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Q9BX82

- ZN471_HUMAN

UniProt

Q9BX82 - ZN471_HUMAN

Protein

Zinc finger protein 471

Gene

ZNF471

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 123 (01 Oct 2014)
      Sequence version 1 (01 Jun 2001)
      Previous versions | rss
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    Functioni

    May be involved in transcriptional regulation.

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri206 – 22823C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri234 – 25623C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri262 – 28423C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri290 – 31223C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri318 – 34023C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri346 – 36924C2H2-type 6PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri375 – 39723C2H2-type 7PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri403 – 42523C2H2-type 8PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri431 – 45323C2H2-type 9PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri459 – 48123C2H2-type 10PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri487 – 50923C2H2-type 11PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri515 – 53723C2H2-type 12PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri543 – 56523C2H2-type 13PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri571 – 59323C2H2-type 14PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri599 – 62123C2H2-type 15PROSITE-ProRule annotationAdd
    BLAST

    GO - Molecular functioni

    1. DNA binding Source: UniProtKB-KW
    2. metal ion binding Source: UniProtKB-KW
    3. sequence-specific DNA binding transcription factor activity Source: RefGenome

    GO - Biological processi

    1. regulation of transcription, DNA-templated Source: RefGenome
    2. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding, Metal-binding, Zinc

    Enzyme and pathway databases

    ReactomeiREACT_12627. Generic Transcription Pathway.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Zinc finger protein 471
    Alternative name(s):
    EZFIT-related protein 1
    Gene namesi
    Name:ZNF471
    Synonyms:ERP1, KIAA1396
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:23226. ZNF471.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: LIFEdb

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134940750.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 626626Zinc finger protein 471PRO_0000047603Add
    BLAST

    Proteomic databases

    PaxDbiQ9BX82.
    PRIDEiQ9BX82.

    PTM databases

    PhosphoSiteiQ9BX82.

    Expressioni

    Gene expression databases

    ArrayExpressiQ9BX82.
    BgeeiQ9BX82.
    CleanExiHS_ZNF471.
    GenevestigatoriQ9BX82.

    Interactioni

    Protein-protein interaction databases

    BioGridi121626. 3 interactions.
    IntActiQ9BX82. 1 interaction.
    MINTiMINT-2816434.
    STRINGi9606.ENSP00000309161.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BX82.
    SMRiQ9BX82. Positions 14-54, 180-626.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini14 – 8572KRABPROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Contains 15 C2H2-type zinc fingers.PROSITE-ProRule annotation
    Contains 1 KRAB domain.PROSITE-ProRule annotation

    Zinc finger

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Zinc fingeri206 – 22823C2H2-type 1PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri234 – 25623C2H2-type 2PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri262 – 28423C2H2-type 3PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri290 – 31223C2H2-type 4PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri318 – 34023C2H2-type 5PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri346 – 36924C2H2-type 6PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri375 – 39723C2H2-type 7PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri403 – 42523C2H2-type 8PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri431 – 45323C2H2-type 9PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri459 – 48123C2H2-type 10PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri487 – 50923C2H2-type 11PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri515 – 53723C2H2-type 12PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri543 – 56523C2H2-type 13PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri571 – 59323C2H2-type 14PROSITE-ProRule annotationAdd
    BLAST
    Zinc fingeri599 – 62123C2H2-type 15PROSITE-ProRule annotationAdd
    BLAST

    Keywords - Domaini

    Repeat, Zinc-finger

    Phylogenomic databases

    eggNOGiCOG5048.
    HOGENOMiHOG000234617.
    HOVERGENiHBG018163.
    InParanoidiQ9BX82.
    KOiK09228.
    OMAiPFSDWES.
    OrthoDBiEOG7KSX7Q.
    PhylomeDBiQ9BX82.
    TreeFamiTF341817.

    Family and domain databases

    Gene3Di3.30.160.60. 15 hits.
    InterProiIPR001909. Krueppel-associated_box.
    IPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    IPR013087. Znf_C2H2/integrase_DNA-bd.
    [Graphical view]
    PfamiPF01352. KRAB. 1 hit.
    [Graphical view]
    SMARTiSM00349. KRAB. 1 hit.
    SM00355. ZnF_C2H2. 15 hits.
    [Graphical view]
    SUPFAMiSSF109640. SSF109640. 1 hit.
    PROSITEiPS50805. KRAB. 1 hit.
    PS00028. ZINC_FINGER_C2H2_1. 15 hits.
    PS50157. ZINC_FINGER_C2H2_2. 15 hits.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9BX82-1) [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

    MNVEVVKVMP QDLVTFKDVA IDFSQEEWQW MNPAQKRLYR SMMLENYQSL    50
    VSLGLCISKP YVISLLEQGR EPWEMTSEMT RSPFSDWESI YVTQELPLKQ 100
    FMYDDACMEG ITSYGLECST FEENWKWEDL FEKQMGSHEM FSKKEIITHK 150
    ETITKETEFK YTKFGKCIHL ENIEESIYNH TSDKKSFSKN SMVIKHKKVY 200
    VGKKLFKCNE CDKTFTHSSS LTVHFRIHTG EKPYACEECG KAFKQRQHLA 250
    QHHRTHTGEK LFECKECRKA FKQSEHLIQH QRIHTGEKPY KCKECRKAFR 300
    QPAHLAQHQR IHTGEKPYEC KECGKAFSDG SSFARHQRCH TGKRPYECIE 350
    CGKAFRYNTS FIRHWRSYHT GEKPFNCIDC GKAFSVHIGL ILHRRIHTGE 400
    KPYKCGVCGK TFSSGSSRTV HQRIHTGEKP YECDICGKDF SHHASLTQHQ 450
    RVHSGEKPYE CKECGKAFRQ NVHLVSHLRI HTGEKPYECK ECGKAFRISS 500
    QLATHQRIHT GEKPYECIEC GNAFKQRSHL AQHQKTHTGE KPYECNECGK 550
    AFSQTSNLTQ HQRIHTGEKP YKCTECGKAF SDSSSCAQHQ RLHTGQRPYQ 600
    CFECGKAFRR KLSLICHQRS HTGEEP 626
    Length:626
    Mass (Da):73,009
    Last modified:June 1, 2001 - v1
    Checksum:i7F47ACFB04CE99AA
    GO
    Isoform 2 (identifier: Q9BX82-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         86-247: DWESIYVTQE...ECGKAFKQRQ → EFILVKNHMH...LIVGKPSVFT
         248-626: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:247
    Mass (Da):28,176
    Checksum:i29DE370951019E57
    GO

    Sequence cautioni

    The sequence AAC32422.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti61 – 611Y → C in CAD38551. (PubMed:17974005)Curated
    Sequence conflicti407 – 4071V → A in CAD38551. (PubMed:17974005)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti192 – 1921M → I.1 Publication
    Corresponds to variant rs11667052 [ dbSNP | Ensembl ].
    VAR_052836
    Natural varianti309 – 3091Q → R.
    Corresponds to variant rs45487092 [ dbSNP | Ensembl ].
    VAR_061951
    Natural varianti361 – 3611F → C in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035583
    Natural varianti406 – 4061G → D.3 Publications
    Corresponds to variant rs3752176 [ dbSNP | Ensembl ].
    VAR_052837
    Natural varianti556 – 5561S → C.1 Publication
    Corresponds to variant rs16987303 [ dbSNP | Ensembl ].
    VAR_052838

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei86 – 247162DWESI…FKQRQ → EFILVKNHMHVRNVEKPSSK GNTLLNITEHILERNSLNVK NVGKPSNKVNTLFSIKEFIL EKNHINVRNAEKPSDSLHTL LSIREFILERNPMNVKNVAK PSVMARLLLDIRDVTLAKDP MNVLSVGRLLGITHLLFVTG GVIILERSLLIALIVGKPSV FT in isoform 2. 1 PublicationVSP_055955Add
    BLAST
    Alternative sequencei248 – 626379Missing in isoform 2. 1 PublicationVSP_055956Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF352026 mRNA. Translation: AAK30252.1.
    AK291416 mRNA. Translation: BAF84105.1.
    AK293908 mRNA. Translation: BAG57293.1.
    AL831845 mRNA. Translation: CAD38551.1.
    AC004696 Genomic DNA. No translation available.
    AC005498 Genomic DNA. Translation: AAC32422.1. Sequence problems.
    BC125221 mRNA. Translation: AAI25222.1.
    BC125222 mRNA. Translation: AAI25223.1.
    AB037817 mRNA. Translation: BAA92634.1.
    CCDSiCCDS12945.1.
    RefSeqiNP_065864.2. NM_020813.2.
    UniGeneiHs.710590.

    Genome annotation databases

    EnsembliENST00000308031; ENSP00000309161; ENSG00000196263.
    ENST00000591537; ENSP00000466224; ENSG00000196263.
    GeneIDi57573.
    KEGGihsa:57573.
    UCSCiuc002qnh.3. human.

    Polymorphism databases

    DMDMi37999856.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF352026 mRNA. Translation: AAK30252.1 .
    AK291416 mRNA. Translation: BAF84105.1 .
    AK293908 mRNA. Translation: BAG57293.1 .
    AL831845 mRNA. Translation: CAD38551.1 .
    AC004696 Genomic DNA. No translation available.
    AC005498 Genomic DNA. Translation: AAC32422.1 . Sequence problems.
    BC125221 mRNA. Translation: AAI25222.1 .
    BC125222 mRNA. Translation: AAI25223.1 .
    AB037817 mRNA. Translation: BAA92634.1 .
    CCDSi CCDS12945.1.
    RefSeqi NP_065864.2. NM_020813.2.
    UniGenei Hs.710590.

    3D structure databases

    ProteinModelPortali Q9BX82.
    SMRi Q9BX82. Positions 14-54, 180-626.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 121626. 3 interactions.
    IntActi Q9BX82. 1 interaction.
    MINTi MINT-2816434.
    STRINGi 9606.ENSP00000309161.

    PTM databases

    PhosphoSitei Q9BX82.

    Polymorphism databases

    DMDMi 37999856.

    Proteomic databases

    PaxDbi Q9BX82.
    PRIDEi Q9BX82.

    Protocols and materials databases

    DNASUi 57573.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000308031 ; ENSP00000309161 ; ENSG00000196263 .
    ENST00000591537 ; ENSP00000466224 ; ENSG00000196263 .
    GeneIDi 57573.
    KEGGi hsa:57573.
    UCSCi uc002qnh.3. human.

    Organism-specific databases

    CTDi 57573.
    GeneCardsi GC19P057019.
    HGNCi HGNC:23226. ZNF471.
    neXtProti NX_Q9BX82.
    PharmGKBi PA134940750.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG5048.
    HOGENOMi HOG000234617.
    HOVERGENi HBG018163.
    InParanoidi Q9BX82.
    KOi K09228.
    OMAi PFSDWES.
    OrthoDBi EOG7KSX7Q.
    PhylomeDBi Q9BX82.
    TreeFami TF341817.

    Enzyme and pathway databases

    Reactomei REACT_12627. Generic Transcription Pathway.

    Miscellaneous databases

    GeneWikii ZNF471.
    GenomeRNAii 57573.
    NextBioi 64105.
    PROi Q9BX82.

    Gene expression databases

    ArrayExpressi Q9BX82.
    Bgeei Q9BX82.
    CleanExi HS_ZNF471.
    Genevestigatori Q9BX82.

    Family and domain databases

    Gene3Di 3.30.160.60. 15 hits.
    InterProi IPR001909. Krueppel-associated_box.
    IPR007087. Znf_C2H2.
    IPR015880. Znf_C2H2-like.
    IPR013087. Znf_C2H2/integrase_DNA-bd.
    [Graphical view ]
    Pfami PF01352. KRAB. 1 hit.
    [Graphical view ]
    SMARTi SM00349. KRAB. 1 hit.
    SM00355. ZnF_C2H2. 15 hits.
    [Graphical view ]
    SUPFAMi SSF109640. SSF109640. 1 hit.
    PROSITEi PS50805. KRAB. 1 hit.
    PS00028. ZINC_FINGER_C2H2_1. 15 hits.
    PS50157. ZINC_FINGER_C2H2_2. 15 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "EZFIT-related protein 1."
      Mataki C., Murakami T., Umetani M., Wada Y., Hamakubo T., Kodama T.
      Submitted (FEB-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Pancreas.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT ASP-406.
      Tissue: Brain and Cerebellum.
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Skeletal muscle.
    4. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ASP-406.
    6. "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.
      DNA Res. 7:65-73(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 76-626 (ISOFORM 1), VARIANTS ILE-192; ASP-406 AND CYS-556.
      Tissue: Brain.
    7. Cited for: VARIANT [LARGE SCALE ANALYSIS] CYS-361.

    Entry informationi

    Entry nameiZN471_HUMAN
    AccessioniPrimary (citable) accession number: Q9BX82
    Secondary accession number(s): B4DF32
    , O75260, Q08AD6, Q08AD7, Q8N3V1, Q9P2F1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 24, 2003
    Last sequence update: June 1, 2001
    Last modified: October 1, 2014
    This is version 123 of the entry and version 1 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 19
      Human chromosome 19: 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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3