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Results for the Protein: NP_001077075
134254435

protein patched homolog 1 isoform S [Homo sapiens]

Known Diseases associated with this Protein:
  BASAL CELL NEVUS SYNDROME
  HOLOPROSENCEPHALY 7
6
2
6
2
0
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Default View:

Patched - pfam02460
Sterol-sensing - pfam12349




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Sterol-sensingpfam123491e-62311465

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs357564 Polymorphismp.PRO1164LEUN/A
dbSNPrs2236405 Polymorphismp.THR1044SERN/A
OMIM601309.0011 Diseasep.ALA242THRHOLOPROSENCEPHALY 7
OMIM601309.0003 Diseasep.GLN59TERBASAL CELL NEVUS SYNDROME
OMIM601309.0013 Diseasep.SER676GLYHOLOPROSENCEPHALY 7
OMIM601309.0012 Diseasep.THR577METHOLOPROSENCEPHALY 7
OMIM601309.0014 Diseasep.THR901METHOLOPROSENCEPHALY 7
OMIM601309.0015 Diseasep.VAL757GLYHOLOPROSENCEPHALY 7



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