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Results for the Protein: Q96NY8
74761016

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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Default View:

IG_like - smart00410
IG - smart00409
V-set - pfam07686
Ig_Aggrecan_like - cd05878
Ig_CSPGs_LP - cd05714
Ig1_MRC-OX-2_like - cd05846
Ig1_Nectin-3_like - cd05887
Ig1_PVR_like - cd05718
Ig1_Nectin-1_like - cd05886
Ig1_Nectin-4_like - cd05888
Ig - cd00096
Ig1_DNAM-1_like - cd05889
IgC_Tapasin_R - cd05771
Ig2_PVR_like - cd05719
Ig2_Nectin-3-4_like - cd07704
C2-set_2 - pfam08205
Ig2_Nectin-2_like - cd07703
Ig2_Necl-2 - cd05883
Ig2_Necl-1-4_like - cd05761
Ig2_FGFRL1-like - cd05856
IGc2 - smart00408
Ig2_FGFR_like - cd05729
Ig4_NrCAM - cd05868
ig - pfam00047
Ig3_Robo - cd05725
Ig3_L1-CAM - cd05876


Swiss-Prot Protein: Q96NY8
Identical to: NP_112178
   Default View:















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ig_CSPGs_LPcd057140.0007144147
Ig_Aggrecan_likecd058780.000544147
Ig1_MRC-OX-2_likecd058469.2e-0545146
Ig1_PVR_likecd057181.7e-1946146
Ig1_Nectin-1_likecd058863.8e-0546146
Ig1_Nectin-3_likecd058879.2e-0946146
Ig1_Nectin-4_likecd058884.9e-7546146
Igcd000962.3e-0548142
Ig1_DNAM-1_likecd058891.1e-0549148
IgC_Tapasin_Rcd057710.00032110237
Ig2_PVR_likecd057191e-43149242
Ig2_Nectin-3-4_likecd077043e-62149242
Ig2_Nectin-2_likecd077036.1e-06154242
Ig2_Necl-1-4_likecd057615.1e-05166242
Ig2_Necl-2cd058830.00037166242
Ig2_FGFRL1-likecd058560.00048255332
Ig2_FGFR_likecd057290.00024262332
Ig4_NrCAMcd058680.00056262333
Igcd000961.3e-07266330
Ig3_Robocd057250.001266332
Ig3_L1-CAMcd058760.00027266331
igpfam000471.9e-06263317
IGsmart004092.4e-1037146
IG_likesmart004102.4e-1037146
V-setpfam076862.2e-1939145
C2-set_2pfam082051.9e-22151234
IGsmart004091.1e-06257333
IG_likesmart004101.1e-06257333
IGc2smart004081.5e-05261322

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs3737786 Polymorphismp.PHE53LEUN/A
dbSNPrs35434391 Polymorphismp.PRO104THRN/A
Swiss-ProtVAR_064189Diseasep.THR185METEctodermal dysplasia-syndactyly syndrome 1 (EDSS1)
OMIM609607.0001 Diseasep.ARG284GLNECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
OMIM609607.0004 Diseasep.PRO212ARGECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
OMIM609607.0002 Diseasep.THR185METECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1



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