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Results for the Protein: Q99707
2842762
MTR

METH_HUMAN RecName: Full=Methionine synthase; AltName: Full=5-methyltetrahydrofolate--homocysteine methyltransferase; AltName: Full=Vitamin-B12 dependent methionine synthase; Short=MS

Known Diseases associated with this Protein:
  HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE
  HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE (HMAG)
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Default View:

MetH - COG0646
MHT1 - COG2040
S-methyl_trans - pfam02574
MetH - COG1410
Pterin_bind - pfam00809
Pterin_binding - cd00423
MeTr - cd00740
COG5012 - COG5012
B12-binding_2 - pfam02607
methionine_synthase_ - cd02069
corrinoid_protein_B1 - cd02070
B12-binding - pfam02310
B12-binding - cd02067
Glm_B12_BD - cd02072
B12-binding_like - cd02065
Met_synt_B12 - pfam02965


Swiss-Prot Protein: Q99707
Identical to: NP_000245
   Default View:










Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MetHCOG14103411230
Pterin_bindingcd004238e-89371627
MeTrcd007409.9e-183371627
methionine_synthase_cd020691.2e-153671897
corrinoid_protein_B1cd020707.1e-34675895
B12-binding_likecd020653.1e-37774895
B12-bindingcd020671.6e-54774895
Glm_B12_BDcd020727e-05774888
MHT1COG20406e-1322342
S-methyl_transpfam025741e-16130340
Pterin_bindpfam008094.5e-75371583
COG5012COG50122.7e-23659899
B12-binding_2pfam026076.9e-33669749
B12-bindingpfam023106.9e-23773885
Met_synt_B12pfam029651.3e-7510941230

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_050033Polymorphismp.ARG52GLNN/A
dbSNPrs61736326 Polymorphismp.ARG1164HISN/A
Swiss-ProtVAR_004326Polymorphismp.ARG61LYSN/A
dbSNPrs61739582 Polymorphismp.ASN1222SERN/A
Swiss-ProtVAR_061338Polymorphismp.ASP314ASNN/A
dbSNPrs1805087 Polymorphismp.ASP919GLYN/A
Swiss-ProtVAR_004327Polymorphismp.CYS255TYRN/A
Swiss-ProtVAR_004330Diseasep.HIS920ASPHomocystinuria-megaloblastic anemia, cblG complementation type (HMAG)
Swiss-ProtVAR_004331Diseasep.PRO1173LEUHomocystinuria-megaloblastic anemia, cblG complementation type (HMAG)
OMIM156570.0011 Diseasep.ALA410PROHOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE
OMIM156570.0009 Diseasep.ARG585TERHOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE
OMIM156570.0010 Diseasep.GLU1204TERHOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE
OMIM156570.0003 Diseasep.HIS920ASPHOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE
OMIM156570.0001 Diseasep.PRO1173LEUHOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE



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