Report for: Data built from an AQL search

 
8 rows returned
Mutation Text txt
A108P_human-SPG21 p.A108P p.Ala108Pro c.447G>A. Two Japanese brothers with autosomal recessive SPG21. The patients had onset of gait disturbances in their fifties and sixties, much later than that reported by Cross and McKusick (1967) rs587777315 Natural mutant
DelEx3Ex7_human-SPG21 homozygous deletion in SPG21 from exon 3 through exon 7, 37-year old chinese patient Natural mutant
F40EfsX27_human-SPG21 p.F40EfsX27 p.Phe40GlufsTer27 homozygous single base deletion c.118delC. first Italian family with SPG21 Cognitive decline prevailing on spastic paraparesis component Natural mutant
I163X_human-SPG21 c.487delA; p.I163X One patient from a family which originated from Tyrol homozygous mutation in exon 6 of the ACP33 gene, leading to a premature stop codon Natural mutant
R40X_human-SPG21 c.118C>T; p.R40X Huomozygous in two patients originated from Bavaria, Germany Natural mutant
T201NfsX11_human-SPG21 P. T201NfsX11 Thr201AsnfsTer11 c.601insA Maspardin-ACP33-SPG21 is mutated in Mast syndrome (Cross and McKusick 1967, Simpson et al 2003); In an Ohio Amish isolate, Cross and McKusick (1967) found 20 cases of a recessively inherited form of presenile dementia, which they termed Mast syndrome rs387906275 Natural mutant
V52fs_human-SPG21 c.153delT; p.Val52fs) causes a frameshift compound. Two siblings were affected in a family originated from Upper Austria. heterozygous mutations in exon 3 with c.118C>T; p.R40X Natural mutant
S109A_human-SPG21 P.S109A Ser109Ala completely abolished detectable interaction with CD4 Site directed mutagenesis

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Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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