LOVD - Variant listings for HGD

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Patient data (#0000590)
Patient ID AKU_DB_333
Disease AKU
Reference submitted, Russia:Moscow
Remarks Compound heterozygous
# Reported 1
Geographic origin Russia
Patient/Affected_per_Family 1
Families Patients 1
Submitter Alexander Kuzin

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
DB-ID AKU_00231
Exon 08
DNA change c.536T>G
RNA change r.(?)
Protein p.(Ile179Ser)
Original description I179S
Links rs1031569954
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference submitted, Bychkov et al. (2021)
Mutation HOT-SPOT -
Allele code AKU_DB_333b
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 #1 AKU_00050 08 c.481G>A r.(?) p.(Gly161Arg) G161R rs28941783 missense Protomer destabilisation Gehrig et al. (1997) CCC triplet AKU_DB_333a substitution (-)BslI - DNA SEQ exon
+/? Parent #2 AKU_00231 08 c.536T>G r.(?) p.(Ile179Ser) I179S rs1031569954 missense Protomer destabilisation submitted, Bychkov et al. (2021) - AKU_DB_333b substitution ? - DNA SEQ exon