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UniProtKB - P0C7W0 (PRR29_HUMAN)

Protein

Proline-rich protein 29

Gene

PRR29

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 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:
Proline-rich protein 29
<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:PRR29
Synonyms:C17orf72
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 17

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000224383.7

Human Gene Nomenclature Database

More...HGNCi		HGNC:25673 PRR29

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P0C7W0

<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		ENSG00000224383

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142672220

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PRR29

<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_00003444681 – 189Proline-rich protein 29Add BLAST189

Proteomic databases

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

More...PaxDbi		P0C7W0

PRoteomics IDEntifications database

More...PRIDEi		P0C7W0

ProteomicsDB human proteome resource

More...ProteomicsDBi		52380

<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		ENSG00000224383 Expressed in 161 organ(s), highest expression level in right uterine tube

CleanEx database of gene expression profiles

More...CleanExi		HS_C17orf72

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P0C7W0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P0C7W0 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

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000396936

<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		P0C7W0

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 biasi73 – 166Pro-richAdd BLAST94

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410J4MP Eukaryota
ENOG4112CSZ LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000002000

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000111941

The HOVERGEN Database of Homologous Vertebrate Genes

More...HOVERGENi		HBG107756

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P0C7W0

Identification of Orthologs from Complete Genome Data

More...OMAi		RIQHCPP

Database of Orthologous Groups

More...OrthoDBi		1322603at2759

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR027904 DUF4587
IPR038915 PRR29-like

The PANTHER Classification System

More...PANTHERi		PTHR28604 PTHR28604, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF15248 DUF4587, 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>Sequences (4+)i

<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.

This entry describes 4 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P0C7W0-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MASGAGGSWG RSPPQSAVPT PWVTFLQPLS WAVPPAPPQP GRVKEDLLEL 
        60         70         80         90        100
MMLQNAQMHQ LLLSRLVAGA LQPRPASPCP QVYLEVPQEE PEEEEEEMDV 
       110        120        130        140        150
REKGPLVFHH HYLPYLMPSP GALLPWPAPF FPTPACQPYL QDVPRIQHCP 
       160        170        180 
ASREREVRAV PPPPPPSATG TVGADVPPAS DYYDAESLL
Length:189
Mass (Da):20,715
Last modified:February 6, 2013 - 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:i1110D9410668AD7C
GO
Isoform 2 (identifier: P0C7W0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     157-189: VRAVPPPPPPSATGTVGADVPPASDYYDAESLL → TTMMPRASYE...SWTGRICAVV

Note: No experimental confirmation available.
Show »
Length:236
Mass (Da):26,083
Checksum:i6FEDE51C9AA13183
GO
Isoform 3 (identifier: P0C7W0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     82-98: VYLEVPQEEPEEEEEEM → ESCAPTPTPQCHRDCGC
     99-189: Missing.

Note: No experimental confirmation available.
Show »
Length:98
Mass (Da):10,435
Checksum:i32B699C855AF48C9
GO
Isoform 4 (identifier: P0C7W0-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     22-28: Missing.

Note: No experimental confirmation available.
Show »
Length:182
Mass (Da):19,843
Checksum:i4E95DE87606A402F
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
J3QR92J3QR92_HUMAN
Proline-rich protein 29
PRR29
138Annotation score:

Annotation score:1 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>
J3KRR4J3KRR4_HUMAN
Proline-rich protein 29
PRR29
156Annotation score:

Annotation score:1 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>
J3KRF4J3KRF4_HUMAN
Proline-rich protein 29
PRR29
37Annotation score:

Annotation score:1 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 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 conflicti145R → S in BAG51052 (PubMed:14702039).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_06905524T → S1 PublicationCorresponds to variant dbSNP:rs62070903Ensembl.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_04699722 – 28Missing in isoform 4. 1 Publication7
Alternative sequenceiVSP_04534482 – 98VYLEV…EEEEM → ESCAPTPTPQCHRDCGC in isoform 3. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_04534599 – 189Missing in isoform 3. 1 PublicationAdd BLAST91
Alternative sequenceiVSP_045346157 – 189VRAVP…AESLL → TTMMPRASYEDRPRPWELHQ LPALDTAPEPPPAPLLSTPR CPWLAVLLTPSTSARPSSPG EISPCPTPMSSWTGRICAVV in isoform 2. 1 PublicationAdd BLAST33

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
AK021786 mRNA Translation: BAG51052.1
AK302960 mRNA Translation: BAG64111.1
AK304254 mRNA Translation: BAG65120.1
DB037384 mRNA No translation available.
AC005803 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS54157.1 [P0C7W0-2]
CCDS54158.1 [P0C7W0-1]
CCDS54159.1 [P0C7W0-3]
CCDS58586.1 [P0C7W0-4]

NCBI Reference Sequences

More...RefSeqi		NP_001157729.1, NM_001164257.1 [P0C7W0-1]
NP_001177958.1, NM_001191029.1 [P0C7W0-2]
NP_001177959.1, NM_001191030.1 [P0C7W0-4]
NP_001177960.1, NM_001191031.1 [P0C7W0-3]

UniGene gene-oriented nucleotide sequence clusters

More...UniGenei		Hs.708161

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000412177; ENSP00000400986; ENSG00000224383 [P0C7W0-1]
ENST00000425164; ENSP00000396936; ENSG00000224383 [P0C7W0-2]
ENST00000577953; ENSP00000463279; ENSG00000224383 [P0C7W0-3]
ENST00000579184; ENSP00000462097; ENSG00000224383 [P0C7W0-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		92340

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:92340

UCSC genome browser

More...UCSCi		uc002jdt.5 human [P0C7W0-1]

<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 - 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
AK021786 mRNA Translation: BAG51052.1
AK302960 mRNA Translation: BAG64111.1
AK304254 mRNA Translation: BAG65120.1
DB037384 mRNA No translation available.
AC005803 Genomic DNA No translation available.
CCDSiCCDS54157.1 [P0C7W0-2]
CCDS54158.1 [P0C7W0-1]
CCDS54159.1 [P0C7W0-3]
CCDS58586.1 [P0C7W0-4]
RefSeqiNP_001157729.1, NM_001164257.1 [P0C7W0-1]
NP_001177958.1, NM_001191029.1 [P0C7W0-2]
NP_001177959.1, NM_001191030.1 [P0C7W0-4]
NP_001177960.1, NM_001191031.1 [P0C7W0-3]
UniGeneiHs.708161

3D structure databases

ProteinModelPortaliP0C7W0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000396936

Polymorphism and mutation databases

BioMutaiPRR29

Proteomic databases

PaxDbiP0C7W0
PRIDEiP0C7W0
ProteomicsDBi52380

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000412177; ENSP00000400986; ENSG00000224383 [P0C7W0-1]
ENST00000425164; ENSP00000396936; ENSG00000224383 [P0C7W0-2]
ENST00000577953; ENSP00000463279; ENSG00000224383 [P0C7W0-3]
ENST00000579184; ENSP00000462097; ENSG00000224383 [P0C7W0-4]
GeneIDi92340
KEGGihsa:92340
UCSCiuc002jdt.5 human [P0C7W0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		92340
EuPathDBiHostDB:ENSG00000224383.7

GeneCards: human genes, protein and diseases

More...GeneCardsi		PRR29
HGNCiHGNC:25673 PRR29
neXtProtiNX_P0C7W0
OpenTargetsiENSG00000224383
PharmGKBiPA142672220

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410J4MP Eukaryota
ENOG4112CSZ LUCA
GeneTreeiENSGT00390000002000
HOGENOMiHOG000111941
HOVERGENiHBG107756
InParanoidiP0C7W0
OMAiRIQHCPP
OrthoDBi1322603at2759

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		PRR29 human

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

More...GenomeRNAii		92340

Protein Ontology

More...PROi		PR:P0C7W0

Gene expression databases

BgeeiENSG00000224383 Expressed in 161 organ(s), highest expression level in right uterine tube
CleanExiHS_C17orf72
ExpressionAtlasiP0C7W0 baseline and differential
GenevisibleiP0C7W0 HS

Family and domain databases

InterProiView protein in InterPro
IPR027904 DUF4587
IPR038915 PRR29-like
PANTHERiPTHR28604 PTHR28604, 1 hit
PfamiView protein in Pfam
PF15248 DUF4587, 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 nameiPRR29_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: P0C7W0
Secondary accession number(s): B3KMP0
, B4DZJ9, B4E2F8, E9PGL5, J3QKX4
<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 22, 2008
Last sequence update: February 6, 2013
Last modified: January 16, 2019
This is version 64 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
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