Results for the protein: Q9H2D6

Results for the Protein: Q9H2D6

90110075

11078

TRIOBP

NCBI, UniProt

TARA_HUMAN RecName: Full=TRIO and F-actin-binding protein; AltName: Full=Protein Tara; AltName: Full=Trio-associated repeat on actin

Known Diseases associated with this Protein:
DEAFNESS, AUTOSOMAL RECESSIVE 28
DEAFNESS, AUTOSOMAL RECESSIVE, 28 (DFNB28)

7

10

6

9

2

Tips:

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Default View: PH - pfam00169 PH - smart00233 PH - cd00821 PH_GRP1-like - cd01252 PH-like - cd00900 PH_Btk - cd01238 - cd01246 PH_AGAP - cd01250	Swiss-Prot Protein: Q9H2D6 Identical to: NP_001034230 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PH-like	cd00900	3.7e-05	1781	1885
PH_GRP1-like	cd01252	0.00068	1781	1900
PH_Btk	cd01238	0.00047	1801	1885
	cd01246	0.00076	1801	1885
PH_AGAP	cd01250	0.00064	1803	1885
PH	pfam00169	5.1e-18	1779	1887
PH	smart00233	5.4e-19	1779	1887

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs9610841	Polymorphism	p.ASN863LYS	N/A
dbSNP	rs75659869	Polymorphism	p.ASP436ASN	N/A
dbSNP	rs8140207	Polymorphism	p.GLU1372ASP	N/A
Swiss-Prot	VAR_025719	Disease	p.GLY1019ARG	Deafness, autosomal recessive, 28 (DFNB28)
dbSNP	rs739138	Polymorphism	p.HIS1300ARG	N/A
dbSNP	rs61729064	Polymorphism	p.LEU2050PHE	N/A
dbSNP	rs5756795	Polymorphism	p.PHE1187LEU	N/A
dbSNP	rs12628603	Polymorphism	p.SER217ASN	N/A
Swiss-Prot	VAR_059726	Polymorphism	p.SER493ASN	N/A
dbSNP	rs41302575	Polymorphism	p.THR817SER	N/A
dbSNP	rs8140958	Polymorphism	p.TRP1377ARG	N/A
OMIM	609761.0005	Disease	p.ARG1068TER	DEAFNESS, AUTOSOMAL RECESSIVE 28
OMIM	609761.0006	Disease	p.ARG1117TER	DEAFNESS, AUTOSOMAL RECESSIVE 28
OMIM	609761.0001	Disease	p.ARG347TER	DEAFNESS, AUTOSOMAL RECESSIVE 28
OMIM	609761.0004	Disease	p.ARG788TER	DEAFNESS, AUTOSOMAL RECESSIVE 28
OMIM	609761.0003	Disease	p.GLN297TER	DEAFNESS, AUTOSOMAL RECESSIVE 28
OMIM	609761.0002	Disease	p.GLN581TER	DEAFNESS, AUTOSOMAL RECESSIVE 28

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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