LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000506)
Patient ID AKU_TR2_0126
Disease AKU
Reference Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Spain
Patient/Affected_per_Family 1
Families Patients 1
Submitter Andrea Zatkova

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00065
Exon 09
DNA change c.647T>C
RNA change r.(?)
Protein p.(Ile216Thr)
Original description I216T
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation, Hexamer disruption
Reference de Bernabe et al. (1998)
Mutation HOT-SPOT -
Allele code AKU_TR2_0126a
Type substitution
Re-site (-)MfeI; (+)BsrI
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_00065 09 c.647T>C r.(?) p.(Ile216Thr) I216T missense Protomer destabilisation, Hexamer disruption de Bernabe et al. (1998) - AKU_TR2_0126a substitution (-)MfeI; (+)BsrI - DNA SEQ exon
+/+? Parent #1 AKU_00170 10 c.674G>C r.(?) p.(Arg225Pro) R225P missense Hexamer disruption Usher et al. (2015) CpG AKU_TR2_0126b substitution (+)LpnPI;(-)BssSI - DNA SEQ exon