Results for the protein: Q96RY7

Results for the Protein: Q96RY7

74761083

9742

IFT140

NCBI, UniProt

IF140_HUMAN RecName: Full=Intraflagellar transport protein 140 homolog; AltName: Full=WD and tetratricopeptide repeats protein 2

Known Diseases associated with this Protein:
MAINZER-SALDINO SYNDROME
MAINZER-SALDINO SYNDROME (MZSDS)

10

13

3

12

8

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Default View: WD40 - smart00320	Swiss-Prot Protein: Q96RY7 Identical to: NP_055529 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2235638	Polymorphism	p.ALA1070VAL	N/A
dbSNP	rs8060532	Polymorphism	p.ALA451VAL	N/A
dbSNP	rs35404373	Polymorphism	p.ARG280GLN	N/A
Swiss-Prot	VAR_068528	Disease	p.ARG576GLN	Mainzer-Saldino syndrome (MZSDS)
dbSNP	rs11648609	Polymorphism	p.ARG621GLN	N/A
dbSNP	rs4786350	Polymorphism	p.ARG279PRO	N/A
dbSNP	rs8058674	Polymorphism	p.ARG280TRP	N/A
dbSNP	rs35588860	Polymorphism	p.ASP165ALA	N/A
dbSNP	rs61742753	Polymorphism	p.ASP640ASN	N/A
Swiss-Prot	VAR_068529	Disease	p.GLU664LYS	Mainzer-Saldino syndrome (MZSDS)
Swiss-Prot	VAR_068523	Disease	p.GLY212ARG	Mainzer-Saldino syndrome (MZSDS)
Swiss-Prot	VAR_068527	Disease	p.GLY522GLU	Mainzer-Saldino syndrome (MZSDS)
Swiss-Prot	VAR_068524	Disease	p.ILE233MET	Mainzer-Saldino syndrome (MZSDS)
dbSNP	rs34535263	Polymorphism	p.LEU777ARG	N/A
dbSNP	rs34900355	Polymorphism	p.PRO670SER	N/A
dbSNP	rs8050974	Polymorphism	p.SER561ASN	N/A
Swiss-Prot	VAR_068526	Disease	p.TYR311CYS	Mainzer-Saldino syndrome (MZSDS)
Swiss-Prot	VAR_053399	Polymorphism	p.VAL398ILE	N/A
Swiss-Prot	VAR_068525	Disease	p.VAL292MET	Mainzer-Saldino syndrome (MZSDS)
dbSNP	rs34762152	Polymorphism	p.VAL398PHE	N/A
OMIM	614620.0001	Disease	p.GLU664LYS	MAINZER-SALDINO SYNDROME
OMIM	614620.0005	Disease	p.GLY212ARG	MAINZER-SALDINO SYNDROME
OMIM	614620.0003	Disease	p.TYR311CYS	MAINZER-SALDINO SYNDROME

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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