Results for the protein: Q9HAT2

Results for the Protein: Q9HAT2

74734243

54414

SIAE

NCBI, UniProt

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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Default View: DUF303 - pfam03629	Swiss-Prot Protein: Q9HAT2 Identical to: NP_733746 Default View:

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-Prot	VAR_064438	Polymorphism	p.ALA3GLY	N/A
dbSNP	rs7941523	Polymorphism	p.ALA467VAL	N/A
Swiss-Prot	VAR_064458	Disease	p.ARG479CYS	Autoimmune disease 6 (AIS6)
Swiss-Prot	VAR_064450	Polymorphism	p.ARG314HIS	N/A
Swiss-Prot	VAR_064452	Disease	p.ARG393HIS	Autoimmune disease 6 (AIS6)
Swiss-Prot	VAR_064440	Polymorphism	p.ARG62HIS	N/A
Swiss-Prot	VAR_064446	Disease	p.ARG230TRP	Autoimmune disease 6 (AIS6)
Swiss-Prot	VAR_064439	Polymorphism	p.ASN33SER	N/A
Swiss-Prot	VAR_064447	Disease	p.CYS266GLY	Autoimmune disease 6 (AIS6)
Swiss-Prot	VAR_064444	Disease	p.CYS196PHE	Autoimmune disease 6 (AIS6)
Swiss-Prot	VAR_064457	Polymorphism	p.GLN462ARG	N/A
Swiss-Prot	VAR_064443	Polymorphism	p.GLN161LYS	N/A
Swiss-Prot	VAR_064448	Disease	p.GLN309PRO	Autoimmune disease 6 (AIS6)
Swiss-Prot	VAR_064445	Disease	p.GLY212ARG	Autoimmune disease 6 (AIS6)
dbSNP	rs76655561	Polymorphism	p.GLY64SER	N/A
Swiss-Prot	VAR_064455	Polymorphism	p.HIS447ARG	N/A
dbSNP	rs12282107	Polymorphism	p.LYS71ARG	N/A
Swiss-Prot	VAR_064453	Polymorphism	p.LYS400ASN	N/A
Swiss-Prot	VAR_064456	Polymorphism	p.MET456ILE	N/A
dbSNP	rs78778622	Polymorphism	p.MET89VAL	N/A
Swiss-Prot	VAR_064454	Disease	p.PHE404SER	Autoimmune disease 6 (AIS6)
Swiss-Prot	VAR_064449	Polymorphism	p.THR312MET	N/A
Swiss-Prot	VAR_064451	Disease	p.TYR349CYS	Autoimmune disease 6 (AIS6)
OMIM	610079.0002	Disease	p.CYS196PHE	AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
OMIM	610079.0003	Disease	p.MET89VAL	AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
OMIM	610079.0004	Disease	p.PHE404SER	AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
OMIM	610079.0001	Disease	p.THR312MET	AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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