Results for the protein: O94827

Results for the Protein: O94827

160014162

57449

PLEKHG5

NCBI, UniProt

PKHG5_HUMAN RecName: Full=Pleckstrin homology domain-containing family G member 5; Short=PH domain-containing family G member 5; AltName: Full=Guanine nucleotide exchange factor 720; Short=GEF720

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
  CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE, INTERMEDIATE TYPE, C (CMTRIC)
  DISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 4 (DSMA4)
  SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4

6

21

3

21

3

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Default View: RhoGEF - cd00160 RhoGEF - smart00325 RhoGEF - pfam00621 PH - pfam00169 PH - smart00233 PH - cd00821	Swiss-Prot Protein: O94827 Identical to: NP_001036128 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PH	cd00821	7.9e-08	643	738
RhoGEF	pfam00621	3.6e-47	397	583
PH	pfam00169	0.00013	641	740
RhoGEF	smart00325	4.7e-60	396	583
PH	smart00233	4.7e-08	641	740

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs74809741	Polymorphism	p.ALA470THR	N/A
dbSNP	rs72861528	Polymorphism	p.ALA396VAL	N/A
dbSNP	rs111400494	Polymorphism	p.ARG86CYS	N/A
dbSNP	rs148560273	Polymorphism	p.ARG917CYS	N/A
dbSNP	rs149682441	Polymorphism	p.ARG898GLN	N/A
dbSNP	rs61737997	Polymorphism	p.ARG915HIS	N/A
dbSNP	rs144245744	Polymorphism	p.ARG684LYS	N/A
dbSNP	rs140202670	Polymorphism	p.ARG388TRP	N/A
dbSNP	rs61730399	Polymorphism	p.ASP366ASN	N/A
dbSNP	rs3007419	Polymorphism	p.GLN921ARG	N/A
dbSNP	rs143484278	Polymorphism	p.GLY234ARG	N/A
Swiss-Prot	VAR_070218	Disease	p.GLY876ARG	Charcot-Marie-Tooth disease, recessive, intermediate type, C (CMTRIC)
dbSNP	rs114619322	Polymorphism	p.GLY999ARG	N/A
dbSNP	rs76625876	Polymorphism	p.GLY866SER	N/A
dbSNP	rs117505788	Polymorphism	p.ILE143THR	N/A
dbSNP	rs61740145	Polymorphism	p.MET496VAL	N/A
Swiss-Prot	VAR_035357	Disease	p.PHE703SER	Distal spinal muscular atrophy, autosomal recessive, 4 (DSMA4)
dbSNP	rs59117380	Polymorphism	p.PRO226LEU	N/A
dbSNP	rs77134982	Polymorphism	p.PRO631LEU	N/A
dbSNP	rs140687324	Polymorphism	p.PRO68THR	N/A
Swiss-Prot	VAR_070217	Disease	p.THR719MET	Charcot-Marie-Tooth disease, recessive, intermediate type, C (CMTRIC)
dbSNP	rs61741379	Polymorphism	p.THR294SER	N/A
dbSNP	rs141032388	Polymorphism	p.VAL159MET	N/A
dbSNP	rs112530241	Polymorphism	p.VAL78MET	N/A
OMIM	611101.0005	Disease	p.GLY797ARG	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
OMIM	611101.0001	Disease	p.PHE624SER	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4
OMIM	611101.0004	Disease	p.THR640MET	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B

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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