LOVD - Variant listings for HGD

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Patient data (#0000703)
Patient ID AKU_DB_403
Disease AKU
Reference Danda et al. (2020), India:Vellore
Remarks Homozygot
# 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_00149
Exon 09
DNA change c.557T>A
RNA change r.(?)
Protein p.(Met186Lys)
Original description M186K
Links -
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation, Hexamer disruption
Reference Nemethova et al. (2016)
Mutation HOT-SPOT -
Allele code AKU_DB_403a
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
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_00149 09 c.557T>A r.(?) p.(Met186Lys) M186K - missense Protomer destabilisation, Hexamer disruption Nemethova et al. (2016) - AKU_DB_403a substitution (-)BsmI - DNA SEQ exon
+/+ Parent #2 AKU_00149 09 c.557T>A r.(?) p.(Met186Lys) M186K - missense Protomer destabilisation, Hexamer disruption Nemethova et al. (2016) - AKU_DB_403b substitution (-)BsmI - DNA SEQ exon