Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in BSCL2

Mutations in BSCL2 can also cause Berardinelli-Seip congenital lypodystrophy-2 OMIM 269700

Name c.263A>G
Alias Asn88Ser
Description Point mutation in coding region causing an amino acid substitution
Codon Change From AAT to AGT
Phenotype dHMN / Silver syndrome (SPG17)
htz/hmz htz
Family History AD

Windpassinger et al., 2004
van de Warrenburg et al., 2006
Bienfait et al., 2007
Rohkamm et al., 2007
References

Genomic cDNA Protein
Observed c.263A>G
Deduced c.263A>G N88S
Region EX3 CDS N-glycosylation site
Date Added: 25-Feb-04 ID: 380

Name c.269C>T
Alias Ser90Leu
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TCG to TTG
Phenotype dHMN / Silver syndrome (SPG17)
htz/hmz htz
Family History AD

Windpassinger et al., 2004
Cho et al., 2007
Rohkamm et al., 2007
References

Genomic cDNA Protein
Observed c.269C>T
Deduced c.269C>T S90L
Region EX3 CDS N-glycosylation site
Date Added: 25-Feb-04 ID: 381



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