ATPase, Cu(2+)-Transporting, Beta Polypeptide

Alternative Names

  • ATP7B

Associated Diseases

Wilson Disease
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OMIM Number

606882

NCBI Gene ID

870

Uniprot ID

P35670

Length

121,040 bases

No. of Exons

28

No. of isoforms

5

Protein Name

Copper-transporting ATPase 2

Molecular Mass

157263 Da

Amino Acid Count

1465

Genomic Location

chr13:51,891,086-52,012,125

Gene Map Locus
13q14.3

Description

The ATP7B gene codes for a protein with eight transmembrane domains that form a channel through cell membranes for Cu translocation. So far, more than 400 mutations have been described in the ATP7B gene, giving rise to Wilson Disease. 

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000053.3:c.1186G>TEgyptNC_000013.11:g.51974034C>APathogenicWilson DiseaseNG_008806.1:g.42461G>T; NM_000053.3:c.1186G>T; NP_000044.2:p.Glu396Ter201874048
NM_000053.3:c.1216T>GLebanon; OmanNC_000013.11:g.51974004A>CBenign, Likely Benign, Uncertain SignificanceLikely BenignNG_008806.1:g.42491T>G; NM_000053.3:c.1216T>G; NP_000044.2:p.Ser406Ala180124335701
NM_000053.3:c.1366G>COmanNC_000013.11:g.51970669C>GBenignLikely BenignNG_008806.1:g.45826G>C; NM_000053.3:c.1366G>C; NP_000044.2:p.Val456Leu180124435702
NM_000053.3:c.1544-53A>COmanNC_000013.11:g.51968660T>GLikely BenignNG_008806.1:g.47835A>C; NM_000053.3:c.1544-53A>C; NP_000044.2:p.?2147363
NM_000053.3:c.1646T>CEgyptNC_000013.11:g.51968505A>GPathogenicWilson DiseaseNG_008806.1:g.47990T>C; NM_000053.3:c.1646T>C ; NP_000044.2:p.Leu549Pro
NM_000053.3:c.1707+5G>AEgyptNC_000013.11:g.51968439C>TPathogenicNG_008806.1:g.48056G>A; NM_000053.3:c.1707+5G>A; NP_000044.2:p.?
NM_000053.3:c.1772G>AEgyptNC_000013.11:g.51964969C>TLikely Pathogenic, PathogenicPathogenicWilson DiseaseNG_008806.1:g.51526G>A; NM_000053.3:c.1772G>A; NP_000044.2:p.Gly591Asp797045402210482
NM_000053.3:c.1924G>CEgyptNC_000013.11:g.51961859C>GLikely Pathogenic, PathogenicPathogenicWilson DiseaseNG_008806.1:g.54636G>C; NM_000053.3:c.1924G>C ; NP_000044.2:p.Asp642His72552285189109
NM_000053.3:c.2049_2053delCCTTGGinsTTTCEgyptChr13:51960216_51960220PathogenicNG_008806.1:g.56275_56279 ; NM_000053.3:c.2049_2053delCCTTGGinsTTTC; NP_000044.2:p.Val683_Leu684delinVal
NM_000053.3:c.2071G>ALebanonNC_000013.11:g.51960198C>TLikely Pathogenic, PathogenicPathogenicWilson DiseaseNG_008806.1:g.56297G>A; NM_000053.3:c.2071G>A; NP_000044.2:p.Gly691Arg1219080013866
NM_000053.3:c.2108G>AEgyptNC_000013.11:g.51960161C>TLikely Pathogenic, PathogenicPathogenicWilson DiseaseNG_008806.1:g.56334G>A; NM_000053.3:c.2108G>A; NP_000044.2:p.Cys703Tyr7672188951177269
NM_000053.3:c.2231T>CEgyptChr13:51958431NG_008806.1:g.58060T>C ; NM_000053.3:c.2231T>C; NP_000044.2:p.Ser744Pro
NM_000053.3:c.2293G>AEgyptNC_000013.11:g.51958373C>TPathogenicPathogenicWilson DiseaseNG_008806.1:g.58122G>A; NM_000053.3:c.2293G>A ; NP_000044.2:p.Asp765Asn289420753855
NM_000053.3:c.2332C>GEgyptNC_000013.11:g.51958334G>CLikely Pathogenic, PathogenicPathogenicWilson DiseaseNG_008806.1:g.58161C>G; NM_000053.3:c.2332C>G; NP_000044.2:p.Arg778Gly137853284156283
NM_000053.3:c.2448-25G>AOmanNC_000013.11:g.51950424C>TBenignBenignNG_008806.1:g.66071G>A; NM_000053.3:c.2448-25G>A; NP_000044.2:p.?9526811254764
NM_000053.3:c.2450delAEgyptNC_000013.11:g.51950397delPathogenicWilson DiseaseNG_008806.1:g.66098del; NM_000053.3:c.2450delA; NP_000044.2:p.Glu817GlyfsTer56
NM_000053.3:c.2495A>GLebanon; OmanNC_000013.11:g.51950352T>CBenign, Uncertain SignificanceBenign, Likely BenignNG_008806.1:g.66143A>G; NM_000053.3:c.2495A>G; NP_000044.2:p.Lys832Arg106147235707
NM_000053.3:c.2532delAEgypt; LebanonNC_000013.11:g.51950317delPathogenicPathogenicWilson DiseaseNG_008806.1:g.66180del; NM_000053.3:c.2532delA; NP_000044.2:p.Val845SerfsTer28755709270188883
NM_000053.3:c.2634T>A/GEgyptChr13:51950104PathogenicWilson DiseaseNG_008806.1:g.66397A>G; NM_000053.3:c.2634T>A/G; NP_000044.2:p.p.Asn878Lys
NM_000053.3:c.2817G>TLebanonNC_000013.11:g.51949710C>ALikely PathogenicPathogenicWilson DiseaseNG_008806.1:g.66785G>T; NM_000053.3:c.2817G>T; NP_000044.2:p.Trp939Cys1057517310371483
NM_000053.3:c.2855G>ALebanon; OmanNC_000013.11:g.51949672C>TBenign, Uncertain SignificanceBenign, Likely BenignNG_008806.1:g.66823G>A; NM_000053.3:c.2855G>A; NP_000044.2:p.Arg952Lys73277435708
NM_000053.3:c.2866-2A>GOmanNC_000013.11:g.51946480T>CLikely PathogenicNG_008806.1:g.70015A>G; NM_000053.3:c.2866-2A>G; NP_000044.2:p.?1377418826
NM_000053.3:c.2866-90G>TOmanNC_000013.11:g.51946568C>ABenignLikely BenignNG_008806.1:g.69927G>T; NM_000053.3:c.2866-90G>T; NP_000044.2:p.?2296246676104
NM_000053.3:c.2930C>TEgyptNC_000013.11:g.51946414G>APathogenicPathogenicWilson DiseaseNG_008806.1:g.70081C>T; NM_000053.3:c.2930C>T; NP_000044.2:p.Thr977Met7255225535710
NM_000053.3:c.2993G>AEgyptNC_000013.11:g.51946351C>TPathogenicWilson DiseaseNG_008806.1:g.70144G>A; NM_000053.3:c.2993G>A ; NP_000044.2:p.Gly998Asp
NM_000053.3:c.2997insCEgyptChr13:51946347PathogenicWilson DiseaseNG_008806.1:g.70148insC ; NM_000053.3:c.2997insC ; NP_000044.2:p.Gly1000fs
NM_000053.3:c.3009G>ALebanonNC_000013.11:g.51946335C>TBenignBenignNG_008806.1:g.70160G>A; NM_000053.3:c.3009G>A; NP_000044.2:p.Ala1003=180124735714
NM_000053.3:c.3045G>AOmanNC_000013.11:g.51946299C>TBenign, Uncertain SignificanceLikely BenignNG_008806.1:g.70196G>A; NM_000053.3:c.3045G>A; NP_000044.2:p.Leu1015=180124835716
NM_000053.3:c.3188C>TEgyptNC_000013.11:g.51944164G>ABenign, Likely Pathogenic, Pathogenic, Uncertain SignificancePathogenicNG_008806.1:g.72331C>T; NM_000053.3:c.3188C>T; NP_000044.2:p.Ala1063Val587783309157945
NM_000053.3:c.3207C>AEgyptNC_000013.11:g.51944145G>TPathogenicPathogenicNG_008806.1:g.72350C>A; NM_000053.3:c.3207C>A; NP_000044.2:p.His1069Gln761516363848
NM_000053.3:c.3207C>TEgyptNC_000013.11:g.51944145G>APathogenicWilson DiseaseNG_008806.1:g.72350C>T; NM_000053.3:c.3207C>T; NP_000044.2:p.His1069=76151636
NM_000053.3:c.330delAEgyptNC_000013.11:g.51974891delPathogenicWilson DiseaseNG_008806.1:g.41605del; NM_000053.3:c.330delA; NP_000044.2:p.Gln110HisfsTer43
NM_000053.3:c.3373_3377delATAinsTCTEgyptChr13:51942421_51942425PathogenicWilson DiseaseNG_008806.1:g.74070_74074delATAinsTCT ; NM_000053.3:c.3373_3377delATAinsTCT; NP_000044.2:p.His1126fs
NM_000053.3:c.3419T>CLebanon; OmanNC_000013.11:g.51941218A>GBenign, Uncertain SignificanceBenign, Likely BenignNG_008806.1:g.75277T>C; NM_000053.3:c.3419T>C; NP_000044.2:p.Val1140Ala180124935720
NM_000053.3:c.3443T>CEgyptNC_000013.11:g.51941194A>GLikely PathogenicPathogenicWilson DiseaseNG_008806.1:g.75301T>C; NM_000053.3:c.3443T>C ; NP_000044.2:p.Ile1148Thr6043198937122
NM_000053.3:c.3620A>GEgyptNC_000013.11:g.51939130T>CBenign, Likely BenignLikely PathogenicNG_008806.1:g.77365A>G; NM_000053.3:c.3620A>G ; NP_000044.2:p.His1207Arg733411835724
NM_000053.3:c.3659C>TEgyptNC_000013.11:g.51939091G>ALikely Pathogenic, PathogenicPathogenicWilson DiseaseNG_008806.1:g.77404C>T; NM_000053.3:c.3659C>T; NP_000044.2:p.Thr1220Met19392210735725
NM_000053.3:c.3683G>CEgypt; LebanonNC_000013.11:g.51939067C>GPathogenicWilson DiseaseNG_008806.1:g.77428G>C; NM_000053.3:c.3683G>C; NP_000044.2:p.Arg1228Thr
NM_000053.3:c.3734G>T EgyptChr13:51937645PathogenicWilson DiseaseNG_008806.1:g.78850G>T ; NM_000053.3:c.3734G>T ; NP_000044.2:p.Pro1245Leu
NM_000053.3:c.3809A>GEgypt; LebanonNC_000013.11:g.51937570T>CPathogenicPathogenicWilson DiseaseNG_008806.1:g.78925A>G; NM_000053.3:c.3809A>G; NP_000044.2:p.Asn1270Ser1219079903859
NM_000053.3:c.3818C>TEgypt; LebanonNC_000013.11:g.51937561G>ALikely Pathogenic, PathogenicPathogenicWilson DiseaseNG_008806.1:g.78934C>T; NM_000053.3:c.3818C>T; NP_000044.2:p.Pro1273Leu758355520189139
NM_000053.3:c.3903+6C>TOmanNC_000013.11:g.51937470G>ABenignLikely BenignNG_008806.1:g.79025C>T; NM_000053.3:c.3903+6C>T; NP_000044.2:p.?228205735727
NM_000053.3:c.3904-2A>GEgyptNC_000013.11:g.51937395T>CPathogenicPathogenicWilson DiseaseNG_008806.1:g.79100A>G; NM_000053.3:c.3904-2A>G; NP_000044.2:p.?1057517233371387
NM_000053.3:c.3955C>TEgypt; LebanonNC_000013.11:g.51937342G>APathogenicPathogenicWilson DiseaseNG_008806.1:g.79153C>T; NM_000053.3:c.3955C>T; NP_000044.2:p.Arg1319Ter19392210935728
NM_000053.3:c.3994A>GEgyptNC_000013.11:g.51937303T>CPathogenicWilson DiseaseNG_008806.1:g.79192A>G; NM_000053.3:c.3994A>G; NP_000044.2:p.Asn1332Asp
NM_000053.3:c.4021G>ASaudi ArabiaNC_000013.11:g.51937276C>TLikely Pathogenic, PathogenicPathogenicWilson DiseaseNG_008806.1:g.79219G>A; NM_000053.3:c.4021G>A; NP_000044.2:p.Gly1341Ser587783317157955
NM_000053.3:c.4021G>CEgyptNC_000013.11:g.51937276C>GPathogenicWilson DiseaseNG_008806.1:g.79219G>C; NM_000053.3:c.4021G>C; NP_000044.2:p.Gly1341Arg587783317
NM_000053.3:c.4022G>AEgyptNC_000013.11:g.51935695C>TLikely Pathogenic, PathogenicPathogenicWilson DiseaseNG_008806.1:g.80800G>A; NM_000053.3:c.4022G>A ; NP_000044.2:p.Gly1341Asp779494870665925
NM_000053.3:c.4195delSaudi ArabiaNC_000013.11:g.51934961delPathogenicLikely PathogenicWilson DiseaseNG_008806.1:g.81536del; NM_000053.3:c.4195del; NP_000044.2:p.Gln1399ArgfsTer6886041336280040
NM_000053.3:c.4230G>A EgyptNC_000013.11:g.51934924C>TPathogenicNG_008806.1:g.81571G>A; NM_000053.3:c.4230G>A ; NP_000044.2:p.Trp1410Ter
NM_000053.3:c.4301C>TEgyptNC_000013.11:g.51934853G>ABenign, Likely Benign, Uncertain SignificancePathogenicNG_008806.1:g.81642C>T; NM_000053.3:c.4301C>T ; NP_000044.2:p.Thr1434Met6098631735730
NM_000053.3:c.509delAEgyptChr13:51974713PathogenicWilson DiseaseNG_008806.1:g.41782delA ; NM_000053.3:c.509delA; NP_000044.2:p.Gly170fs
NM_000053.4:c.2304dupEgypt; LebanonNC_000013.11:g.51958367dupPathogenicPathogenicWilson DiseaseNG_008806.1:g.58133dup; NM_000053.4:c.2304dup; NP_000044.2:p.Met769HisfsTer26137853287456552
NM_000053.4:c.3007G>ALebanonNC_000013.11:g.51946337C>TLikely Pathogenic, PathogenicPathogenicWilson DiseaseNG_008806.1:g.70158G>A; NM_000053.4:c.3007G>A; NP_000044.2:p.Ala1003Thr201497300188802
NM_000053.4:c.3275C>TLebanonchr13:51942523Likely PathogenicPathogenicWilson DiseaseNG_008806.1:g.73972C>T; NM_000053.4:c.3275C>T; NP_000044.2:p.Thr1092Met368545738312382

Other Reports

Lebanon

 

 

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