LOVD - Variant listings for HGD

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Patient data (#0000239)
Patient ID AKU_DB_116
Disease AKU
Reference Gucev et al. (2011), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Macedonia
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00048
Exon 08
DNA change c.473C>T
RNA change r.(?)
Protein p.(Pro158Leu)
Original description P158L
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference Vilboux et al. (2009)
Mutation HOT-SPOT CpG
Allele code AKU_DB_116a
Type substitution
Re-site (+)PstI, SfcI; (-)BslI, AciI
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_00048 08 c.473C>T r.(?) p.(Pro158Leu) P158L missense Protomer destabilisation Vilboux et al. (2009) CpG AKU_DB_116a substitution (+)PstI, SfcI; (-)BslI, AciI - DNA SEQ exon
+/+? Parent #1 AKU_00105 11 c.821C>T r.(?) p.(Pro274Leu) P274L missense Protomer destabilisation Gucev et al. (2011) CCC triplet AKU_DB_116b substitution - - DNA SEQ exon