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Results for the Protein: Q14CZ8
121945515

HECAM_HUMAN RecName: Full=Hepatocyte cell adhesion molecule; Short=Protein hepaCAM; Flags: Precursor

Known Diseases associated with this Protein:
  LEUKOENCEPHALOPATHY, MEGALENCEPHALIC, WITH SUBCORTICAL CYSTS, 2A (MLC2A)
  LEUKOENCEPHALOPATHY, MEGALENCEPHALIC, WITH SUBCORTICAL CYSTS, 2B (MLC2B)
  MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
  MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,
  WITH MENTAL RETARDATION
  WITH OR WITHOUT MENTAL RETARDATION
19
4
8
4
11
Tips:
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Default View:

IG_like - smart00410
IG - smart00409
V-set - pfam07686
Ig_SLAM-CD84_like_N - cd05775
Ig_CEACAM_D1_like - cd05741
Ig_CEACAM_D4 - cd05740
I-set - pfam07679
Ig2_Robo - cd05724
IGc2 - smart00408
ig - pfam00047
Ig - cd00096


Swiss-Prot Protein: Q14CZ8
Identical to: NP_689935
   Default View:










Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Ig_SLAM-CD84_like_Ncd057755.4e-0645142
Ig_CEACAM_D1_likecd057412.8e-0648141
Ig_CEACAM_D4cd057402.3e-06147236
Ig2_Robocd057249e-05154235
Igcd000962.5e-10164232
igpfam000474.1e-10161219
IGsmart004093.8e-0740142
IG_likesmart004103.8e-0740142
V-setpfam076861.4e-0642141
I-setpfam076790.00035148235
IGsmart004096.4e-13153236
IG_likesmart004106.4e-13153236
IGc2smart004085e-08160224

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065860Diseasep.ARG288CYSLeukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B)
Swiss-ProtVAR_065854Diseasep.ARG98CYSLeukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A)
Swiss-ProtVAR_065852Diseasep.ARG92GLNLeukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A)
dbSNPrs35446349 Polymorphismp.ARG3THRN/A
Swiss-ProtVAR_065853Diseasep.ARG92TRPLeukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B)
dbSNPrs116102273 Polymorphismp.ASN324SERN/A
Swiss-ProtVAR_065855Diseasep.ASP128ASNLeukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B)
Swiss-ProtVAR_065859Diseasep.ASP211ASNLeukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A)
dbSNPrs77759828 Polymorphismp.GLN284ARGN/A
Swiss-ProtVAR_065850Diseasep.GLY89ASPLeukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B)
Swiss-ProtVAR_065851Diseasep.GLY89SERLeukoencephalopathy, megalencephalic, with subcortical cysts, 2B (MLC2B)
Swiss-ProtVAR_065849Diseasep.LEU23HISLeukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A)
dbSNPrs10790715 Polymorphismp.MET218VALN/A
Swiss-ProtVAR_065857Diseasep.PRO148SERLeukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A)
Swiss-ProtVAR_065858Diseasep.SER196TYRLeukoencephalopathy, megalencephalic, with subcortical cysts, 2A (MLC2A)
OMIM611642.0005 Diseasep.ARG98CYSMEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
OMIM611642.0003 Diseasep.ARG92GLNMEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
OMIM611642.0008 Diseasep.ARG92TRPMEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,||WITH OR WITHOUT MENTAL RETARDATION
OMIM611642.0004 Diseasep.ASP211ASNMEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
OMIM611642.0007 Diseasep.GLY89ASPMEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,||WITH MENTAL RETARDATION
OMIM611642.0006 Diseasep.GLY89SERMEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING,||WITH OR WITHOUT MENTAL RETARDATION
OMIM611642.0001 Diseasep.SER196TYRMEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
OMIM611642.0002 Diseasep.TRP263TERMEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A



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