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Results for the Protein: P23526
20141702
191

SAHH_HUMAN RecName: Full=Adenosylhomocysteinase; Short=AdoHcyase; AltName: Full=S-adenosyl-L-homocysteine hydrolase

Known Diseases associated with this Protein:
  HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
  HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY (HMAHCHD)
6
2
2
0
6
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Default View:

SAM1 - COG0499
AdoHcyase - pfam05221
SAHH - cd00401
AdoHcyase_NAD - pfam00670


Swiss-Prot Protein: P23526
Identical to: NP_000678
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SAM1COG04994.9e-2863424
SAHHcd0040112424
AdoHcyase_NADpfam006701.4e-116191352
AdoHcyasepfam052215431

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_058590Diseasep.ALA89VALHypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD)
Swiss-ProtVAR_058588Diseasep.ARG49CYSHypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD)
Swiss-ProtVAR_052286Polymorphismp.ARG38TRPN/A
Swiss-ProtVAR_006934Polymorphismp.ASP86ASNN/A
Swiss-ProtVAR_058589Diseasep.ASP86GLYHypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD)
Swiss-ProtVAR_058591Diseasep.TYR143CYSHypermethioninemia with S-adenosylhomocysteine hydrolase deficiency (HMAHCHD)
OMIM180960.0001 Diseasep.TRP112TERHYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY
OMIM180960.0002 Diseasep.TYR143CYSHYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY



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