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Results for the Protein: Q9BZ23
118572682

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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Fumble - pfam03630
PanK - COG5146


Swiss-Prot Protein: Q9BZ23
Identical to: NP_705902
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Fumblepfam036302e-222212567
PanKCOG51461.5e-37234570

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_060940Diseasep.ALA398THRNeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_060945Diseasep.ALA509VALNeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_015157Diseasep.ARG278CYSNeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_015159Diseasep.ARG286CYSNeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_060939Diseasep.ARG357GLNNeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_060936Diseasep.ARG278LEUNeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_060935Diseasep.ARG249PRONeurodegeneration with brain iron accumulation 1 (NBIA1)
dbSNPrs71647827 Polymorphismp.ARG94PRON/A
Swiss-ProtVAR_015156Diseasep.ARG264TRPNeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_060947Diseasep.ARG532TRPNeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_060946Diseasep.ASN511ASPNeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_015163Diseasep.ASN404ILENeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_015167Diseasep.ASN500ILENeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_015162Diseasep.ASN355SERNeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_060943Diseasep.ASP447ASNNeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_060942Diseasep.CYS428TYRNeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_060937Diseasep.GLU322ASPNeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_060934Diseasep.GLU134GLYNeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_060938Diseasep.GLU322GLYNeurodegeneration with brain iron accumulation 1 (NBIA1)
dbSNPrs3737084 Polymorphismp.GLY126ALAN/A
Swiss-ProtVAR_015168Diseasep.GLY521ARGNeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_015154Diseasep.GLY219VALNeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_015166Diseasep.ILE497THRNeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_060944Diseasep.ILE501THRNeurodegeneration with brain iron accumulation 1 (NBIA1)
dbSNPrs71647828 Polymorphismp.LEU111GLNN/A
Swiss-ProtVAR_015164Diseasep.LEU413PRONeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_060948Diseasep.LEU563PRONeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_015158Diseasep.LEU282VALNeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_060949Diseasep.PRO570LEUNeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_015165Diseasep.SER471ASNNeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_015161Diseasep.SER351PRONeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_015155Diseasep.THR234ALANeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_015160Diseasep.THR327ILENeurodegeneration with brain iron accumulation 1 (NBIA1)
Swiss-ProtVAR_015169Diseasep.THR528METNeurodegeneration with brain iron accumulation 1 (NBIA1)
OMIM606157.0009 Diseasep.ARG168CYSNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL
OMIM606157.0005 Diseasep.ARG176CYSNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
OMIM606157.0011 Diseasep.ARG371TERHARP SYNDROME
OMIM606157.0004 Diseasep.ARG154TRPNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
OMIM606157.0002 Diseasep.GLY411ARGNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1||NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL, INCLUDED
OMIM606157.0012 Diseasep.MET327THRHARP SYNDROME
OMIM606157.0006 Diseasep.SER361ASNNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
OMIM606157.0007 Diseasep.SER240PRONEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL
OMIM606157.0015 Diseasep.SER68TERNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
OMIM606157.0008 Diseasep.THR124ALANEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL
OMIM606157.0010 Diseasep.THR418METNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1||NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ATYPICAL, INCLUDED
OMIM606157.0003 Diseasep.TYR80TERNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1



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