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Results for the Protein: Q9NQ11
14285364

AT132_HUMAN RecName: Full=Probable cation-transporting ATPase 13A2

Known Diseases associated with this Protein:
  CEROID LIPOFUSCINOSIS, NEURONAL, 12 (1 FAMILY)
  CEROID LIPOFUSCINOSIS, NEURONAL, 12 (CLN12)
  KUFOR-RAKEB SYNDROME
  KUFOR-RAKEB SYNDROME (KRS)
8
10
3
0
15
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Default View:

P5-ATPase - pfam12409
ZntA - COG2217
MgtA - COG0474
KdpB - COG2216
E1-E2_ATPase - pfam00122


Swiss-Prot Protein: Q9NQ11
Identical to: NP_071372
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ZntACOG22173.6e-05131992
KdpBCOG22168.3e-052041017
E1-E2_ATPasepfam001221.2e-38262501
P5-ATPasepfam124091.9e-2929169

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_058458Polymorphismp.ALA746THRN/A
Swiss-ProtVAR_058453Polymorphismp.ARG294GLNN/A
Swiss-ProtVAR_058459Polymorphismp.ARG762TRPN/A
Swiss-ProtVAR_058455Diseasep.GLY504ARGKufor-Rakeb syndrome (KRS)
Swiss-ProtVAR_058456Polymorphismp.GLY533ARGN/A
Swiss-ProtVAR_066020Diseasep.GLY877ARGKufor-Rakeb syndrome (KRS)
Swiss-ProtVAR_058452Polymorphismp.GLY49SERN/A
Swiss-ProtVAR_058461Polymorphismp.ILE946PHEN/A
Swiss-ProtVAR_066021Diseasep.LEU1059ARGKufor-Rakeb syndrome (KRS)
Swiss-ProtVAR_070194Diseasep.MET854ARGCeroid lipofuscinosis, neuronal, 12 (CLN12)
Swiss-ProtVAR_066019Diseasep.PHE182LEUKufor-Rakeb syndrome (KRS)
Swiss-ProtVAR_058454Polymorphismp.PRO389LEUN/A
Swiss-ProtVAR_058451Polymorphismp.THR12METN/A
Swiss-ProtVAR_058457Polymorphismp.VAL578GLYN/A
Swiss-ProtVAR_058460Polymorphismp.VAL776ILEN/A
OMIM610513.0004 Diseasep.GLY504ARGKUFOR-RAKEB SYNDROME
OMIM610513.0008 Diseasep.GLY877ARGKUFOR-RAKEB SYNDROME
OMIM610513.0007 Diseasep.MET810ARGCEROID LIPOFUSCINOSIS, NEURONAL, 12 (1 family)



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