LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000299)
Patient ID AKU_DB_129
Disease AKU
Reference Zatkova et al. (2012), 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 #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00066
Exon 09
DNA change c.649G>T
RNA change r.(?)
Protein p.(Gly217Trp)
Original description G217W
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation, Hexamer disruption
Reference Vilboux et al. (2009)
Mutation HOT-SPOT -
Allele code AKU_DB_129b
Type deletion
Re-site (-)MfeI
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_00013 03 c.175delA r.(?) p.(Ser59Alafs*52) S59fs (R58fs) frameshift - de Bernabe et al. (1999b) - AKU_DB_129a deletion - - DNA SEQ exon
+/+ Parent #2 AKU_00066 09 c.649G>T r.(?) p.(Gly217Trp) G217W missense Protomer destabilisation, Hexamer disruption Vilboux et al. (2009) - AKU_DB_129b deletion (-)MfeI - DNA SEQ exon