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Results for the Protein: NP_001136241
218505787

protocadherin-15 isoform CD2-1 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL RECESSIVE 23
  USHER SYNDROME, TYPE IF
6
5
6
5
0
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Default View:

CA_like - cd00031
Cadherin - pfam00028
CA - smart00112




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CA_likecd000318.4e-33404619
CA_likecd000315.3e-59632823
CA_likecd000313.6e-458351040
CA_likecd000311.4e-3710521256
Cadherinpfam000285.4e-09157261
Cadherinpfam000280.00036405512
Cadherinpfam000287e-10526618
Cadherinpfam000281.4e-17633720
Cadherinpfam000286.3e-21735822
Cadherinpfam000282.4e-12836929
Cadherinpfam000282.7e-119431039
Cadherinpfam000281e-1110531147
Cadherinpfam000280.0001111611255
CAsmart001121.1e-12182268
CAsmart001122.3e-07312398
CAsmart001129.3e-08434519
CAsmart001125.6e-14546625
CAsmart001124.1e-20653727
CAsmart001121.3e-24754829
CAsmart001123.5e-15856936
CAsmart001123.4e-069631046
CAsmart001122.5e-1810701154
CAsmart001123.1e-0511811262

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2135720 Polymorphismp.ARG941GLNN/A
dbSNPrs4935502 Polymorphismp.ASP440ALAN/A
dbSNPrs11003863 Polymorphismp.GLU1618ALAN/A
dbSNPrs10825269 Polymorphismp.GLY385SERN/A
dbSNPrs11004439 Polymorphismp.SER19ALAN/A
OMIM605514.0007 Diseasep.ARG134GLYDEAFNESS, AUTOSOMAL RECESSIVE 23
OMIM605514.0004 Diseasep.ARG245TERUSHER SYNDROME, TYPE IF
OMIM605514.0002 Diseasep.ARG3TERUSHER SYNDROME, TYPE IF
OMIM605514.0006 Diseasep.GLY262ASPDEAFNESS, AUTOSOMAL RECESSIVE 23
OMIM605514.0009 Diseasep.SER654TERUSHER SYNDROME, TYPE IF
OMIM605514.0010 Diseasep.VAL535ASPDEAFNESS, AUTOSOMAL RECESSIVE 23



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