LOVD - Variant listings for HGD

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Patient data (#0000236)
Patient ID AKU_VIL_9
Disease AKU
Reference Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava
Remarks Homozygot
# Reported 1
Geographic origin USA
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00008
Exon 03
DNA change c.125A>C
RNA change r.(?)
Protein p.(Glu42Ala)
Original description E42A
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation, Hexamer disruption
Reference de Bernabe et al. (1998)
Mutation HOT-SPOT -
Allele code AKU_VIL_9b
Type substitution
Re-site (+)HhaI, FspI
Frequency -
Template DNA
Technique SEQ
Location exon

2 entries in HGD

Path.
Allele Descending
Ascending
DB-ID Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Original description Descending
Ascending
Variant remarks Descending
Ascending
Predicted Mutation Effect** Descending
Ascending
Reference Descending
Ascending
Mutation HOT-SPOT Descending
Ascending
Allele code Descending
Ascending
Type Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
Template Descending
Ascending
Technique Descending
Ascending
Location Descending
Ascending
+/+ Parent #1 AKU_00008 03 c.125A>C r.(?) p.(Glu42Ala) E42A missense Protomer destabilisation, Hexamer disruption de Bernabe et al. (1998) - AKU_VIL_9b substitution (+)HhaI, FspI - DNA SEQ exon
+/+ Parent #2 AKU_00008 03 c.125A>C r.(?) p.(Glu42Ala) E42A missense Protomer destabilisation, Hexamer disruption de Bernabe et al. (1998) - AKU_VIL_9a substitution (+)HhaI, FspI - DNA SEQ exon