LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000498)
Patient ID AKU_TR2_0112
Disease AKU
Reference Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava
Remarks Homozygot
# Reported 1
Geographic origin Italy
Patient/Affected_per_Family 2
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00102
Exon 14
DNA change c.1201G>C
RNA change r.(?)
Protein p.(Glu401Gln)
Original description E401Q
Variant remarks missense
Predicted Mutation Effect** Active site disruption, Hexamer disruption
Reference Mannoni et al. (2004)
Mutation HOT-SPOT -
Allele code AKU_TR2_0112a
Type substitution
Re-site (-)TfiI ?
Frequency -
Template DNA
Technique SEQ
Location exon

3 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 #2 AKU_00102 14 c.1201G>C r.(?) p.(Glu401Gln) E401Q missense Active site disruption, Hexamer disruption Mannoni et al. (2004) - AKU_TR2_0112b substitution (-)TfiI ? - DNA SEQ exon
+/+? Parent #1 AKU_00102 14 c.1201G>C r.(?) p.(Glu401Gln) E401Q missense Active site disruption, Hexamer disruption Mannoni et al. (2004) - AKU_TR2_0112a substitution (-)TfiI ? - DNA SEQ exon
+/+? Both (homozygous) AKU_00102 14 c.1201G>C r.(?) p.(Glu401Gln) E401Q missense Active site disruption, Hexamer disruption Mannoni et al. (2004) - AKU_TR2_0112c substitution (-)TfiI ? - DNA SEQ exon