Results for the protein: Q9NQ38

Results for the Protein: Q9NQ38

212276440

11005

SPINK5

NCBI, UniProt

ISK5_HUMAN RecName: Full=Serine protease inhibitor Kazal-type 5; AltName: Full=Lympho-epithelial Kazal-type-related inhibitor; Short=LEKTI; Contains: RecName: Full=Hemofiltrate peptide HF6478; Contains: RecName: Full=Hemofiltrate peptide HF7665; Flags: Precursor

Known Diseases associated with this Protein:
  ASTHMA, SUSCEPTIBILITY TO, INCLUDED
  ATOPY, SUSCEPTIBILITY TO
  DERMATITIS, ATOPIC, 6, SUSCEPTIBILITY TO, INCLUDED;;
  NETHERTON SYNDROME

2

14

2

13

1

Tips:

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Default View: KAZAL - smart00280 Kazal_1 - pfam00050 KAZAL_PSTI - cd01327 Kazal_2 - pfam07648 KAZAL_FS - cd00104	Swiss-Prot Protein: Q9NQ38 Identical to: NP_006837 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
KAZAL_FS	cd00104	1.1e-15	111	151
KAZAL_PSTI	cd01327	0.0005	784	828
KAZAL_PSTI	cd01327	3.9e-24	1002	1046
KAZAL_FS	cd00104	4.9e-14	1006	1046
Kazal_1	pfam00050	6.2e-16	97	151
Kazal_1	pfam00050	5e-12	993	1046
KAZAL	smart00280	6.5e-21	96	151
Kazal_2	pfam07648	7e-15	111	151
KAZAL	smart00280	4.2e-05	160	214
Kazal_2	pfam07648	8.7e-11	175	214
KAZAL	smart00280	7.4e-13	224	279
Kazal_2	pfam07648	5.3e-12	239	283
KAZAL	smart00280	3.4e-07	296	351
Kazal_2	pfam07648	3.3e-12	311	351
KAZAL	smart00280	2.5e-05	366	421
Kazal_2	pfam07648	1.1e-11	381	421
KAZAL	smart00280	0.00068	436	491
Kazal_2	pfam07648	2.4e-10	451	491
KAZAL	smart00280	3.3e-08	495	556
Kazal_2	pfam07648	1.6e-12	510	551
Kazal_2	pfam07648	2.4e-09	581	632
KAZAL	smart00280	3.7e-10	631	686
Kazal_2	pfam07648	4.9e-14	646	691
KAZAL	smart00280	4e-12	706	760
Kazal_2	pfam07648	2.8e-11	721	761
KAZAL	smart00280	5.1e-17	773	828
Kazal_2	pfam07648	1.6e-12	788	833
KAZAL	smart00280	0.00012	848	903
Kazal_2	pfam07648	8.3e-11	863	905
Kazal_2	pfam07648	5.9e-12	930	971
KAZAL	smart00280	2e-11	992	1046
Kazal_2	pfam07648	3e-12	1006	1046

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs34482796	Polymorphism	p.ALA335VAL	N/A
dbSNP	rs3777134	Polymorphism	p.ARG711GLN	N/A
dbSNP	rs34393923	Polymorphism	p.ARG441HIS	N/A
dbSNP	rs17860502	Polymorphism	p.ASP106ASN	N/A
dbSNP	rs2303064	Polymorphism	p.ASP386ASN	N/A
dbSNP	rs6892205	Polymorphism	p.GLN267ARG	N/A
dbSNP	rs2303070	Polymorphism	p.GLU825ASP	N/A
dbSNP	rs17705005	Polymorphism	p.HIS972ARG	N/A
Swiss-Prot	VAR_047120	Polymorphism	p.ILE588MET	N/A
dbSNP	rs2303067	Polymorphism	p.LYS420GLU	N/A
dbSNP	rs3188691	Polymorphism	p.LYS969GLU	N/A
dbSNP	rs28408445	Polymorphism	p.SER887ARG	N/A
dbSNP	rs2303063	Polymorphism	p.SER368ASN	N/A
dbSNP	rs17775319	Polymorphism	p.VAL395MET	N/A
OMIM	605010.0001	Disease	p.ARG790TER	NETHERTON SYNDROME
OMIM	605010.0004	Disease	p.GLU420LYS	ATOPY, SUSCEPTIBILITY TO\|\|DERMATITIS, ATOPIC, 6, SUSCEPTIBILITY TO, INCLUDED;;\|\|ASTHMA, SUSCEPTIBILITY TO, INCLUDED

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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