LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000331)
Patient ID AKU_DB_168
Disease AKU
Reference Nemethova et al. (2016), Italy:Roma
Remarks Homozygot
# Reported 1
Geographic origin Italy
Patient/Affected_per_Family 1
Families Patients 1
Submitter Gianfranco Biolcati

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00151
Exon 10
DNA change c.742A>G
RNA change r.(?)
Protein p.(Lys248Glu)
Original description K248E
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference Nemethova et al. (2016)
Mutation HOT-SPOT -
Allele code AKU_DB_168b
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 #2 AKU_00151 10 c.742A>G r.(?) p.(Lys248Glu) K248E missense Protomer destabilisation Nemethova et al. (2016) - AKU_DB_168b substitution - - DNA SEQ exon
+/+? Parent #1 AKU_00151 10 c.742A>G r.(?) p.(Lys248Glu) K248E missense Protomer destabilisation Nemethova et al. (2016) - AKU_DB_168a substitution - - DNA SEQ exon