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Results for the Protein: Q96QU1
116242702

PCD15_HUMAN RecName: Full=Protocadherin-15; Flags: Precursor

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL RECESSIVE 23
  DEAFNESS, AUTOSOMAL RECESSIVE, 23 (DFNB23)
  USHER SYNDROME 1D/F (USH1DF)
  USHER SYNDROME 1F (USH1F)
  USHER SYNDROME, TYPE IF
10
5
6
5
4
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Default View:

CA_like - cd00031
Cadherin - pfam00028
CA - smart00112


Swiss-Prot Protein: Q96QU1
Identical to: NP_149045
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CA_likecd000318.6e-36399607
CA_likecd000315.3e-59620811
CA_likecd000313.6e-458231028
CA_likecd000311.4e-3710401244
Cadherinpfam000285.4e-09152256
Cadherinpfam000286.7e-05400500
Cadherinpfam000287e-10514606
Cadherinpfam000281.4e-17621708
Cadherinpfam000286.3e-21723810
Cadherinpfam000282.4e-12824917
Cadherinpfam000282.7e-119311027
Cadherinpfam000281e-1110411135
Cadherinpfam000280.0001111491243
CAsmart001121.1e-12177263
CAsmart001122.3e-07307393
CAsmart001122.4e-09429507
CAsmart001125.6e-14534613
CAsmart001124.1e-20641715
CAsmart001121.3e-24742817
CAsmart001123.5e-15844924
CAsmart001123.4e-069511034
CAsmart001122.5e-1810581142
CAsmart001123.1e-0511691250

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2135720 Polymorphismp.ARG929GLNN/A
Swiss-ProtVAR_024035Diseasep.ARG134GLYDeafness, autosomal recessive, 23 (DFNB23)
dbSNPrs4935502 Polymorphismp.ASP435ALAN/A
Swiss-ProtVAR_069297Diseasep.ASP178GLYUsher syndrome 1D/F (USH1DF)
Swiss-ProtVAR_024037Diseasep.GLN1342LYSUsher syndrome 1F (USH1F)
Swiss-ProtVAR_024036Diseasep.GLY262ASPDeafness, autosomal recessive, 23 (DFNB23)
dbSNPrs10825269 Polymorphismp.GLY380SERN/A
dbSNPrs79854148 Polymorphismp.ILE1903VALN/A
dbSNPrs11004439 Polymorphismp.SER19ALAN/A
OMIM605514.0007 Diseasep.ARG129GLYDEAFNESS, AUTOSOMAL RECESSIVE 23
OMIM605514.0004 Diseasep.ARG240TERUSHER SYNDROME, TYPE IF
OMIM605514.0002 Diseasep.ARG3TERUSHER SYNDROME, TYPE IF
OMIM605514.0006 Diseasep.GLY257ASPDEAFNESS, AUTOSOMAL RECESSIVE 23
OMIM605514.0009 Diseasep.SER642TERUSHER SYNDROME, TYPE IF
OMIM605514.0010 Diseasep.VAL523ASPDEAFNESS, AUTOSOMAL RECESSIVE 23



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