LOVD - Variant listings for HGD

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Patient data (#0000381)
Patient ID AKU_DB_209
Disease AKU
Reference Usher et al. (2015), United Kingdom (Great Britain):Liverpool
Remarks Compound heterozygous
# Reported 1
Geographic origin United Kingdom
Patient/Affected_per_Family 1
Families Patients 1
Submitter Jeannette Usher

Variant data
Allele Parent #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00032
Exon 06
DNA change c.367G>A
RNA change r.(?)
Protein p.(Gly123Arg)
Original description G123R
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation, Hexamer disruption
Reference Vilboux et al. (2009)
Mutation HOT-SPOT -
Allele code AKU_DB_209a
Type substitution
Re-site (-)BpmI
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 #1 AKU_00032 06 c.367G>A r.(?) p.(Gly123Arg) G123R missense Protomer destabilisation, Hexamer disruption Vilboux et al. (2009) - AKU_DB_209a substitution (-)BpmI - DNA SEQ exon
+/+? Parent #2 AKU_00093 13 c.1075C>T r.(?) p.(Pro359Leu) P359L missense Active site disruption Vilboux et al. (2009) - AKU_DB_209b substitution (-)BstNI, ScrFI - DNA SEQ exon