Results for the protein: Q96PZ2

Results for the Protein: Q96PZ2

125991848

63901

FAM111A

NCBI, UniProt

F111A_HUMAN RecName: Full=Protein FAM111A

Known Diseases associated with this Protein:
  GRACILE BONE DYSPLASIA
  GRACILE BONE DYSPLASIA (GCLEB)
  KENNY-CAFFEY SYNDROME 2 (KCS2)
  KENNY-CAFFEY SYNDROME, TYPE 2

10

3

5

3

5

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Default View:	Swiss-Prot Protein: Q96PZ2 Identical to: NP_071357, NP_942144, NP_001135991, NP_001135992, NP_001135993 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 ↕
Swiss-Prot	VAR_069518	Disease	p.ARG569HIS	Kenny-Caffey syndrome 2 (KCS2)
Swiss-Prot	VAR_069517	Disease	p.ASP528GLY	Gracile bone dysplasia (GCLEB)
dbSNP	rs116918730	Polymorphism	p.GLN451GLU	N/A
dbSNP	rs73491319	Polymorphism	p.ILE403VAL	N/A
dbSNP	rs74658848	Polymorphism	p.LEU104ILE	N/A
Swiss-Prot	VAR_069516	Disease	p.PRO527THR	Gracile bone dysplasia (GCLEB)
Swiss-Prot	VAR_069513	Disease	p.THR338ALA	Gracile bone dysplasia (GCLEB)
Swiss-Prot	VAR_069515	Disease	p.TYR511HIS	Kenny-Caffey syndrome 2 (KCS2)
OMIM	615292.0001	Disease	p.ARG569HIS	KENNY-CAFFEY SYNDROME, TYPE 2
OMIM	615292.0004	Disease	p.ASP528GLY	GRACILE BONE DYSPLASIA
OMIM	615292.0006	Disease	p.PRO527THR	GRACILE BONE DYSPLASIA
OMIM	615292.0005	Disease	p.THR338ALA	GRACILE BONE DYSPLASIA
OMIM	615292.0003	Disease	p.TYR511HIS	KENNY-CAFFEY SYNDROME, TYPE 2

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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