Results for the protein: P29120

Results for the Protein: P29120

116242674

5122

PCSK1

NCBI, UniProt

NEC1_HUMAN RecName: Full=Neuroendocrine convertase 1; Short=NEC 1; AltName: Full=Prohormone convertase 1; AltName: Full=Proprotein convertase 1; Short=PC1; Flags: Precursor

Known Diseases associated with this Protein:
  OBESITY, SUSCEPTIBILITY TO
  PROPROTEIN CONVERTASE 1 DEFICIENCY (PC1 DEFICIENCY)
  PROPROTEIN CONVERTASE 1/3 DEFICIENCY

6

4

4

3

3

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Swiss-Prot Protein: P29120

Identical to: NP_000430

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Peptidases_S8_Thermi	cd07484	1.6e-07	120	408
Peptidases_S8_Protei	cd04059	2e-184	121	416
Peptidases_S8_Fervid	cd07485	3.8e-09	128	414
Peptidases_S8_5	cd07489	5e-05	147	443
Peptidases_S8_C5a_Pe	cd07475	2.5e-05	150	451
Peptidases_S8_11	cd04843	0.00014	152	416
Peptidases_S8_Kp43_p	cd04842	9.7e-07	153	416
Peptidases_S8_Autotr	cd04848	5.4e-10	157	416
Peptidases_S8_Subtil	cd07473	8.4e-10	158	416
Peptidases_S8_subtil	cd07474	3.8e-07	158	449
Peptidases_S8_Bacill	cd07481	1.6e-06	158	416
Peptidases_S8_1	cd07487	0.00058	158	416
Peptidases_S8_Subtil	cd07477	4.9e-07	160	414
Peptidases_S8_Lantib	cd07482	0.00011	160	414
Peptidases_S8_9	cd07493	0.00038	160	416
Peptidases_S8_13	cd07496	5.3e-08	160	414
Peptidases_S8_S53	cd00306	5.9e-29	161	414
Peptidases_S8_15	cd07498	2.1e-13	161	414
Peptidase_S8	pfam00082	2.9e-126	141	442
COG4935	COG4935	5.5e-07	475	664
P_proprotein	pfam01483	2.2e-44	504	591
Proho_convert	pfam12177	5.7e-29	712	752

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_013906	Polymorphism	p.ARG80GLN	N/A
dbSNP	rs6232	Polymorphism	p.ASN221ASP	N/A
dbSNP	rs6234	Polymorphism	p.GLN665GLU	N/A
Swiss-Prot	VAR_022778	Disease	p.GLY483ARG	Proprotein convertase 1 deficiency (PC1 deficiency)
Swiss-Prot	VAR_055002	Disease	p.SER307LEU	Proprotein convertase 1 deficiency (PC1 deficiency)
dbSNP	rs6235	Polymorphism	p.SER690THR	N/A
OMIM	162150.0005	Disease	p.ASN221ASP	OBESITY, SUSCEPTIBILITY TO
OMIM	162150.0003	Disease	p.GLU250TER	PROPROTEIN CONVERTASE 1/3 DEFICIENCY
OMIM	162150.0001	Disease	p.GLY483ARG	PROPROTEIN CONVERTASE 1/3 DEFICIENCY
OMIM	162150.0006	Disease	p.SER307LEU	PROPROTEIN CONVERTASE 1/3 DEFICIENCY

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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