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Entry version 140 (10 Apr 2019)
Sequence version 2 (01 Mar 2005)
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Protein

12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid receptor

Gene

GPR31

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

Annotation score:3 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 transcript 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

High-affinity receptor for 12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid (12-S-HETE). 12-(S)-HETE is an arachidonic acid metabolite secreted by platelets and tumor cells, and known to induce endothelial cells retraction allowing invasive cell access to the subendothelial matrix, which is a critical step for extravasation or metastasis. Ligand-binding lead to activation of ERK1/2 (MAPK3/MAPK1), MEK, and NF-kappa-B.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

GO - Biological processi

<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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-418594 G alpha (i) signalling events
R-HSA-444209 Free fatty acid receptors

<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:
12-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid receptor
Short name:
12-(S)-HETE receptor
Short name:
12-HETER
Alternative name(s):
G-protein coupled receptor 31
<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:GPR31
<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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<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 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000120436.3

Human Gene Nomenclature Database

More...
HGNCi
HGNC:4486 GPR31

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
602043 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O00270

<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 & Seán O’Donoghue; 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 – 16ExtracellularSequence analysisAdd BLAST16
<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>Transmembranei17 – 37Helical; Name=1Sequence analysisAdd BLAST21
Topological domaini38 – 52CytoplasmicSequence analysisAdd BLAST15
Transmembranei53 – 73Helical; Name=2Sequence analysisAdd BLAST21
Topological domaini74 – 91ExtracellularSequence analysisAdd BLAST18
Transmembranei92 – 110Helical; Name=3Sequence analysisAdd BLAST19
Topological domaini111 – 131CytoplasmicSequence analysisAdd BLAST21
Transmembranei132 – 152Helical; Name=4Sequence analysisAdd BLAST21
Topological domaini153 – 180ExtracellularSequence analysisAdd BLAST28
Transmembranei181 – 201Helical; Name=5Sequence analysisAdd BLAST21
Topological domaini202 – 219CytoplasmicSequence analysisAdd BLAST18
Transmembranei220 – 240Helical; Name=6Sequence analysisAdd BLAST21
Topological domaini241 – 265ExtracellularSequence analysisAdd BLAST25
Transmembranei266 – 284Helical; Name=7Sequence analysisAdd BLAST19
Topological domaini285 – 319CytoplasmicSequence analysisAdd BLAST35

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

Open Targets

More...
OpenTargetsi
ENSG00000120436

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28874

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
GPR31

<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_00000695511 – 31912-(S)-hydroxy-5,8,10,14-eicosatetraenoic acid receptorAdd BLAST319

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>Glycosylationi5N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

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

More...
PaxDbi
O00270

PRoteomics IDEntifications database

More...
PRIDEi
O00270

ProteomicsDB human proteome resource

More...
ProteomicsDBi
47819

<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
ENSG00000120436 Expressed in 1 organ(s), highest expression level in spleen

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
O00270 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA014014
HPA027108

<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

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000355799

<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
O00270

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
ENOG410IE56 Eukaryota
ENOG410ZU85 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182614

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000285939

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG100615

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
O00270

KEGG Orthology (KO)

More...
KOi
K08406

Identification of Orthologs from Complete Genome Data

More...
OMAi
LKVWKPY

Database of Orthologous Groups

More...
OrthoDBi
903658at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
O00270

TreeFam database of animal gene trees

More...
TreeFami
TF337237

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

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

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.

O00270-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MPFPNCSAPS TVVATAVGVL LGLECGLGLL GNAVALWTFL FRVRVWKPYA
60 70 80 90 100
VYLLNLALAD LLLAACLPFL AAFYLSLQAW HLGRVGCWAL HFLLDLSRSV
110 120 130 140 150
GMAFLAAVAL DRYLRVVHPR LKVNLLSPQA ALGVSGLVWL LMVALTCPGL
160 170 180 190 200
LISEAAQNST RCHSFYSRAD GSFSIIWQEA LSCLQFVLPF GLIVFCNAGI
210 220 230 240 250
IRALQKRLRE PEKQPKLQRA QALVTLVVVL FALCFLPCFL ARVLMHIFQN
260 270 280 290 300
LGSCRALCAV AHTSDVTGSL TYLHSVLNPV VYCFSSPTFR SSYRRVFHTL
310
RGKGQAAEPP DFNPRDSYS
Length:319
Mass (Da):35,075
Last modified:March 1, 2005 - v2
<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:i2ACD0350AD7FB53A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti73F → L in AAH95537 (PubMed:15489334).Curated1
Sequence conflicti277L → V in AAC51375 (PubMed:9205127).Curated1

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_04939291H → R4 PublicationsCorresponds to variant dbSNP:rs6902566Ensembl.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
U65402 Genomic DNA Translation: AAC51375.1
EU432117 Genomic DNA Translation: ABY87916.1
AL121935 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW47505.1
BC095537 mRNA Translation: AAH95537.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS5299.1

NCBI Reference Sequences

More...
RefSeqi
NP_005290.2, NM_005299.2

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.248124

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000366834; ENSP00000355799; ENSG00000120436

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2853

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2853

UCSC genome browser

More...
UCSCi
uc011egq.3 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
U65402 Genomic DNA Translation: AAC51375.1
EU432117 Genomic DNA Translation: ABY87916.1
AL121935 Genomic DNA No translation available.
CH471051 Genomic DNA Translation: EAW47505.1
BC095537 mRNA Translation: AAH95537.1
CCDSiCCDS5299.1
RefSeqiNP_005290.2, NM_005299.2
UniGeneiHs.248124

3D structure databases

ProteinModelPortaliO00270
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000355799

Protein family/group databases

Information system for G protein-coupled receptors (GPCRs)

More...
GPCRDBi
Search...

Polymorphism and mutation databases

BioMutaiGPR31

Proteomic databases

PaxDbiO00270
PRIDEiO00270
ProteomicsDBi47819

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2853
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000366834; ENSP00000355799; ENSG00000120436
GeneIDi2853
KEGGihsa:2853
UCSCiuc011egq.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2853
EuPathDBiHostDB:ENSG00000120436.3

GeneCards: human genes, protein and diseases

More...
GeneCardsi
GPR31
HGNCiHGNC:4486 GPR31
HPAiHPA014014
HPA027108
MIMi602043 gene
neXtProtiNX_O00270
OpenTargetsiENSG00000120436
PharmGKBiPA28874

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IE56 Eukaryota
ENOG410ZU85 LUCA
GeneTreeiENSGT00950000182614
HOGENOMiHOG000285939
HOVERGENiHBG100615
InParanoidiO00270
KOiK08406
OMAiLKVWKPY
OrthoDBi903658at2759
PhylomeDBiO00270
TreeFamiTF337237

Enzyme and pathway databases

ReactomeiR-HSA-418594 G alpha (i) signalling events
R-HSA-444209 Free fatty acid receptors

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
GPR31

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

More...
GenomeRNAii
2853

Protein Ontology

More...
PROi
PR:O00270

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000120436 Expressed in 1 organ(s), highest expression level in spleen
GenevisibleiO00270 HS

Family and domain databases

InterProiView protein in InterPro
IPR000276 GPCR_Rhodpsn
IPR017452 GPCR_Rhodpsn_7TM
PfamiView protein in Pfam
PF00001 7tm_1, 1 hit
PRINTSiPR00237 GPCRRHODOPSN
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 nameiGPR31_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: O00270
Secondary accession number(s): B0M0K2, Q4VBL3, Q9NQ20
<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: March 1, 2005
Last modified: April 10, 2019
This is version 140 of the entry and version 2 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. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  6. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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