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O15287

- FANCG_HUMAN

UniProt

O15287 - FANCG_HUMAN

Protein

Fanconi anemia group G protein

Gene

FANCG

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 145 (01 Oct 2014)
      Sequence version 1 (01 Jan 1998)
      Previous versions | rss
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    Functioni

    DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Candidate tumor suppressor gene.

    GO - Molecular functioni

    1. damaged DNA binding Source: ProtInc
    2. protein binding Source: UniProtKB

    GO - Biological processi

    1. cell cycle checkpoint Source: ProtInc
    2. DNA repair Source: Reactome
    3. mitochondrion organization Source: UniProtKB
    4. ovarian follicle development Source: Ensembl
    5. response to radiation Source: Ensembl
    6. spermatid development Source: Ensembl

    Keywords - Biological processi

    DNA damage, DNA repair

    Enzyme and pathway databases

    ReactomeiREACT_18410. Fanconi Anemia pathway.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Fanconi anemia group G protein
    Short name:
    Protein FACG
    Alternative name(s):
    DNA repair protein XRCC9
    Gene namesi
    Name:FANCG
    Synonyms:XRCC9
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:3588. FANCG.

    Subcellular locationi

    Nucleus 1 Publication. Cytoplasm 1 Publication
    Note: The major form is nuclear. The minor form is cytoplasmic.

    GO - Cellular componenti

    1. cytoplasm Source: HPA
    2. Fanconi anaemia nuclear complex Source: UniProtKB
    3. mitochondrion Source: UniProtKB
    4. nucleolus Source: HPA
    5. nucleoplasm Source: Reactome
    6. plasma membrane Source: HPA

    Keywords - Cellular componenti

    Cytoplasm, Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    Fanconi anemia complementation group G (FANCG) [MIM:614082]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.2 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti71 – 711L → P in FANCG; associated with a mild clinical phenotype; disruption of HES1-binding; no effect on FANCA-binding. 2 Publications
    VAR_017495

    Mutagenesis

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Mutagenesisi7 – 71S → A: Loss of BRCA2-, FANCD2- and XRCC3-binding. No effect on complex formation with FANCA and FANCF. 1 Publication
    Mutagenesisi383 – 3831S → A: No effect on BRCA2-, FANCA-, FANCF-, nor XRCC3-binding. 1 Publication
    Mutagenesisi387 – 3871S → A: No effect on BRCA2-, FANCA-, FANCF-, nor XRCC3-binding. 1 Publication
    Mutagenesisi546 – 5461G → R: No effect on HES1-, nor FANCA-binding. 1 Publication

    Keywords - Diseasei

    Disease mutation, Fanconi anemia

    Organism-specific databases

    MIMi614082. phenotype.
    Orphaneti84. Fanconi anemia.
    PharmGKBiPA28002.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 622622Fanconi anemia group G proteinPRO_0000106292Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei7 – 71Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiO15287.
    PaxDbiO15287.
    PRIDEiO15287.

    PTM databases

    PhosphoSiteiO15287.

    Expressioni

    Tissue specificityi

    Highly expressed in testis and thymus. Found in lymphoblasts.

    Gene expression databases

    ArrayExpressiO15287.
    BgeeiO15287.
    CleanExiHS_FANCG.
    GenevestigatoriO15287.

    Organism-specific databases

    HPAiCAB008105.
    HPA045335.

    Interactioni

    Subunit structurei

    Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. The complex is not found in FA patients. In complex with FANCF, FANCA and FANCL, but not with FANCC, nor FANCE, interacts with HES1; this interaction may be essential for the stability and nuclear localization of FA core complex proteins. The complex with FANCC and FANCG may also include EIF2AK2 and HSP70. When phosphorylated at Ser-7, forms a complex with BRCA2, FANCD2 and XRCC3.9 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    FANCAO1536010EBI-81610,EBI-81570
    FANCFQ9NPI84EBI-81610,EBI-81589
    SPTAN1Q138134EBI-81610,EBI-351450

    Protein-protein interaction databases

    BioGridi108484. 39 interactions.
    IntActiO15287. 12 interactions.
    MINTiMINT-96443.
    STRINGi9606.ENSP00000367910.

    Structurei

    3D structure databases

    ProteinModelPortaliO15287.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati246 – 27934TPR 1Add
    BLAST
    Repeati344 – 37734TPR 2Add
    BLAST
    Repeati453 – 48634TPR 3Add
    BLAST
    Repeati514 – 54734TPR 4Add
    BLAST

    Sequence similaritiesi

    Contains 4 TPR repeats.Curated

    Keywords - Domaini

    Repeat, TPR repeat

    Phylogenomic databases

    eggNOGiNOG40254.
    HOGENOMiHOG000231403.
    HOVERGENiHBG051551.
    InParanoidiO15287.
    KOiK10894.
    OMAiDTKALQD.
    OrthoDBiEOG7S21Z5.
    PhylomeDBiO15287.
    TreeFamiTF330722.

    Family and domain databases

    Gene3Di1.25.40.10. 1 hit.
    InterProiIPR011990. TPR-like_helical.
    IPR001440. TPR_1.
    IPR019734. TPR_repeat.
    [Graphical view]
    PfamiPF00515. TPR_1. 1 hit.
    [Graphical view]
    SMARTiSM00028. TPR. 3 hits.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    O15287-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSRQTTSVGS SCLDLWREKN DRLVRQAKVA QNSGLTLRRQ QLAQDALEGL    50
    RGLLHSLQGL PAAVPVLPLE LTVTCNFIIL RASLAQGFTE DQAQDIQRSL 100
    ERVLETQEQQ GPRLEQGLRE LWDSVLRASC LLPELLSALH RLVGLQAALW 150
    LSADRLGDLA LLLETLNGSQ SGASKDLLLL LKTWSPPAEE LDAPLTLQDA 200
    QGLKDVLLTA FAYRQGLQEL ITGNPDKALS SLHEAASGLC PRPVLVQVYT 250
    ALGSCHRKMG NPQRALLYLV AALKEGSAWG PPLLEASRLY QQLGDTTAEL 300
    ESLELLVEAL NVPCSSKAPQ FLIEVELLLP PPDLASPLHC GTQSQTKHIL 350
    ASRCLQTGRA GDAAEHYLDL LALLLDSSEP RFSPPPSPPG PCMPEVFLEA 400
    AVALIQAGRA QDALTLCEEL LSRTSSLLPK MSRLWEDARK GTKELPYCPL 450
    WVSATHLLQG QAWVQLGAQK VAISEFSRCL ELLFRATPEE KEQGAAFNCE 500
    QGCKSDAALQ QLRAAALISR GLEWVASGQD TKALQDFLLS VQMCPGNRDT 550
    YFHLLQTLKR LDRRDEATAL WWRLEAQTKG SHEDALWSLP LYLESYLSWI 600
    RPSDRDAFLE EFRTSLPKSC DL 622
    Length:622
    Mass (Da):68,554
    Last modified:January 1, 1998 - v1
    Checksum:i4BC7475472AC3C84
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti71 – 711L → P in FANCG; associated with a mild clinical phenotype; disruption of HES1-binding; no effect on FANCA-binding. 2 Publications
    VAR_017495
    Natural varianti294 – 2941G → E.1 Publication
    Corresponds to variant rs17880082 [ dbSNP | Ensembl ].
    VAR_021103
    Natural varianti297 – 2971T → I.1 Publication
    Corresponds to variant rs2237857 [ dbSNP | Ensembl ].
    VAR_020311
    Natural varianti330 – 3301P → S.1 Publication
    Corresponds to variant rs4986940 [ dbSNP | Ensembl ].
    VAR_021104
    Natural varianti378 – 3781S → L.1 Publication
    Corresponds to variant rs4986939 [ dbSNP | Ensembl ].
    VAR_021105
    Natural varianti430 – 4301K → E.1 Publication
    Corresponds to variant rs17881054 [ dbSNP | Ensembl ].
    VAR_021106
    Natural varianti513 – 5131R → Q.1 Publication
    Corresponds to variant rs17885240 [ dbSNP | Ensembl ].
    VAR_021107
    Natural varianti603 – 6031S → F.1 Publication
    Corresponds to variant rs17878854 [ dbSNP | Ensembl ].
    VAR_021108
    Natural varianti607 – 6071A → T in a colorectal cancer sample; somatic mutation. 1 Publication
    VAR_035864

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U70310 mRNA. Translation: AAB80802.1.
    AJ007669 mRNA. Translation: CAA07602.1.
    AY795970 Genomic DNA. Translation: AAV40841.1.
    AC004472 Genomic DNA. Translation: AAC07981.1.
    AL353795 Genomic DNA. Translation: CAH70994.1.
    BC000032 mRNA. Translation: AAH00032.1.
    BC011623 mRNA. Translation: AAH11623.1.
    CCDSiCCDS6574.1.
    PIRiT02244.
    RefSeqiNP_004620.1. NM_004629.1.
    UniGeneiHs.591084.

    Genome annotation databases

    EnsembliENST00000378643; ENSP00000367910; ENSG00000221829.
    GeneIDi2189.
    KEGGihsa:2189.
    UCSCiuc003zwb.1. human.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Fanconi Anemia Mutation Database
    Atlas of Genetics and Cytogenetics in Oncology and Haematology
    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    U70310 mRNA. Translation: AAB80802.1 .
    AJ007669 mRNA. Translation: CAA07602.1 .
    AY795970 Genomic DNA. Translation: AAV40841.1 .
    AC004472 Genomic DNA. Translation: AAC07981.1 .
    AL353795 Genomic DNA. Translation: CAH70994.1 .
    BC000032 mRNA. Translation: AAH00032.1 .
    BC011623 mRNA. Translation: AAH11623.1 .
    CCDSi CCDS6574.1.
    PIRi T02244.
    RefSeqi NP_004620.1. NM_004629.1.
    UniGenei Hs.591084.

    3D structure databases

    ProteinModelPortali O15287.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 108484. 39 interactions.
    IntActi O15287. 12 interactions.
    MINTi MINT-96443.
    STRINGi 9606.ENSP00000367910.

    PTM databases

    PhosphoSitei O15287.

    Proteomic databases

    MaxQBi O15287.
    PaxDbi O15287.
    PRIDEi O15287.

    Protocols and materials databases

    DNASUi 2189.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000378643 ; ENSP00000367910 ; ENSG00000221829 .
    GeneIDi 2189.
    KEGGi hsa:2189.
    UCSCi uc003zwb.1. human.

    Organism-specific databases

    CTDi 2189.
    GeneCardsi GC09M035073.
    GeneReviewsi FANCG.
    HGNCi HGNC:3588. FANCG.
    HPAi CAB008105.
    HPA045335.
    MIMi 602956. gene.
    614082. phenotype.
    neXtProti NX_O15287.
    Orphaneti 84. Fanconi anemia.
    PharmGKBi PA28002.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG40254.
    HOGENOMi HOG000231403.
    HOVERGENi HBG051551.
    InParanoidi O15287.
    KOi K10894.
    OMAi DTKALQD.
    OrthoDBi EOG7S21Z5.
    PhylomeDBi O15287.
    TreeFami TF330722.

    Enzyme and pathway databases

    Reactomei REACT_18410. Fanconi Anemia pathway.

    Miscellaneous databases

    GeneWikii FANCG.
    GenomeRNAii 2189.
    NextBioi 8847.
    PROi O15287.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi O15287.
    Bgeei O15287.
    CleanExi HS_FANCG.
    Genevestigatori O15287.

    Family and domain databases

    Gene3Di 1.25.40.10. 1 hit.
    InterProi IPR011990. TPR-like_helical.
    IPR001440. TPR_1.
    IPR019734. TPR_repeat.
    [Graphical view ]
    Pfami PF00515. TPR_1. 1 hit.
    [Graphical view ]
    SMARTi SM00028. TPR. 3 hits.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "The human XRCC9 gene corrects chromosomal instability and mutagen sensitivities in CHO UV40 cells."
      Liu N., Lamerdin J.E., Tucker J.D., Zhou Z.-Q., Walter C.A., Albala J.S., Busch D.B., Thompson L.H.
      Proc. Natl. Acad. Sci. U.S.A. 94:9232-9237(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
    3. NIEHS SNPs program
      Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS GLU-294; ILE-297; SER-330; LEU-378; GLU-430; GLN-513 AND PHE-603.
    4. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(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].
      Tissue: Kidney and Uterus.
    6. "Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex."
      Garcia-Higuera I., Kuang Y., Naf D., Wasik J., D'Andrea A.D.
      Mol. Cell. Biol. 19:4866-4873(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION.
    7. "A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome."
      Meetei A.R., Sechi S., Wallisch M., Yang D., Young M.K., Joenje H., Hoatlin M.E., Wang W.
      Mol. Cell. Biol. 23:3417-3426(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCC; FANCE; FANCF AND FANCL.
    8. "The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR)."
      Zhang X., Li J., Sejas D.P., Rathbun K.R., Bagby G.C., Pang Q.
      J. Biol. Chem. 279:43910-43919(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN A COMPLEX WITH EIF2AK2; FANCA; FANCC AND HSP70.
    9. Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCC; FANCE; FANCF AND FANCL.
    10. "A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M."
      Meetei A.R., Medhurst A.L., Ling C., Xue Y., Singh T.R., Bier P., Steltenpool J., Stone S., Dokal I., Mathew C.G., Hoatlin M., Joenje H., de Winter J.P., Wang W.
      Nat. Genet. 37:958-963(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN A COMPLEX WITH FANCA; FANCB; FANCC; FANCE; FANCF; FANCL AND FANCM.
    11. "FANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3."
      Wilson J.B., Yamamoto K., Marriott A.S., Hussain S., Sung P., Hoatlin M.E., Mathew C.G., Takata M., Thompson L.H., Kupfer G.M., Jones N.J.
      Oncogene 27:3641-3652(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH BRCA2; FANCD2 AND XRCC3, PHOSPHORYLATION AT SER-7, MUTAGENESIS OF SER-7; SER-383 AND SER-387.
    12. "FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway."
      Ali A.M., Pradhan A., Singh T.R., Du C., Li J., Wahengbam K., Grassman E., Auerbach A.D., Pang Q., Meetei A.R.
      Blood 119:3285-3294(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN THE FA COMPLEX.
    13. "A ubiquitin-binding protein, FAAP20, links RNF8-mediated ubiquitination to the Fanconi anemia DNA repair network."
      Yan Z., Guo R., Paramasivam M., Shen W., Ling C., Fox D. III, Wang Y., Oostra A.B., Kuehl J., Lee D.Y., Takata M., Hoatlin M.E., Schindler D., Joenje H., de Winter J.P., Li L., Seidman M.M., Wang W.
      Mol. Cell 47:61-75(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN THE FA COMPLEX.
    14. "Regulation of Rev1 by the Fanconi anemia core complex."
      Kim H., Yang K., Dejsuphong D., D'Andrea A.D.
      Nat. Struct. Mol. Biol. 19:164-170(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION IN THE FA COMPLEX.
    15. Cited for: VARIANT FANCG PRO-71.
    16. Cited for: VARIANT [LARGE SCALE ANALYSIS] THR-607.
    17. "HES1 is a novel interactor of the Fanconi anemia core complex."
      Tremblay C.S., Huang F.F., Habi O., Huard C.C., Godin C., Levesque G., Carreau M.
      Blood 112:2062-2070(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FANCG PRO-71, INTERACTION WITH HES1, SUBCELLULAR LOCATION, MUTAGENESIS OF GLY-546.

    Entry informationi

    Entry nameiFANCG_HUMAN
    AccessioniPrimary (citable) accession number: O15287
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 15, 1999
    Last sequence update: January 1, 1998
    Last modified: October 1, 2014
    This is version 145 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 9
      Human chromosome 9: 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
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3