 262 | Substrate binding | 3 | |
Regioni | 392 – 428 | Important for dimerizationAdd BLAST | 37 | |
Regioni | 411 – 413 | Substrate binding | 3 |
Sequence similaritiesi
Belongs to the aerobic coproporphyrinogen-III oxidase family.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG1518, Eukaryota |
GeneTreei | ENSGT00390000017311 |
HOGENOMi | CLU_026169_1_0_1 |
InParanoidi | P36551 |
OMAi | HVQRAEM |
OrthoDBi | 1080991at2759 |
PhylomeDBi | P36551 |
TreeFami | TF300703 |
Family and domain databases
Gene3Di | 3.40.1500.10, 1 hit |
InterProi | View protein in InterPro IPR001260, Coprogen_oxidase_aer IPR036406, Coprogen_oxidase_aer_sf IPR018375, Coprogen_oxidase_CS |
PANTHERi | PTHR10755, PTHR10755, 1 hit |
Pfami | View protein in Pfam PF01218, Coprogen_oxidas, 1 hit |
PRINTSi | PR00073, COPRGNOXDASE |
SUPFAMi | SSF102886, SSF102886, 1 hit |
PROSITEi | View protein in PROSITE PS01021, COPROGEN_OXIDASE, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: P36551-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MALQLGRLSS GPCWLVARGG CGGPRAWSQC GGGGLRAWSQ RSAAGRVCRP
60 70 80 90 100
PGPAGTEQSR GLGHGSTSRG GPWVGTGLAA ALAGLVGLAT AAFGHVQRAE
110 120 130 140 150
MLPKTSGTRA TSLGRPEEEE DELAHRCSSF MAPPVTDLGE LRRRPGDMKT
160 170 180 190 200
KMELLILETQ AQVCQALAQV DGGANFSVDR WERKEGGGGI SCVLQDGCVF
210 220 230 240 250
EKAGVSISVV HGNLSEEAAK QMRSRGKVLK TKDGKLPFCA MGVSSVIHPK
260 270 280 290 300
NPHAPTIHFN YRYFEVEEAD GNKQWWFGGG CDLTPTYLNQ EDAVHFHRTL
310 320 330 340 350
KEACDQHGPD LYPKFKKWCD DYFFIAHRGE RRGIGGIFFD DLDSPSKEEV
360 370 380 390 400
FRFVQSCARA VVPSYIPLVK KHCDDSFTPQ EKLWQQLRRG RYVEFNLLYD
410 420 430 440 450
RGTKFGLFTP GSRIESILMS LPLTARWEYM HSPSENSKEA EILEVLRHPR
DWVR
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketD6RER6 | D6RER6_HUMAN | Oxygen-dependent coproporphyrinogen... | CPOX | 175 | Annotation score: |
Sequence cautioni
The sequence BAA04033 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 247 | I → T in CAA82250 (PubMed:8159699).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023444 | 135 | V → A in HCP. 1 PublicationCorresponds to variant dbSNP:rs201826432Ensembl. | 1 | |
Natural variantiVAR_002151 | 162 – 168 | Missing in HCP. 1 Publication | 7 | |
Natural variantiVAR_002152 | 189 | G → S in HCP; <5% of activity. 1 PublicationCorresponds to variant dbSNP:rs759347283Ensembl. | 1 | |
Natural variantiVAR_002153 | 197 | G → W in HCP. 1 Publication | 1 | |
Natural variantiVAR_002154 | 201 | E → K in HCP. 1 PublicationCorresponds to variant dbSNP:rs1374394802Ensembl. | 1 | |
Natural variantiVAR_019067 | 208 | S → F in HCP. 1 PublicationCorresponds to variant dbSNP:rs121917872EnsemblClinVar. | 1 | |
Natural variantiVAR_023445 | 214 | L → R in HCP. 1 Publication | 1 | |
Natural variantiVAR_023446 | 249 | P → R in HCP. 1 Publication | 1 | |
Natural variantiVAR_002155 | 249 | P → S in HCP. 1 Publication | 1 | |
Natural variantiVAR_002156 | 272 | N → H2 PublicationsCorresponds to variant dbSNP:rs1131857EnsemblClinVar. | 1 | |
Natural variantiVAR_058005 | 279 | G → R in HCP; a patient carrying also the L-12 mutation in ALAD. 1 PublicationCorresponds to variant dbSNP:rs121917874EnsemblClinVar. | 1 | |
Natural variantiVAR_002157 | 280 | G → R in HCP. 1 Publication | 1 | |
Natural variantiVAR_002158 | 294 | V → I3 PublicationsCorresponds to variant dbSNP:rs2228056EnsemblClinVar. | 1 | |
Natural variantiVAR_002159 | 295 | H → D in HCP. 1 PublicationCorresponds to variant dbSNP:rs121917870EnsemblClinVar. | 1 | |
Natural variantiVAR_019068 | 328 | R → C in HCP. 1 PublicationCorresponds to variant dbSNP:rs121917873EnsemblClinVar. | 1 | |
Natural variantiVAR_002160 | 331 | R → W in HCP. 2 PublicationsCorresponds to variant dbSNP:rs121917866EnsemblClinVar. | 1 | |
Natural variantiVAR_048827 | 352 | R → C. Corresponds to variant dbSNP:rs11921054EnsemblClinVar. | 1 | |
Natural variantiVAR_002161 | 390 | Missing in HCP. 1 Publication | 1 | |
Natural variantiVAR_002162 | 404 | K → E in HCP; harderoporphyria form. 1 PublicationCorresponds to variant dbSNP:rs121917868EnsemblClinVar. | 1 | |
Natural variantiVAR_002163 | 427 | W → R in HCP. 1 Publication | 1 | |
Natural variantiVAR_019069 | 447 | R → C in HCP. 1 PublicationCorresponds to variant dbSNP:rs28931603EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_057182 | 272 – 287 | NKQWW…LTPTY → KGLRSYGKYCRAKCAF in isoform 2. 1 PublicationAdd BLAST | 16 | |
Alternative sequenceiVSP_057183 | 288 – 454 | Missing in isoform 2. 1 PublicationAdd BLAST | 167 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Z34531 , Z34803, Z34804, Z34805, Z34806, Z34807, Z34808 Genomic DNA Translation: CAA84292.1 AK290140 mRNA Translation: BAF82829.1 AK299692 mRNA Translation: BAG61597.1 AK223481 mRNA Translation: BAD97201.1 CH471052 Genomic DNA Translation: EAW79854.1 BC017210 mRNA Translation: AAH17210.1 BC023551 mRNA Translation: AAH23551.1 BC023554 mRNA Translation: AAH23554.1 D16611 mRNA Translation: BAA04033.1 Different initiation. Z28409 mRNA Translation: CAA82250.1 |
CCDSi | CCDS2932.1 [P36551-1] |
PIRi | I52444 |
RefSeqi | NP_000088.3, NM_000097.5 [P36551-1] |
Genome annotation databases
Ensembli | ENST00000647941; ENSP00000497326; ENSG00000080819 [P36551-1] |
GeneIDi | 1371 |
KEGGi | hsa:1371 |
UCSCi | uc003dsx.4, human [P36551-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Z34531 , Z34803, Z34804, Z34805, Z34806, Z34807, Z34808 Genomic DNA Translation: CAA84292.1 AK290140 mRNA Translation: BAF82829.1 AK299692 mRNA Translation: BAG61597.1 AK223481 mRNA Translation: BAD97201.1 CH471052 Genomic DNA Translation: EAW79854.1 BC017210 mRNA Translation: AAH17210.1 BC023551 mRNA Translation: AAH23551.1 BC023554 mRNA Translation: AAH23554.1 D16611 mRNA Translation: BAA04033.1 Different initiation. Z28409 mRNA Translation: CAA82250.1 |
CCDSi | CCDS2932.1 [P36551-1] |
PIRi | I52444 |
RefSeqi | NP_000088.3, NM_000097.5 [P36551-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
2AEX | X-ray | 1.58 | A | 111-454 | [»] | |
SMRi | P36551 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 107763, 33 interactors |
IntActi | P36551, 24 interactors |
MINTi | P36551 |
STRINGi | 9606.ENSP00000264193 |
Chemistry databases
ChEMBLi | CHEMBL1681618 |
PTM databases
iPTMneti | P36551 |
PhosphoSitePlusi | P36551 |
SwissPalmi | P36551 |
Polymorphism and mutation databases
BioMutai | CPOX |
DMDMi | 67476671 |
Proteomic databases
EPDi | P36551 |
jPOSTi | P36551 |
MassIVEi | P36551 |
MaxQBi | P36551 |
PaxDbi | P36551 |
PeptideAtlasi | P36551 |
PRIDEi | P36551 |
ProteomicsDBi | 55213 [P36551-1] |
Protocols and materials databases
Antibodypediai | 2788, 156 antibodies |
Genome annotation databases
Ensembli | ENST00000647941; ENSP00000497326; ENSG00000080819 [P36551-1] |
GeneIDi | 1371 |
KEGGi | hsa:1371 |
UCSCi | uc003dsx.4, human [P36551-1] |
Organism-specific databases
CTDi | 1371 |
DisGeNETi | 1371 |
EuPathDBi | HostDB:ENSG00000080819.6 |
GeneCardsi | CPOX |
GeneReviewsi | CPOX |
HGNCi | HGNC:2321, CPOX |
HPAi | ENSG00000080819, Tissue enhanced (brain) |
MalaCardsi | CPOX |
MIMi | 121300, phenotype 612732, gene |
neXtProti | NX_P36551 |
OpenTargetsi | ENSG00000080819 |
Orphaneti | 79273, Hereditary coproporphyria |
PharmGKBi | PA134979958 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1518, Eukaryota |
GeneTreei | ENSGT00390000017311 |
HOGENOMi | CLU_026169_1_0_1 |
InParanoidi | P36551 |
OMAi | HVQRAEM |
OrthoDBi | 1080991at2759 |
PhylomeDBi | P36551 |
TreeFami | TF300703 |
Enzyme and pathway databases
UniPathwayi | UPA00251;UER00322 |
BioCyci | MetaCyc:HS01369-MONOMER |
BRENDAi | 1.3.3.3, 2681 |
PathwayCommonsi | P36551 |
Reactomei | R-HSA-189451, Heme biosynthesis |
Miscellaneous databases
BioGRID-ORCSi | 1371, 191 hits in 853 CRISPR screens |
ChiTaRSi | CPOX, human |
EvolutionaryTracei | P36551 |
GeneWikii | Coproporphyrinogen_III_oxidase |
GenomeRNAii | 1371 |
Pharosi | P36551, Tbio |
PROi | PR:P36551 |
RNActi | P36551, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000080819, Expressed in liver and 224 other tissues |
ExpressionAtlasi | P36551, baseline and differential |
Genevisiblei | P36551, HS |
Family and domain databases
Gene3Di | 3.40.1500.10, 1 hit |
InterProi | View protein in InterPro IPR001260, Coprogen_oxidase_aer IPR036406, Coprogen_oxidase_aer_sf IPR018375, Coprogen_oxidase_CS |
PANTHERi | PTHR10755, PTHR10755, 1 hit |
Pfami | View protein in Pfam PF01218, Coprogen_oxidas, 1 hit |
PRINTSi | PR00073, COPRGNOXDASE |
SUPFAMi | SSF102886, SSF102886, 1 hit |
PROSITEi | View protein in PROSITE PS01021, COPROGEN_OXIDASE, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | HEM6_HUMAN | |
Accessioni | P36551Primary (citable) accession number: P36551 Secondary accession number(s): A8K275 Q96AF3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | June 1, 1994 |
Last sequence update: | June 7, 2005 | |
Last modified: | December 2, 2020 | |
This is version 204 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations