Results for the protein: NP

Results for the Protein: NP_001036130

111154088

57449

PLEKHG5

NCBI

pleckstrin homology domain-containing family G member 5 isoform a [Homo sapiens]

Known Diseases associated with this Protein:
CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4

3

21

3

21

0

Tips:

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Default View: RhoGEF - cd00160 RhoGEF - smart00325 RhoGEF - pfam00621 PH - pfam00169 PH - smart00233 PH - cd00821	RefSeq Protein: NP_001036130 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PH	cd00821	7.9e-08	587	682
RhoGEF	pfam00621	3.6e-47	341	527
PH	pfam00169	0.00013	585	684
RhoGEF	smart00325	4.7e-60	340	527
PH	smart00233	4.7e-08	585	684

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs74809741	Polymorphism	p.ALA414THR	N/A
dbSNP	rs72861528	Polymorphism	p.ALA340VAL	N/A
dbSNP	rs111400494	Polymorphism	p.ARG30CYS	N/A
dbSNP	rs148560273	Polymorphism	p.ARG861CYS	N/A
dbSNP	rs149682441	Polymorphism	p.ARG842GLN	N/A
dbSNP	rs61737997	Polymorphism	p.ARG859HIS	N/A
dbSNP	rs144245744	Polymorphism	p.ARG628LYS	N/A
dbSNP	rs140202670	Polymorphism	p.ARG332TRP	N/A
dbSNP	rs61730399	Polymorphism	p.ASP310ASN	N/A
dbSNP	rs3007419	Polymorphism	p.GLN865ARG	N/A
dbSNP	rs143484278	Polymorphism	p.GLY178ARG	N/A
dbSNP	rs114619322	Polymorphism	p.GLY943ARG	N/A
dbSNP	rs76625876	Polymorphism	p.GLY810SER	N/A
dbSNP	rs117505788	Polymorphism	p.ILE87THR	N/A
dbSNP	rs61740145	Polymorphism	p.MET440VAL	N/A
dbSNP	rs59117380	Polymorphism	p.PRO170LEU	N/A
dbSNP	rs77134982	Polymorphism	p.PRO575LEU	N/A
dbSNP	rs140687324	Polymorphism	p.PRO12THR	N/A
dbSNP	rs61741379	Polymorphism	p.THR238SER	N/A
dbSNP	rs141032388	Polymorphism	p.VAL103MET	N/A
dbSNP	rs112530241	Polymorphism	p.VAL22MET	N/A
OMIM	611101.0005	Disease	p.GLY741ARG	CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B
OMIM	611101.0001	Disease	p.PHE568SER	SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4
OMIM	611101.0004	Disease	p.THR584MET	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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