Results for the protein: Q9BXM0

Results for the Protein: Q9BXM0

317373270

57716

PRX

NCBI, UniProt

PRAX_HUMAN RecName: Full=Periaxin

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE 4F (CMT4F)
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, LATE-ONSET
  DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL RECESSIVE

7

10

6

3

8

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Default View: PDZ_signaling - cd00992 PDZ - smart00228 Cornifin - pfam02389	Swiss-Prot Protein: Q9BXM0 Identical to: NP_870998 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Cornifin	pfam02389	0.00097	488	687
PDZ	smart00228	3.4e-10	17	100

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_013056	Polymorphism	p.ALA406THR	N/A
Swiss-Prot	VAR_013065	Polymorphism	p.ARG1411CYS	N/A
Swiss-Prot	VAR_069093	Disease	p.ASP651ASN	Charcot-Marie-Tooth disease 4F (CMT4F)
Swiss-Prot	VAR_013057	Polymorphism	p.GLU495GLN	N/A
Swiss-Prot	VAR_013063	Polymorphism	p.GLU1259LYS	N/A
Swiss-Prot	VAR_013062	Polymorphism	p.GLY1132ARG	N/A
dbSNP	rs268673	Polymorphism	p.ILE921MET	N/A
Swiss-Prot	VAR_013060	Polymorphism	p.LYS935GLU	N/A
dbSNP	rs61735531	Polymorphism	p.MET673VAL	N/A
Swiss-Prot	VAR_013061	Polymorphism	p.PRO1083ARG	N/A
dbSNP	rs268671	Polymorphism	p.VAL882ALA	N/A
OMIM	605725.0008	Disease	p.ARG1070TER	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F
OMIM	605725.0005	Disease	p.ARG196TER	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F
OMIM	605725.0003	Disease	p.ARG368TER	DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL RECESSIVE
OMIM	605725.0001	Disease	p.ARG953TER	DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL RECESSIVE
OMIM	605725.0011	Disease	p.ASP651ASN	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, LATE-ONSET
OMIM	605725.0006	Disease	p.CYS715TER	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F

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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