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P05186

- PPBT_HUMAN

UniProt

P05186 - PPBT_HUMAN

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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

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. 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
Complete GO annotation...

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: UniProtKB
  5. integral component of membrane Source: UniProtKB-KW
  6. membrane Source: UniProt
  7. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

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...)1 Publication
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

BgeeiP05186.
ExpressionAtlasiP05186. baseline and differential.
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. 2 interactions.
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.
GeneTreeiENSGT00390000008704.
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

        10         20         30         40         50
MISPFLVLAI GTCLTNSLVP EKEKDPKYWR DQAQETLKYA LELQKLNTNV
60 70 80 90 100
AKNVIMFLGD GMGVSTVTAA RILKGQLHHN PGEETRLEMD KFPFVALSKT
110 120 130 140 150
YNTNAQVPDS AGTATAYLCG VKANEGTVGV SAATERSRCN TTQGNEVTSI
160 170 180 190 200
LRWAKDAGKS VGIVTTTRVN HATPSAAYAH SADRDWYSDN EMPPEALSQG
210 220 230 240 250
CKDIAYQLMH NIRDIDVIMG GGRKYMYPKN KTDVEYESDE KARGTRLDGL
260 270 280 290 300
DLVDTWKSFK PRYKHSHFIW NRTELLTLDP HNVDYLLGLF EPGDMQYELN
310 320 330 340 350
RNNVTDPSLS EMVVVAIQIL RKNPKGFFLL VEGGRIDHGH HEGKAKQALH
360 370 380 390 400
EAVEMDRAIG QAGSLTSSED TLTVVTADHS HVFTFGGYTP RGNSIFGLAP
410 420 430 440 450
MLSDTDKKPF TAILYGNGPG YKVVGGEREN VSMVDYAHNN YQAQSAVPLR
460 470 480 490 500
HETHGGEDVA VFSKGPMAHL LHGVHEQNYV PHVMAYAACI GANLGHCAPA
510 520
SSAGSLAAGP LLLALALYPL SVLF
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