Results for the protein: Q99732

Results for the Protein: Q99732

83304387

9516

LITAF

NCBI, UniProt

LITAF_HUMAN RecName: Full=Lipopolysaccharide-induced tumor necrosis factor-alpha factor; Short=LPS-induced TNF-alpha factor; AltName: Full=Small integral membrane protein of lysosome/late endosome; AltName: Full=p53-induced gene 7 protein

Known Diseases associated with this Protein:
CHARCOT-MARIE-TOOTH DISEASE 1C (CMT1C)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C

10

2

5

1

6

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Default View: zf-LITAF-like - pfam10601 LITAF - smart00714	Swiss-Prot Protein: Q99732 Identical to: NP_001129944, NP_004853 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
LITAF	smart00714	6.6e-33	91	160

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_024017	Disease	p.GLY112SER	Charcot-Marie-Tooth disease 1C (CMT1C)
dbSNP	rs4280262	Polymorphism	p.ILE92VAL	N/A
Swiss-Prot	VAR_024020	Disease	p.LEU122VAL	Charcot-Marie-Tooth disease 1C (CMT1C)
Swiss-Prot	VAR_024018	Disease	p.THR115ASN	Charcot-Marie-Tooth disease 1C (CMT1C)
Swiss-Prot	VAR_024015	Disease	p.THR49MET	Charcot-Marie-Tooth disease 1C (CMT1C)
Swiss-Prot	VAR_024019	Disease	p.TRP116GLY	Charcot-Marie-Tooth disease 1C (CMT1C)
Swiss-Prot	VAR_024014	Polymorphism	p.TYR23HIS	N/A
OMIM	603795.0001	Disease	p.GLY112SER	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C
OMIM	603795.0004	Disease	p.LEU122VAL	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C
OMIM	603795.0002	Disease	p.THR115ASN	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C
OMIM	603795.0003	Disease	p.TRP116GLY	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C
OMIM	603795.0005	Disease	p.VAL144MET	CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C

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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