Results for the protein: O00534

Results for the Protein: O00534

62512155

4013

VWA5A

NCBI, UniProt

VMA5A_HUMAN RecName: Full=von Willebrand factor A domain-containing protein 5A; AltName: Full=Breast cancer suppressor candidate 1; Short=BCSC-1; AltName: Full=Loss of heterozygosity 11 chromosomal region 2 gene A protein

			0 7 0 1 6

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Default View: VIT - smart00609 VIT - pfam08487 vWA_interalpha_tryps - cd01461 VWA - smart00327 vWFA - cd00198 VWA - pfam00092	Swiss-Prot Protein: O00534 Identical to: NP_001123614, NP_055437 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
vWFA	cd00198	4.9e-10	280	443
VWA	pfam00092	0.00025	281	458
VIT	smart00609	1.5e-59	1	131
VIT	pfam08487	3.2e-21	13	132
VWA	smart00327	5.5e-09	279	467

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_014195	Polymorphism	p.ARG757CYS	N/A
Swiss-Prot	VAR_014194	Polymorphism	p.ARG506LYS	N/A
Swiss-Prot	VAR_059693	Polymorphism	p.GLU205LYS	N/A
Swiss-Prot	VAR_014196	Polymorphism	p.HIS759ARG	N/A
dbSNP	rs73607036	Polymorphism	p.ILE612VAL	N/A
Swiss-Prot	VAR_059692	Polymorphism	p.SER202GLY	N/A
Swiss-Prot	VAR_014193	Polymorphism	p.SER499ILE	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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