Results for the protein: P10915

Results for the Protein: P10915

130310

1404

HAPLN1

NCBI, UniProt

HPLN1_HUMAN RecName: Full=Hyaluronan and proteoglycan link protein 1; AltName: Full=Cartilage-linking protein 1; Short=Cartilage-link protein; AltName: Full=Proteoglycan link protein; Flags: Precursor

			0 2 0 1 1

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Default View: IG_like - smart00410 IG - smart00409 V-set - pfam07686 IGv - smart00406 LINK - smart00445	Swiss-Prot Protein: P10915 Identical to: NP_001875 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
IG_like	smart00410	0.0006	46	157
V-set	pfam07686	6.3e-05	48	154
IGv	smart00406	2.4e-13	56	141
LINK	smart00445	9.6e-62	157	254
LINK	smart00445	1.1e-52	258	351

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_036168	Polymorphism	p.ARG333HIS	N/A
dbSNP	rs6864342	Polymorphism	p.ASN281SER	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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