Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q05066
548983
SRY

SRY_HUMAN RecName: Full=Sex-determining region Y protein; AltName: Full=Testis-determining factor

Known Diseases associated with this Protein:
  46,XY SEX REVERSAL 1
  46,XY SEX REVERSAL 1 (SRXY1)
  46,XY TRUE HERMAPHRODITISM, INCLUDED
44
0
18
0
26
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

HMG - smart00398


Swiss-Prot Protein: Q05066
Identical to: NP_003131
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HMGsmart003982.3e-2659128

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_003731Diseasep.ALA113THR46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_003720Diseasep.ARG62GLY46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_017300Diseasep.ARG76SER46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_003734Diseasep.ARG133TRP46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_017301Diseasep.ASN87TYR46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_003726Diseasep.GLY95ARG46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_017302Diseasep.GLY95GLU46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_003724Diseasep.ILE90MET46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_003722Diseasep.ILE68THR46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_003727Diseasep.LEU101HIS46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_003728Diseasep.LYS106ILE46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_017298Diseasep.MET64ARG46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_003721Diseasep.MET64ILE46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_003723Diseasep.MET78THR46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_003730Diseasep.PHE109SER46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_017299Diseasep.PHE67VAL46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_003729Diseasep.PRO108ARG46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_017304Diseasep.PRO131ARG46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_003732Diseasep.PRO125LEU46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_003717Diseasep.SER18ASN46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_003725Diseasep.SER91GLY46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_030019Diseasep.SER3LEU46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_003733Diseasep.TYR127CYS46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_017303Diseasep.TYR127PHE46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_003718Diseasep.VAL60ALA46,XY sex reversal 1 (SRXY1)
Swiss-ProtVAR_003719Diseasep.VAL60LEU46,XY sex reversal 1 (SRXY1)
OMIM480000.0009 Diseasep.ALA113THR46,XY SEX REVERSAL 1
OMIM480000.0019 Diseasep.ARG133TRP46,XY SEX REVERSAL 1
OMIM480000.0020 Diseasep.GLN2TER46,XY SEX REVERSAL 1
OMIM480000.0005 Diseasep.GLN93TER46,XY SEX REVERSAL 1
OMIM480000.0016 Diseasep.GLY95ARG46,XY SEX REVERSAL 1
OMIM480000.0022 Diseasep.GLY95GLU46,XY SEX REVERSAL 1
OMIM480000.0006 Diseasep.ILE90MET46,XY SEX REVERSAL 1||46,XY TRUE HERMAPHRODITISM, INCLUDED
OMIM480000.0011 Diseasep.ILE68THR46,XY SEX REVERSAL 1
OMIM480000.0007 Diseasep.LYS106ILE46,XY SEX REVERSAL 1
OMIM480000.0015 Diseasep.LYS92TER46,XY SEX REVERSAL 1
OMIM480000.0012 Diseasep.MET64ILE46,XY SEX REVERSAL 1
OMIM480000.0003 Diseasep.PHE109SER46,XY SEX REVERSAL 1
OMIM480000.0021 Diseasep.SER18ASN46,XY SEX REVERSAL 1
OMIM480000.0010 Diseasep.TRP107TER46,XY SEX REVERSAL 1
OMIM480000.0013 Diseasep.TRP70TER46,XY SEX REVERSAL 1
OMIM480000.0023 Diseasep.TYR127PHE46,XY SEX REVERSAL 1
OMIM480000.0018 Diseasep.TYR4TER46,XY SEX REVERSAL 1
OMIM480000.0004 Diseasep.VAL60LEU46,XY SEX REVERSAL 1



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258