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Results for the Protein: Q9HAT2
74734243

SIAE_HUMAN RecName: Full=Sialate O-acetylesterase; AltName: Full=H-Lse; AltName: Full=Sialic acid-specific 9-O-acetylesterase; Flags: Precursor

Known Diseases associated with this Protein:
  AUTOIMMUNE DISEASE 6 (AIS6)
  AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
13
14
4
4
19
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DUF303 - pfam03629


Swiss-Prot Protein: Q9HAT2
Identical to: NP_733746
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DUF303pfam036298e-51193305

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_064438Polymorphismp.ALA3GLYN/A
dbSNPrs7941523 Polymorphismp.ALA467VALN/A
Swiss-ProtVAR_064458Diseasep.ARG479CYSAutoimmune disease 6 (AIS6)
Swiss-ProtVAR_064450Polymorphismp.ARG314HISN/A
Swiss-ProtVAR_064452Diseasep.ARG393HISAutoimmune disease 6 (AIS6)
Swiss-ProtVAR_064440Polymorphismp.ARG62HISN/A
Swiss-ProtVAR_064446Diseasep.ARG230TRPAutoimmune disease 6 (AIS6)
Swiss-ProtVAR_064439Polymorphismp.ASN33SERN/A
Swiss-ProtVAR_064447Diseasep.CYS266GLYAutoimmune disease 6 (AIS6)
Swiss-ProtVAR_064444Diseasep.CYS196PHEAutoimmune disease 6 (AIS6)
Swiss-ProtVAR_064457Polymorphismp.GLN462ARGN/A
Swiss-ProtVAR_064443Polymorphismp.GLN161LYSN/A
Swiss-ProtVAR_064448Diseasep.GLN309PROAutoimmune disease 6 (AIS6)
Swiss-ProtVAR_064445Diseasep.GLY212ARGAutoimmune disease 6 (AIS6)
dbSNPrs76655561 Polymorphismp.GLY64SERN/A
Swiss-ProtVAR_064455Polymorphismp.HIS447ARGN/A
dbSNPrs12282107 Polymorphismp.LYS71ARGN/A
Swiss-ProtVAR_064453Polymorphismp.LYS400ASNN/A
Swiss-ProtVAR_064456Polymorphismp.MET456ILEN/A
dbSNPrs78778622 Polymorphismp.MET89VALN/A
Swiss-ProtVAR_064454Diseasep.PHE404SERAutoimmune disease 6 (AIS6)
Swiss-ProtVAR_064449Polymorphismp.THR312METN/A
Swiss-ProtVAR_064451Diseasep.TYR349CYSAutoimmune disease 6 (AIS6)
OMIM610079.0002 Diseasep.CYS196PHEAUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
OMIM610079.0003 Diseasep.MET89VALAUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
OMIM610079.0004 Diseasep.PHE404SERAUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
OMIM610079.0001 Diseasep.THR312METAUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6



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