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Q9H2A2

- AL8A1_HUMAN

UniProt

Q9H2A2 - AL8A1_HUMAN

Protein

Aldehyde dehydrogenase family 8 member A1

Gene

ALDH8A1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 110 (01 Oct 2014)
      Sequence version 1 (01 Mar 2001)
      Previous versions | rss
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    Functioni

    Converts 9-cis-retinal to 9-cis-retinoic acid. Has lower activity towards 13-cis-retinal. Has much lower activity towards all-trans-retinal. Has highest activity with benzaldehyde and decanal (in vitro). Has a preference for NAD, but shows considerable activity with NADP (in vitro).1 Publication

    Kineticsi

    1. KM=17.5 µM for benzaldehyde1 Publication
    2. KM=3.15 µM for 9-cis-retinal1 Publication

    pH dependencei

    Optimum pH is 9.1 Publication

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei155 – 1551Transition state stabilizerBy similarity
    Active sitei253 – 2531Proton acceptorPROSITE-ProRule annotation
    Active sitei287 – 2871NucleophilePROSITE-ProRule annotation

    Regions

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Nucleotide bindingi209 – 2157NADSequence Analysis

    GO - Molecular functioni

    1. retinal dehydrogenase activity Source: UniProtKB

    GO - Biological processi

    1. 9-cis-retinoic acid biosynthetic process Source: Ensembl
    2. retinal metabolic process Source: UniProtKB
    3. retinoic acid metabolic process Source: UniProtKB

    Keywords - Molecular functioni

    Oxidoreductase

    Keywords - Ligandi

    NAD

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Aldehyde dehydrogenase family 8 member A1 (EC:1.2.1.-)
    Alternative name(s):
    Aldehyde dehydrogenase 12
    Gene namesi
    Name:ALDH8A1
    Synonyms:ALDH12
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:15471. ALDH8A1.

    Subcellular locationi

    Cytoplasm By similarity

    GO - Cellular componenti

    1. cytoplasm Source: UniProtKB-SubCell
    2. extracellular vesicular exosome Source: UniProt
    3. intracellular Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA24705.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 487487Aldehyde dehydrogenase family 8 member A1PRO_0000312954Add
    BLAST

    Proteomic databases

    MaxQBiQ9H2A2.
    PaxDbiQ9H2A2.
    PRIDEiQ9H2A2.

    PTM databases

    PhosphoSiteiQ9H2A2.

    Expressioni

    Tissue specificityi

    Highly expressed in adult kidney and liver. Detected at lower levels in fetal liver and kidney.1 Publication

    Gene expression databases

    ArrayExpressiQ9H2A2.
    BgeeiQ9H2A2.
    CleanExiHS_ALDH8A1.
    GenevestigatoriQ9H2A2.

    Organism-specific databases

    HPAiHPA026292.

    Interactioni

    Protein-protein interaction databases

    BioGridi122204. 1 interaction.
    IntActiQ9H2A2. 1 interaction.
    STRINGi9606.ENSP00000265605.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9H2A2.
    SMRiQ9H2A2. Positions 12-485.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the aldehyde dehydrogenase family.Curated

    Phylogenomic databases

    eggNOGiCOG1012.
    HOGENOMiHOG000271505.
    HOVERGENiHBG000097.
    InParanoidiQ9H2A2.
    OMAiVKDESCC.
    OrthoDBiEOG7FV3Q2.
    PhylomeDBiQ9H2A2.
    TreeFamiTF314129.

    Family and domain databases

    Gene3Di3.40.309.10. 1 hit.
    3.40.605.10. 1 hit.
    InterProiIPR016161. Ald_DH/histidinol_DH.
    IPR016163. Ald_DH_C.
    IPR016160. Ald_DH_CS_CYS.
    IPR029510. Ald_DH_CS_GLU.
    IPR016162. Ald_DH_N.
    IPR015590. Aldehyde_DH_dom.
    [Graphical view]
    PfamiPF00171. Aldedh. 1 hit.
    [Graphical view]
    SUPFAMiSSF53720. SSF53720. 1 hit.
    PROSITEiPS00070. ALDEHYDE_DEHYDR_CYS. 1 hit.
    PS00687. ALDEHYDE_DEHYDR_GLU. 1 hit.
    [Graphical view]

    Sequences (4)i

    Sequence statusi: Complete.

    This entry describes 4 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9H2A2-1) [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

    MAGTNALLML ENFIDGKFLP CSSYIDSYDP STGEVYCRVP NSGKDEIEAA    50
    VKAAREAFPS WSSRSPQERS RVLNQVADLL EQSLEEFAQA ESKDQGKTLA 100
    LARTMDIPRS VQNFRFFASS SLHHTSECTQ MDHLGCMHYT VRAPVGVAGL 150
    ISPWNLPLYL LTWKIAPAMA AGNTVIAKPS ELTSVTAWML CKLLDKAGVP 200
    PGVVNIVFGT GPRVGEALVS HPEVPLISFT GSQPTAERIT QLSAPHCKKL 250
    SLELGGKNPA IIFEDANLDE CIPATVRSSF ANQGEICLCT SRIFVQKSIY 300
    SEFLKRFVEA TRKWKVGIPS DPLVSIGALI SKAHLEKVRS YVKRALAEGA 350
    QIWCGEGVDK LSLPARNQAG YFMLPTVITD IKDESCCMTE EIFGPVTCVV 400
    PFDSEEEVIE RANNVKYGLA ATVWSSNVGR VHRVAKKLQS GLVWTNCWLI 450
    RELNLPFGGM KSSGIGREGA KDSYDFFTEI KTITVKH 487
    Length:487
    Mass (Da):53,401
    Last modified:March 1, 2001 - v1
    Checksum:i3CC09F6A7CCC269F
    GO
    Isoform 2 (identifier: Q9H2A2-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         284-337: Missing.

    Note: Lacks enzymatic activity.

    Show »
    Length:433
    Mass (Da):47,325
    Checksum:i9777AFD28CE20C14
    GO
    Isoform 3 (identifier: Q9H2A2-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         148-160: AGLISPWNLPLYL → VPGYTCRTCRFVT
         161-487: Missing.

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

    Show »
    Length:160
    Mass (Da):17,809
    Checksum:iC94538B542A8ECAD
    GO
    Isoform 4 (identifier: Q9H2A2-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         148-197: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:437
    Mass (Da):48,036
    Checksum:i9544E73B210BABD6
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti252 – 2521L → P in BAD96568. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti402 – 4021F → S.
    Corresponds to variant rs2294315 [ dbSNP | Ensembl ].
    VAR_037618

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei148 – 19750Missing in isoform 4. 1 PublicationVSP_043279Add
    BLAST
    Alternative sequencei148 – 16013AGLIS…LPLYL → VPGYTCRTCRFVT in isoform 3. 1 PublicationVSP_039759Add
    BLAST
    Alternative sequencei161 – 487327Missing in isoform 3. 1 PublicationVSP_039760Add
    BLAST
    Alternative sequencei284 – 33754Missing in isoform 2. 3 PublicationsVSP_029972Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF303134 mRNA. Translation: AAG42417.1.
    AK290784 mRNA. Translation: BAF83473.1.
    AK298325 mRNA. Translation: BAH12757.1.
    AK222848 mRNA. Translation: BAD96568.1.
    AL021939, AL445190 Genomic DNA. Translation: CAI20305.1.
    AL021939, AL445190 Genomic DNA. Translation: CAI20306.1.
    AL445190, AL021939 Genomic DNA. Translation: CAI95158.1.
    AL445190, AL021939 Genomic DNA. Translation: CAI95159.1.
    CH471051 Genomic DNA. Translation: EAW47985.1.
    CH471051 Genomic DNA. Translation: EAW47986.1.
    BC113862 mRNA. Translation: AAI13863.1.
    BC114473 mRNA. Translation: AAI14474.1. Sequence problems.
    CCDSiCCDS5171.1. [Q9H2A2-1]
    CCDS5172.1. [Q9H2A2-2]
    CCDS55057.1. [Q9H2A2-4]
    RefSeqiNP_001180409.1. NM_001193480.1. [Q9H2A2-4]
    NP_072090.1. NM_022568.3. [Q9H2A2-1]
    NP_739577.1. NM_170771.2. [Q9H2A2-2]
    UniGeneiHs.486520.

    Genome annotation databases

    EnsembliENST00000265605; ENSP00000265605; ENSG00000118514. [Q9H2A2-1]
    ENST00000349305; ENSP00000325473; ENSG00000118514. [Q9H2A2-3]
    ENST00000367845; ENSP00000356819; ENSG00000118514. [Q9H2A2-2]
    ENST00000367847; ENSP00000356821; ENSG00000118514. [Q9H2A2-4]
    GeneIDi64577.
    KEGGihsa:64577.
    UCSCiuc003qew.3. human. [Q9H2A2-1]
    uc003qex.3. human. [Q9H2A2-2]
    uc011ecx.2. human. [Q9H2A2-4]

    Polymorphism databases

    DMDMi74752601.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF303134 mRNA. Translation: AAG42417.1 .
    AK290784 mRNA. Translation: BAF83473.1 .
    AK298325 mRNA. Translation: BAH12757.1 .
    AK222848 mRNA. Translation: BAD96568.1 .
    AL021939 , AL445190 Genomic DNA. Translation: CAI20305.1 .
    AL021939 , AL445190 Genomic DNA. Translation: CAI20306.1 .
    AL445190 , AL021939 Genomic DNA. Translation: CAI95158.1 .
    AL445190 , AL021939 Genomic DNA. Translation: CAI95159.1 .
    CH471051 Genomic DNA. Translation: EAW47985.1 .
    CH471051 Genomic DNA. Translation: EAW47986.1 .
    BC113862 mRNA. Translation: AAI13863.1 .
    BC114473 mRNA. Translation: AAI14474.1 . Sequence problems.
    CCDSi CCDS5171.1. [Q9H2A2-1 ]
    CCDS5172.1. [Q9H2A2-2 ]
    CCDS55057.1. [Q9H2A2-4 ]
    RefSeqi NP_001180409.1. NM_001193480.1. [Q9H2A2-4 ]
    NP_072090.1. NM_022568.3. [Q9H2A2-1 ]
    NP_739577.1. NM_170771.2. [Q9H2A2-2 ]
    UniGenei Hs.486520.

    3D structure databases

    ProteinModelPortali Q9H2A2.
    SMRi Q9H2A2. Positions 12-485.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 122204. 1 interaction.
    IntActi Q9H2A2. 1 interaction.
    STRINGi 9606.ENSP00000265605.

    PTM databases

    PhosphoSitei Q9H2A2.

    Polymorphism databases

    DMDMi 74752601.

    Proteomic databases

    MaxQBi Q9H2A2.
    PaxDbi Q9H2A2.
    PRIDEi Q9H2A2.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000265605 ; ENSP00000265605 ; ENSG00000118514 . [Q9H2A2-1 ]
    ENST00000349305 ; ENSP00000325473 ; ENSG00000118514 . [Q9H2A2-3 ]
    ENST00000367845 ; ENSP00000356819 ; ENSG00000118514 . [Q9H2A2-2 ]
    ENST00000367847 ; ENSP00000356821 ; ENSG00000118514 . [Q9H2A2-4 ]
    GeneIDi 64577.
    KEGGi hsa:64577.
    UCSCi uc003qew.3. human. [Q9H2A2-1 ]
    uc003qex.3. human. [Q9H2A2-2 ]
    uc011ecx.2. human. [Q9H2A2-4 ]

    Organism-specific databases

    CTDi 64577.
    GeneCardsi GC06M135238.
    HGNCi HGNC:15471. ALDH8A1.
    HPAi HPA026292.
    MIMi 606467. gene.
    neXtProti NX_Q9H2A2.
    PharmGKBi PA24705.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1012.
    HOGENOMi HOG000271505.
    HOVERGENi HBG000097.
    InParanoidi Q9H2A2.
    OMAi VKDESCC.
    OrthoDBi EOG7FV3Q2.
    PhylomeDBi Q9H2A2.
    TreeFami TF314129.

    Miscellaneous databases

    GenomeRNAii 64577.
    NextBioi 66507.
    PROi Q9H2A2.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9H2A2.
    Bgeei Q9H2A2.
    CleanExi HS_ALDH8A1.
    Genevestigatori Q9H2A2.

    Family and domain databases

    Gene3Di 3.40.309.10. 1 hit.
    3.40.605.10. 1 hit.
    InterProi IPR016161. Ald_DH/histidinol_DH.
    IPR016163. Ald_DH_C.
    IPR016160. Ald_DH_CS_CYS.
    IPR029510. Ald_DH_CS_GLU.
    IPR016162. Ald_DH_N.
    IPR015590. Aldehyde_DH_dom.
    [Graphical view ]
    Pfami PF00171. Aldedh. 1 hit.
    [Graphical view ]
    SUPFAMi SSF53720. SSF53720. 1 hit.
    PROSITEi PS00070. ALDEHYDE_DEHYDR_CYS. 1 hit.
    PS00687. ALDEHYDE_DEHYDR_GLU. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "cDNA cloning and expression of a human aldehyde dehydrogenase (ALDH) active with 9-cis-retinal and identification of a rat ortholog, ALDH12."
      Lin M., Napoli J.L.
      J. Biol. Chem. 275:40106-40112(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), FUNCTION, BIOPHYSICOCHEMICAL PROPERTIES, TISSUE SPECIFICITY.
      Tissue: Kidney.
    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 2 AND 4).
      Tissue: Kidney and Liver.
    3. Suzuki Y., Sugano S., Totoki Y., Toyoda A., Takeda T., Sakaki Y., Tanaka A., Yokoyama S.
      Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Liver.
    4. "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].
    5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "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] (ISOFORMS 1 AND 3).

    Entry informationi

    Entry nameiAL8A1_HUMAN
    AccessioniPrimary (citable) accession number: Q9H2A2
    Secondary accession number(s): B7Z521
    , O60793, Q24JS9, Q53GT3, Q5TI80
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 15, 2008
    Last sequence update: March 1, 2001
    Last modified: October 1, 2014
    This is version 110 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 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. 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