Results for the protein: P07339

Results for the Protein: P07339

115717

1509

CTSD

NCBI, UniProt

CATD_HUMAN RecName: Full=Cathepsin D; Contains: RecName: Full=Cathepsin D light chain; Contains: RecName: Full=Cathepsin D heavy chain; Flags: Precursor

Known Diseases associated with this Protein:
CEROID LIPOFUSCINOSIS, NEURONAL, 10
CEROID LIPOFUSCINOSIS, NEURONAL, 10 (CLN10)

4

2

2

1

3

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Swiss-Prot Protein: P07339

Identical to: NP_001900

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
pepsin_A	cd05478	7.5e-148	69	408
phytepsin	cd06098	5.5e-125	70	408
renin_like	cd05487	1.8e-153	71	409
Proteinase_A_fungi	cd05488	8.9e-128	71	408
Cathepsin_D2	cd05490	6.9e-286	73	408
gastricsin	cd05477	3.5e-107	76	409
Plasmepsin_5	cd06096	5.2e-10	76	412
SAP_like	cd05474	2.8e-17	77	409
cnd41_like	cd05472	0.00018	78	411
nucellin_like	cd05475	0.00047	78	411
pepsin_A_like_plant	cd05476	8.1e-11	78	411
pepsin_like	cd05471	2e-132	79	408
beta_secretase_like	cd05473	3.3e-15	79	412
Cathespin_E	cd05486	1.4e-145	79	408
Aspergillopepsin_lik	cd06097	2.4e-31	79	408
pepsin_retropepsin_l	cd05470	8.7e-45	81	201
Asp	pfam00026	1e-174	78	409
A1_Propeptide	pfam07966	8.1e-10	21	49

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs17571	Polymorphism	p.ALA58VAL	N/A
Swiss-Prot	VAR_058490	Polymorphism	p.GLY282ARG	N/A
Swiss-Prot	VAR_029362	Disease	p.PHE229ILE	Ceroid lipofuscinosis, neuronal, 10 (CLN10)
Swiss-Prot	VAR_029363	Disease	p.TRP383CYS	Ceroid lipofuscinosis, neuronal, 10 (CLN10)
OMIM	116840.0001	Disease	p.PHE229ILE	CEROID LIPOFUSCINOSIS, NEURONAL, 10
OMIM	116840.0002	Disease	p.TRP383CYS	CEROID LIPOFUSCINOSIS, NEURONAL, 10

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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