Results for the protein: Q9Y458

Results for the Protein: Q9Y458

28381405

50945

TBX22

NCBI, UniProt

TBX22_HUMAN RecName: Full=T-box transcription factor TBX22; Short=T-box protein 22

Known Diseases associated with this Protein:
CLEFT PALATE WITH ANKYLOGLOSSIA
CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED (CPX)

11

5

5

0

11

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Default View: TBOX - cd00182 TBOX - smart00425	Swiss-Prot Protein: Q9Y458 Identical to: NP_058650, NP_001103348 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
TBOX	smart00425	6.9e-115	92	288

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_036067	Polymorphism	p.ALA51THR	N/A
Swiss-Prot	VAR_021830	Disease	p.ASN264TYR	Cleft palate with or without ankyloglossia, X-linked (CPX)
Swiss-Prot	VAR_036068	Polymorphism	p.ASP307ASN	N/A
Swiss-Prot	VAR_021833	Polymorphism	p.GLU187LYS	N/A
Swiss-Prot	VAR_015383	Disease	p.GLY118CYS	Cleft palate with or without ankyloglossia, X-linked (CPX)
Swiss-Prot	VAR_021829	Disease	p.LEU214PRO	Cleft palate with or without ankyloglossia, X-linked (CPX)
Swiss-Prot	VAR_021831	Disease	p.MET121VAL	Cleft palate with or without ankyloglossia, X-linked (CPX)
Swiss-Prot	VAR_069416	Polymorphism	p.PHE249TYR	N/A
Swiss-Prot	VAR_021832	Disease	p.PRO183LEU	Cleft palate with or without ankyloglossia, X-linked (CPX)
Swiss-Prot	VAR_015384	Disease	p.THR260MET	Cleft palate with or without ankyloglossia, X-linked (CPX)
Swiss-Prot	VAR_036066	Polymorphism	p.VAL16ALA	N/A
OMIM	300307.0009	Disease	p.ASN264TYR	CLEFT PALATE WITH ANKYLOGLOSSIA
OMIM	300307.0006	Disease	p.GLU56TER	CLEFT PALATE WITH ANKYLOGLOSSIA
OMIM	300307.0003	Disease	p.GLY118CYS	CLEFT PALATE WITH ANKYLOGLOSSIA
OMIM	300307.0007	Disease	p.LEU214PRO	CLEFT PALATE WITH ANKYLOGLOSSIA
OMIM	300307.0002	Disease	p.THR260MET	CLEFT PALATE WITH ANKYLOGLOSSIA

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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