Results for the protein: NP

Results for the Protein: NP_001026884

149999378

64423

INF2

NCBI

inverted formin-2 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5

10

3

10

3

0

Tips:

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Default View: Drf_GBD - pfam06371 Drf_FH3 - pfam06367 FH2 - pfam02181 FH2 - smart00498	RefSeq Protein: NP_001026884 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Drf_GBD	pfam06371	6.2e-05	1	152
Drf_FH3	pfam06367	3.5e-53	156	343
FH2	smart00498	5.2e-51	555	981

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs9672065	Polymorphism	p.GLY1160SER	N/A
dbSNP	rs34251364	Polymorphism	p.PRO1096SER	N/A
dbSNP	rs3803311	Polymorphism	p.THR1135MET	N/A
OMIM	610982.0002	Disease	p.ARG218GLN	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5
OMIM	610982.0004	Disease	p.ARG214HIS	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5
OMIM	610982.0003	Disease	p.ARG218TRP	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5
OMIM	610982.0006	Disease	p.CYS104ARG	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
OMIM	610982.0007	Disease	p.CYS104PHE	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
OMIM	610982.0008	Disease	p.CYS104TRP	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
OMIM	610982.0010	Disease	p.LEU132ARG	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
OMIM	610982.0009	Disease	p.LEU128PRO	CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
OMIM	610982.0005	Disease	p.LEU42PRO	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5
OMIM	610982.0001	Disease	p.SER186PRO	FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5

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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