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UniProtKB - Q96PD6 (MOGT1_HUMAN)

Entry version 120 (22 Apr 2020)
Sequence version 2 (23 Mar 2010)
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Protein

2-acylglycerol O-acyltransferase 1

Gene

MOGAT1

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

Annotation score:4 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

Catalyzes the formation of diacylglycerol from 2-monoacylglycerol and fatty acyl-CoA. Probably not involved in absorption of dietary fat in the small intestine (By similarity).By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section describes the metabolic pathway(s) associated with a protein.<p><a href='/help/pathway' target='_top'>More...</a></p>Pathwayi: triacylglycerol biosynthesis

This protein is involved in the pathway triacylglycerol biosynthesis, which is part of Glycerolipid metabolism.
View all proteins of this organism that are known to be involved in the pathway triacylglycerol biosynthesis and in Glycerolipid metabolism.

<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 functionAcyltransferase, Transferase
Biological processGlycerol metabolism, Lipid biosynthesis, Lipid metabolism

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.3.1.22 2681

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-75109 Triglyceride biosynthesis

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

More...UniPathwayi		UPA00282

<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:
2-acylglycerol O-acyltransferase 1 (EC:2.3.1.22)
Alternative name(s):
Acyl-CoA:monoacylglycerol acyltransferase 1
Short name:
MGAT1
Diacylglycerol O-acyltransferase candidate 2
Short name:
hDC2
Diacylglycerol acyltransferase 2-like protein 1
Monoacylglycerol O-acyltransferase 1
<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:MOGAT1
Synonyms:DC2, DGAT2L1
<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 2

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:18210 MOGAT1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610268 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96PD6

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei18 – 38HelicalSequence analysisAdd BLAST21
Transmembranei40 – 60HelicalSequence analysisAdd BLAST21
Transmembranei132 – 152HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

<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		116255

Open Targets

More...OpenTargetsi		ENSG00000124003

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA27305

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96PD6 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MOGAT1

Domain mapping of disease mutations (DMDM)

More...DMDMi		292495019

<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_00002490581 – 3352-acylglycerol O-acyltransferase 1Add BLAST335

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi121N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi125N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi180N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

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

More...PaxDbi		Q96PD6

PeptideAtlas

More...PeptideAtlasi		Q96PD6

PRoteomics IDEntifications database

More...PRIDEi		Q96PD6

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		77671

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96PD6

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

More...PhosphoSitePlusi		Q96PD6

<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		ENSG00000124003 Expressed in liver and 69 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96PD6 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000124003 Tissue enriched (gallbladder)

<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.ENSP00000406674

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96PD6 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		Q96PD6

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

<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 diacylglycerol acyltransferase family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0831 Eukaryota
ENOG410XTG3 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00950000182761

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_023995_0_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96PD6

KEGG Orthology (KO)

More...KOi		K14458

Identification of Orthologs from Complete Genome Data

More...OMAi		YFDWHTP

Database of Orthologous Groups

More...OrthoDBi		1347007at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96PD6

TreeFam database of animal gene trees

More...TreeFami		TF314707

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR007130 DAGAT

Pfam protein domain database

More...Pfami		View protein in Pfam
PF03982 DAGAT, 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>Sequencei

<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.

Q96PD6-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MKVEFAPLNI QLARRLQTVA VLQWVLKYLL LGPMSIGITV MLIIHNYLFL 
        60         70         80         90        100
YIPYLMWLYF DWHTPERGGR RSSWIKNWTL WKHFKDYFPI HLIKTQDLDP 
       110        120        130        140        150
SHNYIFGFHP HGIMAVGAFG NFSVNYSDFK DLFPGFTSYL HVLPLWFWCP 
       160        170        180        190        200
VFREYVMSVG LVSVSKKSVS YMVSKEGGGN ISVIVLGGAK ESLDAHPGKF 
       210        220        230        240        250
TLFIRQRKGF VKIALTHGAS LVPVVSFGEN ELFKQTDNPE GSWIRTVQNK 
       260        270        280        290        300
LQKIMGFALP LFHARGVFQY NFGLMTYRKA IHTVVGRPIP VRQTLNPTQE 
       310        320        330 
QIEELHQTYM EELRKLFEEH KGKYGIPEHE TLVLK
Length:335
Mass (Da):38,812
Last modified:March 23, 2010 - 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:iA76F13FB34CEE78B
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 AAX81987 differs from that shown. Reason: Erroneous gene model prediction.Curated

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 conflicti27 – 31KYLLL → SFLT in AAK84178 (PubMed:11481335).Curated5

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_05569513A → T. Corresponds to variant dbSNP:rs35959734Ensembl.1
Natural variantiVAR_027389163S → P. Corresponds to variant dbSNP:rs1868024Ensembl.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
AF384163 mRNA Translation: AAK84178.1
AC104772 Genomic DNA Translation: AAX81987.1 Sequence problems.
BN000154 mRNA Translation: CAD89265.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS46524.1

NCBI Reference Sequences

More...RefSeqi		NP_477513.2, NM_058165.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000446656; ENSP00000406674; ENSG00000124003

Database of genes from NCBI RefSeq genomes

More...GeneIDi		116255

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:116255

UCSC genome browser

More...UCSCi		uc010fws.2 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF384163 mRNA Translation: AAK84178.1
AC104772 Genomic DNA Translation: AAX81987.1 Sequence problems.
BN000154 mRNA Translation: CAD89265.1
CCDSiCCDS46524.1
RefSeqiNP_477513.2, NM_058165.2

3D structure databases

SMRiQ96PD6
ModBaseiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000406674

PTM databases

iPTMnetiQ96PD6
PhosphoSitePlusiQ96PD6

Polymorphism and mutation databases

BioMutaiMOGAT1
DMDMi292495019

Proteomic databases

PaxDbiQ96PD6
PeptideAtlasiQ96PD6
PRIDEiQ96PD6
ProteomicsDBi77671

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		34362 104 antibodies

The DNASU plasmid repository

More...DNASUi		116255

Genome annotation databases

EnsembliENST00000446656; ENSP00000406674; ENSG00000124003
GeneIDi116255
KEGGihsa:116255
UCSCiuc010fws.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		116255
DisGeNETi116255

GeneCards: human genes, protein and diseases

More...GeneCardsi		MOGAT1
HGNCiHGNC:18210 MOGAT1
HPAiENSG00000124003 Tissue enriched (gallbladder)
MIMi610268 gene
neXtProtiNX_Q96PD6
OpenTargetsiENSG00000124003
PharmGKBiPA27305

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0831 Eukaryota
ENOG410XTG3 LUCA
GeneTreeiENSGT00950000182761
HOGENOMiCLU_023995_0_1_1
InParanoidiQ96PD6
KOiK14458
OMAiYFDWHTP
OrthoDBi1347007at2759
PhylomeDBiQ96PD6
TreeFamiTF314707

Enzyme and pathway databases

UniPathwayiUPA00282
BRENDAi2.3.1.22 2681
ReactomeiR-HSA-75109 Triglyceride biosynthesis

Miscellaneous databases

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

More...ChiTaRSi		MOGAT1 human

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

More...GenomeRNAii		116255
PharosiQ96PD6 Tbio

Protein Ontology

More...PROi		PR:Q96PD6
RNActiQ96PD6 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000124003 Expressed in liver and 69 other tissues
GenevisibleiQ96PD6 HS

Family and domain databases

InterProiView protein in InterPro
IPR007130 DAGAT
PfamiView protein in Pfam
PF03982 DAGAT, 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 nameiMOGT1_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: Q96PD6
Secondary accession number(s): Q6IEE5
<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: September 5, 2006
Last sequence update: March 23, 2010
Last modified: April 22, 2020
This is version 120 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 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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