LOVD - Variant listings for HGD

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Patient data (#0000615)
Patient ID AKU_DB_358
Disease AKU
Reference Akbaba et al. 2020, Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Turkey
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_00088
Exon 12
DNA change c.990G>T
RNA change r.(?)
Protein p.(Arg330Ser)
Original description R330S
Links -
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference de Bernabe et al. (1999b)
Mutation HOT-SPOT -
Allele code AKU_DB_358b
Type substitution
Re-site (-)StuI, HaeIII; (+)AhdI
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
Links 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_00013 03 c.175delA r.(?) p.(Ser59Alafs*52) S59fs (R58fs) rs1210546039 frameshift - de Bernabe et al. (1999b) - AKU_DB_358a deletion - - DNA SEQ exon
+/+ Parent #2 AKU_00088 12 c.990G>T r.(?) p.(Arg330Ser) R330S - missense Protomer destabilisation de Bernabe et al. (1999b) - AKU_DB_358b substitution (-)StuI, HaeIII; (+)AhdI - DNA SEQ exon