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UniProtKB - O96001 (PPR17_HUMAN)

Entry version 139 (02 Dec 2020)
Sequence version 2 (11 Jan 2011)
Previous versions | rss
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Protein

Protein phosphatase 1 regulatory subunit 17

Gene

PPP1R17

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 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

Inhibits phosphatase activities of protein phosphatase 1 (PP1) and protein phosphatase 2A (PP2A) complexes.By similarity

<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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionProtein phosphatase inhibitor

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		O96001

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		O96001

<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:
Protein phosphatase 1 regulatory subunit 17
Alternative name(s):
G-substrate
<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:PPP1R17
Synonyms:C7orf16, GSBS
<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 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%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 7

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000106341.10

Human Gene Nomenclature Database

More...HGNCi		HGNC:16973, PPP1R17

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		604088, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_O96001

<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		10842

MalaCards human disease database

More...MalaCardsi		PPP1R17

Open Targets

More...OpenTargetsi		ENSG00000106341

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134908901

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		O96001, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PPP1R17

<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_00000838691 – 155Protein phosphatase 1 regulatory subunit 17Add BLAST155

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 residuei68Phosphothreonine; by PKG/PRKG11 Publication1
Modified residuei119Phosphothreonine; by PKG/PRKG11 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

Substrate for cGMP-dependent protein kinase. Phosphorylated by PRKG1 isoform alpha. Phosphorylation of Thr-68 and Thr-119 is required for its phosphatase activity (By similarity).By similarity
Substrate for cGMP-dependent protein kinase.

Keywords - PTMi

Phosphoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		O96001

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

More...PaxDbi		O96001

PeptideAtlas

More...PeptideAtlasi		O96001

PRoteomics IDEntifications database

More...PRIDEi		O96001

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		51180 [O96001-1]
51181 [O96001-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		O96001

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

More...PhosphoSitePlusi		O96001

<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

Highly expressed in cerebellum.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000106341, Expressed in subventricular zone (inner) (primate) and 91 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		O96001, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		O96001, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000106341, Group enriched (adrenal gland, blood, 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		116054, 3 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000340125

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		O96001, 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		O96001

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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502S50G, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000005586

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_113768_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		O96001

Identification of Orthologs from Complete Genome Data

More...OMAi		PGVISEH

Database of Orthologous Groups

More...OrthoDBi		904682at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		O96001

TreeFam database of animal gene trees

More...TreeFami		TF335928

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR033242, PPP1R17

The PANTHER Classification System

More...PANTHERi		PTHR15387, PTHR15387, 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: O96001-1) [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
MMSTEQMQPL ELSEDRLDKL DPRCSHLDDL SDQFIKDCDL KKKPRKGKNV 
        60         70         80         90        100
QATLNVESDQ KKPRRKDTPA LHIPPFIPGV FSEHLIKRYD VQERHPKGKM 
       110        120        130        140        150
IPVLHNTDLE QKKPRRKDTP ALHMSPFAAG VTLLRDERPK AIVEDDEKDG 

DKIAI
Length:155
Mass (Da):17,866
Last modified:January 11, 2011 - 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:i20D86A3B7F41AB0F
GO
Isoform 2 (identifier: O96001-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     28-78: Missing.

Show »
Length:104
Mass (Da):12,013
Checksum:i8A7B1692608775F2
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_05102510L → R. Corresponds to variant dbSNP:rs36047130EnsemblClinVar.1
Natural variantiVAR_02783812L → V3 PublicationsCorresponds to variant dbSNP:rs3735422Ensembl.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_04273628 – 78Missing in isoform 2. 1 PublicationAdd BLAST51

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
AF071789 mRNA Translation: AAD12588.1
AF097730 mRNA Translation: AAD13030.1
AK293478 mRNA Translation: BAG56969.1
AC006325 Genomic DNA Translation: AAF03537.1
BC028094 mRNA Translation: AAH28094.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS47570.1 [O96001-2]
CCDS5436.1 [O96001-1]

NCBI Reference Sequences

More...RefSeqi		NP_001138595.1, NM_001145123.2 [O96001-2]
NP_006649.2, NM_006658.4 [O96001-1]
XP_011513396.1, XM_011515094.1 [O96001-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000342032; ENSP00000340125; ENSG00000106341 [O96001-1]
ENST00000409146; ENSP00000386459; ENSG00000106341 [O96001-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		10842

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:10842

UCSC genome browser

More...UCSCi		uc003tcl.4, human [O96001-1]

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
AF071789 mRNA Translation: AAD12588.1
AF097730 mRNA Translation: AAD13030.1
AK293478 mRNA Translation: BAG56969.1
AC006325 Genomic DNA Translation: AAF03537.1
BC028094 mRNA Translation: AAH28094.1
CCDSiCCDS47570.1 [O96001-2]
CCDS5436.1 [O96001-1]
RefSeqiNP_001138595.1, NM_001145123.2 [O96001-2]
NP_006649.2, NM_006658.4 [O96001-1]
XP_011513396.1, XM_011515094.1 [O96001-1]

3D structure databases

SMRiO96001
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi116054, 3 interactors
STRINGi9606.ENSP00000340125

PTM databases

iPTMnetiO96001
PhosphoSitePlusiO96001

Polymorphism and mutation databases

BioMutaiPPP1R17

Proteomic databases

MassIVEiO96001
PaxDbiO96001
PeptideAtlasiO96001
PRIDEiO96001
ProteomicsDBi51180 [O96001-1]
51181 [O96001-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		26306, 143 antibodies

Genome annotation databases

EnsembliENST00000342032; ENSP00000340125; ENSG00000106341 [O96001-1]
ENST00000409146; ENSP00000386459; ENSG00000106341 [O96001-2]
GeneIDi10842
KEGGihsa:10842
UCSCiuc003tcl.4, human [O96001-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		10842
DisGeNETi10842
EuPathDBiHostDB:ENSG00000106341.10

GeneCards: human genes, protein and diseases

More...GeneCardsi		PPP1R17
HGNCiHGNC:16973, PPP1R17
HPAiENSG00000106341, Group enriched (adrenal gland, blood, brain)
MalaCardsiPPP1R17
MIMi604088, gene
neXtProtiNX_O96001
OpenTargetsiENSG00000106341
PharmGKBiPA134908901

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502S50G, Eukaryota
GeneTreeiENSGT00390000005586
HOGENOMiCLU_113768_0_0_1
InParanoidiO96001
OMAiPGVISEH
OrthoDBi904682at2759
PhylomeDBiO96001
TreeFamiTF335928

Enzyme and pathway databases

PathwayCommonsiO96001
SignaLinkiO96001

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		10842, 0 hits in 842 CRISPR screens

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		C7orf16

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

More...GenomeRNAii		10842
PharosiO96001, Tbio

Protein Ontology

More...PROi		PR:O96001
RNActiO96001, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000106341, Expressed in subventricular zone (inner) (primate) and 91 other tissues
ExpressionAtlasiO96001, baseline and differential
GenevisibleiO96001, HS

Family and domain databases

InterProiView protein in InterPro
IPR033242, PPP1R17
PANTHERiPTHR15387, PTHR15387, 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 nameiPPR17_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: O96001
Secondary accession number(s): B4DE58, Q9UDQ0
<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: May 30, 2000
Last sequence update: January 11, 2011
Last modified: December 2, 2020
This is version 139 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

Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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