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Results for the Protein: P07195
126041

LDHB_HUMAN RecName: Full=L-lactate dehydrogenase B chain; Short=LDH-B; AltName: Full=LDH heart subunit; Short=LDH-H; AltName: Full=Renal carcinoma antigen NY-REN-46

Known Diseases associated with this Protein:
  LACTATE DEHYDROGENASE B DEFICIENCY
4
12
4
0
12
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Swiss-Prot Protein: P07195
Identical to: NP_002291, NP_001167568
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_004174Polymorphismp.ALA35GLUN/A
Swiss-ProtVAR_004177Polymorphismp.ARG172HISN/A
Swiss-ProtVAR_011636Polymorphismp.ARG172PRON/A
Swiss-ProtVAR_011635Polymorphismp.ARG107TRPN/A
Swiss-ProtVAR_004179Polymorphismp.ASP322VALN/A
Swiss-ProtVAR_011634Polymorphismp.GLY69GLUN/A
Swiss-ProtVAR_004173Polymorphismp.LYS7GLUN/A
Swiss-ProtVAR_004178Polymorphismp.MET175LEUN/A
Swiss-ProtVAR_049758Polymorphismp.MET175VALN/A
Swiss-ProtVAR_004176Polymorphismp.PHE171VALN/A
Swiss-ProtVAR_004175Polymorphismp.SER129ARGN/A
Swiss-ProtVAR_011638Polymorphismp.TRP325ARGN/A
OMIM150100.0001 Diseasep.ARG173HISLACTATE DEHYDROGENASE B DEFICIENCY
OMIM150100.0003 Diseasep.LYS6GLULACTATE DEHYDROGENASE B DEFICIENCY
OMIM150100.0002 Diseasep.SER131ARGLACTATE DEHYDROGENASE B DEFICIENCY
OMIM150100.0004 Diseasep.TRP323ARGLACTATE DEHYDROGENASE B DEFICIENCY



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