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Q96NH3

- BROMI_HUMAN

UniProt

Q96NH3 - BROMI_HUMAN

Protein

Protein broad-minded

Gene

TBC1D32

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 93 (01 Oct 2014)
      Sequence version 4 (18 May 2010)
      Previous versions | rss
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    Functioni

    Required for high-level Shh responses in the developing neural tube. Together with CDK20, controls the structure of the primary cilium by coordinating assembly of the ciliary membrane and axoneme, allowing GLI2 to be properly activated in response to Shh signaling By similarity.By similarity

    GO - Molecular functioni

    1. Rab GTPase activator activity Source: InterPro

    GO - Biological processi

    1. multicellular organismal development Source: UniProtKB-KW

    Keywords - Molecular functioni

    Developmental protein

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein broad-minded
    Alternative name(s):
    TBC1 domain family member 32
    Gene namesi
    Name:TBC1D32
    Synonyms:BROMI, C6orf170, C6orf171
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:21485. TBC1D32.

    Subcellular locationi

    Cytoplasm By similarity. Cell projectioncilium By similarity

    GO - Cellular componenti

    1. cilium Source: UniProtKB-SubCell
    2. cytoplasm Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell projection, Cilium, Cytoplasm

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134871908.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 12571257Protein broad-mindedPRO_0000089557Add
    BLAST

    Proteomic databases

    PaxDbiQ96NH3.
    PRIDEiQ96NH3.

    PTM databases

    PhosphoSiteiQ96NH3.

    Expressioni

    Gene expression databases

    ArrayExpressiQ96NH3.
    BgeeiQ96NH3.
    CleanExiHS_C6orf170.
    GenevestigatoriQ96NH3.

    Organism-specific databases

    HPAiHPA013413.

    Interactioni

    Subunit structurei

    Interacts with CDK20, which promotes CDK20 stability and function.By similarity

    Protein-protein interaction databases

    BioGridi128710. 2 interactions.
    IntActiQ96NH3. 1 interaction.
    STRINGi9606.ENSP00000357449.

    Structurei

    3D structure databases

    ProteinModelPortaliQ96NH3.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini1119 – 1242124Rab-GAP TBCAdd
    BLAST

    Sequence similaritiesi

    Contains 1 Rab-GAP TBC domain.Curated

    Phylogenomic databases

    eggNOGiNOG74284.
    HOGENOMiHOG000111575.
    HOVERGENiHBG087600.
    OMAiKKWMHAY.
    OrthoDBiEOG7H1JJR.
    PhylomeDBiQ96NH3.
    TreeFamiTF329092.

    Family and domain databases

    InterProiIPR000195. Rab-GTPase-TBC_dom.
    IPR005373. UPF0183.
    [Graphical view]
    PANTHERiPTHR13465. PTHR13465. 1 hit.
    SUPFAMiSSF47923. SSF47923. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q96NH3-1) [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

    MAHFSSEDQA MLQAMLRRLF QSVKEKITGA PSLECAEEIL LHLEETDENF     50
    HNYEFVKYLR QHIGNTLGSM IEEEMEKCTS DRNQGEECGY DTVVQQVTKR 100
    TQESKEYKEM MHYLKNIMIA VVESMINKFE EDETRNQERQ KKIQKEKSHS 150
    YRTDNCSDSD SSLNQSYKFC QGKLQLILDQ LDPGQPKEVR YEALQTLCSA 200
    PPSDVLNCEN WTTLCEKLTV SLSDPDPVFS DRILKFCAQT FLLSPLHMTK 250
    EIYTSLAKYL ESYFLSRENH IPTLSAGVDI TNPNMTRLLK KVRLLNEYQK 300
    EAPSFWIRHP EKYMEEIVES TLSLLTVKHN QSHVVSQKIL DPIYFFALVD 350
    TKAVWFKKWM HAHYSRTTVL RLLETKYKSL VTTAIQQCVQ YFEMCKTRKA 400
    DETLGHSKHC RNKQKTFYYL GQELQYIYFI HSLCLLGRLL IYKQGRKLFP 450
    IKLKNKKGLV SLIDLLVLFT QLIYYSPSCP KMTSAAHSEN YSPASMVTEV 500
    LWILSDQKEC AVECLYNNIV IETLLQPIHN LMKGNEASPN CSETALIHIA 550
    GILARIASVE EGLILLLYGA NMNSSEESPT GAHIIAQFSK KLLDEDISIF 600
    SGSEMLPVVK GAFISVCRHI YSTCEGLQVL ITYNLHESIA KAWKKTSLLS 650
    ERIPTPVEGS DSVSSVSQES QNIMAWEDNL LDDLLHFAAT PKGLLLLQRT 700
    GAINECVTFI FNRYAKKLQV SRHKKFGYGV LVTRVASTAA GGIALKKSGF 750
    INELITELWS NLEYGRDDVR VTHPRTTPVD PIDRSCQKSF LALVNLLSYP 800
    AIYELVRNQD LPNKTEYSLR EVPTCVIDII DRLIILNSEA KIRSLFNYEQ 850
    SHIFGLRDFI IDGLSVERNH VLVRINLVGG PLERILPPRL LEKSDNPYPW 900
    PMFSSYPLPN CYLSDITRNA GIKQDNDLDK LLLCLKISDK QTEWIENCQR 950
    QFCKMMKAKP DIISGEALIE LLEKFVLHLT ESPSECYFPS VEYTATDANV 1000
    KNESLSSVQQ LGIKMTVRYG KFLSLLKDGA ENDLTWVLKH CERFLKQQQT 1050
    SIKSSLLCLQ GNYAGHDWFV SSLFMIMLGD KEKTFQFLHQ FSRLLTSAFL 1100
    WLPRLHISSY LPNDTVESGI HPVYFCSTHY IEMLLKAELP LVFSAFHMSG 1150
    FAPSQICLQW ITQCFWNYLD WIEICHYIAT CVFLGPDYQV YICIAVFKHL 1200
    QQDILQHTQT QDLQVFLKEE ALHGFRVSDY FEYMEILEQN YRTVLLRDMR 1250
    NIRLQST 1257

    Note: No experimental confirmation available.

    Length:1,257
    Mass (Da):144,756
    Last modified:May 18, 2010 - v4
    Checksum:i3370457AB4238DC0
    GO
    Isoform 2 (identifier: Q96NH3-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         857-857: R → RLLSVICCDLDTLLLLEAQYQVSEMLLNAQEENILEISESHR

    Note: No experimental confirmation available.

    Show »
    Length:1,298
    Mass (Da):149,428
    Checksum:i5C26F7B38708E92C
    GO
    Isoform 3 (identifier: Q96NH3-5) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         106-108: EYK → ELP
         109-1257: Missing.

    Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Show »
    Length:108
    Mass (Da):12,529
    Checksum:i36820D1BD1936EB6
    GO

    Sequence cautioni

    The sequence BAC03694.1 differs from that shown. Reason: Aberrant splicing.
    The sequence BAB70925.1 differs from that shown. Reason: Frameshift at position 717.
    The sequence BAC03694.1 differs from that shown. Reason: Frameshift at position 143.
    The sequence BAC86152.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.
    The sequence CAI16051.2 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAI20000.2 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAM16339.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAM17813.1 differs from that shown. Reason: Erroneous gene model prediction.
    The sequence CAM28224.1 differs from that shown. Reason: Erroneous gene model prediction.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti554 – 5541A → V in BAC86152. (PubMed:14702039)Curated
    Sequence conflicti906 – 9061Y → H in BAC03694. (PubMed:14702039)Curated
    Sequence conflicti1210 – 12101T → A in BAC86152. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti82 – 821R → Q.1 Publication
    Corresponds to variant rs7767455 [ dbSNP | Ensembl ].
    VAR_046958
    Natural varianti280 – 2801I → V.
    Corresponds to variant rs9490157 [ dbSNP | Ensembl ].
    VAR_046959
    Natural varianti375 – 3751T → K.1 Publication
    Corresponds to variant rs9387944 [ dbSNP | Ensembl ].
    VAR_046960
    Natural varianti599 – 5991I → V.
    Corresponds to variant rs7745023 [ dbSNP | Ensembl ].
    VAR_046961

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei106 – 1083EYK → ELP in isoform 3. 1 PublicationVSP_035579
    Alternative sequencei109 – 12571149Missing in isoform 3. 1 PublicationVSP_035580Add
    BLAST
    Alternative sequencei857 – 8571R → RLLSVICCDLDTLLLLEAQY QVSEMLLNAQEENILEISES HR in isoform 2. 1 PublicationVSP_014546

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK055461 mRNA. Translation: BAB70925.1. Frameshift.
    AK091554 mRNA. Translation: BAC03694.1. Sequence problems.
    AK125385 mRNA. Translation: BAC86152.1. Different initiation.
    AK131446 mRNA. Translation: BAD18591.1. Sequence problems.
    AL365508
    , AL035593, AL589910, AL590225 Genomic DNA. Translation: CAI13226.2.
    AL590225
    , AL035593, AL365508, AL589910 Genomic DNA. Translation: CAI13628.2.
    AL589910
    , AL035593, AL139098, AL365508, AL590225 Genomic DNA. Translation: CAI16051.2. Sequence problems.
    AL139098
    , AL035593, AL365508, AL589910, AL590225 Genomic DNA. Translation: CAI20000.2. Sequence problems.
    AL035593
    , AL365508, AL589910, AL590225 Genomic DNA. Translation: CAI20139.2.
    AL365508
    , AL035593, AL139098, AL589910, AL590225 Genomic DNA. Translation: CAM16339.1. Sequence problems.
    AL590225
    , AL035593, AL139098, AL365508, AL589910 Genomic DNA. Translation: CAM17813.1. Sequence problems.
    AL589910
    , AL035593, AL365508, AL590225 Genomic DNA. Translation: CAM22453.1.
    AL035593
    , AL139098, AL365508, AL589910, AL590225 Genomic DNA. Translation: CAM28224.1. Sequence problems.
    CCDSiCCDS43501.1. [Q96NH3-1]
    RefSeqiNP_689943.4. NM_152730.5. [Q96NH3-1]
    XP_005266918.1. XM_005266861.2. [Q96NH3-4]
    UniGeneiHs.121396.

    Genome annotation databases

    EnsembliENST00000275159; ENSP00000275159; ENSG00000146350. [Q96NH3-4]
    ENST00000398212; ENSP00000381270; ENSG00000146350. [Q96NH3-1]
    ENST00000464622; ENSP00000428839; ENSG00000146350. [Q96NH3-5]
    GeneIDi221322.
    KEGGihsa:221322.
    UCSCiuc003pyo.1. human. [Q96NH3-1]

    Polymorphism databases

    DMDMi296439461.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AK055461 mRNA. Translation: BAB70925.1 . Frameshift.
    AK091554 mRNA. Translation: BAC03694.1 . Sequence problems.
    AK125385 mRNA. Translation: BAC86152.1 . Different initiation.
    AK131446 mRNA. Translation: BAD18591.1 . Sequence problems.
    AL365508
    , AL035593 , AL589910 , AL590225 Genomic DNA. Translation: CAI13226.2 .
    AL590225
    , AL035593 , AL365508 , AL589910 Genomic DNA. Translation: CAI13628.2 .
    AL589910
    , AL035593 , AL139098 , AL365508 , AL590225 Genomic DNA. Translation: CAI16051.2 . Sequence problems.
    AL139098
    , AL035593 , AL365508 , AL589910 , AL590225 Genomic DNA. Translation: CAI20000.2 . Sequence problems.
    AL035593
    , AL365508 , AL589910 , AL590225 Genomic DNA. Translation: CAI20139.2 .
    AL365508
    , AL035593 , AL139098 , AL589910 , AL590225 Genomic DNA. Translation: CAM16339.1 . Sequence problems.
    AL590225
    , AL035593 , AL139098 , AL365508 , AL589910 Genomic DNA. Translation: CAM17813.1 . Sequence problems.
    AL589910
    , AL035593 , AL365508 , AL590225 Genomic DNA. Translation: CAM22453.1 .
    AL035593
    , AL139098 , AL365508 , AL589910 , AL590225 Genomic DNA. Translation: CAM28224.1 . Sequence problems.
    CCDSi CCDS43501.1. [Q96NH3-1 ]
    RefSeqi NP_689943.4. NM_152730.5. [Q96NH3-1 ]
    XP_005266918.1. XM_005266861.2. [Q96NH3-4 ]
    UniGenei Hs.121396.

    3D structure databases

    ProteinModelPortali Q96NH3.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 128710. 2 interactions.
    IntActi Q96NH3. 1 interaction.
    STRINGi 9606.ENSP00000357449.

    PTM databases

    PhosphoSitei Q96NH3.

    Polymorphism databases

    DMDMi 296439461.

    Proteomic databases

    PaxDbi Q96NH3.
    PRIDEi Q96NH3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000275159 ; ENSP00000275159 ; ENSG00000146350 . [Q96NH3-4 ]
    ENST00000398212 ; ENSP00000381270 ; ENSG00000146350 . [Q96NH3-1 ]
    ENST00000464622 ; ENSP00000428839 ; ENSG00000146350 . [Q96NH3-5 ]
    GeneIDi 221322.
    KEGGi hsa:221322.
    UCSCi uc003pyo.1. human. [Q96NH3-1 ]

    Organism-specific databases

    CTDi 221322.
    GeneCardsi GC06M121401.
    HGNCi HGNC:21485. TBC1D32.
    HPAi HPA013413.
    neXtProti NX_Q96NH3.
    PharmGKBi PA134871908.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG74284.
    HOGENOMi HOG000111575.
    HOVERGENi HBG087600.
    OMAi KKWMHAY.
    OrthoDBi EOG7H1JJR.
    PhylomeDBi Q96NH3.
    TreeFami TF329092.

    Miscellaneous databases

    ChiTaRSi C6orf170. human.
    GenomeRNAii 221322.
    NextBioi 91289.

    Gene expression databases

    ArrayExpressi Q96NH3.
    Bgeei Q96NH3.
    CleanExi HS_C6orf170.
    Genevestigatori Q96NH3.

    Family and domain databases

    InterProi IPR000195. Rab-GTPase-TBC_dom.
    IPR005373. UPF0183.
    [Graphical view ]
    PANTHERi PTHR13465. PTHR13465. 1 hit.
    SUPFAMi SSF47923. SSF47923. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "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] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 408-1257 (ISOFORM 2), VARIANTS GLN-82 AND LYS-375.
      Tissue: Brain and Testis.
    2. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

    Entry informationi

    Entry nameiBROMI_HUMAN
    AccessioniPrimary (citable) accession number: Q96NH3
    Secondary accession number(s): Q5SZD6
    , Q5SZM6, Q6ZMY4, Q6ZUR7, Q8NB47
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 19, 2005
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 93 of the entry and version 4 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 6
      Human chromosome 6: 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