Results for the protein: Q05066

Results for the Protein: Q05066

548983

6736

SRY

NCBI, UniProt

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

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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 ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_003731	Disease	p.ALA113THR	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_003720	Disease	p.ARG62GLY	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_017300	Disease	p.ARG76SER	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_003734	Disease	p.ARG133TRP	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_017301	Disease	p.ASN87TYR	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_003726	Disease	p.GLY95ARG	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_017302	Disease	p.GLY95GLU	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_003724	Disease	p.ILE90MET	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_003722	Disease	p.ILE68THR	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_003727	Disease	p.LEU101HIS	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_003728	Disease	p.LYS106ILE	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_017298	Disease	p.MET64ARG	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_003721	Disease	p.MET64ILE	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_003723	Disease	p.MET78THR	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_003730	Disease	p.PHE109SER	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_017299	Disease	p.PHE67VAL	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_003729	Disease	p.PRO108ARG	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_017304	Disease	p.PRO131ARG	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_003732	Disease	p.PRO125LEU	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_003717	Disease	p.SER18ASN	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_003725	Disease	p.SER91GLY	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_030019	Disease	p.SER3LEU	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_003733	Disease	p.TYR127CYS	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_017303	Disease	p.TYR127PHE	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_003718	Disease	p.VAL60ALA	46,XY sex reversal 1 (SRXY1)
Swiss-Prot	VAR_003719	Disease	p.VAL60LEU	46,XY sex reversal 1 (SRXY1)
OMIM	480000.0009	Disease	p.ALA113THR	46,XY SEX REVERSAL 1
OMIM	480000.0019	Disease	p.ARG133TRP	46,XY SEX REVERSAL 1
OMIM	480000.0020	Disease	p.GLN2TER	46,XY SEX REVERSAL 1
OMIM	480000.0005	Disease	p.GLN93TER	46,XY SEX REVERSAL 1
OMIM	480000.0016	Disease	p.GLY95ARG	46,XY SEX REVERSAL 1
OMIM	480000.0022	Disease	p.GLY95GLU	46,XY SEX REVERSAL 1
OMIM	480000.0006	Disease	p.ILE90MET	46,XY SEX REVERSAL 1\|\|46,XY TRUE HERMAPHRODITISM, INCLUDED
OMIM	480000.0011	Disease	p.ILE68THR	46,XY SEX REVERSAL 1
OMIM	480000.0007	Disease	p.LYS106ILE	46,XY SEX REVERSAL 1
OMIM	480000.0015	Disease	p.LYS92TER	46,XY SEX REVERSAL 1
OMIM	480000.0012	Disease	p.MET64ILE	46,XY SEX REVERSAL 1
OMIM	480000.0003	Disease	p.PHE109SER	46,XY SEX REVERSAL 1
OMIM	480000.0021	Disease	p.SER18ASN	46,XY SEX REVERSAL 1
OMIM	480000.0010	Disease	p.TRP107TER	46,XY SEX REVERSAL 1
OMIM	480000.0013	Disease	p.TRP70TER	46,XY SEX REVERSAL 1
OMIM	480000.0023	Disease	p.TYR127PHE	46,XY SEX REVERSAL 1
OMIM	480000.0018	Disease	p.TYR4TER	46,XY SEX REVERSAL 1
OMIM	480000.0004	Disease	p.VAL60LEU	46,XY SEX REVERSAL 1

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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