LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000401)
Patient ID AKU_DB_227
Disease AKU
Reference Usher et al. (2015), United Kingdom (Great Britain):Liverpool
Remarks Compound heterozygous
# Reported 1
Geographic origin United Kingdom/France
Patient/Affected_per_Family 1
Families Patients 1
Submitter Jeannette Usher

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00095
Exon 13
DNA change c.1078G>C
RNA change r.(?)
Protein p.(Gly360Arg)
Original description G360R
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference Porfirio et al. (2000)
Mutation HOT-SPOT CCC triplet
Allele code AKU_DB_227a
Type substitution
Re-site (-)BstNI, ScrFI
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_00028 06 c.359G>T r.(?) p.(Cys120Phe) C120F missense Protomer destabilisation Vilboux et al. (2009) - AKU_DB_227b substitution - - DNA SEQ exon
+/+? Parent #2 AKU_00095 13 c.1078G>C r.(?) p.(Gly360Arg) G360R missense Protomer destabilisation Porfirio et al. (2000) CCC triplet AKU_DB_227a substitution (-)BstNI, ScrFI - DNA SEQ exon