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Protein

Cilia- and flagella-associated protein 299

Gene

CFAP299

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:
Cilia- and flagella-associated protein 299Curated
<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:CFAP299Imported
Synonyms:C4orf22Imported
<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 4

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000197826.11

Human Gene Nomenclature Database

More...
HGNCi
HGNC:28554 CFAP299

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6V702

<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
255119

Open Targets

More...
OpenTargetsi
ENSG00000197826

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA145008853

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
C4orf22

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439464

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003019551 – 233Cilia- and flagella-associated protein 299Add BLAST233

Proteomic databases

PeptideAtlas

More...
PeptideAtlasi
Q6V702

PRoteomics IDEntifications database

More...
PRIDEi
Q6V702

ProteomicsDB human proteome resource

More...
ProteomicsDBi
67716
67717 [Q6V702-1]
67718 [Q6V702-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6V702

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

More...
PhosphoSitePlusi
Q6V702

<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
ENSG00000197826 Expressed in 87 organ(s), highest expression level in testis

CleanEx database of gene expression profiles

More...
CleanExi
HS_C4orf22

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6V702 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6V702 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA043383

<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
129077, 2 interactors

<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
Q6V702

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q6V702

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

Phylogenomic databases

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000016547

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000255608

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG098178

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6V702

Identification of Orthologs from Complete Genome Data

More...
OMAi
DIVFYDW

Database of Orthologous Groups

More...
OrthoDBi
EOG091G0HDS

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6V702

TreeFam database of animal gene trees

More...
TreeFami
TF323286

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR027887 DUF4464

The PANTHER Classification System

More...
PANTHERi
PTHR33588 PTHR33588, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14713 DUF4464, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

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

Isoform 2 (identifier: Q6V702-2) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MDQEEGLKAL DNIVTQFNAY EDFLDSQITT VDLYYLEDET LARQLVELGY
60 70 80 90 100
RGTGERVKRE DFEARKAAIE IARLAERAQQ KTLTSAGKDL QDNFLTALAM
110 120 130 140 150
REEDNRSGKL SSVIFIRDRN SHGQEISGYI DYAHRLKTED FEVYFTGKKR
160 170 180 190 200
LLPRPTDISF YNWDADIAVS NSSPNYQVIA DNPEGLLFRY KRDRKILNVD
210 220 230
PKAQPGDNST RITILTELYV QAVIFDHISR RKT
Length:233
Mass (Da):26,869
Last modified:May 18, 2010 - v4
<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:iD57F4BA59DDC2D65
GO
Isoform 1 (identifier: Q6V702-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     111-111: S → SLNQQETDAAHILKKQLA

Show »
Length:250
Mass (Da):28,772
Checksum:i54FBA8623174E3C0
GO
Isoform 3 (identifier: Q6V702-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     112-156: SVIFIRDRNS...GKKRLLPRPT → AGVQWHHLGS...PPHPVRDLYS
     157-233: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:156
Mass (Da):17,763
Checksum:i60983A5B774ADDE5
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
G5E9Y8G5E9Y8_HUMAN
Cilia and flagella-associated prote...
CFAP299 MGC35043, hCG_2027547
156Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EPK2E7EPK2_HUMAN
Cilia- and flagella-associated prot...
CFAP299
86Annotation 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>
A0A087WX50A0A087WX50_HUMAN
Cilia- and flagella-associated prot...
CFAP299
75Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti68A → V in AAQ56723 (Ref. 1) Curated1
Sequence conflicti119R → G in AAQ56723 (Ref. 1) Curated1
Isoform 1 (identifier: Q6V702-1)
Sequence conflicti122I → T in AAQ56723 (Ref. 1) 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_034913138T → M. Corresponds to variant dbSNP:rs11947742Ensembl.1
Natural variantiVAR_034914220V → I3 PublicationsCorresponds to variant dbSNP:rs1052325Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_037233111S → SLNQQETDAAHILKKQLA in isoform 1. 1 Publication1
Alternative sequenceiVSP_037234112 – 156SVIFI…LPRPT → AGVQWHHLGSLQPLPPGFKE FSCFSLPSGWDYRHAPPHPV RDLYS in isoform 3. 1 PublicationAdd BLAST45
Alternative sequenceiVSP_037235157 – 233Missing in isoform 3. 1 PublicationAdd BLAST77

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY349359 mRNA Translation: AAQ56723.1
AK128642 mRNA Translation: BAC87545.1
AC021127 Genomic DNA No translation available.
AC093876 Genomic DNA No translation available.
AC093883 Genomic DNA No translation available.
AC098822 Genomic DNA No translation available.
AC105917 Genomic DNA No translation available.
CH471057 Genomic DNA Translation: EAX05864.1
BC034296 mRNA Translation: AAH34296.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS3587.1 [Q6V702-2]
CCDS56336.1 [Q6V702-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001193926.1, NM_001206997.1 [Q6V702-1]
NP_689983.2, NM_152770.2 [Q6V702-2]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.527104

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000358105; ENSP00000350818; ENSG00000197826 [Q6V702-2]
ENST00000508675; ENSP00000425786; ENSG00000197826 [Q6V702-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
255119

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:255119

UCSC genome browser

More...
UCSCi
uc003hmf.3 human [Q6V702-2]

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

Alternative splicing, Polymorphism

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY349359 mRNA Translation: AAQ56723.1
AK128642 mRNA Translation: BAC87545.1
AC021127 Genomic DNA No translation available.
AC093876 Genomic DNA No translation available.
AC093883 Genomic DNA No translation available.
AC098822 Genomic DNA No translation available.
AC105917 Genomic DNA No translation available.
CH471057 Genomic DNA Translation: EAX05864.1
BC034296 mRNA Translation: AAH34296.1
CCDSiCCDS3587.1 [Q6V702-2]
CCDS56336.1 [Q6V702-1]
RefSeqiNP_001193926.1, NM_001206997.1 [Q6V702-1]
NP_689983.2, NM_152770.2 [Q6V702-2]
UniGeneiHs.527104

3D structure databases

ProteinModelPortaliQ6V702
SMRiQ6V702
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129077, 2 interactors

PTM databases

iPTMnetiQ6V702
PhosphoSitePlusiQ6V702

Polymorphism and mutation databases

BioMutaiC4orf22
DMDMi296439464

Proteomic databases

PeptideAtlasiQ6V702
PRIDEiQ6V702
ProteomicsDBi67716
67717 [Q6V702-1]
67718 [Q6V702-3]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
255119
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000358105; ENSP00000350818; ENSG00000197826 [Q6V702-2]
ENST00000508675; ENSP00000425786; ENSG00000197826 [Q6V702-1]
GeneIDi255119
KEGGihsa:255119
UCSCiuc003hmf.3 human [Q6V702-2]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
255119
DisGeNETi255119
EuPathDBiHostDB:ENSG00000197826.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
CFAP299
HGNCiHGNC:28554 CFAP299
HPAiHPA043383
neXtProtiNX_Q6V702
OpenTargetsiENSG00000197826
PharmGKBiPA145008853

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

GeneTreeiENSGT00390000016547
HOGENOMiHOG000255608
HOVERGENiHBG098178
InParanoidiQ6V702
OMAiDIVFYDW
OrthoDBiEOG091G0HDS
PhylomeDBiQ6V702
TreeFamiTF323286

Miscellaneous databases

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

More...
ChiTaRSi
C4orf22 human

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

More...
GenomeRNAii
255119

Protein Ontology

More...
PROi
PR:Q6V702

Gene expression databases

BgeeiENSG00000197826 Expressed in 87 organ(s), highest expression level in testis
CleanExiHS_C4orf22
ExpressionAtlasiQ6V702 baseline and differential
GenevisibleiQ6V702 HS

Family and domain databases

InterProiView protein in InterPro
IPR027887 DUF4464
PANTHERiPTHR33588 PTHR33588, 1 hit
PfamiView protein in Pfam
PF14713 DUF4464, 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 nameiCF299_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: Q6V702
Secondary accession number(s): E7EQ13, Q6ZQY4, Q8N4G9
<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: September 11, 2007
Last sequence update: May 18, 2010
Last modified: December 5, 2018
This is version 92 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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