Results for the protein: O95672

Results for the Protein: O95672

90110017

9427

ECEL1

NCBI, UniProt

ECEL1_HUMAN RecName: Full=Endothelin-converting enzyme-like 1; AltName: Full=Xce protein

Known Diseases associated with this Protein:
ARTHROGRYPOSIS, DISTAL, 5D (DA5D)
ARTHROGRYPOSIS, DISTAL, TYPE 5D

8

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Default View: PepO - COG3590 Peptidase_M13_N - pfam05649 Peptidase_M13 - pfam01431	Swiss-Prot Protein: O95672 Identical to: NP_004817 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Peptidase_M13	pfam01431	4.2e-78	571	774
Peptidase_M13_N	pfam05649	1.8e-133	123	513

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_069993	Disease	p.ARG404CYS	Arthrogryposis, distal, 5D (DA5D)
Swiss-Prot	VAR_069747	Disease	p.ARG418SER	Arthrogryposis, distal, 5D (DA5D)
Swiss-Prot	VAR_069995	Disease	p.CYS760ARG	Arthrogryposis, distal, 5D (DA5D)
Swiss-Prot	VAR_069994	Disease	p.GLY607SER	Arthrogryposis, distal, 5D (DA5D)
Swiss-Prot	VAR_012813	Polymorphism	p.HIS10GLN	N/A
dbSNP	rs1529874	Polymorphism	p.HIS328TYR	N/A
OMIM	605896.0005	Disease	p.ARG418CYS	ARTHROGRYPOSIS, DISTAL, TYPE 5D
OMIM	605896.0003	Disease	p.ARG418SER	ARTHROGRYPOSIS, DISTAL, TYPE 5D
OMIM	605896.0006	Disease	p.GLY197ASP	ARTHROGRYPOSIS, DISTAL, TYPE 5D
OMIM	605896.0001	Disease	p.TYR239TER	ARTHROGRYPOSIS, DISTAL, TYPE 5D

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