Results for the protein: Q15672

Results for the Protein: Q15672

2498009

7291

TWIST1

NCBI, UniProt

TWST1_HUMAN RecName: Full=Twist-related protein 1; AltName: Full=Class A basic helix-loop-helix protein 38; Short=bHLHa38; AltName: Full=H-twist

Known Diseases associated with this Protein:
  CRANIOSYNOSTOSIS 1
  CRANIOSYNOSTOSIS 1 (CRS1)
  ROBINOW-SORAUF SYNDROME
  SAETHRE-CHOTZEN SYNDROME
  SAETHRE-CHOTZEN SYNDROME (SCS)
  SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES

17

5

12

3

7

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Default View: HLH - smart00353	Swiss-Prot Protein: Q15672 Identical to: NP_000465 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_034985	Disease	p.ALA186THR	Craniosynostosis 1 (CRS1)
Swiss-Prot	VAR_004495	Disease	p.GLN119PRO	Saethre-Chotzen syndrome (SCS)
Swiss-Prot	VAR_014822	Polymorphism	p.GLY84SER	N/A
Swiss-Prot	VAR_015219	Disease	p.ILE156VAL	Saethre-Chotzen syndrome (SCS)
dbSNP	rs76446751	Polymorphism	p.LEU168MET	N/A
Swiss-Prot	VAR_004496	Disease	p.LEU131PRO	Saethre-Chotzen syndrome (SCS)
dbSNP	rs200933313	Polymorphism	p.MET112LEU	N/A
Swiss-Prot	VAR_014821	Polymorphism	p.SER31GLY	N/A
Swiss-Prot	VAR_034986	Disease	p.SER188LEU	Craniosynostosis 1 (CRS1)
dbSNP	rs202071774	Polymorphism	p.VAL111ILE	N/A
OMIM	601622.0013	Disease	p.ALA186THR	CRANIOSYNOSTOSIS 1
OMIM	601622.0002	Disease	p.GLN119PRO	SAETHRE-CHOTZEN SYNDROME
OMIM	601622.0011	Disease	p.GLN28TER	SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES
OMIM	601622.0012	Disease	p.GLN71TER	ROBINOW-SORAUF SYNDROME
OMIM	601622.0005	Disease	p.GLU130TER	SAETHRE-CHOTZEN SYNDROME
OMIM	601622.0008	Disease	p.GLU181TER	SAETHRE-CHOTZEN SYNDROME
OMIM	601622.0010	Disease	p.ILE156VAL	SAETHRE-CHOTZEN SYNDROME
OMIM	601622.0006	Disease	p.LEU135PRO	SAETHRE-CHOTZEN SYNDROME
OMIM	601622.0014	Disease	p.SER188LEU	CRANIOSYNOSTOSIS 1
OMIM	601622.0004	Disease	p.SER127TER	SAETHRE-CHOTZEN SYNDROME
OMIM	601622.0001	Disease	p.TYR103TER	SAETHRE-CHOTZEN SYNDROME
OMIM	601622.0003	Disease	p.TYR107TER	SAETHRE-CHOTZEN SYNDROME

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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