Results for the protein: P07359

Results for the Protein: P07359

121531

2811

GP1BA

NCBI, UniProt

GP1BA_HUMAN RecName: Full=Platelet glycoprotein Ib alpha chain; Short=GP-Ib alpha; Short=GPIb-alpha; Short=GPIbA; Short=Glycoprotein Ibalpha; AltName: Full=Antigen CD42b-alpha; AltName: CD_antigen=CD42b; Contains: RecName: Full=Glycocalicin; Flags: Precursor

Known Diseases associated with this Protein:
BERNARD-SOULIER SYNDROME (BSS)
PSEUDO-VON WILLEBRAND DISEASE (VWDP)

8

4

0

0

12

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Default View: LRRNT - pfam01462 LRRNT - smart00013 LRR - smart00370 LRR_TYP - smart00369 LRRCT - smart00082	Swiss-Prot Protein: P07359 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LRRNT	smart00013	3.7e-09	19	51
LRR_TYP	smart00369	6.2e-06	115	138
LRR	smart00370	6.2e-06	115	138
LRR_TYP	smart00369	6.9e-05	139	162
LRR	smart00370	6.9e-05	139	162
LRR_TYP	smart00369	0.00015	163	186
LRR	smart00370	0.00015	163	186
LRRCT	smart00082	4.2e-22	221	281

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_011910	Polymorphism	p.ALA254SER	N/A
Swiss-Prot	VAR_005258	Disease	p.ALA172VAL	Bernard-Soulier syndrome (BSS)
Swiss-Prot	VAR_011909	Polymorphism	p.ARG72HIS	N/A
Swiss-Prot	VAR_005256	Disease	p.CYS81ARG	Bernard-Soulier syndrome (BSS)
Swiss-Prot	VAR_005260	Disease	p.CYS225SER	Bernard-Soulier syndrome (BSS)
Swiss-Prot	VAR_019657	Disease	p.GLY249SER	Pseudo-von Willebrand disease (VWDP)
Swiss-Prot	VAR_005261	Disease	p.GLY249VAL	Pseudo-von Willebrand disease (VWDP)
Swiss-Prot	VAR_014206	Disease	p.LEU73PHE	Bernard-Soulier syndrome (BSS)
Swiss-Prot	VAR_013511	Polymorphism	p.LEU86PHE	N/A
Swiss-Prot	VAR_014207	Disease	p.LEU145PRO	Bernard-Soulier syndrome (BSS)
Swiss-Prot	VAR_005262	Disease	p.MET255VAL	Pseudo-von Willebrand disease (VWDP)
Swiss-Prot	VAR_005257	Polymorphism	p.THR161MET	N/A

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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