Results for the protein: NP

Results for the Protein: NP_000883

78191798

3818

KLKB1

NCBI

plasma kallikrein preproprotein [Homo sapiens]

Known Diseases associated with this Protein:
PREKALLIKREIN DEFICIENCY

5

8

5

8

0

Tips:

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Default View: APPLE - smart00223 Tryp_SPc - smart00020	RefSeq Protein: NP_000883 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
APPLE	smart00223	4.4e-48	111	194
APPLE	smart00223	7.8e-46	201	284
APPLE	smart00223	7.5e-39	292	375
Tryp_SPc	smart00020	2.7e-108	390	621

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2278542	Polymorphism	p.ALA210GLU	N/A
dbSNP	rs4253325	Polymorphism	p.ARG560GLN	N/A
dbSNP	rs4253373	Polymorphism	p.HIS202GLN	N/A
dbSNP	rs4253377	Polymorphism	p.PHE311VAL	N/A
dbSNP	rs4253301	Polymorphism	p.SER381ALA	N/A
dbSNP	rs3733402	Polymorphism	p.SER143ASN	N/A
dbSNP	rs4253376	Polymorphism	p.SER269CYS	N/A
dbSNP	rs4253379	Polymorphism	p.THR358ALA	N/A
OMIM	229000.0001	Disease	p.ARG94TER	PREKALLIKREIN DEFICIENCY
OMIM	229000.0005	Disease	p.ASN124SER	PREKALLIKREIN DEFICIENCY
OMIM	229000.0003	Disease	p.CYS529TYR	PREKALLIKREIN DEFICIENCY
OMIM	229000.0004	Disease	p.GLY104ARG	PREKALLIKREIN DEFICIENCY
OMIM	229000.0002	Disease	p.TRP383TER	PREKALLIKREIN DEFICIENCY

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