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P05186

- PPBT_HUMAN

UniProt

P05186 - PPBT_HUMAN

Protein

Alkaline phosphatase, tissue-nonspecific isozyme

Gene

ALPL

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 177 (01 Oct 2014)
      Sequence version 4 (21 Jun 2005)
      Previous versions | rss
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    Functioni

    This isozyme may play a role in skeletal mineralization.

    Catalytic activityi

    A phosphate monoester + H2O = an alcohol + phosphate.PROSITE-ProRule annotation

    Cofactori

    Binds 1 magnesium ion.By similarity
    Binds 2 zinc ions.By similarity

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Metal bindingi60 – 601MagnesiumBy similarity
    Metal bindingi60 – 601Zinc 1By similarity
    Active sitei110 – 1101Phosphoserine intermediate
    Metal bindingi110 – 1101Zinc 1By similarity
    Metal bindingi173 – 1731MagnesiumBy similarity
    Metal bindingi332 – 3321MagnesiumBy similarity
    Metal bindingi337 – 3371Zinc 2By similarity
    Metal bindingi341 – 3411Zinc 2; via tele nitrogenBy similarity
    Metal bindingi378 – 3781Zinc 1By similarity
    Metal bindingi379 – 3791Zinc 1; via tele nitrogenBy similarity
    Metal bindingi454 – 4541Zinc 2; via tele nitrogenBy similarity

    GO - Molecular functioni

    1. alkaline phosphatase activity Source: UniProtKB-EC
    2. metal ion binding Source: UniProtKB-KW
    3. protein binding Source: IntAct
    4. pyrophosphatase activity Source: MGI

    GO - Biological processi

    1. cellular response to organic cyclic compound Source: Ensembl
    2. cementum mineralization Source: Ensembl
    3. developmental process involved in reproduction Source: Ensembl
    4. endochondral ossification Source: Ensembl
    5. osteoblast differentiation Source: UniProt
    6. response to antibiotic Source: Ensembl
    7. response to glucocorticoid Source: Ensembl
    8. response to lipopolysaccharide Source: Ensembl
    9. response to vitamin D Source: BHF-UCL
    10. skeletal system development Source: ProtInc

    Keywords - Molecular functioni

    Hydrolase

    Keywords - Biological processi

    Biomineralization

    Keywords - Ligandi

    Magnesium, Metal-binding, Zinc

    Enzyme and pathway databases

    BRENDAi3.1.3.1. 2681.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Alkaline phosphatase, tissue-nonspecific isozyme (EC:3.1.3.1)
    Short name:
    AP-TNAP
    Short name:
    TNSALP
    Alternative name(s):
    Alkaline phosphatase liver/bone/kidney isozyme
    Gene namesi
    Name:ALPL
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:438. ALPL.

    Subcellular locationi

    GO - Cellular componenti

    1. anchored component of membrane Source: UniProtKB-KW
    2. extracellular matrix Source: Ensembl
    3. extracellular space Source: Ensembl
    4. extracellular vesicular exosome Source: UniProt
    5. integral component of membrane Source: UniProtKB-KW
    6. membrane Source: UniProt
    7. plasma membrane Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Hypophosphatasia (HOPS) [MIM:146300]: A metabolic bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Four forms are distinguished, depending on the age of onset: perinatal, infantile, childhood and adult type. The perinatal form is the most severe and is almost always fatal. The adult form is mild and characterized by recurrent fractures, osteomalacia, rickets, and loss of teeth. Some cases are asymptomatic, while some patients manifest dental features without skeletal manifestations (odontohypophosphatasia).23 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti17 – 171S → F in HOPS. 1 Publication
    VAR_025903
    Natural varianti28 – 281Y → C in HOPS; infantile; 7% of activity. 1 Publication
    VAR_013972
    Natural varianti33 – 331A → V in HOPS; 7.2% of wild-type activity. 2 Publications
    VAR_006147
    Natural varianti40 – 401A → V in HOPS; 2% of activity. 4 Publications
    VAR_011081
    Natural varianti51 – 511A → S in HOPS. 1 Publication
    VAR_025904
    Natural varianti51 – 511A → V in HOPS. 1 Publication
    VAR_013973
    Natural varianti62 – 621M → L in HOPS; moderate; 27% of activity. 2 Publications
    VAR_006148
    Natural varianti62 – 621M → V in HOPS. 1 Publication
    VAR_025905
    Natural varianti63 – 631G → R in HOPS. 1 Publication
    VAR_025906
    Natural varianti63 – 631G → V in HOPS; loss of activity.
    VAR_013974
    Natural varianti68 – 681T → M in HOPS; childhood-type; severe allele. 1 Publication
    VAR_025907
    Natural varianti71 – 711R → C in HOPS. 1 Publication
    VAR_006149
    Natural varianti71 – 711R → H in HOPS. 2 Publications
    VAR_013975
    Natural varianti71 – 711R → P in HOPS. 1 Publication
    VAR_006150
    Natural varianti71 – 711R → S in HOPS; childhood-type; severe allele. 1 Publication
    VAR_025908
    Natural varianti75 – 751G → S in HOPS; severe; 3.5% of activity. 2 Publications
    VAR_013976
    Natural varianti76 – 761Q → R in HOPS.
    VAR_025909
    Natural varianti108 – 1081P → L in HOPS; 0.4% of wild-type activity; severe allele. 1 Publication
    Corresponds to variant rs28933975 [ dbSNP | Ensembl ].
    VAR_025910
    Natural varianti111 – 1111A → T in HOPS; odonto. 5 Publications
    VAR_006151
    Natural varianti114 – 1141A → G in HOPS. 1 Publication
    VAR_025911
    Natural varianti116 – 1161A → T in HOPS; loss of activity. 2 Publications
    Corresponds to variant rs28933974 [ dbSNP | Ensembl ].
    VAR_013977
    Natural varianti120 – 1201G → R in HOPS. 2 Publications
    VAR_013978
    Natural varianti128 – 1281V → M in HOPS. 1 Publication
    VAR_025912
    Natural varianti129 – 1291G → R in HOPS. 2 Publications
    VAR_013979
    Natural varianti132 – 1321A → V in HOPS. 1 Publication
    VAR_013146
    Natural varianti134 – 1341T → H in HOPS; requires 2 nucleotide substitutions. 1 Publication
    VAR_025913
    Natural varianti134 – 1341T → N in HOPS; 9% of activity. 1 Publication
    VAR_011082
    Natural varianti136 – 1361R → H in HOPS; moderate; 33% of activity. 5 Publications
    VAR_006152
    Natural varianti148 – 1481T → I in HOPS. 1 Publication
    VAR_025914
    Natural varianti152 – 1521R → H in HOPS. 2 Publications
    Corresponds to variant rs149344982 [ dbSNP | Ensembl ].
    VAR_013980
    Natural varianti162 – 1621G → S in HOPS. 1 Publication
    VAR_025915
    Natural varianti162 – 1621G → V in HOPS; severe; 1% of activity. 2 Publications
    VAR_006153
    Natural varianti170 – 1701N → D in HOPS. 2 Publications
    VAR_013981
    Natural varianti171 – 1711H → R in HOPS.
    VAR_025916
    Natural varianti171 – 1711H → Y in HOPS; severe; 2% of activity. 2 Publications
    VAR_006154
    Natural varianti176 – 1761A → T in HOPS. 3 Publications
    Corresponds to variant rs121918019 [ dbSNP | Ensembl ].
    VAR_011083
    Natural varianti177 – 1771A → T in HOPS; adult type; moderate allele. 2 Publications
    Corresponds to variant rs199669988 [ dbSNP | Ensembl ].
    VAR_006155
    Natural varianti179 – 1791A → T in HOPS. 2 Publications
    VAR_006156
    Natural varianti181 – 1811S → L in HOPS; 1% of activity.
    VAR_013982
    Natural varianti184 – 1841R → W in HOPS; loss of activity. 2 Publications
    VAR_013983
    Natural varianti189 – 1891D → E in HOPS. 1 Publication
    VAR_025917
    Natural varianti191 – 1911E → G in HOPS; odonto. 1 Publication
    VAR_006157
    Natural varianti191 – 1911E → K in HOPS; moderate; frequent mutation in European countries. 7 Publications
    Corresponds to variant rs121918007 [ dbSNP | Ensembl ].
    VAR_006158
    Natural varianti201 – 2011C → Y in HOPS. 2 Publications
    VAR_006159
    Natural varianti207 – 2071Q → P in HOPS. 1 Publication
    VAR_006160
    Natural varianti211 – 2111N → D in HOPS. 1 Publication
    VAR_013984
    Natural varianti212 – 2121I → F in HOPS.
    VAR_025918
    Natural varianti220 – 2201G → A in HOPS. 1 Publication
    VAR_025919
    Natural varianti220 – 2201G → V in HOPS; odonto. 1 Publication
    VAR_013985
    Natural varianti223 – 2231R → Q in HOPS. 2 Publications
    VAR_025920
    Natural varianti223 – 2231R → W in HOPS; 3% of activity; severe allele. 5 Publications
    VAR_013986
    Natural varianti224 – 2241K → E in HOPS; infantile; partial loss of activity. 1 Publication
    VAR_011084
    Natural varianti235 – 2351E → G in HOPS. 1 Publication
    VAR_013987
    Natural varianti246 – 2461R → S in HOPS; 4% of activity. 2 Publications
    VAR_011085
    Natural varianti249 – 2491G → V in HOPS; partial loss of activity. 2 Publications
    VAR_013988
    Natural varianti272 – 2721R → H in HOPS; 6.8% of wild-type activity. 1 Publication
    VAR_025921
    Natural varianti272 – 2721R → L in HOPS. 1 Publication
    VAR_025922
    Natural varianti275 – 2751L → P in HOPS; childhood-type; severe allele. 1 Publication
    VAR_025923
    Natural varianti289 – 2891L → F in HOPS. 1 Publication
    VAR_006162
    Natural varianti291 – 2911E → K in HOPS; moderate; 8% of activity. 3 Publications
    VAR_013989
    Natural varianti292 – 2921P → T in HOPS; 4% of wild-type activity. 1 Publication
    VAR_025924
    Natural varianti293 – 2942Missing in HOPS.
    VAR_025925
    Natural varianti294 – 2941D → A in HOPS. 3 Publications
    VAR_006163
    Natural varianti294 – 2941D → Y in HOPS. 1 Publication
    VAR_013990
    Natural varianti295 – 2951M → T in HOPS; 8.5% of wild-type activity. 1 Publication
    VAR_025926
    Natural varianti297 – 2971Y → D in HOPS; 1.3% of wild-type activity. 1 Publication
    VAR_025927
    Natural varianti298 – 2981E → K in HOPS. 1 Publication
    VAR_025928
    Natural varianti299 – 2991L → P in HOPS. 1 Publication
    VAR_025929
    Natural varianti306 – 3061D → V in HOPS. 2 Publications
    VAR_006164
    Natural varianti311 – 3111E → K in HOPS. 1 Publication
    VAR_025930
    Natural varianti326 – 3261G → R in HOPS; in a patient carrying also K-291. 1 Publication
    VAR_013991
    Natural varianti327 – 3271F → G in HOPS; requires 2 nucleotide substitutions. 1 Publication
    VAR_013992
    Natural varianti327 – 3271F → L in HOPS; childhood. 2 Publications
    VAR_006165
    Natural varianti327 – 3271Missing in HOPS. 1 Publication
    VAR_025931
    Natural varianti334 – 3341G → D in HOPS. 4 Publications
    VAR_006166
    Natural varianti339 – 3391G → R in HOPS. 1 Publication
    VAR_025932
    Natural varianti348 – 3481A → T in HOPS. 2 Publications
    VAR_011086
    Natural varianti354 – 3541E → D in HOPS.
    VAR_025933
    Natural varianti378 – 3781D → V in HOPS; loss of activity. 3 Publications
    VAR_006167
    Natural varianti381 – 3811H → R in HOPS. 1 Publication
    VAR_011087
    Natural varianti382 – 3821V → I in HOPS. 1 Publication
    VAR_006168
    Natural varianti391 – 3911R → C in HOPS; moderate; 10% of activity. 1 Publication
    VAR_013993
    Natural varianti391 – 3911R → H in HOPS; childhood-type; severe allele. 1 Publication
    VAR_025934
    Natural varianti399 – 3991A → S in HOPS. 1 Publication
    VAR_013994
    Natural varianti406 – 4061D → G in HOPS; 15% of activity. 1 Publication
    VAR_011088
    Natural varianti411 – 4111T → A in HOPS; absence of residual enzymatic activity. 1 Publication
    VAR_025935
    Natural varianti414 – 4141L → M in HOPS. 2 Publications
    VAR_025936
    Natural varianti417 – 4171N → S in HOPS. 1 Publication
    VAR_025937
    Natural varianti423 – 4231V → A in HOPS; 16% of activity. 1 Publication
    VAR_013995
    Natural varianti426 – 4261G → C in HOPS; infantile; partial loss of activity. 1 Publication
    VAR_011089
    Natural varianti426 – 4261G → D in HOPS. 1 Publication
    VAR_025938
    Natural varianti436 – 4361Y → H in HOPS. 1 Publication
    VAR_006169
    Natural varianti445 – 4451S → P in HOPS; severe; 2% of activity. 2 Publications
    VAR_013996
    Natural varianti450 – 4501R → C in HOPS; severe; 4% of activity. 2 Publications
    VAR_013997
    Natural varianti450 – 4501R → H in HOPS. 1 Publication
    VAR_011090
    Natural varianti452 – 4521E → K in HOPS. 1 Publication
    VAR_025939
    Natural varianti456 – 4561G → R in HOPS; loss of activity. 1 Publication
    VAR_011091
    Natural varianti459 – 4591V → M in HOPS; infantile. 1 Publication
    VAR_013998
    Natural varianti468 – 4681A → T in HOPS. 1 Publication
    VAR_025940
    Natural varianti473 – 4731G → S in HOPS. 2 Publications
    VAR_013999
    Natural varianti476 – 4761E → K in HOPS. 3 Publications
    VAR_006170
    Natural varianti478 – 4781N → I in HOPS; 9% of activity. 1 Publication
    VAR_011092
    Natural varianti489 – 4891C → S in HOPS; 9% of activity. 1 Publication
    VAR_011093
    Natural varianti490 – 4901I → F in HOPS; odonto; partial loss of activity.
    VAR_014000
    Natural varianti491 – 4911G → R in HOPS. 2 Publications
    VAR_014001
    Hypophosphatasia childhood type (HOPSC) [MIM:241510]: A bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase.
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Hypophosphatasia infantile type (HOPSI) [MIM:241500]: A severe bone disease characterized by defective skeletal mineralization and biochemically by deficient activity of the tissue non-specific isoenzyme of alkaline phosphatase. Three more or less distinct types of infantile hypophosphatasia can be identified: (1) type 1 with onset in utero or in early postnatal life, craniostenosis, severe skeletal abnormalities, hypercalcemia, and death in the first year or so of life; (2) type 2 with later, more gradual development of symptoms, moderately severe 'rachitic' skeletal changes and premature loss of teeth; (3) type 3 with no symptoms, the condition being determined on routine studies.
    Note: The disease is caused by mutations affecting the gene represented in this entry.

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi146300. phenotype.
    241500. phenotype.
    241510. phenotype.
    Orphaneti247676. Adult hypophosphatasia.
    247667. Childhood-onset hypophosphatasia.
    247651. Infantile hypophosphatasia.
    247685. Odontohypophosphatasia.
    247623. Perinatal lethal hypophosphatasia.
    247638. Prenatal benign hypophosphatasia.
    PharmGKBiPA24729.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 17172 PublicationsAdd
    BLAST
    Chaini18 – 502485Alkaline phosphatase, tissue-nonspecific isozymePRO_0000024023Add
    BLAST
    Propeptidei503 – 52422Removed in mature formCuratedPRO_0000024024Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi139 ↔ 201By similarity
    Glycosylationi140 – 1401N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi230 – 2301N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi271 – 2711N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi303 – 3031N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi430 – 4301N-linked (GlcNAc...)2 Publications
    Disulfide bondi489 ↔ 497By similarity
    Lipidationi502 – 5021GPI-anchor amidated serineCurated

    Post-translational modificationi

    Glycosylated.2 Publications

    Keywords - PTMi

    Disulfide bond, Glycoprotein, GPI-anchor, Lipoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiP05186.
    PaxDbiP05186.
    PeptideAtlasiP05186.
    PRIDEiP05186.

    PTM databases

    PhosphoSiteiP05186.

    Expressioni

    Gene expression databases

    ArrayExpressiP05186.
    BgeeiP05186.
    GenevestigatoriP05186.

    Organism-specific databases

    HPAiCAB020829.
    HPA007105.
    HPA008765.

    Interactioni

    Subunit structurei

    Homodimer.

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    MAP3K14Q995584EBI-1054354,EBI-358011

    Protein-protein interaction databases

    BioGridi106750. 1 interaction.
    IntActiP05186. 6 interactions.

    Structurei

    3D structure databases

    ProteinModelPortaliP05186.
    SMRiP05186. Positions 18-490.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the alkaline phosphatase family.Curated

    Keywords - Domaini

    Signal, Transmembrane

    Phylogenomic databases

    eggNOGiCOG1785.
    HOVERGENiHBG007345.
    InParanoidiP05186.
    KOiK01077.
    OMAiTWKSFKP.
    OrthoDBiEOG7SN8CH.
    PhylomeDBiP05186.
    TreeFamiTF323513.

    Family and domain databases

    Gene3Di3.40.720.10. 1 hit.
    InterProiIPR017849. Alkaline_Pase-like_a/b/a.
    IPR001952. Alkaline_phosphatase.
    IPR018299. Alkaline_phosphatase_AS.
    IPR017850. Alkaline_phosphatase_core.
    [Graphical view]
    PfamiPF00245. Alk_phosphatase. 1 hit.
    [Graphical view]
    PRINTSiPR00113. ALKPHPHTASE.
    SMARTiSM00098. alkPPc. 1 hit.
    [Graphical view]
    SUPFAMiSSF53649. SSF53649. 1 hit.
    PROSITEiPS00123. ALKALINE_PHOSPHATASE. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: P05186-1) [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

    MISPFLVLAI GTCLTNSLVP EKEKDPKYWR DQAQETLKYA LELQKLNTNV    50
    AKNVIMFLGD GMGVSTVTAA RILKGQLHHN PGEETRLEMD KFPFVALSKT 100
    YNTNAQVPDS AGTATAYLCG VKANEGTVGV SAATERSRCN TTQGNEVTSI 150
    LRWAKDAGKS VGIVTTTRVN HATPSAAYAH SADRDWYSDN EMPPEALSQG 200
    CKDIAYQLMH NIRDIDVIMG GGRKYMYPKN KTDVEYESDE KARGTRLDGL 250
    DLVDTWKSFK PRYKHSHFIW NRTELLTLDP HNVDYLLGLF EPGDMQYELN 300
    RNNVTDPSLS EMVVVAIQIL RKNPKGFFLL VEGGRIDHGH HEGKAKQALH 350
    EAVEMDRAIG QAGSLTSSED TLTVVTADHS HVFTFGGYTP RGNSIFGLAP 400
    MLSDTDKKPF TAILYGNGPG YKVVGGEREN VSMVDYAHNN YQAQSAVPLR 450
    HETHGGEDVA VFSKGPMAHL LHGVHEQNYV PHVMAYAACI GANLGHCAPA 500
    SSAGSLAAGP LLLALALYPL SVLF 524
    Length:524
    Mass (Da):57,305
    Last modified:June 21, 2005 - v4
    Checksum:i71B45F17F6211900
    GO
    Isoform 2 (identifier: P05186-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-99: MISPFLVLAI...DKFPFVALSK → MPWSFRSSTPTWLRMSSCSWEM

    Note: No experimental confirmation available.

    Show »
    Length:447
    Mass (Da):48,909
    Checksum:i4433599B70DBDB88
    GO
    Isoform 3 (identifier: P05186-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-55: Missing.

    Show »
    Length:469
    Mass (Da):51,045
    Checksum:iD57207402F616985
    GO

    Sequence cautioni

    The sequence BAD93051.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti29 – 291W → A AA sequence (PubMed:3954357)Curated
    Sequence conflicti104 – 1041N → K in CAA32376. (PubMed:2928120)Curated
    Sequence conflicti361 – 3611Q → H in BAA32129. (PubMed:3532105)Curated
    Sequence conflicti446 – 4461A → P in BAA32129. (PubMed:3532105)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti17 – 171S → F in HOPS. 1 Publication
    VAR_025903
    Natural varianti28 – 281Y → C in HOPS; infantile; 7% of activity. 1 Publication
    VAR_013972
    Natural varianti33 – 331A → V in HOPS; 7.2% of wild-type activity. 2 Publications
    VAR_006147
    Natural varianti40 – 401A → V in HOPS; 2% of activity. 4 Publications
    VAR_011081
    Natural varianti51 – 511A → S in HOPS. 1 Publication
    VAR_025904
    Natural varianti51 – 511A → V in HOPS. 1 Publication
    VAR_013973
    Natural varianti62 – 621M → L in HOPS; moderate; 27% of activity. 2 Publications
    VAR_006148
    Natural varianti62 – 621M → V in HOPS. 1 Publication
    VAR_025905
    Natural varianti63 – 631G → R in HOPS. 1 Publication
    VAR_025906
    Natural varianti63 – 631G → V in HOPS; loss of activity.
    VAR_013974
    Natural varianti68 – 681T → M in HOPS; childhood-type; severe allele. 1 Publication
    VAR_025907
    Natural varianti71 – 711R → C in HOPS. 1 Publication
    VAR_006149
    Natural varianti71 – 711R → H in HOPS. 2 Publications
    VAR_013975
    Natural varianti71 – 711R → P in HOPS. 1 Publication
    VAR_006150
    Natural varianti71 – 711R → S in HOPS; childhood-type; severe allele. 1 Publication
    VAR_025908
    Natural varianti75 – 751G → S in HOPS; severe; 3.5% of activity. 2 Publications
    VAR_013976
    Natural varianti76 – 761Q → R in HOPS.
    VAR_025909
    Natural varianti108 – 1081P → L in HOPS; 0.4% of wild-type activity; severe allele. 1 Publication
    Corresponds to variant rs28933975 [ dbSNP | Ensembl ].
    VAR_025910
    Natural varianti111 – 1111A → T in HOPS; odonto. 5 Publications
    VAR_006151
    Natural varianti114 – 1141A → G in HOPS. 1 Publication
    VAR_025911
    Natural varianti116 – 1161A → T in HOPS; loss of activity. 2 Publications
    Corresponds to variant rs28933974 [ dbSNP | Ensembl ].
    VAR_013977
    Natural varianti120 – 1201G → R in HOPS. 2 Publications
    VAR_013978
    Natural varianti128 – 1281V → M in HOPS. 1 Publication
    VAR_025912
    Natural varianti129 – 1291G → R in HOPS. 2 Publications
    VAR_013979
    Natural varianti132 – 1321A → V in HOPS. 1 Publication
    VAR_013146
    Natural varianti134 – 1341T → H in HOPS; requires 2 nucleotide substitutions. 1 Publication
    VAR_025913
    Natural varianti134 – 1341T → N in HOPS; 9% of activity. 1 Publication
    VAR_011082
    Natural varianti136 – 1361R → H in HOPS; moderate; 33% of activity. 5 Publications
    VAR_006152
    Natural varianti148 – 1481T → I in HOPS. 1 Publication
    VAR_025914
    Natural varianti152 – 1521R → H in HOPS. 2 Publications
    Corresponds to variant rs149344982 [ dbSNP | Ensembl ].
    VAR_013980
    Natural varianti162 – 1621G → S in HOPS. 1 Publication
    VAR_025915
    Natural varianti162 – 1621G → V in HOPS; severe; 1% of activity. 2 Publications
    VAR_006153
    Natural varianti170 – 1701N → D in HOPS. 2 Publications
    VAR_013981
    Natural varianti171 – 1711H → R in HOPS.
    VAR_025916
    Natural varianti171 – 1711H → Y in HOPS; severe; 2% of activity. 2 Publications
    VAR_006154
    Natural varianti176 – 1761A → T in HOPS. 3 Publications
    Corresponds to variant rs121918019 [ dbSNP | Ensembl ].
    VAR_011083
    Natural varianti177 – 1771A → T in HOPS; adult type; moderate allele. 2 Publications
    Corresponds to variant rs199669988 [ dbSNP | Ensembl ].
    VAR_006155
    Natural varianti179 – 1791A → T in HOPS. 2 Publications
    VAR_006156
    Natural varianti181 – 1811S → L in HOPS; 1% of activity.
    VAR_013982
    Natural varianti184 – 1841R → W in HOPS; loss of activity. 2 Publications
    VAR_013983
    Natural varianti189 – 1891D → E in HOPS. 1 Publication
    VAR_025917
    Natural varianti191 – 1911E → G in HOPS; odonto. 1 Publication
    VAR_006157
    Natural varianti191 – 1911E → K in HOPS; moderate; frequent mutation in European countries. 7 Publications
    Corresponds to variant rs121918007 [ dbSNP | Ensembl ].
    VAR_006158
    Natural varianti201 – 2011C → Y in HOPS. 2 Publications
    VAR_006159
    Natural varianti207 – 2071Q → P in HOPS. 1 Publication
    VAR_006160
    Natural varianti211 – 2111N → D in HOPS. 1 Publication
    VAR_013984
    Natural varianti212 – 2121I → F in HOPS.
    VAR_025918
    Natural varianti220 – 2201G → A in HOPS. 1 Publication
    VAR_025919
    Natural varianti220 – 2201G → V in HOPS; odonto. 1 Publication
    VAR_013985
    Natural varianti223 – 2231R → Q in HOPS. 2 Publications
    VAR_025920
    Natural varianti223 – 2231R → W in HOPS; 3% of activity; severe allele. 5 Publications
    VAR_013986
    Natural varianti224 – 2241K → E in HOPS; infantile; partial loss of activity. 1 Publication
    VAR_011084
    Natural varianti235 – 2351E → G in HOPS. 1 Publication
    VAR_013987
    Natural varianti246 – 2461R → S in HOPS; 4% of activity. 2 Publications
    VAR_011085
    Natural varianti249 – 2491G → V in HOPS; partial loss of activity. 2 Publications
    VAR_013988
    Natural varianti263 – 2631Y → H Common polymorphism. 5 Publications
    Corresponds to variant rs3200254 [ dbSNP | Ensembl ].
    VAR_006161
    Natural varianti272 – 2721R → H in HOPS; 6.8% of wild-type activity. 1 Publication
    VAR_025921
    Natural varianti272 – 2721R → L in HOPS. 1 Publication
    VAR_025922
    Natural varianti275 – 2751L → P in HOPS; childhood-type; severe allele. 1 Publication
    VAR_025923
    Natural varianti289 – 2891L → F in HOPS. 1 Publication
    VAR_006162
    Natural varianti291 – 2911E → K in HOPS; moderate; 8% of activity. 3 Publications
    VAR_013989
    Natural varianti292 – 2921P → T in HOPS; 4% of wild-type activity. 1 Publication
    VAR_025924
    Natural varianti293 – 2942Missing in HOPS.
    VAR_025925
    Natural varianti294 – 2941D → A in HOPS. 3 Publications
    VAR_006163
    Natural varianti294 – 2941D → Y in HOPS. 1 Publication
    VAR_013990
    Natural varianti295 – 2951M → T in HOPS; 8.5% of wild-type activity. 1 Publication
    VAR_025926
    Natural varianti297 – 2971Y → D in HOPS; 1.3% of wild-type activity. 1 Publication
    VAR_025927
    Natural varianti298 – 2981E → K in HOPS. 1 Publication
    VAR_025928
    Natural varianti299 – 2991L → P in HOPS. 1 Publication
    VAR_025929
    Natural varianti306 – 3061D → V in HOPS. 2 Publications
    VAR_006164
    Natural varianti311 – 3111E → K in HOPS. 1 Publication
    VAR_025930
    Natural varianti326 – 3261G → R in HOPS; in a patient carrying also K-291. 1 Publication
    VAR_013991
    Natural varianti327 – 3271F → G in HOPS; requires 2 nucleotide substitutions. 1 Publication
    VAR_013992
    Natural varianti327 – 3271F → L in HOPS; childhood. 2 Publications
    VAR_006165
    Natural varianti327 – 3271Missing in HOPS. 1 Publication
    VAR_025931
    Natural varianti334 – 3341G → D in HOPS. 4 Publications
    VAR_006166
    Natural varianti339 – 3391G → R in HOPS. 1 Publication
    VAR_025932
    Natural varianti348 – 3481A → T in HOPS. 2 Publications
    VAR_011086
    Natural varianti354 – 3541E → D in HOPS.
    VAR_025933
    Natural varianti378 – 3781D → V in HOPS; loss of activity. 3 Publications