Results for the protein: P19823

Results for the Protein: P19823

229462889

3698

ITIH2

NCBI, UniProt

ITIH2_HUMAN RecName: Full=Inter-alpha-trypsin inhibitor heavy chain H2; Short=ITI heavy chain H2; Short=ITI-HC2; Short=Inter-alpha-inhibitor heavy chain 2; AltName: Full=Inter-alpha-trypsin inhibitor complex component II; AltName: Full=Serum-derived hyaluronan-associated protein; Short=SHAP; Flags: Precursor

			0 5 0 5 0

Tips:

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Default View: VIT - smart00609 VIT - pfam08487 vWA_interalpha_tryps - cd01461 vWA_VGCC_like - cd01463 VWA - smart00327 VWA_YIEM_type - cd01462 vWFA - cd00198 vWFA_subfamily_ECM - cd01450 vWA_subgroup - cd01465 vWA_BatA_type - cd01467 VWA - pfam00092 vWA_subfamily - cd01464 vWA_C3HC4_type - cd01466 ITI_HC_C - pfam06668	Swiss-Prot Protein: P19823 Identical to: NP_002207 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
vWA_VGCC_like	cd01463	1.5e-06	308	473
vWFA	cd00198	6.5e-29	309	477
vWFA_subfamily_ECM	cd01450	3.6e-07	309	477
VWA_YIEM_type	cd01462	0.00055	309	465
vWA_subgroup	cd01465	3.7e-09	309	490
vWA_BatA_type	cd01467	0.00029	310	485
vWA_subfamily	cd01464	0.00075	311	477
vWA_C3HC4_type	cd01466	2.4e-06	311	473
VWA	pfam00092	1.2e-28	310	493
VIT	smart00609	3.4e-80	56	185
VIT	pfam08487	5.7e-72	68	185
VWA	smart00327	4.3e-32	308	511
ITI_HC_C	pfam06668	2.8e-110	735	921

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs7075296	Polymorphism	p.ASN263SER	N/A
dbSNP	rs35524242	Polymorphism	p.ASN467SER	N/A
dbSNP	rs7084817	Polymorphism	p.LEU569VAL	N/A
dbSNP	rs3740217	Polymorphism	p.PRO674ALA	N/A
dbSNP	rs73621253	Polymorphism	p.SER60LEU	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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