proteintext
http://purl.uniprot.org/uniprot/Q6ZSZ5"In RP78; decreased function in positive regulation of Rho protein signal transduction; loss of function in regulation of actomyosin structure organization."xsd:string
http://purl.uniprot.org/uniprot/Q8N100"In PHPVAR; loss of function; polypeptide is stable, but does not bind DNA or activate transcription; does not restore retinal ganglion cell development in retinal explants from a mouse Atoh7 null mutant."xsd:string
http://purl.uniprot.org/uniprot/Q8TD30"In MRT49; loss of function mutation."xsd:string
http://purl.uniprot.org/uniprot/Q96F25"In CMS15; results in a severe reduction in protein expression; loss of function mutation."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH; de novo mutation; loss of function in transactivation of transcription; reduces the interaction between isoform 2 and isoform 3; disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH; de novo mutation; loss of function in transactivation of transcription; reduces the interaction between isoform 2 and isoform 3; disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH, de novo mutation, loss of function transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH; de novo mutation; loss of function in transactivation of transcription; reduces the interaction between isoform 2 and isoform 3; disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3."xsd:string
http://purl.uniprot.org/uniprot/Q9H165"In IDPFH, de novo mutation, loss of function in transactivation of transcription, reduces the interaction between isoform 2 and isoform 3, disrupts the nuclear paraspeckle distribution of isoform 2 and isoform 3."xsd:string
http://purl.uniprot.org/uniprot/Q53EZ4"In MARCH; loss of protein localization to midbody ring; loss of function; fails to rescue craniofacial development when expressed in a zebrafish heterologous system."xsd:string
http://purl.uniprot.org/uniprot/P51795"In LMWPHN; causes retention in the endoplasmic reticulum and alters protein stability; total loss of function."xsd:string
http://purl.uniprot.org/uniprot/P51795"In NPHL2; causes retention in the endoplasmic reticulum and alters protein stability; total loss of function."xsd:string
http://purl.uniprot.org/uniprot/P51795"In NPHL2; causes retention in the endoplasmic reticulum and alters protein stability; total loss of function."xsd:string
http://purl.uniprot.org/uniprot/P51795"In NPHL2; abolishes the chloride currents; total loss of function."xsd:string
http://purl.uniprot.org/uniprot/P48165"In CTRCT1; incomplete penetrance; results in loss of function."xsd:string
http://purl.uniprot.org/uniprot/P51530"In PEOA6; the mutant protein has a complete loss of nuclease activity and severely impaired helicase activity; consistent with a loss of function mutation."xsd:string
http://purl.uniprot.org/uniprot/P51530"In PEOA6; the mutant protein has significantly reduced nuclease and helicase activity; consistent with a loss of function mutation."xsd:string
http://purl.uniprot.org/uniprot/P51530"In PEOA6; the mutant protein has decreased nuclease activity (30% of wild-type) and enhanced helicase activity; consistent with a loss of function mutation."xsd:string
http://purl.uniprot.org/uniprot/P51788"In LKPAT; loss of function mutation; the mutant protein is restricted to the endoplasmic reticulum and hardly reached the plasma membrane; lower amounts of the mutant protein compared to wild-type."xsd:string
http://purl.uniprot.org/uniprot/P51788"In LKPAT; loss of function mutation; the mutant protein is restricted to the endoplasmic reticulum and hardly reaches the plasma membrane; lower amounts of the mutant protein compared to wild-type."xsd:string
http://purl.uniprot.org/uniprot/Q07973"In HCINF1; complete loss of function."xsd:string