LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000395)
Patient ID AKU_DB_222
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_00146
Exon 06
DNA change c.343G>C
RNA change r.(?)
Protein p.(Gly115Arg)
Original description G115R
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference Zatkova et al. (2012)
Mutation HOT-SPOT -
Allele code AKU_DB_222b
Type substitution
Re-site (+)PleI, HinfI
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_00146 06 c.343G>C r.(?) p.(Gly115Arg) G115R missense Protomer destabilisation Zatkova et al. (2012) - AKU_DB_222b substitution (+)PleI, HinfI - DNA SEQ exon
+/+ Parent #2 AKU_00097 13 c.1102A>G r.(?) p.(Met368Val) M368V missense Hexamer disruption de Bernabe et al. (1998) - AKU_DB_222a substitution (+)BtsIMutI, HpyCH4III, Tsp45I, TspRI - DNA SEQ exon