Results for the protein: Q9BTC0

Results for the Protein: Q9BTC0

116241332

11083

DIDO1

NCBI, UniProt

DIDO1_HUMAN RecName: Full=Death-inducer obliterator 1; Short=DIO-1; Short=hDido1; AltName: Full=Death-associated transcription factor 1; Short=DATF-1

			0 9 0 5 4

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Default View: PHD - smart00249 PHD - pfam00628 TFIIS_M - pfam07500 TFS2M - smart00510 SPOC - pfam07744	Swiss-Prot Protein: Q9BTC0 Identical to: NP_001180298, NP_149072 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PHD	smart00249	4.9e-13	270	319
TFIIS_M	pfam07500	3.9e-35	666	784
TFS2M	smart00510	3.7e-46	672	773
SPOC	pfam07744	3.6e-34	1057	1163

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_057095	Polymorphism	p.ALA793GLY	N/A
dbSNP	rs1883847	Polymorphism	p.ALA556THR	N/A
dbSNP	rs1883848	Polymorphism	p.MET544THR	N/A
Swiss-Prot	VAR_057096	Polymorphism	p.PRO1220GLN	N/A
dbSNP	rs6011441	Polymorphism	p.PRO1220LEU	N/A
Swiss-Prot	VAR_028310	Polymorphism	p.PRO13LEU	N/A
Swiss-Prot	VAR_028311	Polymorphism	p.PRO276LEU	N/A
dbSNP	rs41282984	Polymorphism	p.SER1708CYS	N/A
dbSNP	rs57164938	Polymorphism	p.VAL1743GLY	N/A

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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