Results for the protein: Q9UI46

Results for the Protein: Q9UI46

12643888

27019

DNAI1

NCBI, UniProt

DNAI1_HUMAN RecName: Full=Dynein intermediate chain 1, axonemal; AltName: Full=Axonemal dynein intermediate chain 1

Known Diseases associated with this Protein:
KARTAGENER SYNDROME (KTGS)

1

6

0

6

1

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: COG2319 - COG2319 WD40 - cd00200 WD40 - smart00320 WD40 - pfam00400	Swiss-Prot Protein: Q9UI46 Identical to: NP_036276 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
COG2319	COG2319	0.00022	173	692
WD40	pfam00400	1e-06	530	569
WD40	smart00320	1.5e-05	529	569

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs11547035	Polymorphism	p.ALA8SER	N/A
dbSNP	rs16931549	Polymorphism	p.ALA60VAL	N/A
dbSNP	rs16931555	Polymorphism	p.GLN326HIS	N/A
Swiss-Prot	VAR_016775	Disease	p.GLY515SER	Kartagener syndrome (KTGS)
dbSNP	rs76334696	Polymorphism	p.THR535ASN	N/A
dbSNP	rs11999454	Polymorphism	p.VAL487GLY	N/A
dbSNP	rs11793196	Polymorphism	p.VAL335ILE	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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258