Results for the protein: Q719H9

Results for the Protein: Q719H9

74738338

284252

KCTD1

NCBI, UniProt

KCTD1_HUMAN RecName: Full=BTB/POZ domain-containing protein KCTD1; AltName: Full=Potassium channel tetramerization domain-containing protein 1

Known Diseases associated with this Protein:
SCALP-EAR-NIPPLE SYNDROME (SENS)

8

1

0

0

9

Tips:

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Default View: BTB - smart00225 K_tetra - pfam02214	Swiss-Prot Protein: Q719H9 Identical to: NP_001129677, NP_945342 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
BTB	smart00225	2.9e-07	31	125

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_069971	Disease	p.ALA30GLU	Scalp-ear-nipple syndrome (SENS)
Swiss-Prot	VAR_069977	Disease	p.GLY62ASP	Scalp-ear-nipple syndrome (SENS)
Swiss-Prot	VAR_069976	Disease	p.HIS33GLN	Scalp-ear-nipple syndrome (SENS)
Swiss-Prot	VAR_069975	Disease	p.HIS33PRO	Scalp-ear-nipple syndrome (SENS)
Swiss-Prot	VAR_069978	Disease	p.HIS74PRO	Scalp-ear-nipple syndrome (SENS)
Swiss-Prot	VAR_049722	Polymorphism	p.LEU107TRP	N/A
Swiss-Prot	VAR_069973	Disease	p.PRO31ARG	Scalp-ear-nipple syndrome (SENS)
Swiss-Prot	VAR_069972	Disease	p.PRO31LEU	Scalp-ear-nipple syndrome (SENS)
Swiss-Prot	VAR_069974	Disease	p.PRO31SER	Scalp-ear-nipple syndrome (SENS)

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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