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Results for the Protein: NP_001077071
134254466

protein patched homolog 1 isoform M [Homo sapiens]

Known Diseases associated with this Protein:
  BASAL CELL NEVUS SYNDROME
  HOLOPROSENCEPHALY 7
7
2
7
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-62396550

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs357564 Polymorphismp.PRO1249LEUN/A
dbSNPrs2236405 Polymorphismp.THR1129SERN/A
OMIM601309.0011 Diseasep.ALA327THRHOLOPROSENCEPHALY 7
OMIM601309.0003 Diseasep.GLN144TERBASAL CELL NEVUS SYNDROME
OMIM601309.0013 Diseasep.SER761GLYHOLOPROSENCEPHALY 7
OMIM601309.0012 Diseasep.THR662METHOLOPROSENCEPHALY 7
OMIM601309.0014 Diseasep.THR986METHOLOPROSENCEPHALY 7
OMIM601309.0017 Diseasep.TRP63TERBASAL CELL NEVUS SYNDROME
OMIM601309.0015 Diseasep.VAL842GLYHOLOPROSENCEPHALY 7



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