LOVD - Variant listings for HGD

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Patient data (#0000692)
Patient ID AKU_DB_392
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 Probably pathogenic
DB-ID AKU_00079
Exon 11
DNA change c.808G>A
RNA change r.(?)
Protein p.(Gly270Arg)
Original description G270R
Links rs120074174
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation, Hexamer disruption
Reference Muller et al. (1999)
Mutation HOT-SPOT CCC triplet, CpG
Allele code bAKU_DB_392a
Type substitution
Re-site (+)EcoNI
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 #1 AKU_00026 06 c.347T>C r.(?) p.(Leu116Pro) L116P rs569846003 missense Protomer destabilisation Zatkova et al. (2012) - AKU_DB_392a substitution (+)FauI, AciI - DNA SEQ exon
+/+? Parent #2 AKU_00079 11 c.808G>A r.(?) p.(Gly270Arg) G270R rs120074174 missense Protomer destabilisation, Hexamer disruption Muller et al. (1999) CCC triplet, CpG bAKU_DB_392a substitution (+)EcoNI - DNA SEQ exon