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Entry version 121 (10 Apr 2019)
Sequence version 1 (01 Dec 2001)
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Protein

NXPE family member 3

Gene

NXPE3

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:
NXPE family member 3
Alternative name(s):
Protein FAM55C
<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:NXPE3
Synonyms:FAM55C
ORF Names:MSTP115, UNQ5791/PRO19596
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000144815.14

Human Gene Nomenclature Database

More...
HGNCi
HGNC:28238 NXPE3

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q969Y0

<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

<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 - Cellular componenti

Secreted

<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
ENSG00000144815

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134977295

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
NXPE3

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74731068

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 30Sequence analysisAdd BLAST30
<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_000029759431 – 559NXPE family member 3Add BLAST529

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">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>Glycosylationi237N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi292N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi346N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q969Y0

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q969Y0

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

More...
PaxDbi
Q969Y0

PeptideAtlas

More...
PeptideAtlasi
Q969Y0

PRoteomics IDEntifications database

More...
PRIDEi
Q969Y0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
75876

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q969Y0

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

More...
PhosphoSitePlusi
Q969Y0

<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
ENSG00000144815 Expressed in 191 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q969Y0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q969Y0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA036259

<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)

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BioGridi
124878, 18 interactors

Protein interaction database and analysis system

More...
IntActi
Q969Y0, 4 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000396421

<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
Q969Y0

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

<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 NXPE family.Curated

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IFPX Eukaryota
ENOG410XTHH LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000182866

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000013013

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG107149

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q969Y0

Identification of Orthologs from Complete Genome Data

More...
OMAi
QWQVPDV

Database of Orthologous Groups

More...
OrthoDBi
389418at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q969Y0

TreeFam database of animal gene trees

More...
TreeFami
TF329555

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR014756 Ig_E-set
IPR026845 NXPH/NXPE

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF06312 Neurexophilin, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF81296 SSF81296, 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>Sequence (1+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q969Y0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MWTNFFKLRL FCCLLAVLMV VVLVINVTQV EYLDHETVSA TFIDSSGQFV
60 70 80 90 100
SSQVTGISRN PYCGYDQQTL SSQERMEEDS LLAALHRQVP DVGPVPFVKS
110 120 130 140 150
TDPSSSYFVI LNSAAFFKVG SQLEVLVHVQ DFQRKPKKYG GDYLQARIHS
160 170 180 190 200
LKLQAGAVGR VVDYQNGFYK VFFTLLWPGK VKVSVSLVHP SEGIRVLQRL
210 220 230 240 250
QEDKPDRVYF KSLFRSGRIS ETTECNVCLP GNLPLCNFTD LYTGEPWFCF
260 270 280 290 300
KPKKLPCSSR ITHFKGGYLK GLLTAAESAF FQSGVNIKMP VNSSGPDWVT
310 320 330 340 350
VIPRRIKETN SLELSQGSGT FPSGYYYKDQ WRPRKFKMRQ FNDPDNITEC
360 370 380 390 400
LQRKVVHLFG DSTIRQWFEY LTTFVPDLVE FNLGSPKNVG PFLAVDQKHN
410 420 430 440 450
ILLKYRCHGP PIRFTTVFSN ELHYVANELN GIVGGKNTVV AIAVWSHFST
460 470 480 490 500
FPLEVYIRRL RNIRRAVVRL LDRSPKTVVV IRTANAQELG PEVSLFNSDW
510 520 530 540 550
YNFQLDTILR RMFSGVGVYL VDAWEMTLAH YLPHKLHPDE VIVKNQLDMF

LSFVCPLET
Length:559
Mass (Da):63,800
Last modified:December 1, 2001 - v1
<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:i56264FEEBFBCF358
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9K0A9C9K0A9_HUMAN
NXPE family member 3
NXPE3
53Annotation 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>
A0A087WTR2A0A087WTR2_HUMAN
NXPE family member 3
NXPE3
89Annotation 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 AAQ13637 differs from that shown. Reason: Frameshift at position 345.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_049024507T → I. Corresponds to variant dbSNP:rs3796277Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY358207 mRNA Translation: AAQ88574.1
AK054664 mRNA Translation: BAB70787.1
AK289689 mRNA Translation: BAF82378.1
CH471052 Genomic DNA Translation: EAW79774.1
CH471052 Genomic DNA Translation: EAW79775.1
BC009431 mRNA Translation: AAH09431.1
AF173890 mRNA Translation: AAQ13637.1 Frameshift.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2945.1

NCBI Reference Sequences

More...
RefSeqi
NP_001127928.1, NM_001134456.1
NP_659474.1, NM_145037.2

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.595933

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000273347; ENSP00000273347; ENSG00000144815
ENST00000477909; ENSP00000418369; ENSG00000144815
ENST00000491511; ENSP00000417485; ENSG00000144815

Database of genes from NCBI RefSeq genomes

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GeneIDi
91775

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:91775

UCSC genome browser

More...
UCSCi
uc003dvn.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
AY358207 mRNA Translation: AAQ88574.1
AK054664 mRNA Translation: BAB70787.1
AK289689 mRNA Translation: BAF82378.1
CH471052 Genomic DNA Translation: EAW79774.1
CH471052 Genomic DNA Translation: EAW79775.1
BC009431 mRNA Translation: AAH09431.1
AF173890 mRNA Translation: AAQ13637.1 Frameshift.
CCDSiCCDS2945.1
RefSeqiNP_001127928.1, NM_001134456.1
NP_659474.1, NM_145037.2
UniGeneiHs.595933

3D structure databases

ProteinModelPortaliQ969Y0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124878, 18 interactors
IntActiQ969Y0, 4 interactors
STRINGi9606.ENSP00000396421

PTM databases

iPTMnetiQ969Y0
PhosphoSitePlusiQ969Y0

Polymorphism and mutation databases

BioMutaiNXPE3
DMDMi74731068

Proteomic databases

EPDiQ969Y0
MaxQBiQ969Y0
PaxDbiQ969Y0
PeptideAtlasiQ969Y0
PRIDEiQ969Y0
ProteomicsDBi75876

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
91775
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000273347; ENSP00000273347; ENSG00000144815
ENST00000477909; ENSP00000418369; ENSG00000144815
ENST00000491511; ENSP00000417485; ENSG00000144815
GeneIDi91775
KEGGihsa:91775
UCSCiuc003dvn.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
91775
EuPathDBiHostDB:ENSG00000144815.14

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NXPE3
HGNCiHGNC:28238 NXPE3
HPAiHPA036259
neXtProtiNX_Q969Y0
OpenTargetsiENSG00000144815
PharmGKBiPA134977295

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFPX Eukaryota
ENOG410XTHH LUCA
GeneTreeiENSGT00950000182866
HOGENOMiHOG000013013
HOVERGENiHBG107149
InParanoidiQ969Y0
OMAiQWQVPDV
OrthoDBi389418at2759
PhylomeDBiQ969Y0
TreeFamiTF329555

Miscellaneous databases

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

More...
ChiTaRSi
NXPE3 human

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

More...
GenomeRNAii
91775

Protein Ontology

More...
PROi
PR:Q969Y0

Gene expression databases

BgeeiENSG00000144815 Expressed in 191 organ(s), highest expression level in corpus callosum
ExpressionAtlasiQ969Y0 baseline and differential
GenevisibleiQ969Y0 HS

Family and domain databases

InterProiView protein in InterPro
IPR014756 Ig_E-set
IPR026845 NXPH/NXPE
PfamiView protein in Pfam
PF06312 Neurexophilin, 1 hit
SUPFAMiSSF81296 SSF81296, 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 nameiNXPE3_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: Q969Y0
Secondary accession number(s): A8K0X4, D3DN53, Q7Z2S8
<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: August 21, 2007
Last sequence update: December 1, 2001
Last modified: April 10, 2019
This is version 121 of the entry and version 1 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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