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Protein

Ankyrin repeat and SOCS box protein 17

Gene

ASB17

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

May be a substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

<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 - 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

Biological processUbl conjugation pathway

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation

UniPathway: a resource for the exploration and annotation of metabolic pathways

More...
UniPathwayi
UPA00143

<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:
Ankyrin repeat and SOCS box protein 17
Short name:
ASB-17
<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:ASB17
<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 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000154007.6

Human Gene Nomenclature Database

More...
HGNCi
HGNC:19769 ASB17

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8WXJ9

<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

<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
ENSG00000154007

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134958560

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ASB17

Domain mapping of disease mutations (DMDM)

More...
DMDMi
38372883

<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_00000669591 – 295Ankyrin repeat and SOCS box protein 17Add BLAST295

Proteomic databases

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

More...
PaxDbi
Q8WXJ9

PeptideAtlas

More...
PeptideAtlasi
Q8WXJ9

PRoteomics IDEntifications database

More...
PRIDEi
Q8WXJ9

ProteomicsDB human proteome resource

More...
ProteomicsDBi
75071

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8WXJ9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8WXJ9

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Specifically expressed in testis. Not detected in other tissues tested.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000154007 Expressed in 15 organ(s), highest expression level in testis

CleanEx database of gene expression profiles

More...
CleanExi
HS_ASB17

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8WXJ9 HS

<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

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
126044, 20 interactors

Protein interaction database and analysis system

More...
IntActi
Q8WXJ9, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000284142

<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
Q8WXJ9

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati146 – 176ANKAdd BLAST31
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini232 – 295SOCS boxPROSITE-ProRule annotationAdd BLAST64

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin-protein ligase complexes.By similarity

<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 ankyrin SOCS box (ASB) family.Curated

Keywords - Domaini

ANK repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IHXS Eukaryota
ENOG4111HC1 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000018077

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000034087

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG050587

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8WXJ9

KEGG Orthology (KO)

More...
KOi
K10339

Identification of Orthologs from Complete Genome Data

More...
OMAi
ITIRTQL

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0CSM

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8WXJ9

TreeFam database of animal gene trees

More...
TreeFami
TF337448

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.40.20, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR036770 Ankyrin_rpt-contain_sf
IPR039147 ASB17
IPR001496 SOCS_box
IPR036036 SOCS_box-like_dom_sf

The PANTHER Classification System

More...
PANTHERi
PTHR20966 PTHR20966, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07525 SOCS_box, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00969 SOCS_box, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF158235 SSF158235, 1 hit
SSF48403 SSF48403, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50225 SOCS, 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.

Q8WXJ9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSKSTKLCGK TSCPRSNIFC NLLDKIVKRP SLQFLGQWGY HCYEPRIYRS
60 70 80 90 100
LAKILRYVDL DGFDALLTDY IAFVEKSGYR FEVSFNLDFT EICVNTILYW
110 120 130 140 150
VFARKGNPDF VELLLKKTKD YVQDRSCNLA LIWRTFTPVY CPSPLSGITP
160 170 180 190 200
LFYVAQTRQS NIFKILLQYG ILEREKNPIN IVLTIVLYPS RVRVMVDREL
210 220 230 240 250
ADIHEDAKTC LVLCSRVLSV ISVKEIKTQL SLGRHPIISN WFDYIPSTRY
260 270 280 290
KDPCELLHLC RLTIRNQLLT NNMLPDGIFS LLIPARLQNY LNLEI
Length:295
Mass (Da):34,282
Last modified:November 14, 2003 - 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:iD2F9F2C54CF2BF7F
GO

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_0241742S → N. Corresponds to variant dbSNP:rs3795251Ensembl.1
Natural variantiVAR_048288101V → A. Corresponds to variant dbSNP:rs1796814Ensembl.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
AK098606 mRNA Translation: BAC05350.1
AF429968 mRNA Translation: AAN85310.1
AC092813 Genomic DNA No translation available.
AL445464 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX06391.1
BC036573 mRNA Translation: AAH36573.1
AF403035 mRNA Translation: AAL57354.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS671.1

NCBI Reference Sequences

More...
RefSeqi
NP_543144.1, NM_080868.2

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.125423

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000284142; ENSP00000284142; ENSG00000154007

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
127247

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:127247

UCSC genome browser

More...
UCSCi
uc001dhe.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
AK098606 mRNA Translation: BAC05350.1
AF429968 mRNA Translation: AAN85310.1
AC092813 Genomic DNA No translation available.
AL445464 Genomic DNA No translation available.
CH471059 Genomic DNA Translation: EAX06391.1
BC036573 mRNA Translation: AAH36573.1
AF403035 mRNA Translation: AAL57354.1
CCDSiCCDS671.1
RefSeqiNP_543144.1, NM_080868.2
UniGeneiHs.125423

3D structure databases

ProteinModelPortaliQ8WXJ9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi126044, 20 interactors
IntActiQ8WXJ9, 1 interactor
STRINGi9606.ENSP00000284142

PTM databases

iPTMnetiQ8WXJ9
PhosphoSitePlusiQ8WXJ9

Polymorphism and mutation databases

BioMutaiASB17
DMDMi38372883

Proteomic databases

PaxDbiQ8WXJ9
PeptideAtlasiQ8WXJ9
PRIDEiQ8WXJ9
ProteomicsDBi75071

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
127247
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000284142; ENSP00000284142; ENSG00000154007
GeneIDi127247
KEGGihsa:127247
UCSCiuc001dhe.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
127247
EuPathDBiHostDB:ENSG00000154007.6

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ASB17
HGNCiHGNC:19769 ASB17
neXtProtiNX_Q8WXJ9
OpenTargetsiENSG00000154007
PharmGKBiPA134958560

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IHXS Eukaryota
ENOG4111HC1 LUCA
GeneTreeiENSGT00390000018077
HOGENOMiHOG000034087
HOVERGENiHBG050587
InParanoidiQ8WXJ9
KOiK10339
OMAiITIRTQL
OrthoDBiEOG091G0CSM
PhylomeDBiQ8WXJ9
TreeFamiTF337448

Enzyme and pathway databases

UniPathwayi
UPA00143

ReactomeiR-HSA-8951664 Neddylation
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation

Miscellaneous databases

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

More...
GenomeRNAii
127247

Protein Ontology

More...
PROi
PR:Q8WXJ9

Gene expression databases

BgeeiENSG00000154007 Expressed in 15 organ(s), highest expression level in testis
CleanExiHS_ASB17
GenevisibleiQ8WXJ9 HS

Family and domain databases

Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR036770 Ankyrin_rpt-contain_sf
IPR039147 ASB17
IPR001496 SOCS_box
IPR036036 SOCS_box-like_dom_sf
PANTHERiPTHR20966 PTHR20966, 1 hit
PfamiView protein in Pfam
PF07525 SOCS_box, 1 hit
SMARTiView protein in SMART
SM00969 SOCS_box, 1 hit
SUPFAMiSSF158235 SSF158235, 1 hit
SSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50225 SOCS, 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 nameiASB17_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: Q8WXJ9
Secondary accession number(s): B1APB8, Q8N0X5
<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: May 10, 2002
Last sequence update: November 14, 2003
Last modified: September 12, 2018
This is version 132 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. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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