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ATP7B

From SNPedia

is agene
is mentioned by
Full nameATPase, Cu++ transporting, beta polypeptide
EntrezGene540
PheGenI540
VariationViewer540
ClinVarATP7B
GeneCardsATP7B
dbSNP540
SADR540
HugeNav540
wikipediaATP7B
googleATP7B
gopubmedATP7B
EVSATP7B
HEFalMpATP7B
MyGene2ATP7B
23andMeATP7B
UniProtP35670
EnsemblENSG00000123191
OMIM606882
# SNPs98
 Max MagnitudeChromosome positionSummary
rs1061472051,950,352
rs121907990051,937,570
rs121907992051,937,583
rs121907993051,949,772
rs121907994051,950,116
rs121907996051,946,438
rs121907997051,958,369
rs121907998051,961,849
rs121907999051,974,355
rs121908000051,958,543
rs121908001051,960,198
rs137853279051,941,111
rs137853280051,965,034
rs137853281051,942,396
rs137853282051,958,329
rs137853283051,958,330
rs137853284051,958,334
rs137853285051,958,538
rs137853286051,942,398
rs137853287051,958,367
rs138427376051,968,544
rs181250704051,935,019
rs184388696051,941,080
rs184868522051,975,122
rs191312027051,950,132
rs193922102051,958,552
rs193922103051,958,361
rs193922104051,946,391
rs193922107051,939,091
rs193922108051,937,679
rs193922109051,937,342
rs193922110051,935,659
rs193922111051,974,375
rs201038679051,946,369
rs201497300051,946,337
rs201738967051,975,098
rs28942074051,958,333
rs28942075051,958,373
rs28942076051,949,700
rs367956522051,949,798
rs371840514051,946,291
rs372436901051,960,300
rs398123137051,974,305
rs41292782051,946,372
rs558037268051,974,695
rs572147914051,974,407
rs587783306051,949,661
rs587783307051,946,333
rs587783317051,937,276
rs587783318051,935,678
... further results


ATP7B codes for a protein that transports copper out of cells. Varied defects (over 20 distinct mutations) in ATP7B are associated with Wilson's disease [PMID 15523622]. The specific mutation affects the ceruloplasmin level, severity, and age of onset [PMID 16283883].

Mutations associated with Wilson's include:

  • -36C-->T
  • Trp650ter
  • Gln914ter
  • 2810delT
  • Thr935Met
  • Arg1041Pro
  • Glu1173Lys
  • 1168A-->G (Ile390Val)
  • 2785A-->G (Ile929Val)
  • 3316G-->A (Val1106Ile)
  • Arg778Leu
  • Thr935Met. [PMID 11405812]

Arg778Leu and Thr935Met accounted for almost half of Chinese Wilson's patients in one study. [PMID 11405812]