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Results 1 - 10 of 18 > >>
EC Number
Amino acid exchange
Commentary
Reference
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Zmste24-deficient mice, Zmpste24 deficiency elicits a stress signaling pathway that is evidenced by a marked upregulation of p53 target genes, accompanied by a senescence phenotype at the cellular level and accelerated ageing at the organismal level
L362F
the mutation is associated with restrictive dermopathy
W302X
the mutation is associated with restrictive dermopathy
L647R
prelaminaAct mutant, cannot be cleaved by Zmpste24
T159/L209del
no residual activity
more
neonates with restrictive dermopathy have homozygous or compound heterozygous null mutations in the ZMPSTE24 gene
more
identification of compound heterozygous frameshifting mutations in exon 1, c.50delA, and exon 5, c.584_585delAT of the ZMPSTE24 gene in two brothers affected with restrictive dermopathy, who died in the neonatal period. Both deletions are frameshifting and are predicted to cause the appearance of premature termination codons
E298A
ability to complement the mating-defective phenotype of ste24-1 is lost
E298D
ability to complement the mating-defective phenotype of ste24-1 is lost
H297A
ability to complement the mating-defective phenotype of ste24-1 is lost
Results 1 - 10 of 18 > >>