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Results for the Protein: Q9Y259
6685604

CHKB_HUMAN RecName: Full=Choline/ethanolamine kinase; AltName: Full=Choline kinase beta; Short=CK; Short=CKB; AltName: Full=Choline kinase-like protein; AltName: Full=Ethanolamine kinase; Short=EK; AltName: Full=Ethanolamine kinase beta; Short=EKB; AltName: Full=choline/ethanolamine kinase beta; Short=CKEKB

Known Diseases associated with this Protein:
  MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE
3
0
3
0
0
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Default View:

ycfN - COG0510
ChoK - cd05151
ETNK_euk - cd05157
ChoK_euk - cd05156
APH_ChoK_like - cd05120
APH - pfam01636
Choline_kinase - pfam01633


Swiss-Prot Protein: Q9Y259
Identical to: NP_005189
   Default View:









Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ycfNCOG05103.9e-0753392
APH_ChoK_likecd051204.5e-2469287
ChoK_eukcd051561e-14069360
ETNK_eukcd051574e-2869313
ChoKcd051514.2e-5269304
APHpfam016368.6e-0570316
Choline_kinasepfam016331.1e-10297308

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM612395.0004 Diseasep.GLN308TERMUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE
OMIM612395.0002 Diseasep.SER39TERMUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE
OMIM612395.0001 Diseasep.TYR270TERMUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE



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