Results for the protein: Q14624

Results for the Protein: Q14624

229463048

3700

ITIH4

NCBI, UniProt

ITIH4_HUMAN RecName: Full=Inter-alpha-trypsin inhibitor heavy chain H4; Short=ITI heavy chain H4; Short=ITI-HC4; Short=Inter-alpha-inhibitor heavy chain 4; AltName: Full=Inter-alpha-trypsin inhibitor family heavy chain-related protein; Short=IHRP; AltName: Full=Plasma kallikrein sensitive glycoprotein 120; Short=Gp120; Short=PK-120; Contains: RecName: Full=70 kDa inter-alpha-trypsin inhibitor heavy chain H4; Contains: RecName: Full=35 kDa inter-alpha-trypsin inhibitor heavy chain H4; Flags: Precursor

			0 6 0 5 1

Tips:

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Default View: VIT - smart00609 VIT - pfam08487 vWA_VGCC_like - cd01463 vWA_interalpha_tryps - cd01461 VWA - smart00327 VWA_YIEM_type - cd01462 vWFA - cd00198 vWFA_subfamily_ECM - cd01450 vWA_subgroup - cd01465 vWA_BatA_type - cd01467 VWA - pfam00092 vWA_norD_type - cd01454 vWA_C3HC4_type - cd01466 ITI_HC_C - pfam06668	Swiss-Prot Protein: Q14624 Identical to: NP_002209 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
vWA_interalpha_tryps	cd01461	2.2e-103	271	452
vWFA	cd00198	3.4e-29	273	440
vWFA_subfamily_ECM	cd01450	5e-11	273	441
VWA_YIEM_type	cd01462	3.7e-05	273	429
vWA_subgroup	cd01465	5.3e-13	273	454
vWA_BatA_type	cd01467	0.00016	274	447
vWA_norD_type	cd01454	0.00018	275	433
vWA_C3HC4_type	cd01466	1.7e-11	275	441
VWA	pfam00092	2.3e-34	274	457
VIT	smart00609	2.7e-84	19	148
VIT	pfam08487	1.2e-77	31	148
VWA	smart00327	3.1e-34	272	456
ITI_HC_C	pfam06668	2.5e-76	764	930

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2276814	Polymorphism	p.GLN669LEU	N/A
dbSNP	rs13072536	Polymorphism	p.ILE85ASN	N/A
Swiss-Prot	VAR_013836	Polymorphism	p.ILE86ASN	N/A
dbSNP	rs73841137	Polymorphism	p.LEU791PRO	N/A
dbSNP	rs2256734	Polymorphism	p.MET714ILE	N/A
dbSNP	rs4687657	Polymorphism	p.PRO698THR	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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