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Entry version 137 (02 Dec 2020)
Sequence version 1 (01 Oct 2002)
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Protein

Tetratricopeptide repeat protein 9B

Gene

TTC9B

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

Annotation score:2 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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8N6N2

<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%5Fand%5Ftaxonomy%5Fsection">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:
Tetratricopeptide repeat protein 9B
Short name:
TPR repeat protein 9B
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:TTC9B
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 and Host Database Resources

More...
EuPathDBi
HostDB:ENSG00000174521.7

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26395, TTC9B

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N6N2

<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
148014

Open Targets

More...
OpenTargetsi
ENSG00000174521

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142670684

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8N6N2, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TTC9B

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74759948

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002944591 – 239Tetratricopeptide repeat protein 9BAdd BLAST239

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei7PhosphoserineBy similarity1
Modified residuei27PhosphoserineBy similarity1

<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>Keywords - PTMi

Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8N6N2

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

More...
PaxDbi
Q8N6N2

PeptideAtlas

More...
PeptideAtlasi
Q8N6N2

PRoteomics IDEntifications database

More...
PRIDEi
Q8N6N2

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
72202 [Q8N6N2-1]
72203 [Q8N6N2-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N6N2

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

More...
PhosphoSitePlusi
Q8N6N2

<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
ENSG00000174521, Expressed in amygdala and 134 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N6N2, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000174521, Tissue enriched (brain)

<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
127113, 5 interactors

Protein interaction database and analysis system

More...
IntActi
Q8N6N2, 6 interactors

Molecular INTeraction database

More...
MINTi
Q8N6N2

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000311760

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8N6N2, protein

<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

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8N6N2

Database of comparative protein structure models

More...
ModBasei
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>Repeati65 – 99TPR 1Add BLAST35
Repeati171 – 204TPR 2Add BLAST34

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi17 – 50Pro-richAdd BLAST34

<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 TTC9 family.Curated

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QQHT, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000161494

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_100621_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N6N2

Identification of Orthologs from Complete Genome Data

More...
OMAi
KQHPIKS

Database of Orthologous Groups

More...
OrthoDBi
1535136at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N6N2

TreeFam database of animal gene trees

More...
TreeFami
TF331917

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.40.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR013026, TPR-contain_dom
IPR011990, TPR-like_helical_dom_sf
IPR013105, TPR_2
IPR019734, TPR_repeat

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF07719, TPR_2, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00028, TPR, 2 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48452, SSF48452, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50005, TPR, 1 hit
PS50293, TPR_REGION, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q8N6N2-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MQRGALSPVL MLSAAPEPPP RPPPALSPPG SGPGSGSRHG SARPGPTPEP
60 70 80 90 100
SGSLGAALDS SLRAAVAFKA EGQRCYREKK FREAIGKYHR ALLQLKAAQG
110 120 130 140 150
ARPSGLPAPA PGPTSSPGPA RLSEEQRRLV ESTEVECYDS LTACLLQSEL
160 170 180 190 200
VNYERVREYC LKVLEKQQGN FKATYRAGIA FYHLGDYARA LRYLQEARSR
210 220 230
EPTDTNVLRY IQLTQLKMNR CSLQREDSGA GSQTRDVIG
Length:239
Mass (Da):25,932
Last modified:October 1, 2002 - 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:i4976497A9B84ABD0
GO
Isoform 2 (identifier: Q8N6N2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     143-239: ACLLQSELVN...AGSQTRDVIG → GTPSGGGGMG...SLQSLIKERD

Note: May be due to an intron retention.Curated
Show »
Length:192
Mass (Da):19,480
Checksum:i1110B95DA3B042D8
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_052625223L → P. Corresponds to variant dbSNP:rs11553464Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_026650143 – 239ACLLQ…RDVIG → GTPSGGGGMGHEGRGQSGEL GDLGARGPGAEGSRAVGFSG SLQSLIKERD in isoform 2. 1 PublicationAdd BLAST97

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
AK054935 mRNA Translation: BAB70830.1
AK289550 mRNA Translation: BAF82239.1
AC118344 Genomic DNA No translation available.
CH471126 Genomic DNA Translation: EAW56938.1
BC029539 mRNA Translation: AAH29539.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS12550.1 [Q8N6N2-1]

NCBI Reference Sequences

More...
RefSeqi
NP_689692.2, NM_152479.5 [Q8N6N2-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000311308; ENSP00000311760; ENSG00000174521 [Q8N6N2-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
148014

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:148014

UCSC genome browser

More...
UCSCi
uc002onc.3, human [Q8N6N2-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
AK054935 mRNA Translation: BAB70830.1
AK289550 mRNA Translation: BAF82239.1
AC118344 Genomic DNA No translation available.
CH471126 Genomic DNA Translation: EAW56938.1
BC029539 mRNA Translation: AAH29539.1
CCDSiCCDS12550.1 [Q8N6N2-1]
RefSeqiNP_689692.2, NM_152479.5 [Q8N6N2-1]

3D structure databases

SMRiQ8N6N2
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi127113, 5 interactors
IntActiQ8N6N2, 6 interactors
MINTiQ8N6N2
STRINGi9606.ENSP00000311760

PTM databases

iPTMnetiQ8N6N2
PhosphoSitePlusiQ8N6N2

Polymorphism and mutation databases

BioMutaiTTC9B
DMDMi74759948

Proteomic databases

MassIVEiQ8N6N2
PaxDbiQ8N6N2
PeptideAtlasiQ8N6N2
PRIDEiQ8N6N2
ProteomicsDBi72202 [Q8N6N2-1]
72203 [Q8N6N2-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
30476, 53 antibodies

Genome annotation databases

EnsembliENST00000311308; ENSP00000311760; ENSG00000174521 [Q8N6N2-1]
GeneIDi148014
KEGGihsa:148014
UCSCiuc002onc.3, human [Q8N6N2-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
148014
DisGeNETi148014
EuPathDBiHostDB:ENSG00000174521.7

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TTC9B
HGNCiHGNC:26395, TTC9B
HPAiENSG00000174521, Tissue enriched (brain)
neXtProtiNX_Q8N6N2
OpenTargetsiENSG00000174521
PharmGKBiPA142670684

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QQHT, Eukaryota
GeneTreeiENSGT00940000161494
HOGENOMiCLU_100621_1_0_1
InParanoidiQ8N6N2
OMAiKQHPIKS
OrthoDBi1535136at2759
PhylomeDBiQ8N6N2
TreeFamiTF331917

Enzyme and pathway databases

PathwayCommonsiQ8N6N2

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
148014, 2 hits in 839 CRISPR screens

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

More...
GenomeRNAii
148014
PharosiQ8N6N2, Tdark

Protein Ontology

More...
PROi
PR:Q8N6N2
RNActiQ8N6N2, protein

Gene expression databases

BgeeiENSG00000174521, Expressed in amygdala and 134 other tissues
GenevisibleiQ8N6N2, HS

Family and domain databases

Gene3Di1.25.40.10, 1 hit
InterProiView protein in InterPro
IPR013026, TPR-contain_dom
IPR011990, TPR-like_helical_dom_sf
IPR013105, TPR_2
IPR019734, TPR_repeat
PfamiView protein in Pfam
PF07719, TPR_2, 1 hit
SMARTiView protein in SMART
SM00028, TPR, 2 hits
SUPFAMiSSF48452, SSF48452, 1 hit
PROSITEiView protein in PROSITE
PS50005, TPR, 1 hit
PS50293, TPR_REGION, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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 nameiTTC9B_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: Q8N6N2
Secondary accession number(s): A8K0I5, Q96NP9
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 10, 2007
Last sequence update: October 1, 2002
Last modified: December 2, 2020
This is version 137 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

Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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