Results for the protein: NP

Results for the Protein: NP_001159528

260593663

5184

PEPD

NCBI

xaa-Pro dipeptidase isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
PROLIDASE DEFICIENCY

7

4

7

4

0

Tips:

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Default View: AMP_N - pfam05195 PepP - COG0006 Peptidase_M24 - pfam00557 APP_MetAP - cd01066 APP - cd01085 Prolidase - cd01087 APP-like - cd01092	RefSeq Protein: NP_001159528 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
APP_MetAP	cd01066	5.2e-18	155	421
APP	cd01085	1.2e-06	157	426
Prolidase	cd01087	2.5e-128	160	426
APP-like	cd01092	4.1e-10	179	421
Peptidase_M24	pfam00557	6.1e-62	145	418
AMP_N	pfam05195	2.8e-47	18	157

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs76199755 rs2230062	Polymorphism	p.ARG347HIS	N/A
dbSNP	rs61748998	Polymorphism	p.GLU170VAL	N/A
dbSNP	rs17570	Polymorphism	p.LEU394PHE	N/A
dbSNP	rs61734506	Polymorphism	p.SER167ASN	N/A
OMIM	613230.0003	Disease	p.ARG184GLN	PROLIDASE DEFICIENCY
OMIM	613230.0008	Disease	p.ARG224TER	PROLIDASE DEFICIENCY
OMIM	613230.0001	Disease	p.ASP235ASN	PROLIDASE DEFICIENCY
OMIM	613230.0009	Disease	p.GLU371LYS	PROLIDASE DEFICIENCY
OMIM	613230.0005	Disease	p.GLY407ARG	PROLIDASE DEFICIENCY
OMIM	613230.0004	Disease	p.GLY237ASP	PROLIDASE DEFICIENCY
OMIM	613230.0011	Disease	p.SER1PHE	PROLIDASE DEFICIENCY

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