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proteintext
http://purl.uniprot.org/uniprot/P50993In FHM2; loss of function.
http://purl.uniprot.org/uniprot/P41181In 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.
http://purl.uniprot.org/uniprot/Q8N100In 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.
http://purl.uniprot.org/uniprot/Q96F25In CMS15; results in a severe reduction in protein expression; loss of function mutation.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis; unknown pathological significance.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q96C12In AIMAH2; loss of function in promoting apoptosis.
http://purl.uniprot.org/uniprot/Q53EZ4In MARCH; loss of protein localization to midbody ring; loss of function; fails to rescue craniofacial development when expressed in a zebrafish heterologous system.
http://purl.uniprot.org/uniprot/Q5IJ48In FSGS9; loss of function mutation.
http://purl.uniprot.org/uniprot/Q5IJ48In FSGS9; moderate loss of function mutation.
http://purl.uniprot.org/uniprot/Q07973In HCINF1; complete loss of function.
http://purl.uniprot.org/uniprot/Q07973In HCINF1; complete loss of function.
http://purl.uniprot.org/uniprot/Q07973In HCINF1; complete loss of function.
http://purl.uniprot.org/uniprot/Q07973In HCINF1; complete loss of function.
http://purl.uniprot.org/uniprot/P51788In 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.
http://purl.uniprot.org/uniprot/P51788In 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.
http://purl.uniprot.org/uniprot/P51530In PEOA6; the mutant protein has decreased nuclease activity (30% of wild-type) and enhanced helicase activity; consistent with a loss of function mutation.