LOVD - Variant listings for HGD

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Patient data (#0000321)
Patient ID AKU_DB_148
Disease AKU
Reference Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava
Remarks Compound heterozygous
# Reported 1
Geographic origin Brasil
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_00149
Exon 09
DNA change c.557T>A
RNA change r.(?)
Protein p.(Met186Lys)
Original description M186K
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation, Hexamer disruption
Reference Nemethova et al. (2016)
Mutation HOT-SPOT -
Allele code AKU_DB_148b
Type substitution
Re-site (-)BsmI
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_00149 09 c.557T>A r.(?) p.(Met186Lys) M186K missense Protomer destabilisation, Hexamer disruption Nemethova et al. (2016) - AKU_DB_148b substitution (-)BsmI - DNA SEQ exon
+/+? Parent #1 AKU_00079 11 c.808G>A r.(?) p.(Gly270Arg) G270R missense Protomer destabilisation, Hexamer disruption Muller et al. (1999) CCC triplet, CpG AKU_DB_148a substitution (+)EcoNI - DNA SEQ exon