LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000295)
Patient ID AKU_DB_125
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 Probably pathogenic
DB-ID AKU_00148
Exon 13
DNA change c.1120G>C
RNA change r.(?)
Protein p.(Asp374His)
Original description D374H
Variant remarks missense
Predicted Mutation Effect** Active site disruption
Reference Zatkova et al. (2012)
Mutation HOT-SPOT -
Allele code AKU_DB_125b
Type substitution
Re-site (-)SfaNI
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_00079 11 c.808G>A r.(?) p.(Gly270Arg) G270R missense Protomer destabilisation, Hexamer disruption Muller et al. (1999) CCC triplet, CpG AKU_DB_125a substitution (+)EcoNI - DNA SEQ exon
+/+? Parent #2 AKU_00148 13 c.1120G>C r.(?) p.(Asp374His) D374H missense Active site disruption Zatkova et al. (2012) - AKU_DB_125b substitution (-)SfaNI - DNA SEQ exon