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Results for the Protein: Q13635
160415977

PTC1_HUMAN RecName: Full=Protein patched homolog 1; Short=PTC; Short=PTC1

Known Diseases associated with this Protein:
  BASAL CELL NEVUS SYNDROME
  BASAL CELL NEVUS SYNDROME (BCNS)
  HOLOPROSENCEPHALY 7
  HOLOPROSENCEPHALY 7 (HPE7)
25
5
7
2
21
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Default View:

Patched - pfam02460
Sterol-sensing - pfam12349


Swiss-Prot Protein: Q13635
Identical to: NP_000255
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Sterol-sensingpfam123491e-62462616

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_032953Diseasep.ALA443GLYHoloprosencephaly 7 (HPE7)
Swiss-ProtVAR_032952Diseasep.ALA393THRHoloprosencephaly 7 (HPE7)
Swiss-ProtVAR_007847Diseasep.ARG1114TRPBasal cell nevus syndrome (BCNS)
Swiss-ProtVAR_010976Diseasep.ASP513TYRBasal cell nevus syndrome (BCNS)
Swiss-ProtVAR_010984Diseasep.GLU1438ASPBasal cell nevus syndrome (BCNS)
Swiss-ProtVAR_010982Polymorphismp.GLU1242LYSN/A
Swiss-ProtVAR_010979Diseasep.GLY1069ARGBasal cell nevus syndrome (BCNS)
Swiss-ProtVAR_010974Diseasep.GLY509ARGBasal cell nevus syndrome (BCNS)
Swiss-ProtVAR_010975Diseasep.GLY509VALBasal cell nevus syndrome (BCNS)
Swiss-ProtVAR_007843Diseasep.LEU175PROBasal cell nevus syndrome (BCNS)
Swiss-ProtVAR_007844Diseasep.PHE376SERBasal cell nevus syndrome (BCNS)
Swiss-ProtVAR_020847Polymorphismp.PRO1282LEUN/A
dbSNPrs357564 Polymorphismp.PRO1315LEUN/A
Swiss-ProtVAR_032956Diseasep.SER827GLYHoloprosencephaly 7 (HPE7)
Swiss-ProtVAR_010980Diseasep.SER1132PROBasal cell nevus syndrome (BCNS)
Swiss-ProtVAR_010981Diseasep.SER1132TYRBasal cell nevus syndrome (BCNS)
Swiss-ProtVAR_032958Diseasep.THR1052METHoloprosencephaly 7 (HPE7)
Swiss-ProtVAR_032954Diseasep.THR728METHoloprosencephaly 7 (HPE7)
Swiss-ProtVAR_020845Diseasep.THR230PROBasal cell nevus syndrome (BCNS)
dbSNPrs2236405 Polymorphismp.THR1195SERN/A
Swiss-ProtVAR_032955Diseasep.VAL751GLYHoloprosencephaly 7 (HPE7)
Swiss-ProtVAR_032957Diseasep.VAL908GLYHoloprosencephaly 7 (HPE7)
Swiss-ProtVAR_010978Polymorphismp.VAL829METN/A
OMIM601309.0011 Diseasep.ALA393THRHOLOPROSENCEPHALY 7
OMIM601309.0003 Diseasep.GLN210TERBASAL CELL NEVUS SYNDROME
OMIM601309.0013 Diseasep.SER827GLYHOLOPROSENCEPHALY 7
OMIM601309.0014 Diseasep.THR1052METHOLOPROSENCEPHALY 7
OMIM601309.0012 Diseasep.THR728METHOLOPROSENCEPHALY 7
OMIM601309.0017 Diseasep.TRP129TERBASAL CELL NEVUS SYNDROME
OMIM601309.0015 Diseasep.VAL908GLYHOLOPROSENCEPHALY 7



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