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Results for the Protein: Q13510
239938949
427

ASAH1_HUMAN RecName: Full=Acid ceramidase; Short=AC; Short=ACDase; Short=Acid CDase; AltName: Full=Acylsphingosine deacylase; AltName: Full=N-acylsphingosine amidohydrolase; AltName: Full=Putative 32 kDa heart protein; Short=PHP32; Contains: RecName: Full=Acid ceramidase subunit alpha; Contains: RecName: Full=Acid ceramidase subunit beta; Flags: Precursor

Known Diseases associated with this Protein:
  FARBER LIPOGRANULOMATOSIS
  FARBER LIPOGRANULOMATOSIS (FL)
  SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (SMAPME)
16
7
4
4
15
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Default View:

Ntn_AC_NAAA - cd01903
CBAH - pfam02275
Ntn_hydrolase - cd01901
Ntn_CGH_like - cd01935


Swiss-Prot Protein: Q13510
Identical to: NP_808592
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ntn_hydrolasecd019010.00054143360
Ntn_CGH_likecd019357.1e-72143375
CBAHpfam022752.6e-127143394

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_057979Polymorphismp.ALA70VALN/A
Swiss-ProtVAR_021584Diseasep.ARG254GLYFarber lipogranulomatosis (FL)
Swiss-ProtVAR_021585Diseasep.ASN320ASPFarber lipogranulomatosis (FL)
dbSNPrs2472205 Polymorphismp.ASP124GLUN/A
Swiss-ProtVAR_038166Diseasep.GLN22HISFarber lipogranulomatosis (FL)
Swiss-ProtVAR_021582Diseasep.GLU138VALFarber lipogranulomatosis (FL)
Swiss-ProtVAR_021583Diseasep.GLY235ARGFarber lipogranulomatosis (FL)
Swiss-ProtVAR_038167Diseasep.HIS23ASPFarber lipogranulomatosis (FL)
dbSNPrs1049874 Polymorphismp.ILE93VALN/A
Swiss-ProtVAR_038169Diseasep.LEU182VALFarber lipogranulomatosis (FL)
Swiss-ProtVAR_021586Diseasep.PRO362ARGFarber lipogranulomatosis (FL)
Swiss-ProtVAR_008862Diseasep.THR222LYSFarber lipogranulomatosis (FL)
Swiss-ProtVAR_068722Diseasep.THR42METSpinal muscular atrophy with progressive myoclonic epilepsy (SMAPME)
Swiss-ProtVAR_021579Diseasep.TYR36CYSFarber lipogranulomatosis (FL)
dbSNPrs10103355 Polymorphismp.VAL246ALAN/A
Swiss-ProtVAR_021581Diseasep.VAL97GLUFarber lipogranulomatosis (FL)
Swiss-ProtVAR_021587Polymorphismp.VAL369ILEN/A
dbSNPrs1071645 Polymorphismp.VAL72METN/A
Swiss-ProtVAR_057980Polymorphismp.VAL88METN/A
OMIM613468.0004 Diseasep.ASN304ASPFARBER LIPOGRANULOMATOSIS
OMIM613468.0002 Diseasep.GLU122VALFARBER LIPOGRANULOMATOSIS
OMIM613468.0005 Diseasep.LEU166VALFARBER LIPOGRANULOMATOSIS
OMIM613468.0001 Diseasep.THR206LYSFARBER LIPOGRANULOMATOSIS



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