Results for the protein: Q8TF17

Results for the Protein: Q8TF17

46396469

79628

SH3TC2

NCBI, UniProt

S3TC2_HUMAN RecName: Full=SH3 domain and tetratricopeptide repeat-containing protein 2

Known Diseases associated with this Protein:
  CHARCOT-MARIE-TOOTH DISEASE 4C (CMT4C)
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
  MONONEUROPATHY OF THE MEDIAN NERVE MILD (MNMN)
  MONONEUROPATHY OF THE MEDIAN NERVE, MILD, INCLUDED

10

4

6

4

4

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: SH3_2 - pfam07653 TPR - smart00028	Swiss-Prot Protein: Q8TF17 Identical to: NP_078853 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
TPR	smart00028	0.001	1166	1199

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs6875902	Polymorphism	p.ALA468SER	N/A
Swiss-Prot	VAR_018270	Disease	p.ARG658CYS	Charcot-Marie-Tooth disease 4C (CMT4C)
Swiss-Prot	VAR_018268	Disease	p.ARG529GLN	Charcot-Marie-Tooth disease 4C (CMT4C)
dbSNP	rs73795753	Polymorphism	p.ASN897LYS	N/A
Swiss-Prot	VAR_018269	Disease	p.GLU657LYS	Charcot-Marie-Tooth disease 4C (CMT4C)
dbSNP	rs17722293	Polymorphism	p.GLY171GLU	N/A
dbSNP	rs17109261	Polymorphism	p.HIS696ARG	N/A
Swiss-Prot	VAR_064421	Disease	p.TYR169HIS	Mononeuropathy of the median nerve mild (MNMN)
OMIM	608206.0001	Disease	p.ARG529GLN	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
OMIM	608206.0006	Disease	p.ARG1109TER	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
OMIM	608206.0005	Disease	p.ARG954TER	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C\|\|MONONEUROPATHY OF THE MEDIAN NERVE, MILD, INCLUDED
OMIM	608206.0007	Disease	p.GLU657LYS	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
OMIM	608206.0008	Disease	p.TYR169HIS	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C\|\|MONONEUROPATHY OF THE MEDIAN NERVE, MILD, INCLUDED
OMIM	608206.0004	Disease	p.TYR943TER	CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258