LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000491)
Patient ID AKU_TR2_0307
Disease AKU
Reference Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin France
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00023
Exon 05
DNA change c.289T>G
RNA change r.(?)
Protein p.(Trp97Gly)
Original description W97G
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference de Bernabe et al. (1998)
Mutation HOT-SPOT -
Allele code AKU_TR2_0307b
Type substitution
Re-site (+)MnlI
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 #2 AKU_00023 05 c.289T>G r.(?) p.(Trp97Gly) W97G missense Protomer destabilisation de Bernabe et al. (1998) - AKU_TR2_0307b substitution (+)MnlI - DNA SEQ exon
+/+ Parent #1 AKU_00074 10 c.688C>T r.(?) p.(Pro230Ser) P230S missense Protomer destabilisation Fernandez Canon et al. (1996) CCC triplet AKU_TR2_0307a substitution (+)EcoRV - DNA SEQ exon