proteintext
http://purl.uniprot.org/uniprot/P12235"In MTDPS12B; loss of function in ADP transport."xsd:string
http://purl.uniprot.org/uniprot/P12235"In MTDPS12B; loss of function in ADP transport."xsd:string
http://purl.uniprot.org/uniprot/Q13873"In PPH1; complete loss of function."xsd:string
http://purl.uniprot.org/uniprot/O00555"In EA2; loss of function."xsd:string
http://purl.uniprot.org/uniprot/O00555"In SCA6; also found in patients with global developmental delay and congenital ataxia; loss of function observed in the Drosophila homolog."xsd:string
http://purl.uniprot.org/uniprot/Q96C12"In AIMAH2; loss of function in promoting apoptosis."xsd:string
http://purl.uniprot.org/uniprot/Q96C12"In AIMAH2; loss of function in promoting apoptosis."xsd:string
http://purl.uniprot.org/uniprot/Q96C12"In AIMAH2; loss of function in promoting apoptosis; unknown pathological significance."xsd:string
http://purl.uniprot.org/uniprot/Q96C12"In AIMAH2; loss of function in promoting apoptosis."xsd:string
http://purl.uniprot.org/uniprot/Q96C12"In AIMAH2; loss of function in promoting apoptosis."xsd:string
http://purl.uniprot.org/uniprot/Q96C12"In AIMAH2; loss of function in promoting apoptosis."xsd:string
http://purl.uniprot.org/uniprot/Q96C12"In AIMAH2; loss of function in promoting apoptosis."xsd:string
http://purl.uniprot.org/uniprot/Q96C12"In AIMAH2; loss of function in promoting apoptosis."xsd:string
http://purl.uniprot.org/uniprot/Q96C12"In AIMAH2; loss of function in promoting apoptosis."xsd:string
http://purl.uniprot.org/uniprot/Q96C12"In AIMAH2; loss of function in promoting apoptosis."xsd:string
http://purl.uniprot.org/uniprot/Q96C12"In AIMAH2; loss of function in promoting apoptosis."xsd:string
http://purl.uniprot.org/uniprot/P50993"In FHM2; loss of function."xsd:string
http://purl.uniprot.org/uniprot/P50993"In FHM2; loss of function."xsd:string
http://purl.uniprot.org/uniprot/P30049"In MC5DN5; no effect on protein abundance; decreased mitochondrial proton-transporting ATP synthase complex assembly; decreased aerobic respiration in patient cells homozygous for the mutation; partial loss of function confirmed by complementation assays."xsd:string
http://purl.uniprot.org/uniprot/P30049"In MC5DN5; no effect on protein abundance; decreased mitochondrial proton-transporting ATP synthase complex assembly; decreased aerobic respiration in patient cells homozygous for the mutation; partial loss of function confirmed by complementation assays."xsd:string
http://purl.uniprot.org/uniprot/P41181"In ANDI; exerts a dominant-negative effect on wild-type-AQP2 in that it interferes with its trafficking to the apical membrane; is a loss of function instead of a gain of function mutation on dominant nephrogenic diabetes insipidus."xsd:string
http://purl.uniprot.org/uniprot/Q01484"In LQT4; loss of function."xsd:string
http://purl.uniprot.org/uniprot/Q01484"In LQT4; loss of function."xsd:string
http://purl.uniprot.org/uniprot/Q01484"In LQT4; loss of function."xsd:string
http://purl.uniprot.org/uniprot/Q01484"In LQT4; loss of function."xsd:string