LOVD - Variant listings for HGD

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Patient data (#0000564)
Patient ID AKU_DB_307
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_00227
Exon 03
DNA change c.174A>T
RNA change r.(?)
Protein p.(Arg58Ser)
Original description R58S
Links -
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference submitted
Mutation HOT-SPOT -
Allele code AKU_DB_307b
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_00227 03 c.174A>T r.(?) p.(Arg58Ser) R58S - missense Protomer destabilisation submitted - AKU_DB_307b substitution ? - DNA SEQ exon
+/+? Parent #1 AKU_00079 11 c.808G>A r.(?) p.(Gly270Arg) G270R rs120074174 missense Protomer destabilisation, Hexamer disruption Muller et al. (1999) CCC triplet, CpG AKU_DB_307a substitution (+)EcoNI - DNA SEQ exon