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Results for the Protein: P05186
68067533
249

PPBT_HUMAN RecName: Full=Alkaline phosphatase, tissue-nonspecific isozyme; Short=AP-TNAP; Short=TNSALP; AltName: Full=Alkaline phosphatase liver/bone/kidney isozyme; Flags: Precursor

Known Diseases associated with this Protein:
  HYPOPHOSPHATASIA (HOPS)
  HYPOPHOSPHATASIA, ADULT
  HYPOPHOSPHATASIA, ADULT, INCLUDED
  HYPOPHOSPHATASIA, ADULT, INCLUDED;;
  HYPOPHOSPHATASIA, CHILDHOOD
  HYPOPHOSPHATASIA, CHILDHOOD, INCLUDED
  HYPOPHOSPHATASIA, CHILDHOOD, INCLUDED;;
  HYPOPHOSPHATASIA, INFANTILE
  ODONTOHYPOPHOSPHATASIA
  ODONTOHYPOPHOSPHATASIA, INCLUDED
124
2
21
2
103
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alkPPc - smart00098


Swiss-Prot Protein: P05186
Identical to: NP_000469
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_025911Diseasep.ALA114GLYHypophosphatasia (HOPS)
Swiss-ProtVAR_013994Diseasep.ALA399SERHypophosphatasia (HOPS)
Swiss-ProtVAR_025904Diseasep.ALA51SERHypophosphatasia (HOPS)
Swiss-ProtVAR_006151Diseasep.ALA111THRHypophosphatasia (HOPS)
Swiss-ProtVAR_013977Diseasep.ALA116THRHypophosphatasia (HOPS)
Swiss-ProtVAR_011083Diseasep.ALA176THRHypophosphatasia (HOPS)
Swiss-ProtVAR_006155Diseasep.ALA177THRHypophosphatasia (HOPS)
Swiss-ProtVAR_006156Diseasep.ALA179THRHypophosphatasia (HOPS)
Swiss-ProtVAR_011086Diseasep.ALA348THRHypophosphatasia (HOPS)
Swiss-ProtVAR_025940Diseasep.ALA468THRHypophosphatasia (HOPS)
Swiss-ProtVAR_013146Diseasep.ALA132VALHypophosphatasia (HOPS)
Swiss-ProtVAR_006147Diseasep.ALA33VALHypophosphatasia (HOPS)
Swiss-ProtVAR_011081Diseasep.ALA40VALHypophosphatasia (HOPS)
Swiss-ProtVAR_013973Diseasep.ALA51VALHypophosphatasia (HOPS)
Swiss-ProtVAR_013993Diseasep.ARG391CYSHypophosphatasia (HOPS)
Swiss-ProtVAR_013997Diseasep.ARG450CYSHypophosphatasia (HOPS)
Swiss-ProtVAR_006149Diseasep.ARG71CYSHypophosphatasia (HOPS)
Swiss-ProtVAR_025920Diseasep.ARG223GLNHypophosphatasia (HOPS)
Swiss-ProtVAR_006152Diseasep.ARG136HISHypophosphatasia (HOPS)
Swiss-ProtVAR_013980Diseasep.ARG152HISHypophosphatasia (HOPS)
Swiss-ProtVAR_025921Diseasep.ARG272HISHypophosphatasia (HOPS)
Swiss-ProtVAR_025934Diseasep.ARG391HISHypophosphatasia (HOPS)
Swiss-ProtVAR_011090Diseasep.ARG450HISHypophosphatasia (HOPS)
Swiss-ProtVAR_013975Diseasep.ARG71HISHypophosphatasia (HOPS)
Swiss-ProtVAR_025922Diseasep.ARG272LEUHypophosphatasia (HOPS)
Swiss-ProtVAR_006150Diseasep.ARG71PROHypophosphatasia (HOPS)
Swiss-ProtVAR_011085Diseasep.ARG246SERHypophosphatasia (HOPS)
Swiss-ProtVAR_025908Diseasep.ARG71SERHypophosphatasia (HOPS)
Swiss-ProtVAR_013983Diseasep.ARG184TRPHypophosphatasia (HOPS)
Swiss-ProtVAR_013986Diseasep.ARG223TRPHypophosphatasia (HOPS)
Swiss-ProtVAR_013981Diseasep.ASN170ASPHypophosphatasia (HOPS)
Swiss-ProtVAR_013984Diseasep.ASN211ASPHypophosphatasia (HOPS)
Swiss-ProtVAR_011092Diseasep.ASN478ILEHypophosphatasia (HOPS)
Swiss-ProtVAR_025937Diseasep.ASN417SERHypophosphatasia (HOPS)
Swiss-ProtVAR_006163Diseasep.ASP294ALAHypophosphatasia (HOPS)
Swiss-ProtVAR_025917Diseasep.ASP189GLUHypophosphatasia (HOPS)
Swiss-ProtVAR_011088Diseasep.ASP406GLYHypophosphatasia (HOPS)
Swiss-ProtVAR_013990Diseasep.ASP294TYRHypophosphatasia (HOPS)
Swiss-ProtVAR_006164Diseasep.ASP306VALHypophosphatasia (HOPS)
Swiss-ProtVAR_006167Diseasep.ASP378VALHypophosphatasia (HOPS)
Swiss-ProtVAR_011093Diseasep.CYS489SERHypophosphatasia (HOPS)
Swiss-ProtVAR_006159Diseasep.CYS201TYRHypophosphatasia (HOPS)
Swiss-ProtVAR_025909Diseasep.GLN76ARGHypophosphatasia (HOPS)
Swiss-ProtVAR_006160Diseasep.GLN207PROHypophosphatasia (HOPS)
Swiss-ProtVAR_025933Diseasep.GLU354ASPHypophosphatasia (HOPS)
Swiss-ProtVAR_006157Diseasep.GLU191GLYHypophosphatasia (HOPS)
Swiss-ProtVAR_013987Diseasep.GLU235GLYHypophosphatasia (HOPS)
Swiss-ProtVAR_006158Diseasep.GLU191LYSHypophosphatasia (HOPS)
Swiss-ProtVAR_013989Diseasep.GLU291LYSHypophosphatasia (HOPS)
Swiss-ProtVAR_025928Diseasep.GLU298LYSHypophosphatasia (HOPS)
Swiss-ProtVAR_025930Diseasep.GLU311LYSHypophosphatasia (HOPS)
Swiss-ProtVAR_025939Diseasep.GLU452LYSHypophosphatasia (HOPS)
Swiss-ProtVAR_006170Diseasep.GLU476LYSHypophosphatasia (HOPS)
Swiss-ProtVAR_025919Diseasep.GLY220ALAHypophosphatasia (HOPS)
Swiss-ProtVAR_013978Diseasep.GLY120ARGHypophosphatasia (HOPS)
Swiss-ProtVAR_013979Diseasep.GLY129ARGHypophosphatasia (HOPS)
Swiss-ProtVAR_013991Diseasep.GLY326ARGHypophosphatasia (HOPS)
Swiss-ProtVAR_025932Diseasep.GLY339ARGHypophosphatasia (HOPS)
Swiss-ProtVAR_011091Diseasep.GLY456ARGHypophosphatasia (HOPS)
Swiss-ProtVAR_014001Diseasep.GLY491ARGHypophosphatasia (HOPS)
Swiss-ProtVAR_025906Diseasep.GLY63ARGHypophosphatasia (HOPS)
Swiss-ProtVAR_006166Diseasep.GLY334ASPHypophosphatasia (HOPS)
Swiss-ProtVAR_025938Diseasep.GLY426ASPHypophosphatasia (HOPS)
Swiss-ProtVAR_011089Diseasep.GLY426CYSHypophosphatasia (HOPS)
Swiss-ProtVAR_025915Diseasep.GLY162SERHypophosphatasia (HOPS)
Swiss-ProtVAR_013999Diseasep.GLY473SERHypophosphatasia (HOPS)
Swiss-ProtVAR_013976Diseasep.GLY75SERHypophosphatasia (HOPS)
Swiss-ProtVAR_006153Diseasep.GLY162VALHypophosphatasia (HOPS)
Swiss-ProtVAR_013985Diseasep.GLY220VALHypophosphatasia (HOPS)
Swiss-ProtVAR_013988Diseasep.GLY249VALHypophosphatasia (HOPS)
Swiss-ProtVAR_013974Diseasep.GLY63VALHypophosphatasia (HOPS)
Swiss-ProtVAR_025916Diseasep.HIS171ARGHypophosphatasia (HOPS)
Swiss-ProtVAR_011087Diseasep.HIS381ARGHypophosphatasia (HOPS)
Swiss-ProtVAR_006154Diseasep.HIS171TYRHypophosphatasia (HOPS)
Swiss-ProtVAR_025918Diseasep.ILE212PHEHypophosphatasia (HOPS)
Swiss-ProtVAR_014000Diseasep.ILE490PHEHypophosphatasia (HOPS)
Swiss-ProtVAR_025936Diseasep.LEU414METHypophosphatasia (HOPS)
Swiss-ProtVAR_006162Diseasep.LEU289PHEHypophosphatasia (HOPS)
Swiss-ProtVAR_025923Diseasep.LEU275PROHypophosphatasia (HOPS)
Swiss-ProtVAR_025929Diseasep.LEU299PROHypophosphatasia (HOPS)
Swiss-ProtVAR_011084Diseasep.LYS224GLUHypophosphatasia (HOPS)
Swiss-ProtVAR_006148Diseasep.MET62LEUHypophosphatasia (HOPS)
Swiss-ProtVAR_025926Diseasep.MET295THRHypophosphatasia (HOPS)
Swiss-ProtVAR_025905Diseasep.MET62VALHypophosphatasia (HOPS)
Swiss-ProtVAR_013992Diseasep.PHE327GLYHypophosphatasia (HOPS)
Swiss-ProtVAR_006165Diseasep.PHE327LEUHypophosphatasia (HOPS)
Swiss-ProtVAR_025910Diseasep.PRO108LEUHypophosphatasia (HOPS)
Swiss-ProtVAR_025924Diseasep.PRO292THRHypophosphatasia (HOPS)
Swiss-ProtVAR_013982Diseasep.SER181LEUHypophosphatasia (HOPS)
Swiss-ProtVAR_025903Diseasep.SER17PHEHypophosphatasia (HOPS)
Swiss-ProtVAR_013996Diseasep.SER445PROHypophosphatasia (HOPS)
Swiss-ProtVAR_025935Diseasep.THR411ALAHypophosphatasia (HOPS)
Swiss-ProtVAR_011082Diseasep.THR134ASNHypophosphatasia (HOPS)
Swiss-ProtVAR_025913Diseasep.THR134HISHypophosphatasia (HOPS)
Swiss-ProtVAR_025914Diseasep.THR148ILEHypophosphatasia (HOPS)
Swiss-ProtVAR_025907Diseasep.THR68METHypophosphatasia (HOPS)
Swiss-ProtVAR_025927Diseasep.TYR297ASPHypophosphatasia (HOPS)
Swiss-ProtVAR_013972Diseasep.TYR28CYSHypophosphatasia (HOPS)
dbSNPrs3200254 Polymorphismp.TYR263HISN/A
Swiss-ProtVAR_006169Diseasep.TYR436HISHypophosphatasia (HOPS)
Swiss-ProtVAR_013995Diseasep.VAL423ALAHypophosphatasia (HOPS)
dbSNPrs34605986 Polymorphismp.VAL522ALAN/A
Swiss-ProtVAR_006168Diseasep.VAL382ILEHypophosphatasia (HOPS)
Swiss-ProtVAR_025912Diseasep.VAL128METHypophosphatasia (HOPS)
Swiss-ProtVAR_013998Diseasep.VAL459METHypophosphatasia (HOPS)
OMIM171760.0001 Diseasep.ALA162THRHYPOPHOSPHATASIA, INFANTILE
OMIM171760.0022 Diseasep.ALA176THRHYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD, INCLUDED
OMIM171760.0015 Diseasep.ALA99THRHYPOPHOSPHATASIA, CHILDHOOD||HYPOPHOSPHATASIA, ADULT, INCLUDED;;||ODONTOHYPOPHOSPHATASIA, INCLUDED
OMIM171760.0006 Diseasep.ALA16VALHYPOPHOSPHATASIA, INFANTILE
OMIM171760.0023 Diseasep.ARG272CYSHYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD, INCLUDED
OMIM171760.0002 Diseasep.ARG54CYSHYPOPHOSPHATASIA, INFANTILE
OMIM171760.0013 Diseasep.ARG119HISHYPOPHOSPHATASIA, CHILDHOOD
OMIM171760.0004 Diseasep.ARG54PROHYPOPHOSPHATASIA, INFANTILE
OMIM171760.0017 Diseasep.ASN400SERHYPOPHOSPHATASIA, INFANTILE
OMIM171760.0003 Diseasep.ASP277ALAHYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD, INCLUDED;;||HYPOPHOSPHATASIA, ADULT, INCLUDED
OMIM171760.0009 Diseasep.ASP378VALHYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, ADULT, INCLUDED
OMIM171760.0005 Diseasep.GLN190PROHYPOPHOSPHATASIA, INFANTILE
OMIM171760.0008 Diseasep.GLU174LYSHYPOPHOSPHATASIA, INFANTILE||HYPOPHOSPHATASIA, CHILDHOOD, INCLUDED;;||HYPOPHOSPHATASIA, ADULT
OMIM171760.0020 Diseasep.GLU281LYSHYPOPHOSPHATASIA, INFANTILE
OMIM171760.0019 Diseasep.GLY439ARGHYPOPHOSPHATASIA, INFANTILE
OMIM171760.0010 Diseasep.GLY317ASPHYPOPHOSPHATASIA, INFANTILE
OMIM171760.0014 Diseasep.GLY145VALHYPOPHOSPHATASIA, CHILDHOOD
OMIM171760.0021 Diseasep.GLY232VALHYPOPHOSPHATASIA, CHILDHOOD||ODONTOHYPOPHOSPHATASIA, INCLUDED
OMIM171760.0011 Diseasep.PHE310LEUHYPOPHOSPHATASIA, INFANTILE
OMIM171760.0018 Diseasep.PRO91LEUODONTOHYPOPHOSPHATASIA
OMIM171760.0007 Diseasep.TYR419HISHYPOPHOSPHATASIA, INFANTILE



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