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Results for the Protein: Q9UBK8
296439300

MTRR_HUMAN RecName: Full=Methionine synthase reductase; Short=MSR

Known Diseases associated with this Protein:
  DOWN SYNDROME, SUSCEPTIBILITY TO, INCLUDED
  HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLE COMPLEMENTATION TYPE
  HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLE COMPLEMENTATION TYPE (HMAE)
  NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO
8
9
3
6
8
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Default View:

CysJ - COG0369
FldA - COG0716
Flavodoxin_1 - pfam00258
FAD_binding_1 - pfam00667
CYPOR - cd06204
CyPoR_like - cd06207
SiR - cd06199
CYPOR_like - cd06182
methionine_synthase_ - cd06203
bifunctional_CYPOR - cd06206
FNR_like - cd00322
Nitric_oxide_synthas - cd06202
SiR_like2 - cd06201
SiR_like1 - cd06200
FNR1 - cd06195
CYPOR_like_FNR - cd06208
NAD_binding_1 - pfam00175


Swiss-Prot Protein: Q9UBK8
Identical to: NP_076915
   Default View:
















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FldACOG07165.4e-1328177
CYPORcd062042.7e-96296724
CYPOR_likecd061822.6e-206304724
SiRcd061991.8e-59304724
methionine_synthase_cd062035e-272304724
CyPoR_likecd062072.3e-89304724
bifunctional_CYPORcd062066.5e-35305724
FNR_likecd003221e-118306722
Nitric_oxide_synthascd062021.5e-39307720
SiR_like2cd062012e-10426724
SiR_like1cd062008.5e-11446724
FNR1cd061950.00068450704
CYPOR_like_FNRcd062081.9e-07498719
Flavodoxin_1pfam002583.1e-4033169
FAD_binding_1pfam006671.3e-48294519
NAD_binding_1pfam001752.3e-22569689

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_012839Diseasep.ALA156THRHomocystinuria-megaloblastic anemia, cblE complementation type (HMAE)
Swiss-ProtVAR_056947Polymorphismp.ALA542VALN/A
dbSNPrs2287780 Polymorphismp.ARG442CYSN/A
Swiss-ProtVAR_012841Diseasep.CYS432ARGHomocystinuria-megaloblastic anemia, cblE complementation type (HMAE)
Swiss-ProtVAR_012842Diseasep.GLY514ARGHomocystinuria-megaloblastic anemia, cblE complementation type (HMAE)
Swiss-ProtVAR_015731Diseasep.GLY581ARGHomocystinuria-megaloblastic anemia, cblE complementation type (HMAE)
Swiss-ProtVAR_014944Polymorphismp.HIS622TYRN/A
dbSNPrs1801394 Polymorphismp.ILE49METN/A
dbSNPrs10064631 Polymorphismp.LEU360VALN/A
dbSNPrs162036 Polymorphismp.LYS377ARGN/A
dbSNPrs16879334 Polymorphismp.PRO477ARGN/A
Swiss-ProtVAR_034595Polymorphismp.SER202LEUN/A
dbSNPrs2303080 Polymorphismp.SER284THRN/A
Swiss-ProtVAR_012838Diseasep.VAL83METHomocystinuria-megaloblastic anemia, cblE complementation type (HMAE)
OMIM602568.0004 Diseasep.GLY487ARGHOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE
OMIM602568.0003 Diseasep.ILE22METNEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO||DOWN SYNDROME, SUSCEPTIBILITY TO, INCLUDED
OMIM602568.0007 Diseasep.SER454LEUHOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE



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