Results for the protein: Q96NY8

Results for the Protein: Q96NY8

74761016

81607

PVRL4

NCBI, UniProt

PVRL4_HUMAN RecName: Full=Poliovirus receptor-related protein 4; AltName: Full=Ig superfamily receptor LNIR; AltName: Full=Nectin-4; Contains: RecName: Full=Processed poliovirus receptor-related protein 4; Flags: Precursor

Known Diseases associated with this Protein:
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (EDSS1)

4

2

3

2

1

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Swiss-Prot Protein: Q96NY8

Identical to: NP_112178

Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ig_Aggrecan_like	cd05878	0.0005	44	147
Ig1_MRC-OX-2_like	cd05846	9.2e-05	45	146
Ig1_PVR_like	cd05718	1.7e-19	46	146
Ig1_Nectin-1_like	cd05886	3.8e-05	46	146
Ig1_Nectin-3_like	cd05887	9.2e-09	46	146
Ig1_Nectin-4_like	cd05888	4.9e-75	46	146
Ig	cd00096	2.3e-05	48	142
Ig1_DNAM-1_like	cd05889	1.1e-05	49	148
IgC_Tapasin_R	cd05771	0.00032	110	237
Ig2_PVR_like	cd05719	1e-43	149	242
Ig2_Nectin-3-4_like	cd07704	3e-62	149	242
Ig2_Nectin-2_like	cd07703	6.1e-06	154	242
Ig2_Necl-1-4_like	cd05761	5.1e-05	166	242
Ig2_Necl-2	cd05883	0.00037	166	242
Ig2_FGFRL1-like	cd05856	0.00048	255	332
Ig2_FGFR_like	cd05729	0.00024	262	332
Ig4_NrCAM	cd05868	0.00056	262	333
Ig	cd00096	1.3e-07	266	330
Ig3_Robo	cd05725	0.001	266	332
Ig3_L1-CAM	cd05876	0.00027	266	331
ig	pfam00047	1.9e-06	263	317
IG	smart00409	2.4e-10	37	146
IG_like	smart00410	2.4e-10	37	146
V-set	pfam07686	2.2e-19	39	145
C2-set_2	pfam08205	1.9e-22	151	234
IG	smart00409	1.1e-06	257	333
IG_like	smart00410	1.1e-06	257	333
IGc2	smart00408	1.5e-05	261	322

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs3737786	Polymorphism	p.PHE53LEU	N/A
dbSNP	rs35434391	Polymorphism	p.PRO104THR	N/A
Swiss-Prot	VAR_064189	Disease	p.THR185MET	Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1)
OMIM	609607.0001	Disease	p.ARG284GLN	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
OMIM	609607.0004	Disease	p.PRO212ARG	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
OMIM	609607.0002	Disease	p.THR185MET	ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1

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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