Results for the protein: Q27J81

Results for the Protein: Q27J81

166215588

64423

INF2

NCBI, UniProt

INF2_HUMAN RecName: Full=Inverted formin-2; AltName: Full=HBEBP2-binding protein C

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
  CHARCOT-MARIE-TOOTH DISEASE, DOMINANT, INTERMEDIATE TYPE, E (CMTDIE)
  FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5
  FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 (FSGS5)

25

3

10

1

17

Tips:

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Default View: Drf_GBD - pfam06371 Drf_FH3 - pfam06367 FH2 - pfam02181 FH2 - smart00498	Swiss-Prot Protein: Q27J81 Identical to: NP_071934 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 ↕
Swiss-Prot	VAR_063075	Disease	p.ALA13THR	Focal segmental glomerulosclerosis 5 (FSGS5)
Swiss-Prot	VAR_063081	Disease	p.ARG218GLN	Focal segmental glomerulosclerosis 5 (FSGS5)
Swiss-Prot	VAR_063080	Disease	p.ARG214HIS	Focal segmental glomerulosclerosis 5 (FSGS5)
Swiss-Prot	VAR_063082	Disease	p.ARG218TRP	Focal segmental glomerulosclerosis 5 (FSGS5)
Swiss-Prot	VAR_067590	Disease	p.CYS104ARG	Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE)
Swiss-Prot	VAR_067589	Disease	p.CYS104PHE	Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE)
Swiss-Prot	VAR_067591	Disease	p.CYS104TRP	Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE)
Swiss-Prot	VAR_063077	Disease	p.GLU184LYS	Focal segmental glomerulosclerosis 5 (FSGS5)
Swiss-Prot	VAR_063083	Disease	p.GLU220LYS	Focal segmental glomerulosclerosis 5 (FSGS5)
dbSNP	rs9672065	Polymorphism	p.GLY1160SER	N/A
Swiss-Prot	VAR_067593	Disease	p.LEU132ARG	Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE)
Swiss-Prot	VAR_063079	Disease	p.LEU198ARG	Focal segmental glomerulosclerosis 5 (FSGS5)
Swiss-Prot	VAR_067592	Disease	p.LEU128PRO	Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE)
Swiss-Prot	VAR_068845	Disease	p.LEU245PRO	Focal segmental glomerulosclerosis 5 (FSGS5)
Swiss-Prot	VAR_063076	Disease	p.LEU42PRO	Focal segmental glomerulosclerosis 5 (FSGS5)
Swiss-Prot	VAR_037117	Polymorphism	p.PRO1096SER	N/A
Swiss-Prot	VAR_063078	Disease	p.SER186PRO	Focal segmental glomerulosclerosis 5 (FSGS5)
Swiss-Prot	VAR_037118	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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