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Entry version 130 (18 Sep 2019)
Sequence version 1 (01 Oct 2002)
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Protein

BPI fold-containing family B member 6

Gene

BPIFB6

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

Annotation score:3 out of 5

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

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

<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

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6803157 Antimicrobial peptides

<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:
BPI fold-containing family B member 6
Alternative name(s):
Bactericidal/permeability-increasing protein-like 3
<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:BPIFB6
Synonyms:BPIL3
<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 20

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16504 BPIFB6

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614110 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NFQ5

<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

DisGeNET

More...
DisGeNETi
128859

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA25406

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BPIFB6

Domain mapping of disease mutations (DMDM)

More...
DMDMi
34395537

<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 – 18Sequence analysisAdd BLAST18
<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_000001716819 – 453BPI fold-containing family B member 6Add BLAST435

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>Glycosylationi114N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi137 ↔ 174By similarity
Glycosylationi190N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

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

More...
PaxDbi
Q8NFQ5

PeptideAtlas

More...
PeptideAtlasi
Q8NFQ5

PRoteomics IDEntifications database

More...
PRIDEi
Q8NFQ5

ProteomicsDB human proteome resource

More...
ProteomicsDBi
73335

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NFQ5

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

More...
PhosphoSitePlusi
Q8NFQ5

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Detected at very low levels in normal tonsils, and at higher levels in hypertrophic tonsils.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000167104 Expressed in 7 organ(s), highest expression level in minor salivary gland

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8NFQ5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NFQ5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA043057

<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.ENSP00000344929

<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
Q8NFQ5

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

Keywords - Domaini

Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4160 Eukaryota
ENOG410Z88E LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00970000193386

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000231740

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NFQ5

Identification of Orthologs from Complete Genome Data

More...
OMAi
FMGGNME

Database of Orthologous Groups

More...
OrthoDBi
1099604at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NFQ5

TreeFam database of animal gene trees

More...
TreeFami
TF315617

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR017943 Bactericidal_perm-incr_a/b_dom
IPR032948 BPIFB6
IPR001124 Lipid-bd_serum_glycop_C
IPR017942 Lipid-bd_serum_glycop_N

The PANTHER Classification System

More...
PANTHERi
PTHR46019:SF2 PTHR46019:SF2, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01273 LBP_BPI_CETP, 1 hit
PF02886 LBP_BPI_CETP_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00329 BPI2, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF55394 SSF55394, 2 hits

<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>. 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_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 1 potential isoform that is computationally mapped.Show allAlign All

Q8NFQ5-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLRILCLALC SLLTGTRADP GALLRLGMDI MNQVQSAMDE SHILEKMAAE
60 70 80 90 100
AGKKQPGMKP IKGITNLKVK DVQLPVITLN FVPGVGIFQC VSTGMTVTGK
110 120 130 140 150
SFMGGNMEII VALNITATNR LLRDEETGLP VFKSEGCEVI LVNVKTNLPS
160 170 180 190 200
NMLPKMVNKF LDSTLHKVLP GLMCPAIDAV LVYVNRKWTN LSDPMPVGQM
210 220 230 240 250
GTVKYVLMSA PATTASYIQL DFSPVVQQQK GKTIKLADAG EALTFPEGYA
260 270 280 290 300
KGSSQLLLPA TFLSAELALL QKSFHVNIQD TMIGELPPQT TKTLARFIPE
310 320 330 340 350
VAVAYPKSKP LTTQIKIKKP PKVTMKTGKS LLHLHSTLEM FAARWRSKAP
360 370 380 390 400
MSLFLLEVHF NLKVQYSVHE NQLQMATSLD RLLSLSRKSS SIGNFNEREL
410 420 430 440 450
TGFITSYLEE AYIPVVNDVL QVGLPLPDFL AMNYNLAELD IVENALMLDL

KLG
Length:453
Mass (Da):49,717
Last modified:October 1, 2002 - 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:i19379CA22A41CE5C
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H8I3F5H8I3_HUMAN
BPI fold-containing family B member...
BPIFB6
88Annotation 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>

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_03363216T → M. Corresponds to variant dbSNP:rs17301126Ensembl.1
Natural variantiVAR_02451897V → I. Corresponds to variant dbSNP:rs2070317Ensembl.1
Natural variantiVAR_033633149P → T. Corresponds to variant dbSNP:rs11907355Ensembl.1
Natural variantiVAR_065088296R → H De novo variant found in a patient with mental retardation. 1 PublicationCorresponds to variant dbSNP:rs79809934Ensembl.1
Natural variantiVAR_033634347S → G. Corresponds to variant dbSNP:rs4911287Ensembl.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
AF465767 mRNA Translation: AAM73985.1
AL121756 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS13211.1

NCBI Reference Sequences

More...
RefSeqi
NP_777557.1, NM_174897.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000349552; ENSP00000344929; ENSG00000167104

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
128859

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:128859

UCSC genome browser

More...
UCSCi
uc010zuc.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
AF465767 mRNA Translation: AAM73985.1
AL121756 Genomic DNA No translation available.
CCDSiCCDS13211.1
RefSeqiNP_777557.1, NM_174897.2

3D structure databases

SMRiQ8NFQ5
ModBaseiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000344929

PTM databases

iPTMnetiQ8NFQ5
PhosphoSitePlusiQ8NFQ5

Polymorphism and mutation databases

BioMutaiBPIFB6
DMDMi34395537

Proteomic databases

PaxDbiQ8NFQ5
PeptideAtlasiQ8NFQ5
PRIDEiQ8NFQ5
ProteomicsDBi73335

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
128859
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000349552; ENSP00000344929; ENSG00000167104
GeneIDi128859
KEGGihsa:128859
UCSCiuc010zuc.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
128859
DisGeNETi128859

GeneCards: human genes, protein and diseases

More...
GeneCardsi
BPIFB6
HGNCiHGNC:16504 BPIFB6
HPAiHPA043057
MIMi614110 gene
neXtProtiNX_Q8NFQ5
PharmGKBiPA25406

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4160 Eukaryota
ENOG410Z88E LUCA
GeneTreeiENSGT00970000193386
HOGENOMiHOG000231740
InParanoidiQ8NFQ5
OMAiFMGGNME
OrthoDBi1099604at2759
PhylomeDBiQ8NFQ5
TreeFamiTF315617

Enzyme and pathway databases

ReactomeiR-HSA-6803157 Antimicrobial peptides

Miscellaneous databases

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

More...
GenomeRNAii
128859

Pharos

More...
Pharosi
Q8NFQ5

Protein Ontology

More...
PROi
PR:Q8NFQ5

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000167104 Expressed in 7 organ(s), highest expression level in minor salivary gland
ExpressionAtlasiQ8NFQ5 baseline and differential
GenevisibleiQ8NFQ5 HS

Family and domain databases

InterProiView protein in InterPro
IPR017943 Bactericidal_perm-incr_a/b_dom
IPR032948 BPIFB6
IPR001124 Lipid-bd_serum_glycop_C
IPR017942 Lipid-bd_serum_glycop_N
PANTHERiPTHR46019:SF2 PTHR46019:SF2, 1 hit
PfamiView protein in Pfam
PF01273 LBP_BPI_CETP, 1 hit
PF02886 LBP_BPI_CETP_C, 1 hit
SMARTiView protein in SMART
SM00329 BPI2, 1 hit
SUPFAMiSSF55394 SSF55394, 2 hits

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 nameiBPIB6_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: Q8NFQ5
<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 29, 2003
Last sequence update: October 1, 2002
Last modified: September 18, 2019
This is version 130 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 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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