Results for the protein: P51690

Results for the Protein: P51690

77416850

415

ARSE

NCBI, UniProt

ARSE_HUMAN RecName: Full=Arylsulfatase E; Short=ASE; Flags: Precursor

Known Diseases associated with this Protein:
CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (CDPX1)

9

3

0

3

9

Tips:

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Default View: AslA - COG3119 Sulfatase - pfam00884	Swiss-Prot Protein: P51690 Identical to: NP_000038 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Sulfatase	pfam00884	1.3e-86	38	525

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs34412194	Polymorphism	p.ARG183HIS	N/A
Swiss-Prot	VAR_007308	Disease	p.ARG111PRO	Chondrodysplasia punctata 1, X-linked recessive (CDPX1)
Swiss-Prot	VAR_007307	Disease	p.ARG12SER	Chondrodysplasia punctata 1, X-linked recessive (CDPX1)
Swiss-Prot	VAR_007312	Disease	p.CYS492TYR	Chondrodysplasia punctata 1, X-linked recessive (CDPX1)
Swiss-Prot	VAR_007309	Disease	p.GLY117ARG	Chondrodysplasia punctata 1, X-linked recessive (CDPX1)
Swiss-Prot	VAR_007311	Disease	p.GLY245ARG	Chondrodysplasia punctata 1, X-linked recessive (CDPX1)
dbSNP	rs35143646	Polymorphism	p.GLY424SER	N/A
Swiss-Prot	VAR_007310	Disease	p.GLY137VAL	Chondrodysplasia punctata 1, X-linked recessive (CDPX1)
Swiss-Prot	VAR_023570	Disease	p.ILE80ASN	Chondrodysplasia punctata 1, X-linked recessive (CDPX1)
dbSNP	rs61733256	Polymorphism	p.ILE53VAL	N/A
Swiss-Prot	VAR_023572	Disease	p.PRO578SER	Chondrodysplasia punctata 1, X-linked recessive (CDPX1)
Swiss-Prot	VAR_023571	Disease	p.THR481MET	Chondrodysplasia punctata 1, X-linked recessive (CDPX1)

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