LOVD - Variant listings for HGD

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Patient data (#0000687)
Patient ID AKU_DB_387
Disease AKU
Reference Danda et al. (2020), India:Vellore
Remarks Compound heterozygous
# Reported 1
Geographic origin India
Patient/Affected_per_Family 1
Families Patients 1
Submitter Sumita Danda

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
DB-ID AKU_00019
Exon 04
DNA change c.185A>G
RNA change r.(?)
Protein p.(Tyr62Cys)
Original description Y62C
Links -
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation, Hexamer disruption
Reference de Bernabe et al. (1999a)
Mutation HOT-SPOT -
Allele code AKU_DB_387b
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
Links 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_00019 04 c.185A>G r.(?) p.(Tyr62Cys) Y62C - missense Protomer destabilisation, Hexamer disruption de Bernabe et al. (1999a) - AKU_DB_387b substitution - - DNA SEQ exon
+/+? Parent #1 AKU_00031 06 c.365C>T r.(?) p.(Ala122Val) A122V rs544956641 missense Hexamer disruption Phornphutkul et al. (2002) - AKU_DB_387a substitution (-)AluI, BpmI - DNA SEQ exon