Results for the protein: Q9UK17

Results for the Protein: Q9UK17

92090984

3752

KCND3

NCBI, UniProt

KCND3_HUMAN RecName: Full=Potassium voltage-gated channel subfamily D member 3; AltName: Full=Voltage-gated potassium channel subunit Kv4.3

Known Diseases associated with this Protein:
SPINOCEREBELLAR ATAXIA 19
VARIANT OF UNKNOWN SIGNIFICANCE

3

4

3

0

4

Tips:

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Default View: Shal-type - pfam11601 BTB - smart00225 K_tetra - pfam02214 Ion_trans - pfam00520 Ion_trans_2 - pfam07885 DUF3399 - pfam11879	Swiss-Prot Protein: Q9UK17 Identical to: NP_004971 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ion_trans	pfam00520	2.6e-41	228	402
Shal-type	pfam11601	1.1e-13	3	28
BTB	smart00225	1.2e-20	38	132
Ion_trans_2	pfam07885	7.7e-13	327	403
DUF3399	pfam11879	1.1e-86	442	564

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_067696	Polymorphism	p.GLY600ARG	N/A
Swiss-Prot	VAR_067695	Polymorphism	p.SER530ARG	N/A
Swiss-Prot	VAR_067694	Polymorphism	p.VAL392ILE	N/A
Swiss-Prot	VAR_035775	Polymorphism	p.VAL94MET	N/A
OMIM	605411.0003	Disease	p.MET373ILE	VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	605411.0004	Disease	p.SER390ASN	VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	605411.0002	Disease	p.THR352PRO	SPINOCEREBELLAR ATAXIA 19

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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