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Entry version 105 (13 Feb 2019)
Sequence version 1 (05 Jul 2004)
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Protein

Jhy protein homolog

Gene

JHY

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

Annotation score:2 out of 5

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

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

Required for the normal development of cilia in brain ependymal cells lining the ventricular surfaces.By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

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

Biological processCilium biogenesis/degradation

<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:
Jhy protein homolog
<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:JHYImported
Synonyms:C11orf63
<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 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000109944.10

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26288 JHY

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
617594 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6NUN7

<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
ENSG00000109944

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA143485358

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
C11orf63

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74736827

<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_00002807641 – 778Jhy protein homologAdd BLAST778

Proteomic databases

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

More...
PaxDbi
Q6NUN7

PeptideAtlas

More...
PeptideAtlasi
Q6NUN7

PRoteomics IDEntifications database

More...
PRIDEi
Q6NUN7

ProteomicsDB human proteome resource

More...
ProteomicsDBi
66694
66695 [Q6NUN7-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6NUN7

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

More...
PhosphoSitePlusi
Q6NUN7

<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
ENSG00000109944 Expressed in 138 organ(s), highest expression level in testis

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6NUN7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA039612
HPA040344
HPA077658
HPA077748

<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
122952, 4 interactors

Protein interaction database and analysis system

More...
IntActi
Q6NUN7, 3 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
Q6NUN7

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

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IH42 Eukaryota
ENOG410XX5X LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000002823

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000013118

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG081220

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6NUN7

Identification of Orthologs from Complete Genome Data

More...
OMAi
TQIMEQH

Database of Orthologous Groups

More...
OrthoDBi
1114555at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6NUN7

TreeFam database of animal gene trees

More...
TreeFami
TF335473

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR027968 JHY

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15261 JHY, 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 (2)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 2 <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
Isoform 1 (identifier: Q6NUN7-1) [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
MSKRKLIPKL SIQSPVLHTN LNVQSTHPPL KKEDLHRISK DSLESDSESL
60 70 80 90 100
TQEIMCHSEF DDRIRGNGME PDSLDEEESP RWGSLHEMEE EASGKAAQMA
110 120 130 140 150
REQNHHTWDQ GANNRQQPIE DKYSDLRYDP NWKSKKEEGQ LLSVEALPES
160 170 180 190 200
TDSSLENLPL APLYPSQETS MELSGGKGEQ KESPQSAASL LGSEFLSPNY
210 220 230 240 250
EHGARRSKPF SELSDSDLEE KSSSLSPYVK SSSSHNEVFL PGSRGPRRRK
260 270 280 290 300
SKQHFVEKNK LTLGLPTPKT DSYLQLHNKK RGESHPEQIS YPVRVTDKTS
310 320 330 340 350
IQNAKEMENA AIDPEDKWHQ RAQQLKNYQE HWSQYESTKS SNVPRGQPSD
360 370 380 390 400
MVNDHQPSRR PAKLKIRKQC KHQNGLKSST TEEVTASQGN QNNPPRQQQN
410 420 430 440 450
QNKPLDTSTK PESIVIMHAS NNDVQASRAL RSHNLKETSN TFAPPKQAFD
460 470 480 490 500
KVLSKNSTGC DSGLNVNKER GHKDQEEKRF SYQQLHTLSD MDLNNLNELS
510 520 530 540 550
KRHVLLSQKG SQFVYHINTH GSTKNKKQLK QPYTETKYRN LEMLWKFHSS
560 570 580 590 600
SDSQTVRASP DSWLTQIMEQ HQQALVQLTD VQPSEGALSS VTLPPILSRV
610 620 630 640 650
ESESQLSSER SQRNQVKISR SNSEGYLFQL EKGKKHKKRS SSKNTKLKGY
660 670 680 690 700
QKRDVKLGGL GPDFESIRDK TQKLIQQKEY AKQVKEYNMK TLSILSKPQT
710 720 730 740 750
EKTQKKSAIP RQKALEYAKT IPKPKPSNLT HQASKEQKNP TYAGKEESLP
760 770
EISLLEILQN RHEREKQAVA AFKVLHIV
Length:778
Mass (Da):88,569
Last modified:July 5, 2004 - 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:i200CB1C2263524FE
GO
Isoform 2 (identifier: Q6NUN7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     289-307: ISYPVRVTDKTSIQNAKEM → VILRVNSLPRDGFKTFWSQ
     308-778: Missing.

Show »
Length:307
Mass (Da):34,771
Checksum:iE0C6DEC1BED8F070
GO

<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 AAH09820 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB15691 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti295V → A in BAB15691 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_050863486H → R. Corresponds to variant dbSNP:rs33999612Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_023915289 – 307ISYPV…NAKEM → VILRVNSLPRDGFKTFWSQ in isoform 2. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_023916308 – 778Missing in isoform 2. 1 PublicationAdd BLAST471

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
AK027207 mRNA Translation: BAB15691.1 Different initiation.
AK291625 mRNA Translation: BAF84314.1
CH471065 Genomic DNA Translation: EAW67533.1
BC009820 mRNA Translation: AAH09820.2 Different initiation.
BC068507 mRNA Translation: AAH68507.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS8438.1 [Q6NUN7-1]
CCDS8439.1 [Q6NUN7-2]

NCBI Reference Sequences

More...
RefSeqi
NP_079082.2, NM_024806.3 [Q6NUN7-1]
NP_954575.1, NM_199124.2 [Q6NUN7-2]
XP_005271737.1, XM_005271680.4
XP_011541311.1, XM_011543009.2 [Q6NUN7-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.164705

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000227349; ENSP00000227349; ENSG00000109944 [Q6NUN7-1]
ENST00000307257; ENSP00000307695; ENSG00000109944 [Q6NUN7-2]
ENST00000531316; ENSP00000431669; ENSG00000109944 [Q6NUN7-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
79864

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:79864

UCSC genome browser

More...
UCSCi
uc001pyl.3 human [Q6NUN7-1]

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
AK027207 mRNA Translation: BAB15691.1 Different initiation.
AK291625 mRNA Translation: BAF84314.1
CH471065 Genomic DNA Translation: EAW67533.1
BC009820 mRNA Translation: AAH09820.2 Different initiation.
BC068507 mRNA Translation: AAH68507.1
CCDSiCCDS8438.1 [Q6NUN7-1]
CCDS8439.1 [Q6NUN7-2]
RefSeqiNP_079082.2, NM_024806.3 [Q6NUN7-1]
NP_954575.1, NM_199124.2 [Q6NUN7-2]
XP_005271737.1, XM_005271680.4
XP_011541311.1, XM_011543009.2 [Q6NUN7-1]
UniGeneiHs.164705

3D structure databases

ProteinModelPortaliQ6NUN7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122952, 4 interactors
IntActiQ6NUN7, 3 interactors

PTM databases

iPTMnetiQ6NUN7
PhosphoSitePlusiQ6NUN7

Polymorphism and mutation databases

BioMutaiC11orf63
DMDMi74736827

Proteomic databases

PaxDbiQ6NUN7
PeptideAtlasiQ6NUN7
PRIDEiQ6NUN7
ProteomicsDBi66694
66695 [Q6NUN7-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000227349; ENSP00000227349; ENSG00000109944 [Q6NUN7-1]
ENST00000307257; ENSP00000307695; ENSG00000109944 [Q6NUN7-2]
ENST00000531316; ENSP00000431669; ENSG00000109944 [Q6NUN7-1]
GeneIDi79864
KEGGihsa:79864
UCSCiuc001pyl.3 human [Q6NUN7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
79864
EuPathDBiHostDB:ENSG00000109944.10

GeneCards: human genes, protein and diseases

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GeneCardsi
JHY
HGNCiHGNC:26288 JHY
HPAiHPA039612
HPA040344
HPA077658
HPA077748
MIMi617594 gene
neXtProtiNX_Q6NUN7
OpenTargetsiENSG00000109944
PharmGKBiPA143485358

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IH42 Eukaryota
ENOG410XX5X LUCA
GeneTreeiENSGT00390000002823
HOGENOMiHOG000013118
HOVERGENiHBG081220
InParanoidiQ6NUN7
OMAiTQIMEQH
OrthoDBi1114555at2759
PhylomeDBiQ6NUN7
TreeFamiTF335473

Miscellaneous databases

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

More...
ChiTaRSi
C11orf63 human

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

More...
GenomeRNAii
79864

Protein Ontology

More...
PROi
PR:Q6NUN7

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000109944 Expressed in 138 organ(s), highest expression level in testis
GenevisibleiQ6NUN7 HS

Family and domain databases

InterProiView protein in InterPro
IPR027968 JHY
PfamiView protein in Pfam
PF15261 JHY, 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 nameiJHY_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: Q6NUN7
Secondary accession number(s): A8K6G0, Q96GB5, Q9H5D6
<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: March 20, 2007
Last sequence update: July 5, 2004
Last modified: February 13, 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. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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
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