LOVD - Variant listings for HGD

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Patient data (#0000504)
Patient ID AKU_TR2_0122
Disease AKU
Reference Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Spain
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00020
Exon 04
DNA change c.217T>C
RNA change r.(?)
Protein p.(Phe73Leu)
Original description F73L
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation, Hexamer disruption
Reference Vilboux et al. (2009)
Mutation HOT-SPOT CCC triplet
Allele code AKU_TR2_0122a
Type substitution
Re-site -
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_00020 04 c.217T>C r.(?) p.(Phe73Leu) F73L missense Protomer destabilisation, Hexamer disruption Vilboux et al. (2009) CCC triplet AKU_TR2_0122a substitution - - DNA SEQ exon
+/+? Parent #2 AKU_00095 13 c.1078G>C r.(?) p.(Gly360Arg) G360R missense Protomer destabilisation Porfirio et al. (2000) CCC triplet AKU_TR2_0122b substitution (-)BstNI, ScrFI - DNA SEQ exon