UniProtKB - Q9H2U2 (IPYR2_HUMAN)
Protein
Inorganic pyrophosphatase 2, mitochondrial
Gene
PPA2
Organism
Homo sapiens (Human)
Status
Functioni
Hydrolyzes inorganic pyrophosphate (PubMed:27523597). This activity is essential for correct regulation of mitochondrial membrane potential, and mitochondrial organization and function (PubMed:27523598).2 Publications
Catalytic activityi
- EC:3.6.1.1
Cofactori
Mg2+By similarity
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 164 | Magnesium 1By similarity | 1 | |
Metal bindingi | 169 | Magnesium 1By similarity | 1 | |
Metal bindingi | 169 | Magnesium 2By similarity | 1 | |
Metal bindingi | 201 | Magnesium 1By similarity | 1 |
GO - Molecular functioni
- inorganic diphosphatase activity Source: UniProtKB
- magnesium ion binding Source: GO_Central
- protein serine/threonine phosphatase activity Source: Ensembl
GO - Biological processi
- diphosphate metabolic process Source: Reactome
- phosphate-containing compound metabolic process Source: GO_Central
- regulation of mitochondrial membrane potential Source: UniProtKB
- tRNA aminoacylation for protein translation Source: Reactome
Keywordsi
Molecular function | Hydrolase |
Ligand | Magnesium, Metal-binding |
Enzyme and pathway databases
BRENDAi | 3.6.1.1, 2681 |
PathwayCommonsi | Q9H2U2 |
Reactomei | R-HSA-379726, Mitochondrial tRNA aminoacylation R-HSA-71737, Pyrophosphate hydrolysis |
Names & Taxonomyi
Protein namesi | Recommended name: Inorganic pyrophosphatase 2, mitochondrial (EC:3.6.1.1)Alternative name(s): Pyrophosphatase SID6-306 Pyrophosphate phospho-hydrolase 2 Short name: PPase 2 |
Gene namesi | Name:PPA2 ORF Names:HSPC124 |
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:ENSG00000138777.19 |
HGNCi | HGNC:28883, PPA2 |
MIMi | 609988, gene |
neXtProti | NX_Q9H2U2 |
Subcellular locationi
Mitochondrion
- Mitochondrion Curated
Cytosol
- cytosol Source: GO_Central
Mitochondrion
- mitochondrial matrix Source: Reactome
Keywords - Cellular componenti
MitochondrionPathology & Biotechi
Involvement in diseasei
Sudden cardiac failure, alcohol-induced (SCFAI)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disease characterized by sudden death due to unexpected cardiac arrest following ingestion of small amounts of alcohol.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077871 | 172 | E → K in SCFI and SCFAI; loss of function in regulation of mitochondrial membrane potential; decreased pyroposphatase activity. 2 PublicationsCorresponds to variant dbSNP:rs146013446EnsemblClinVar. | 1 | |
Natural variantiVAR_077872 | 228 | P → L in SCFAI; decreased pyroposphatase activity. 1 PublicationCorresponds to variant dbSNP:rs138215926EnsemblClinVar. | 1 |
Sudden cardiac failure, infantile (SCFI)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease characterized by sudden death within the first 2 years of life due to unexpected cardiac arrest. Some patients manifest hypertrophic cardiomyopathy, lipid accumulation in myocardium, degeneration of mitochondrial cristae, metabolic acidosis, and elevated plasma lactate levels. SCFI transmission pattern is consistent with autosomal recessive inheritance.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077866 | 61 | S → P in SCFI; loss of function in regulation of mitochondrial membrane potential. 1 Publication | 1 | |
Natural variantiVAR_077867 | 94 | M → V in SCFI. 1 PublicationCorresponds to variant dbSNP:rs1057517679EnsemblClinVar. | 1 | |
Natural variantiVAR_077868 | 106 | M → I in SCFI. 1 PublicationCorresponds to variant dbSNP:rs1057517680EnsemblClinVar. | 1 | |
Natural variantiVAR_077869 | 127 | R → L in SCFI. 1 PublicationCorresponds to variant dbSNP:rs139076647EnsemblClinVar. | 1 | |
Natural variantiVAR_077870 | 167 | P → L in SCFI; decreased pyroposphatase activity. 1 PublicationCorresponds to variant dbSNP:rs546693824EnsemblClinVar. | 1 | |
Natural variantiVAR_077871 | 172 | E → K in SCFI and SCFAI; loss of function in regulation of mitochondrial membrane potential; decreased pyroposphatase activity. 2 PublicationsCorresponds to variant dbSNP:rs146013446EnsemblClinVar. | 1 | |
Natural variantiVAR_077873 | 294 | Q → P in SCFI. 1 PublicationCorresponds to variant dbSNP:rs1057517678EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 27068 |
MalaCardsi | PPA2 |
MIMi | 617222, phenotype 617223, phenotype |
OpenTargetsi | ENSG00000138777 |
PharmGKBi | PA142671159 |
Miscellaneous databases
Pharosi | Q9H2U2, Tbio |
Polymorphism and mutation databases
BioMutai | PPA2 |
DMDMi | 116242592 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transit peptidei | 1 – 32 | MitochondrionCombined sources1 PublicationAdd BLAST | 32 | |
ChainiPRO_0000025411 | 33 – 334 | Inorganic pyrophosphatase 2, mitochondrialAdd BLAST | 302 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 216 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 224 | N6-acetyllysineBy similarity | 1 | |
Modified residuei | 259 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 261 | N6-acetyllysineCombined sources | 1 | |
Modified residuei | 317 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | Q9H2U2 |
jPOSTi | Q9H2U2 |
MassIVEi | Q9H2U2 |
MaxQBi | Q9H2U2 |
PaxDbi | Q9H2U2 |
PeptideAtlasi | Q9H2U2 |
PRIDEi | Q9H2U2 |
ProteomicsDBi | 31561 80594 [Q9H2U2-1] 80595 [Q9H2U2-2] 80596 [Q9H2U2-3] 80597 [Q9H2U2-4] |
2D gel databases
OGPi | Q9H2U2 |
PTM databases
iPTMneti | Q9H2U2 |
PhosphoSitePlusi | Q9H2U2 |
SwissPalmi | Q9H2U2 |
Expressioni
Tissue specificityi
Detected in brain, gastric carcinoma, lung, ovary, skeletal muscle, umbilical cord blood and a cell line derived from kidney proximal tubule epithelium.1 Publication
Gene expression databases
Bgeei | ENSG00000138777, Expressed in calcaneal tendon and 237 other tissues |
ExpressionAtlasi | Q9H2U2, baseline and differential |
Genevisiblei | Q9H2U2, HS |
Organism-specific databases
HPAi | ENSG00000138777, Low tissue specificity |
Interactioni
Subunit structurei
Homodimer.
By similarityProtein-protein interaction databases
BioGRIDi | 117979, 74 interactors |
IntActi | Q9H2U2, 24 interactors |
STRINGi | 9606.ENSP00000343885 |
Miscellaneous databases
RNActi | Q9H2U2, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the PPase family.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG1626, Eukaryota |
GeneTreei | ENSGT00390000017004 |
HOGENOMi | CLU_1763017_0_0_1 |
InParanoidi | Q9H2U2 |
OMAi | WTQAKCE |
OrthoDBi | 1398991at2759 |
PhylomeDBi | Q9H2U2 |
TreeFami | TF300887 |
Family and domain databases
CDDi | cd00412, pyrophosphatase, 1 hit |
Gene3Di | 3.90.80.10, 1 hit |
InterProi | View protein in InterPro IPR008162, Pyrophosphatase IPR036649, Pyrophosphatase_sf |
PANTHERi | PTHR10286, PTHR10286, 1 hit |
Pfami | View protein in Pfam PF00719, Pyrophosphatase, 1 hit |
SUPFAMi | SSF50324, SSF50324, 1 hit |
PROSITEi | View protein in PROSITE PS00387, PPASE, 1 hit |
s (5+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 5 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 5 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q9H2U2-1) [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
MSALLRLLRT GAPAAACLRL GTSAGTGSRR AMALYHTEER GQPCSQNYRL
60 70 80 90 100
FFKNVTGHYI SPFHDIPLKV NSKEENGIPM KKARNDEYEN LFNMIVEIPR
110 120 130 140 150
WTNAKMEIAT KEPMNPIKQY VKDGKLRYVA NIFPYKGYIW NYGTLPQTWE
160 170 180 190 200
DPHEKDKSTN CFGDNDPIDV CEIGSKILSC GEVIHVKILG ILALIDEGET
210 220 230 240 250
DWKLIAINAN DPEASKFHDI DDVKKFKPGY LEATLNWFRL YKVPDGKPEN
260 270 280 290 300
QFAFNGEFKN KAFALEVIKS THQCWKALLM KKCNGGAINC TNVQISDSPF
310 320 330
RCTQEEARSL VESVSSSPNK ESNEEEQVWH FLGK
Isoform 2 (identifier: Q9H2U2-2) [UniParc]FASTAAdd to basket
The sequence of this isoform differs from the canonical sequence as follows:
74-74: E → EDTEAQGIFIDLSKIW
Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »Computationally mapped potential isoform sequencesi
There are 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketD6RGV9 | D6RGV9_HUMAN | Inorganic diphosphatase | PPA2 | 195 | Annotation score: | ||
D6R967 | D6R967_HUMAN | Inorganic diphosphatase | PPA2 | 191 | Annotation score: | ||
H0Y9D8 | H0Y9D8_HUMAN | Inorganic diphosphatase | PPA2 | 226 | Annotation score: | ||
H0YAK2 | H0YAK2_HUMAN | Inorganic diphosphatase | PPA2 | 69 | Annotation score: | ||
D6RGI1 | D6RGI1_HUMAN | Inorganic diphosphatase | PPA2 | 88 | Annotation score: | ||
D6RAD3 | D6RAD3_HUMAN | Inorganic diphosphatase | PPA2 | 113 | Annotation score: | ||
A0A0C4DGB9 | A0A0C4DGB9_HUMAN | Inorganic diphosphatase | PPA2 | 63 | Annotation score: | ||
F8W7R6 | F8W7R6_HUMAN | Inorganic pyrophosphatase 2, mitoch... | PPA2 | 55 | Annotation score: | ||
H0Y8X2 | H0Y8X2_HUMAN | Inorganic pyrophosphatase 2, mitoch... | PPA2 | 42 | Annotation score: |
Sequence cautioni
The sequence AAF29088 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAA84701 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAA91184 differs from that shown. Reason: Erroneous termination. Truncated C-terminus.Curated
The sequence CAB66590 differs from that shown. Reason: Frameshift.Curated
The sequence CAB66590 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 11 | G → V in BAA84701 (Ref. 1) Curated | 1 | |
Sequence conflicti | 11 | G → V in AAG36781 (Ref. 2) Curated | 1 | |
Sequence conflicti | 19 | R → G in CAB66590 (PubMed:11230166).Curated | 1 | |
Sequence conflicti | 103 | N → K in CAB66590 (PubMed:11230166).Curated | 1 | |
Sequence conflicti | 241 | Y → C in CAB66590 (PubMed:11230166).Curated | 1 | |
Sequence conflicti | 288 | I → T in CAB66590 (PubMed:11230166).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_077866 | 61 | S → P in SCFI; loss of function in regulation of mitochondrial membrane potential. 1 Publication | 1 | |
Natural variantiVAR_077867 | 94 | M → V in SCFI. 1 PublicationCorresponds to variant dbSNP:rs1057517679EnsemblClinVar. | 1 | |
Natural variantiVAR_077868 | 106 | M → I in SCFI. 1 PublicationCorresponds to variant dbSNP:rs1057517680EnsemblClinVar. | 1 | |
Natural variantiVAR_077869 | 127 | R → L in SCFI. 1 PublicationCorresponds to variant dbSNP:rs139076647EnsemblClinVar. | 1 | |
Natural variantiVAR_077870 | 167 | P → L in SCFI; decreased pyroposphatase activity. 1 PublicationCorresponds to variant dbSNP:rs546693824EnsemblClinVar. | 1 | |
Natural variantiVAR_077871 | 172 | E → K in SCFI and SCFAI; loss of function in regulation of mitochondrial membrane potential; decreased pyroposphatase activity. 2 PublicationsCorresponds to variant dbSNP:rs146013446EnsemblClinVar. | 1 | |
Natural variantiVAR_077872 | 228 | P → L in SCFAI; decreased pyroposphatase activity. 1 PublicationCorresponds to variant dbSNP:rs138215926EnsemblClinVar. | 1 | |
Natural variantiVAR_019723 | 282 | K → N3 PublicationsCorresponds to variant dbSNP:rs13787Ensembl. | 1 | |
Natural variantiVAR_077873 | 294 | Q → P in SCFI. 1 PublicationCorresponds to variant dbSNP:rs1057517678EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_011649 | 53 | K → N in isoform 4. 1 Publication | 1 | |
Alternative sequenceiVSP_011650 | 54 – 219 | Missing in isoform 4. 1 PublicationAdd BLAST | 166 | |
Alternative sequenceiVSP_011651 | 74 | E → EDTEAQGIFIDLSKIW in isoform 2. 2 Publications | 1 | |
Alternative sequenceiVSP_046256 | 75 – 176 | Missing in isoform 5. 1 PublicationAdd BLAST | 102 | |
Alternative sequenceiVSP_011652 | 148 – 176 | Missing in isoform 3. 2 PublicationsAdd BLAST | 29 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB026722 mRNA Translation: BAA84701.1 Different initiation. AF217187 mRNA Translation: AAG36781.1 AK000466 mRNA Translation: BAA91184.1 Sequence problems. AK297096 mRNA Translation: BAG59609.1 Sequence problems. AC004066 Genomic DNA No translation available. AC106888 Genomic DNA Translation: AAY41040.1 BC022803 mRNA Translation: AAH22803.1 BC039462 mRNA Translation: AAH39462.2 BC057219 mRNA Translation: AAH57219.1 AF161473 mRNA Translation: AAF29088.1 Sequence problems. AL136655 mRNA Translation: CAB66590.2 Sequence problems. |
CCDSi | CCDS34043.1 [Q9H2U2-4] CCDS3667.1 [Q9H2U2-1] CCDS3668.2 [Q9H2U2-3] CCDS3669.2 [Q9H2U2-6] |
RefSeqi | NP_008834.3, NM_006903.4 [Q9H2U2-3] NP_789842.2, NM_176866.2 [Q9H2U2-6] NP_789843.2, NM_176867.3 [Q9H2U2-4] NP_789845.1, NM_176869.2 [Q9H2U2-1] |
Genome annotation databases
Ensembli | ENST00000341695; ENSP00000343885; ENSG00000138777 [Q9H2U2-1] ENST00000348706; ENSP00000313061; ENSG00000138777 [Q9H2U2-3] ENST00000354147; ENSP00000340352; ENSG00000138777 [Q9H2U2-4] ENST00000432483; ENSP00000389957; ENSG00000138777 [Q9H2U2-6] |
GeneIDi | 27068 |
KEGGi | hsa:27068 |
UCSCi | uc003hxl.4, human [Q9H2U2-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB026722 mRNA Translation: BAA84701.1 Different initiation. AF217187 mRNA Translation: AAG36781.1 AK000466 mRNA Translation: BAA91184.1 Sequence problems. AK297096 mRNA Translation: BAG59609.1 Sequence problems. AC004066 Genomic DNA No translation available. AC106888 Genomic DNA Translation: AAY41040.1 BC022803 mRNA Translation: AAH22803.1 BC039462 mRNA Translation: AAH39462.2 BC057219 mRNA Translation: AAH57219.1 AF161473 mRNA Translation: AAF29088.1 Sequence problems. AL136655 mRNA Translation: CAB66590.2 Sequence problems. |
CCDSi | CCDS34043.1 [Q9H2U2-4] CCDS3667.1 [Q9H2U2-1] CCDS3668.2 [Q9H2U2-3] CCDS3669.2 [Q9H2U2-6] |
RefSeqi | NP_008834.3, NM_006903.4 [Q9H2U2-3] NP_789842.2, NM_176866.2 [Q9H2U2-6] NP_789843.2, NM_176867.3 [Q9H2U2-4] NP_789845.1, NM_176869.2 [Q9H2U2-1] |
3D structure databases
SMRi | Q9H2U2 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 117979, 74 interactors |
IntActi | Q9H2U2, 24 interactors |
STRINGi | 9606.ENSP00000343885 |
PTM databases
iPTMneti | Q9H2U2 |
PhosphoSitePlusi | Q9H2U2 |
SwissPalmi | Q9H2U2 |
Polymorphism and mutation databases
BioMutai | PPA2 |
DMDMi | 116242592 |
2D gel databases
OGPi | Q9H2U2 |
Proteomic databases
EPDi | Q9H2U2 |
jPOSTi | Q9H2U2 |
MassIVEi | Q9H2U2 |
MaxQBi | Q9H2U2 |
PaxDbi | Q9H2U2 |
PeptideAtlasi | Q9H2U2 |
PRIDEi | Q9H2U2 |
ProteomicsDBi | 31561 80594 [Q9H2U2-1] 80595 [Q9H2U2-2] 80596 [Q9H2U2-3] 80597 [Q9H2U2-4] |
Protocols and materials databases
Antibodypediai | 26143, 107 antibodies |
DNASUi | 27068 |
Genome annotation databases
Ensembli | ENST00000341695; ENSP00000343885; ENSG00000138777 [Q9H2U2-1] ENST00000348706; ENSP00000313061; ENSG00000138777 [Q9H2U2-3] ENST00000354147; ENSP00000340352; ENSG00000138777 [Q9H2U2-4] ENST00000432483; ENSP00000389957; ENSG00000138777 [Q9H2U2-6] |
GeneIDi | 27068 |
KEGGi | hsa:27068 |
UCSCi | uc003hxl.4, human [Q9H2U2-1] |
Organism-specific databases
CTDi | 27068 |
DisGeNETi | 27068 |
EuPathDBi | HostDB:ENSG00000138777.19 |
GeneCardsi | PPA2 |
HGNCi | HGNC:28883, PPA2 |
HPAi | ENSG00000138777, Low tissue specificity |
MalaCardsi | PPA2 |
MIMi | 609988, gene 617222, phenotype 617223, phenotype |
neXtProti | NX_Q9H2U2 |
OpenTargetsi | ENSG00000138777 |
PharmGKBi | PA142671159 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1626, Eukaryota |
GeneTreei | ENSGT00390000017004 |
HOGENOMi | CLU_1763017_0_0_1 |
InParanoidi | Q9H2U2 |
OMAi | WTQAKCE |
OrthoDBi | 1398991at2759 |
PhylomeDBi | Q9H2U2 |
TreeFami | TF300887 |
Enzyme and pathway databases
BRENDAi | 3.6.1.1, 2681 |
PathwayCommonsi | Q9H2U2 |
Reactomei | R-HSA-379726, Mitochondrial tRNA aminoacylation R-HSA-71737, Pyrophosphate hydrolysis |
Miscellaneous databases
BioGRID-ORCSi | 27068, 272 hits in 849 CRISPR screens |
ChiTaRSi | PPA2, human |
GenomeRNAii | 27068 |
Pharosi | Q9H2U2, Tbio |
PROi | PR:Q9H2U2 |
RNActi | Q9H2U2, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000138777, Expressed in calcaneal tendon and 237 other tissues |
ExpressionAtlasi | Q9H2U2, baseline and differential |
Genevisiblei | Q9H2U2, HS |
Family and domain databases
CDDi | cd00412, pyrophosphatase, 1 hit |
Gene3Di | 3.90.80.10, 1 hit |
InterProi | View protein in InterPro IPR008162, Pyrophosphatase IPR036649, Pyrophosphatase_sf |
PANTHERi | PTHR10286, PTHR10286, 1 hit |
Pfami | View protein in Pfam PF00719, Pyrophosphatase, 1 hit |
SUPFAMi | SSF50324, SSF50324, 1 hit |
PROSITEi | View protein in PROSITE PS00387, PPASE, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | IPYR2_HUMAN | |
Accessioni | Q9H2U2Primary (citable) accession number: Q9H2U2 Secondary accession number(s): B4DLP7 Q9ULX0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | September 27, 2004 |
Last sequence update: | October 17, 2006 | |
Last modified: | December 2, 2020 | |
This is version 168 of the entry and version 2 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
Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 4
Human chromosome 4: 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 - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations