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Protein

Ribosome biogenesis regulatory protein homolog

Gene

RRS1

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

Annotation score:5 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

Involved in ribosomal large subunit assembly. May regulate the localization of the 5S RNP/5S ribonucleoprotein particle to the nucleolus.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

  • 5S rRNA binding Source: UniProtKB
  • RNA binding Source: UniProtKB

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 processRibosome biogenesis

<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:
Ribosome biogenesis regulatory protein homolog
<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:RRS1
Synonyms:KIAA0112, RRR
<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 8

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000179041.3

Human Gene Nomenclature Database

More...
HGNCi
HGNC:17083 RRS1

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q15050

<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

Keywords - Cellular componenti

Nucleus

<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
23212

Open Targets

More...
OpenTargetsi
ENSG00000179041

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134993138

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RRS1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
21431847

<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_00001853741 – 365Ribosome biogenesis regulatory protein homologAdd BLAST365

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 residuei1N-acetylmethionineCombined sources1 Publication1
Modified residuei5PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki154Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki226Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki266Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei273CitrullineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Citrullinated by PADI4.By similarity

Keywords - PTMi

Acetylation, Citrullination, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q15050

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q15050

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

More...
PaxDbi
Q15050

PeptideAtlas

More...
PeptideAtlasi
Q15050

PRoteomics IDEntifications database

More...
PRIDEi
Q15050

ProteomicsDB human proteome resource

More...
ProteomicsDBi
60402

Consortium for Top Down Proteomics

More...
TopDownProteomicsi
Q15050

2D gel databases

Two-dimensional polyacrylamide gel electrophoresis database from the Geneva University Hospital

More...
SWISS-2DPAGEi
Q15050

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q15050

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

More...
PhosphoSitePlusi
Q15050

<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
ENSG00000179041 Expressed in 111 organ(s), highest expression level in left coronary artery

CleanEx database of gene expression profiles

More...
CleanExi
HS_RRS1

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q15050 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA055549
HPA060937

<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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
APPBP2Q926246EBI-749186,EBI-743771

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
116819, 193 interactors

Protein interaction database and analysis system

More...
IntActi
Q15050, 10 interactors

Molecular INTeraction database

More...
MINTi
Q15050

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000322396

<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
Q15050

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

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 biasi302 – 365Arg/Gly/Lys-richAdd BLAST64

<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 RRS1 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1765 Eukaryota
COG5225 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000005213

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000017552

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG036121

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q15050

KEGG Orthology (KO)

More...
KOi
K14852

Identification of Orthologs from Complete Genome Data

More...
OMAi
KWEKFAK

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0I2Z

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q15050

TreeFam database of animal gene trees

More...
TreeFami
TF313067

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR007023 Ribosom_reg

The PANTHER Classification System

More...
PANTHERi
PTHR17602 PTHR17602, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF04939 RRS1, 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.

Q15050-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MEGQSVEELL AKAEQDEAEK LQRITVHKEL ELQFDLGNLL ASDRNPPTGL
60 70 80 90 100
RCAGPTPEAE LQALARDNTQ LLINQLWQLP TERVEEAIVA RLPEPTTRLP
110 120 130 140 150
REKPLPRPRP LTRWQQFARL KGIRPKKKTN LVWDEVSGQW RRRWGYQRAR
160 170 180 190 200
DDTKEWLIEV PGNADPLEDQ FAKRIQAKKE RVAKNELNRL RNLARAHKMQ
210 220 230 240 250
LPSAAGLHPT GHQSKEELGR AMQVAKVSTA SVGRFQERLP KEKVPRGSGK
260 270 280 290 300
KRKFQPLFGD FAAEKKNQLE LLRVMNSKKP QLDVTRATNK QMREEDQEEA
310 320 330 340 350
AKRRKMSQKG KRKGGRQGPG GKRKGGPPSQ GGKRKGGLGG KMNSGPPGLG
360
GKRKGGQRPG GKRRK
Length:365
Mass (Da):41,193
Last modified:June 6, 2002 - 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:i061C3A6174C2E7C2
GO

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA04948 differs from that shown. Reason: Erroneous initiation.Curated

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_051887116Q → H. Corresponds to variant dbSNP:rs34077648Ensembl.1
Natural variantiVAR_051888126K → R. Corresponds to variant dbSNP:rs3739335Ensembl.1
Natural variantiVAR_020484191R → L. Corresponds to variant dbSNP:rs3739336Ensembl.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
D25218 mRNA Translation: BAA04948.1 Different initiation.
BC001811 mRNA Translation: AAH01811.1
BC013043 mRNA Translation: AAH13043.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS6189.1

NCBI Reference Sequences

More...
RefSeqi
NP_055984.1, NM_015169.3

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.71827

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000320270; ENSP00000322396; ENSG00000179041

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
23212

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:23212

UCSC genome browser

More...
UCSCi
uc003xwa.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
D25218 mRNA Translation: BAA04948.1 Different initiation.
BC001811 mRNA Translation: AAH01811.1
BC013043 mRNA Translation: AAH13043.1
CCDSiCCDS6189.1
RefSeqiNP_055984.1, NM_015169.3
UniGeneiHs.71827

3D structure databases

ProteinModelPortaliQ15050
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116819, 193 interactors
IntActiQ15050, 10 interactors
MINTiQ15050
STRINGi9606.ENSP00000322396

PTM databases

iPTMnetiQ15050
PhosphoSitePlusiQ15050

Polymorphism and mutation databases

BioMutaiRRS1
DMDMi21431847

2D gel databases

SWISS-2DPAGEiQ15050

Proteomic databases

EPDiQ15050
MaxQBiQ15050
PaxDbiQ15050
PeptideAtlasiQ15050
PRIDEiQ15050
ProteomicsDBi60402
TopDownProteomicsiQ15050

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
23212
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000320270; ENSP00000322396; ENSG00000179041
GeneIDi23212
KEGGihsa:23212
UCSCiuc003xwa.3 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
23212
DisGeNETi23212
EuPathDBiHostDB:ENSG00000179041.3

GeneCards: human genes, protein and diseases

More...
GeneCardsi
RRS1
HGNCiHGNC:17083 RRS1
HPAiHPA055549
HPA060937
neXtProtiNX_Q15050
OpenTargetsiENSG00000179041
PharmGKBiPA134993138

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1765 Eukaryota
COG5225 LUCA
GeneTreeiENSGT00390000005213
HOGENOMiHOG000017552
HOVERGENiHBG036121
InParanoidiQ15050
KOiK14852
OMAiKWEKFAK
OrthoDBiEOG091G0I2Z
PhylomeDBiQ15050
TreeFamiTF313067

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
RRS1

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

More...
GenomeRNAii
23212

Protein Ontology

More...
PROi
PR:Q15050

Gene expression databases

BgeeiENSG00000179041 Expressed in 111 organ(s), highest expression level in left coronary artery
CleanExiHS_RRS1
GenevisibleiQ15050 HS

Family and domain databases

InterProiView protein in InterPro
IPR007023 Ribosom_reg
PANTHERiPTHR17602 PTHR17602, 1 hit
PfamiView protein in Pfam
PF04939 RRS1, 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 nameiRRS1_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: Q15050
Secondary accession number(s): Q9BUX8
<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: June 6, 2002
Last modified: December 5, 2018
This is version 164 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: 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. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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