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Results for the Protein: P19971
67477361

TYPH_HUMAN RecName: Full=Thymidine phosphorylase; Short=TP; AltName: Full=Gliostatin; AltName: Full=Platelet-derived endothelial cell growth factor; Short=PD-ECGF; AltName: Full=TdRPase; Flags: Precursor

Known Diseases associated with this Protein:
  MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
  MITOCHONDRIAL DNA DEPLETION SYNDROME 1, MNGIE TYPE (MTDPS1)
14
1
9
1
5
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Default View:

TrpD - COG0547
DeoA - COG0213
Glycos_trans_3N - pfam02885
Glycos_transf_3 - pfam00591
PYNP_C - pfam07831




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DeoACOG02139.2e-14133475
TrpDCOG05479.3e-0633352
Glycos_trans_3Npfam028853.3e-1835100
Glycos_transf_3pfam005914.3e-81109363
PYNP_Cpfam078311e-09388462

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_016777Diseasep.ARG44GLNMitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1)
Swiss-ProtVAR_007646Diseasep.GLU289ALAMitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1)
Swiss-ProtVAR_007643Diseasep.GLY145ARGMitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1)
Swiss-ProtVAR_007644Diseasep.GLY153SERMitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1)
Swiss-ProtVAR_007645Diseasep.LYS222ARGMitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1)
dbSNPrs11479 Polymorphismp.SER471LEUN/A
OMIM131222.0009 Diseasep.ARG44GLNMITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
OMIM131222.0013 Diseasep.ARG202THRMITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
OMIM131222.0001 Diseasep.GLU289ALAMITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
OMIM131222.0003 Diseasep.GLY145ARGMITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
OMIM131222.0012 Diseasep.GLY311ARGMITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
OMIM131222.0008 Diseasep.GLY153SERMITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
OMIM131222.0014 Diseasep.LEU285PROMITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
OMIM131222.0004 Diseasep.LYS222SERMITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
OMIM131222.0011 Diseasep.VAL208METMITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)



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