Results for the protein: Q13099

Results for the Protein: Q13099

206729873

8100

IFT88

NCBI, UniProt

IFT88_HUMAN RecName: Full=Intraflagellar transport protein 88 homolog; AltName: Full=Recessive polycystic kidney disease protein Tg737 homolog; AltName: Full=Tetratricopeptide repeat protein 10; Short=TPR repeat protein 10

			0 5 0 4 1

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Default View: NrfG - COG0457 TPR_1 - pfam00515 TPR - smart00028 TPR - cd00189 TPR_2 - pfam07719	Swiss-Prot Protein: Q13099 Identical to: NP_783195 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
TPR	cd00189	2.6e-14	243	346
NrfG	COG0457	2.2e-25	401	732
TPR	cd00189	3.5e-10	425	525
TPR	cd00189	3.7e-15	528	627
TPR	cd00189	2.2e-09	630	728
TPR_1	pfam00515	5.6e-05	242	275
TPR_1	pfam00515	1.9e-06	493	526
TPR_1	pfam00515	8.3e-06	527	560
TPR_1	pfam00515	3.5e-05	561	594
TPR	smart00028	4.2e-06	242	275
TPR_2	pfam07719	7.5e-05	493	526
TPR	smart00028	3.1e-06	493	526
TPR_2	pfam07719	4.2e-05	527	560
TPR	smart00028	4.1e-06	527	560
TPR	smart00028	8.6e-05	561	594

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs79942385	Polymorphism	p.CYS672SER	N/A
dbSNP	rs2442455	Polymorphism	p.MET383ILE	N/A
dbSNP	rs9509307	Polymorphism	p.SER455ASN	N/A
dbSNP	rs79793487	Polymorphism	p.SER214GLY	N/A
Swiss-Prot	VAR_046466	Polymorphism	p.SER671GLY	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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