LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000290)
Patient ID AKU_DB_121
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_00143
Exon 13
DNA change c.1081G>A
RNA change r.(?)
Protein p.(Gly361Arg)
Original description G361R
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference Zatkova et al. (2012)
Mutation HOT-SPOT CCC triplet
Allele code AKU_DB_121b
Type substitution
Re-site -
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_00142 11 c.828G>C r.(?) p.(Lys276Asn) K276N missense Protomer destabilisation Zatkova et al. (2012) - AKU_DB_121a substitution (-)RsaI - DNA SEQ exon
+/+? Parent #2 AKU_00143 13 c.1081G>A r.(?) p.(Gly361Arg) G361R missense Protomer destabilisation Zatkova et al. (2012) CCC triplet AKU_DB_121b substitution - - DNA SEQ exon