ATP7B Mutations
 
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Metal-binding sites
  • MBS 1 [PDB]
  • MBS 2 [PDB]
  • MBS 3 [PDB]
  • MBS 4 [PDB]
  • MBS 5 [PDB]
  • MBS 6 [PDB]
    • Transmembrane Segments
  • TM Segment 1
  • TM Segment 2
  • TM Segment 3
  • TM Segment 4
  • TM Segment 5
  • TM Segment 6
  • TM Segment 7
  • TM Segment 8
    • ATP-Binding Domain
  • ATP BD structure model
    • Alignments
  • Cu-transporters
  • Phylogenetic tree [RESTRICTED]
    • WNDP mutations
     

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    ATP7B mutations (excluding variants and stop mutations) were obtained from the records about ATP7B on the GenDis web site at the Weizmann Institute and the NBCI Protein Database.

    Mutations of Invariantly Conserved Residues
    Location
    Results of Mutation
    MBS6 Gly626>Ala
    TMS2 Gly711>[Glu, Arg, Trp]
    TMS3 Ser744>Pro
    Loop 4-5 Asp918>Asn
    TMS6 Cys985>Tyr
    P-domain Thr1031>Ile
    Gly1035>Val
    Gly1266>[Arg, Val]
    Asp1267>Ala
    Asn1270>Ser
    Pro1273>Leu
    Glu1064>Ala
    N-domain Glu1064>Lys
    His1069>Gln
    Gly1213>Val
    Thr1220>Met
    Asp1222>[Val, Tyr]
    TMS8 Ser1363>Phe
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    Mutations Proximal to
    Conserved Residues (<4 AA away)    		 Mutations in other locations
    Location Results of Mutation Location Results of Mutation
    TMS2 Leu708>Pro MBS1 Gly85>Val
      Gly710>[Ser, Arg] MBS5 Leu492>Ser
      Tyr713>Cys MBS6 Phe608 Asp609 >Tyr
    TMS3 Tyr741>Cys
    Ile747>Phe    		   Arg616>Gln
    Asp642>His
    TMS4 Arg778>[Gln, Leu, Gly Trp]   Met645>Arg
    Loop 4-5 Pro840>Leu TMS1 Met665>Ile
      Ile857>Thr Loop 1-2 Gly691>Arg
      Gly869>[Arg, Val] TMS4 Asp765>Asn
      Ala874>Val   Met769>[Arg, Val]
      Arg919>[Gly, Trp]
    Ser921>Asn    		 Loop 4-5 Leu795>[Phe, Arg]
    Gly891>Val
    TMS6 Thr977>Met TMS5 Thr933>Pro
    P-domain Pro992>Leu   Gly943>[Asp, Ser]
      Ala1018>Val
    Thr1033>Ala    		 Loop 5-6 Ile967>Phe
    Arg969>Gln
      Arg1038>Lys
    Ala1278>Val
    Arg1322>Pro    		 P-domain Ala1003>[Thr, Val]
    Arg1041>[Pro, Trp]
    Leu1043>Pro
    N-domain Gly1061>Glu
    Glu1068>Gly
    Val1216>Met    		   Pro1052>Leu
    Val1239>Gly
    Val1262>Phe
    TMS7 Leu1327>Val   Ser1310>Arg
      Gly1341>Asp N-domain Leu1083>Phe
    Gly1089>[Glu, Val]
    Glu1095>Pro
    Gly1101>Arg
    Ile1102>Thr
    Cys1104>Phe
    Val1106>Asp
    Glu1142>His
    Val1146>Met
    Ile1148>Thr
    Arg1151>His
    Trp1153>[Cys, Arg]
    Met1169>Thr
    Glu1173>Lys
    Gly1176>Arg
    Ala1183>[Gly, Thr]
    Gly1186>[Cys, Ser]
        TMS8 Trp1353>Arg
    Gly1355>Ser
    Ala1358>Ser
        C-terminus Thr1434>Met
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    Designed and maintained by Tina D. Purnat (purnatt@ohsu.edu).
    Last update: July 25, 2004.
    The Lutsenko Laboratory, Department of Biochemistry and Molecular Biology, MRB 624, Mail Code L224,
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    This material is based upon work supported by the National Science Foundation
    under grant number MCB-0110057. Any opinions, findings, and conclusions or recommendations
    expressed in this material are those of the author(s) and do not necessarily reflect the views of the National Science Foundation.