Results for the protein: NP

Results for the Protein: NP_001805

189083844

1075

CTSC

NCBI

dipeptidyl peptidase 1 isoform a preproprotein [Homo sapiens]

Known Diseases associated with this Protein:
  HAIM-MUNK SYNDROME
  PAPILLON-LEFEVRE SYNDROME
  PERIODONTITIS, AGGRESSIVE, 1

11

2

11

2

0

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: CathepsinC_exc - pfam08773 COG4870 - COG4870 Peptidase_C1A_Cathep - cd02621 Pept_C1 - smart00645 Peptidase_C1 - pfam00112 Peptidase_C1A_Cathep - cd02698 Peptidase_C1A_Cathep - cd02620 Peptidase_C1A - cd02248 Peptidase_C1 - cd02619	RefSeq Protein: NP_001805 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Peptidase_C1A_Cathep	cd02698	1.2e-40	231	460
Peptidase_C1A	cd02248	2e-89	232	457
Peptidase_C1A_Cathep	cd02620	1.7e-56	232	457
Peptidase_C1	cd02619	2.1e-56	234	456
COG4870	COG4870	0.00036	122	459
Peptidase_C1	pfam00112	8e-80	231	458
CathepsinC_exc	pfam08773	2e-86	25	142
Pept_C1	smart00645	7.8e-87	231	458

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs217086	Polymorphism	p.ILE153THR	N/A
dbSNP	rs3888798	Polymorphism	p.ILE453VAL	N/A
OMIM	602365.0001	Disease	p.ARG210TER	PAPILLON-LEFEVRE SYNDROME
OMIM	602365.0006	Disease	p.GLN286ARG	HAIM-MUNK SYNDROME
OMIM	602365.0003	Disease	p.GLN252LEU	PAPILLON-LEFEVRE SYNDROME
OMIM	602365.0007	Disease	p.GLN286TER	PAPILLON-LEFEVRE SYNDROME
OMIM	602365.0004	Disease	p.GLU286TER	PAPILLON-LEFEVRE SYNDROME
OMIM	602365.0009	Disease	p.GLY301SER	PAPILLON-LEFEVRE SYNDROME
OMIM	602365.0011	Disease	p.HIS127PRO	PAPILLON-LEFEVRE SYNDROME
OMIM	602365.0010	Disease	p.TRP429CYS	PAPILLON-LEFEVRE SYNDROME
OMIM	602365.0008	Disease	p.TRP39SER	PAPILLON-LEFEVRE SYNDROME
OMIM	602365.0013	Disease	p.TYR347CYS	PERIODONTITIS, AGGRESSIVE, 1
OMIM	602365.0012	Disease	p.TYR412CYS	PERIODONTITIS, AGGRESSIVE, 1

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