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Entry version 125 (02 Dec 2020)
Sequence version 2 (11 Jan 2011)
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Protein

Methyltransferase-like protein 25

Gene

METTL25

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

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at transcript leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Putative methyltransferase.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

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

Molecular functionMethyltransferase, Transferase

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q8N6Q8

<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:
Methyltransferase-like protein 25 (EC:2.1.1.-)
<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:METTL25
Synonyms:C12orf26
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 12

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...
EuPathDBi
HostDB:ENSG00000127720.7

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26228, METTL25

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N6Q8

<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
84190

Open Targets

More...
OpenTargetsi
ENSG00000127720

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672297

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8N6Q8, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
METTL25

Domain mapping of disease mutations (DMDM)

More...
DMDMi
317373346

<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_00002521481 – 603Methyltransferase-like protein 25Add BLAST603

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8N6Q8

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8N6Q8

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8N6Q8

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8N6Q8

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

More...
PaxDbi
Q8N6Q8

PeptideAtlas

More...
PeptideAtlasi
Q8N6Q8

PRoteomics IDEntifications database

More...
PRIDEi
Q8N6Q8

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
72215

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N6Q8

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

More...
PhosphoSitePlusi
Q8N6Q8

<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
ENSG00000127720, Expressed in stomach and 205 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8N6Q8, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N6Q8, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000127720, Low tissue specificity

<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
123938, 5 interactors

Protein interaction database and analysis system

More...
IntActi
Q8N6Q8, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000248306

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8N6Q8, protein

<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
KOG2651, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00530000063745

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_016581_2_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N6Q8

Identification of Orthologs from Complete Genome Data

More...
OMAi
TLAPCIE

Database of Orthologous Groups

More...
OrthoDBi
1014832at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N6Q8

TreeFam database of animal gene trees

More...
TreeFami
TF312998

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR025714, Methyltranfer_dom
IPR029063, SAM-dependent_MTases

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF13679, Methyltransf_32, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF53335, SSF53335, 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>Sequence (1+)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 has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q8N6Q8-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAASCPLPVT PDLPTLRAKL QGLLQFLRDA LSISNAHTVD FYTESVWEEL
60 70 80 90 100
VDLPPETVLA ALRKSASETE ALPSETRPLV EAEWEAGMTD FPKIFCETSQ
110 120 130 140 150
KLVSVEAFAL AAKYYSVQNL GICTPFEQLL VALRGNQNQR IGENQKAVEF
160 170 180 190 200
MNMKKSHEVQ AMSELISSIA DYYGIKQVID LGSGKGYLSS FLSLKYGLKV
210 220 230 240 250
YGIDSSNTNT HGAEERNRKL KKHWKLCHAQ SRLDVNGLAL KMAKERKVQN
260 270 280 290 300
KVKNKADTEE VFNNSPTNQE KMPTSAILPD FSGSVISNIR NQMETLHSQP
310 320 330 340 350
HQEENLCFEN SFSLINLLPI NAVEPTSSQQ IPNRETSEAN KERRKMTSKS
360 370 380 390 400
SESNIYSPLT SFITADSELH DIIKDLEDCL MVGLHTCGDL APNTLRIFTS
410 420 430 440 450
NSEIKGVCSV GCCYHLLSEE FENQHKERTQ EKWGFPMCHY LKEERWCCGR
460 470 480 490 500
NARMSACLAL ERVAAGQGLP TESLFYRAVL QDIIKDCYGI TKCDRHVGKI
510 520 530 540 550
YSKCSSFLDY VRRSLKKLGL DESKLPEKII MNYYEKYKPR MNELEAFNML
560 570 580 590 600
KVVLAPCIET LILLDRLCYL KEQEDIAWSA LVKLFDPVKS PRCYAVIALK

KQQ
Length:603
Mass (Da):68,213
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:iA2D2C51ABEBF8668
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
H0YIW7H0YIW7_HUMAN
Methyltransferase-like protein 25
METTL25
189Annotation 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>
F8VZA8F8VZA8_HUMAN
Methyltransferase-like protein 25
METTL25
239Annotation 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>
H0YIN2H0YIN2_HUMAN
Methyltransferase-like protein 25
METTL25
143Annotation 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>

<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 BAB15484 differs from that shown. Contaminating sequence. Potential poly-A sequence.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 conflicti85E → V in BAB15484 (PubMed:14702039).Curated1
Sequence conflicti152N → S in BAB15484 (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_027779249Q → K1 PublicationCorresponds to variant dbSNP:rs4296098Ensembl.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
AC083811 Genomic DNA No translation available.
AC089998 Genomic DNA No translation available.
BC029120 mRNA Translation: AAH29120.1
AK026442 mRNA Translation: BAB15484.1 Sequence problems.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS9024.1

NCBI Reference Sequences

More...
RefSeqi
NP_001306604.1, NM_001319675.1
NP_001334863.1, NM_001347934.1
NP_115606.2, NM_032230.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000248306; ENSP00000248306; ENSG00000127720

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
84190

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:84190

UCSC genome browser

More...
UCSCi
uc001szq.4, 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
AC083811 Genomic DNA No translation available.
AC089998 Genomic DNA No translation available.
BC029120 mRNA Translation: AAH29120.1
AK026442 mRNA Translation: BAB15484.1 Sequence problems.
CCDSiCCDS9024.1
RefSeqiNP_001306604.1, NM_001319675.1
NP_001334863.1, NM_001347934.1
NP_115606.2, NM_032230.2

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

More...
SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi123938, 5 interactors
IntActiQ8N6Q8, 5 interactors
STRINGi9606.ENSP00000248306

PTM databases

iPTMnetiQ8N6Q8
PhosphoSitePlusiQ8N6Q8

Polymorphism and mutation databases

BioMutaiMETTL25
DMDMi317373346

Proteomic databases

EPDiQ8N6Q8
jPOSTiQ8N6Q8
MassIVEiQ8N6Q8
MaxQBiQ8N6Q8
PaxDbiQ8N6Q8
PeptideAtlasiQ8N6Q8
PRIDEiQ8N6Q8
ProteomicsDBi72215

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
51966, 82 antibodies

The DNASU plasmid repository

More...
DNASUi
84190

Genome annotation databases

EnsembliENST00000248306; ENSP00000248306; ENSG00000127720
GeneIDi84190
KEGGihsa:84190
UCSCiuc001szq.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
84190
DisGeNETi84190
EuPathDBiHostDB:ENSG00000127720.7

GeneCards: human genes, protein and diseases

More...
GeneCardsi
METTL25
HGNCiHGNC:26228, METTL25
HPAiENSG00000127720, Low tissue specificity
neXtProtiNX_Q8N6Q8
OpenTargetsiENSG00000127720
PharmGKBiPA142672297

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2651, Eukaryota
GeneTreeiENSGT00530000063745
HOGENOMiCLU_016581_2_0_1
InParanoidiQ8N6Q8
OMAiTLAPCIE
OrthoDBi1014832at2759
PhylomeDBiQ8N6Q8
TreeFamiTF312998

Enzyme and pathway databases

PathwayCommonsiQ8N6Q8

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
84190, 11 hits in 842 CRISPR screens

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

More...
ChiTaRSi
METTL25, human

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

More...
GenomeRNAii
84190
PharosiQ8N6Q8, Tdark

Protein Ontology

More...
PROi
PR:Q8N6Q8
RNActiQ8N6Q8, protein

Gene expression databases

BgeeiENSG00000127720, Expressed in stomach and 205 other tissues
ExpressionAtlasiQ8N6Q8, baseline and differential
GenevisibleiQ8N6Q8, HS

Family and domain databases

InterProiView protein in InterPro
IPR025714, Methyltranfer_dom
IPR029063, SAM-dependent_MTases
PfamiView protein in Pfam
PF13679, Methyltransf_32, 1 hit
SUPFAMiSSF53335, SSF53335, 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 nameiMET25_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: Q8N6Q8
Secondary accession number(s): Q9H5Y3
<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: October 3, 2006
Last sequence update: January 11, 2011
Last modified: December 2, 2020
This is version 125 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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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