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UniProtKB - O15529 (GPR42_HUMAN)

Protein

G-protein coupled receptor 42

Gene

GPR42

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:4 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Probable G protein-coupled receptor that may be activated by a major product of dietary fiber digestion, the short chain fatty acids (SCFAs), and that may play a role in the regulation of whole-body energy homeostasis and/or in intestinal immunity.1 Publication

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • G protein-coupled receptor activity Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionG-protein coupled receptor, Receptor, Transducer

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
G-protein coupled receptor 42
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:GPR42
Synonyms:GPR42P
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 19

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000126251.6

Human Gene Nomenclature Database

More...HGNCi		HGNC:4500 GPR42

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		603822 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O15529

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 19ExtracellularSequence analysisAdd BLAST19
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei20 – 40Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini41 – 47Cytoplasmic7
Transmembranei48 – 68Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini69 – 90ExtracellularSequence analysisAdd BLAST22
Transmembranei91 – 111Helical; Name=3Sequence analysisAdd BLAST21
Topological domaini112 – 132CytoplasmicSequence analysisAdd BLAST21
Transmembranei133 – 153Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini154 – 178ExtracellularSequence analysisAdd BLAST25
Transmembranei179 – 199Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini200 – 222CytoplasmicSequence analysisAdd BLAST23
Transmembranei223 – 243Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini244 – 258ExtracellularSequence analysisAdd BLAST15
Transmembranei259 – 279Helical; Name=7Sequence analysisAdd BLAST21
Topological domaini280 – 346CytoplasmicSequence analysisAdd BLAST67

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

More...DisGeNETi		2866

Open Targets

More...OpenTargetsi		ENSG00000126251

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		GPR42

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000695701 – 346G-protein coupled receptor 42Add BLAST346

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi166N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		O15529

PRoteomics IDEntifications database

More...PRIDEi		O15529

ProteomicsDB human proteome resource

More...ProteomicsDBi		48735

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000126251 Expressed in 20 organ(s), highest expression level in blood

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O15529 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O15529 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA044681

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

Protein interaction database and analysis system

More...IntActi		O15529, 74 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000410925

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...ProteinModelPortali		O15529

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the G-protein coupled receptor 1 family.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IITC Eukaryota
ENOG4111Q82 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000153898

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000026778

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG051811

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O15529

KEGG Orthology (KO)

More...KOi		K04326

Identification of Orthologs from Complete Genome Data

More...OMAi		SSSIFHC

Database of Orthologous Groups

More...OrthoDBi		1129026at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O15529

TreeFam database of animal gene trees

More...TreeFami		TF350010

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000276 GPCR_Rhodpsn
IPR017452 GPCR_Rhodpsn_7TM
IPR013312 GPR40-rel_orph

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00001 7tm_1, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00237 GPCRRHODOPSN
PR01904 GPR40FAMILY

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00237 G_PROTEIN_RECEP_F1_1, 1 hit
PS50262 G_PROTEIN_RECEP_F1_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

O15529-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDTGPDQSYF SGNHWFVFSV YLLTFLVGLP LNLLALVVFV GKLRCRPVAV 
        60         70         80         90        100
DVLLLNLTAS DLLLLLFLPF RMVEAANGMH WPLPFILCPL SGFIFFTTIY 
       110        120        130        140        150
LTALFLAAVS IERFLSVAHP LWYKTRPRLG QAGLVSVACW LLASAHCSVV 
       160        170        180        190        200
YVIEFSGDIS HSQGTNGTCY LEFWKDQLAI LLPVRLEMAV VLFVVPLIIT 
       210        220        230        240        250
SYCYSRLVWI LGRGGSHRRQ RRVAGLVAAT LLNFLVCFGP YNVSHVVGYI 
       260        270        280        290        300
CGESPVWRIY VTLLSTLNSC VDPFVYYFSS SGFQADFHEL LRRLCGLWGQ 
       310        320        330        340 
WQQESSMELK EQKGGEEQRA DRPAERKTSE HSQGCGTGGQ VACAEN
Length:346
Mass (Da):38,695
Last modified:January 1, 1998 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i03F6742DA4B798D0
GO

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Was originally thought to be a pseudogene due to the presence of a Trp at position 174 which prevents activation by short chain fatty acids, such as propionate (PubMed:12496283). However, the inactivating Trp-174 that differentiate GPR42 from the homologous functional G-protein-coupled receptor FFAR3 is most probably polymorphic for both genes in the human population. The frequency of the active allele of GPR42, with Arg at position 174, is estimated to 61%. Moreover, the 5 other amino acid differences at positions 44, 45, 227, 256 and 346 between GPR42 and FFAR3, are also polymorphic in the human population (PubMed:19630535).2 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06286044R → Q1 PublicationCorresponds to variant dbSNP:rs878906072Ensembl.1
Natural variantiVAR_03346845C → R1 PublicationCorresponds to variant dbSNP:rs423385Ensembl.1
Natural variantiVAR_062861174W → R Common polymorphism; restores responses to propionate. 2 PublicationsCorresponds to variant dbSNP:rs424241Ensembl.1
Natural variantiVAR_033469227V → L1 PublicationCorresponds to variant dbSNP:rs403989Ensembl.1
Natural variantiVAR_033470256V → A1 PublicationCorresponds to variant dbSNP:rs424715Ensembl.1
Natural variantiVAR_062862346N → S1 PublicationCorresponds to variant dbSNP:rs381478Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF024689 Genomic DNA Translation: AAB86712.1
AC002511 Genomic DNA Translation: AAB67885.1

Protein sequence database of the Protein Information Resource

More...PIRi		JC5716

NCBI Reference Sequences

More...RefSeqi		NP_001335124.1, NM_001348195.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000454971; ENSP00000410925; ENSG00000126251
ENST00000597214; ENSP00000473212; ENSG00000126251

Database of genes from NCBI RefSeq genomes

More...GeneIDi		2866

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:2866

UCSC genome browser

More...UCSCi		uc021usn.2 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF024689 Genomic DNA Translation: AAB86712.1
AC002511 Genomic DNA Translation: AAB67885.1
PIRiJC5716
RefSeqiNP_001335124.1, NM_001348195.1

3D structure databases

ProteinModelPortaliO15529
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiO15529, 74 interactors
STRINGi9606.ENSP00000410925

Protein family/group databases

Information system for G protein-coupled receptors (GPCRs)

More...GPCRDBi		Search...

Polymorphism and mutation databases

BioMutaiGPR42

Proteomic databases

PaxDbiO15529
PRIDEiO15529
ProteomicsDBi48735

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000454971; ENSP00000410925; ENSG00000126251
ENST00000597214; ENSP00000473212; ENSG00000126251
GeneIDi2866
KEGGihsa:2866
UCSCiuc021usn.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		2866
DisGeNETi2866
EuPathDBiHostDB:ENSG00000126251.6

GeneCards: human genes, protein and diseases

More...GeneCardsi		GPR42

H-Invitational Database, human transcriptome db

More...H-InvDBi		HIX0040157
HGNCiHGNC:4500 GPR42
HPAiHPA044681
MIMi603822 gene
neXtProtiNX_O15529
OpenTargetsiENSG00000126251

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IITC Eukaryota
ENOG4111Q82 LUCA
GeneTreeiENSGT00940000153898
HOGENOMiHOG000026778
HOVERGENiHBG051811
InParanoidiO15529
KOiK04326
OMAiSSSIFHC
OrthoDBi1129026at2759
PhylomeDBiO15529
TreeFamiTF350010

Miscellaneous databases

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		2866

Protein Ontology

More...PROi		PR:O15529

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000126251 Expressed in 20 organ(s), highest expression level in blood
ExpressionAtlasiO15529 baseline and differential
GenevisibleiO15529 HS

Family and domain databases

InterProiView protein in InterPro
IPR000276 GPCR_Rhodpsn
IPR017452 GPCR_Rhodpsn_7TM
IPR013312 GPR40-rel_orph
PfamiView protein in Pfam
PF00001 7tm_1, 1 hit
PRINTSiPR00237 GPCRRHODOPSN
PR01904 GPR40FAMILY
PROSITEiView protein in PROSITE
PS00237 G_PROTEIN_RECEP_F1_1, 1 hit
PS50262 G_PROTEIN_RECEP_F1_2, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiGPR42_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O15529
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: January 1, 1998
Last modified: January 16, 2019
This is version 144 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  3. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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