LOVD - Variant listings for HGD

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Patient data (#0000306)
Patient ID AKU_DB_136
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 #1
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00071
Exon 10
DNA change c.674G>A
RNA change r.(?)
Protein p.(Arg225His)
Original description R225H
Variant remarks missense
Predicted Mutation Effect** Hexamer disruption
Reference de Bernabe et al. (1998)
Mutation HOT-SPOT CpG
Allele code AKU_DB_136b
Type substitution
Re-site (+)NlaIII; (-)BssSI
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 #2 AKU_00050 08 c.481G>A r.(?) p.(Gly161Arg) G161R missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_136a substitution (-)BslI - DNA SEQ exon
+/+ Parent #1 AKU_00071 10 c.674G>A r.(?) p.(Arg225His) R225H missense Hexamer disruption de Bernabe et al. (1998) CpG AKU_DB_136b substitution (+)NlaIII; (-)BssSI - DNA SEQ exon