Results for the protein: Q9BZ23

Results for the Protein: Q9BZ23

118572682

80025

PANK2

NCBI, UniProt

PANK2_HUMAN RecName: Full=Pantothenate kinase 2, mitochondrial; Short=hPanK2; AltName: Full=Pantothenic acid kinase 2; Flags: Precursor

Known Diseases associated with this Protein:
  HARP SYNDROME
  NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
  NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (NBIA1)
  NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL
  NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL, INCLUDED

43

3

12

3

31

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Default View: Fumble - pfam03630 PanK - COG5146	Swiss-Prot Protein: Q9BZ23 Identical to: NP_705902 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PanK	COG5146	1.5e-37	234	570

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_060940	Disease	p.ALA398THR	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_060945	Disease	p.ALA509VAL	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_015157	Disease	p.ARG278CYS	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_015159	Disease	p.ARG286CYS	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_060939	Disease	p.ARG357GLN	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_060936	Disease	p.ARG278LEU	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_060935	Disease	p.ARG249PRO	Neurodegeneration with brain iron accumulation 1 (NBIA1)
dbSNP	rs71647827	Polymorphism	p.ARG94PRO	N/A
Swiss-Prot	VAR_015156	Disease	p.ARG264TRP	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_060947	Disease	p.ARG532TRP	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_060946	Disease	p.ASN511ASP	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_015163	Disease	p.ASN404ILE	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_015167	Disease	p.ASN500ILE	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_015162	Disease	p.ASN355SER	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_060943	Disease	p.ASP447ASN	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_060942	Disease	p.CYS428TYR	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_060937	Disease	p.GLU322ASP	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_060934	Disease	p.GLU134GLY	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_060938	Disease	p.GLU322GLY	Neurodegeneration with brain iron accumulation 1 (NBIA1)
dbSNP	rs3737084	Polymorphism	p.GLY126ALA	N/A
Swiss-Prot	VAR_015168	Disease	p.GLY521ARG	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_015154	Disease	p.GLY219VAL	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_015166	Disease	p.ILE497THR	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_060944	Disease	p.ILE501THR	Neurodegeneration with brain iron accumulation 1 (NBIA1)
dbSNP	rs71647828	Polymorphism	p.LEU111GLN	N/A
Swiss-Prot	VAR_015164	Disease	p.LEU413PRO	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_060948	Disease	p.LEU563PRO	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_015158	Disease	p.LEU282VAL	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_060949	Disease	p.PRO570LEU	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_015165	Disease	p.SER471ASN	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_015161	Disease	p.SER351PRO	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_015155	Disease	p.THR234ALA	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_015160	Disease	p.THR327ILE	Neurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-Prot	VAR_015169	Disease	p.THR528MET	Neurodegeneration with brain iron accumulation 1 (NBIA1)
OMIM	606157.0009	Disease	p.ARG168CYS	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL
OMIM	606157.0005	Disease	p.ARG176CYS	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
OMIM	606157.0011	Disease	p.ARG371TER	HARP SYNDROME
OMIM	606157.0004	Disease	p.ARG154TRP	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
OMIM	606157.0002	Disease	p.GLY411ARG	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1\|\|NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL, INCLUDED
OMIM	606157.0012	Disease	p.MET327THR	HARP SYNDROME
OMIM	606157.0006	Disease	p.SER361ASN	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
OMIM	606157.0007	Disease	p.SER240PRO	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL
OMIM	606157.0015	Disease	p.SER68TER	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
OMIM	606157.0008	Disease	p.THR124ALA	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL
OMIM	606157.0010	Disease	p.THR418MET	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1\|\|NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL, INCLUDED
OMIM	606157.0003	Disease	p.TYR80TER	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1

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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