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Entry version 105 (16 Oct 2019)
Sequence version 1 (01 Oct 2002)
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Protein

Fibrous sheath-interacting protein 1

Gene

FSIP1

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:
Fibrous sheath-interacting protein 1
<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:FSIP1
ORF Names:HSD10
<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 15

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:21674 FSIP1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
615795 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8NA03

<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
161835

Open Targets

More...
OpenTargetsi
ENSG00000150667

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671750

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8NA03

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FSIP1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74729808

<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_00003149181 – 581Fibrous sheath-interacting protein 1Add BLAST581

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei87PhosphoserineBy similarity1

<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 - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8NA03

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8NA03

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8NA03

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

More...
PaxDbi
Q8NA03

PeptideAtlas

More...
PeptideAtlasi
Q8NA03

PRoteomics IDEntifications database

More...
PRIDEi
Q8NA03

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
72621

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8NA03

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

More...
PhosphoSitePlusi
Q8NA03

<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
ENSG00000150667 Expressed in 93 organ(s), highest expression level in mucosa of transverse colon

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8NA03 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8NA03 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA041002

<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
127805, 3 interactors

Protein interaction database and analysis system

More...
IntActi
Q8NA03, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000280236

<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

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili105 – 153Sequence analysisAdd BLAST49

<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 FSIP1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410J06C Eukaryota
ENOG41120JM LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000013879

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000112659

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8NA03

Identification of Orthologs from Complete Genome Data

More...
OMAi
NSGKEGH

Database of Orthologous Groups

More...
OrthoDBi
608640at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8NA03

TreeFam database of animal gene trees

More...
TreeFami
TF351151

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026246 Fsip1

The PANTHER Classification System

More...
PANTHERi
PTHR22012 PTHR22012, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15554 FSIP1, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR02075 FIBSHEATHIP1

<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.

This entry has 1 described isoform and 3 potential isoforms that are computationally mapped.Show allAlign All

Q8NA03-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDIIKGNLDG ISKPASNSRI RPGSRSSNAS LEVLSTEPGS FKVDTASNLN
60 70 80 90 100
SGKEDHSESS NTENRRTSND DKQESCSEKI KLAEEGSDED LDLVQHQIIS
110 120 130 140 150
ECSDEPKLKE LDSQLQDAIQ KMKKLDKILA KKQRREKEIK KQGLEMRIKL
160 170 180 190 200
WEEIKSAKYS EAWQSKEEME NTKKFLSLTA VSEETVGPSH EEEDTFSSVF
210 220 230 240 250
HTQIPPEEYE MQMQKLNKDF TCDVERNESL IKSGKKPFSN TEKIELRGKH
260 270 280 290 300
NQDFIKRNIE LAKESRNPVV MVDREKKRLV ELLKDLDEKD SGLSSSEGDQ
310 320 330 340 350
SGWVVPVKGY ELAVTQHQQL AEIDIKLQEL SAASPTISSF SPRLENRNNQ
360 370 380 390 400
KPDRDGERNM EVTPGEKILR NTKEQRDLHN RLREIDEKLK MMKENVLEST
410 420 430 440 450
SCLSEEQLKC LLDECILKQK SIIKLSSERK KEDIEDVTPV FPQLSRSIIS
460 470 480 490 500
KLLNESETKV QKTEVEDADM LESEECEASK GYYLTKALTG HNMSEALVTE
510 520 530 540 550
AENMKCLQFS KDVIISDTKD YFMSKTLGIG RLKRPSFLDD PLYGISVSLS
560 570 580
SEDQHLKLSS PENTIADEQE TKDAAEECKE P
Length:581
Mass (Da):66,121
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:i979A8B4DE2177C74
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
A0A2R8YHB5A0A2R8YHB5_HUMAN
Fibrous sheath-interacting protein ...
FSIP1
185Annotation 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>
H0YNV9H0YNV9_HUMAN
Fibrous sheath-interacting protein ...
FSIP1
15Annotation 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>
A0A2R8Y503A0A2R8Y503_HUMAN
Fibrous sheath-interacting protein ...
FSIP1
15Annotation 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 conflicti75S → R in AAP20066 (Ref. 1) Curated1
Sequence conflicti574A → G in AAP20066 (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_03812464N → D. Corresponds to variant dbSNP:rs1166719Ensembl.1
Natural variantiVAR_038125354R → H1 PublicationCorresponds to variant dbSNP:rs937961Ensembl.1
Natural variantiVAR_038126374E → G. Corresponds to variant dbSNP:rs16969673Ensembl.1
Natural variantiVAR_038127402C → R1 PublicationCorresponds to variant dbSNP:rs10152640Ensembl.1
Natural variantiVAR_038128411L → F. Corresponds to variant dbSNP:rs12908846Ensembl.1
Natural variantiVAR_038129528G → A. Corresponds to variant dbSNP:rs16969386Ensembl.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
AY260140 mRNA Translation: AAP20066.1
AK093308 mRNA Translation: BAC04128.1
CH471125 Genomic DNA Translation: EAW92382.1
BC045191 mRNA Translation: AAH45191.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS10050.1

NCBI Reference Sequences

More...
RefSeqi
NP_001311267.1, NM_001324338.1
NP_689810.3, NM_152597.4
XP_011519607.1, XM_011521305.2
XP_011519608.1, XM_011521306.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000350221; ENSP00000280236; ENSG00000150667

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
161835

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:161835

UCSC genome browser

More...
UCSCi
uc001zki.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
AY260140 mRNA Translation: AAP20066.1
AK093308 mRNA Translation: BAC04128.1
CH471125 Genomic DNA Translation: EAW92382.1
BC045191 mRNA Translation: AAH45191.1
CCDSiCCDS10050.1
RefSeqiNP_001311267.1, NM_001324338.1
NP_689810.3, NM_152597.4
XP_011519607.1, XM_011521305.2
XP_011519608.1, XM_011521306.1

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

BioGridi127805, 3 interactors
IntActiQ8NA03, 2 interactors
STRINGi9606.ENSP00000280236

PTM databases

iPTMnetiQ8NA03
PhosphoSitePlusiQ8NA03

Polymorphism and mutation databases

BioMutaiFSIP1
DMDMi74729808

Proteomic databases

EPDiQ8NA03
MassIVEiQ8NA03
MaxQBiQ8NA03
PaxDbiQ8NA03
PeptideAtlasiQ8NA03
PRIDEiQ8NA03
ProteomicsDBi72621

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
161835

Genome annotation databases

EnsembliENST00000350221; ENSP00000280236; ENSG00000150667
GeneIDi161835
KEGGihsa:161835
UCSCiuc001zki.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
161835
DisGeNETi161835

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FSIP1
HGNCiHGNC:21674 FSIP1
HPAiHPA041002
MIMi615795 gene
neXtProtiNX_Q8NA03
OpenTargetsiENSG00000150667
PharmGKBiPA142671750

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410J06C Eukaryota
ENOG41120JM LUCA
GeneTreeiENSGT00390000013879
HOGENOMiHOG000112659
InParanoidiQ8NA03
OMAiNSGKEGH
OrthoDBi608640at2759
PhylomeDBiQ8NA03
TreeFamiTF351151

Miscellaneous databases

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

More...
ChiTaRSi
FSIP1 human

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

More...
GenomeRNAii
161835
PharosiQ8NA03

Protein Ontology

More...
PROi
PR:Q8NA03

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000150667 Expressed in 93 organ(s), highest expression level in mucosa of transverse colon
ExpressionAtlasiQ8NA03 baseline and differential
GenevisibleiQ8NA03 HS

Family and domain databases

InterProiView protein in InterPro
IPR026246 Fsip1
PANTHERiPTHR22012 PTHR22012, 1 hit
PfamiView protein in Pfam
PF15554 FSIP1, 1 hit
PRINTSiPR02075 FIBSHEATHIP1

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 nameiFSIP1_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: Q8NA03
Secondary accession number(s): Q6X2C8, Q86Y89
<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: January 15, 2008
Last sequence update: October 1, 2002
Last modified: October 16, 2019
This is version 105 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 15
    Human chromosome 15: 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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