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Results for the Protein: Q15049
20141590

MLC1_HUMAN RecName: Full=Membrane protein MLC1

Known Diseases associated with this Protein:
  LEUKOENCEPHALOPATHY, MEGALENCEPHALIC, WITH SUBCORTICAL CYSTS, 1 (MLC1)
  MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1
23
3
8
2
16
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Swiss-Prot Protein: Q15049
Identical to: NP_631941, NP_055981
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067766Diseasep.ALA245PROLeukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1)
Swiss-ProtVAR_067764Diseasep.ARG84CYSLeukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1)
Swiss-ProtVAR_017440Diseasep.ASN141LYSLeukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1)
Swiss-ProtVAR_017441Diseasep.ASN141SERLeukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1)
dbSNPrs11568188 Polymorphismp.ASN344SERN/A
Swiss-ProtVAR_067765Diseasep.CYS125ARGLeukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1)
dbSNPrs6010260 Polymorphismp.CYS171PHEN/A
Swiss-ProtVAR_011701Diseasep.GLY212ARGLeukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1)
Swiss-ProtVAR_017438Diseasep.GLY59GLULeukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1)
Swiss-ProtVAR_012731Polymorphismp.LEU309METN/A
Swiss-ProtVAR_067763Diseasep.MET80ILELeukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1)
Swiss-ProtVAR_017439Diseasep.PRO92SERLeukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1)
Swiss-ProtVAR_067767Diseasep.SER246ARGLeukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1)
Swiss-ProtVAR_011702Diseasep.SER280LEULeukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1)
Swiss-ProtVAR_067762Diseasep.SER69LEULeukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1)
Swiss-ProtVAR_011699Diseasep.SER93LEULeukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1)
Swiss-ProtVAR_011700Diseasep.THR118ARGLeukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1)
Swiss-ProtVAR_067768Diseasep.THR320LYSLeukoencephalopathy, megalencephalic, with subcortical cysts, 1 (MLC1)
OMIM605908.0005 Diseasep.ASN141LYSMEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1
OMIM605908.0006 Diseasep.ASN141SERMEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1
OMIM605908.0009 Diseasep.GLY59GLUMEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1
OMIM605908.0007 Diseasep.PRO92SERMEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1
OMIM605908.0001 Diseasep.SER280LEUMEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1
OMIM605908.0013 Diseasep.SER69LEUMEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1
OMIM605908.0002 Diseasep.SER93LEUMEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1
OMIM605908.0008 Diseasep.TYR198TERMEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1



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