LOVD - Variant listings for HGD

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Patient data (#0000206)
Patient ID AKU_VIL_53
Disease AKU
Reference Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin USA
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00086
Exon 12
DNA change c.962G>A (C?)
RNA change r.(?)
Protein p.(Arg321Pro)? (p.(Arg321Gln))
Original description R321P? (R321Q)
Variant remarks missense; published nt change is inconsistent with gene sequence
Predicted Mutation Effect** Protomer destabilisation
Reference Vilboux et al. (2009)
Mutation HOT-SPOT CpG
Allele code AKU_VIL_53b
Type substitution
Re-site (-)TaqI ?
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_00050 08 c.481G>A r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_VIL_53a substitution (-)BslI - DNA SEQ exon
+/+? Parent #2 AKU_00086 12 c.962G>A (C?) r.(?) p.(Arg321Pro)? (p.(Arg321Gln)) R321P? (R321Q) missense; published nt change is inconsistent with gene sequence Protomer destabilisation Vilboux et al. (2009) CpG AKU_VIL_53b substitution (-)TaqI ? - DNA SEQ exon