LOVD - Variant listings for HGD

About this overview [Show]

Patient data (#0000474)
Patient ID AKU_DB_270
Disease AKU
Reference submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool
Remarks Compound heterozygous
# Reported 1
Geographic origin United Kingdom
Patient/Affected_per_Family 1
Families Patients 1
Submitter Jeannette Usher

Variant data
Allele Parent #2
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
DB-ID AKU_00026
Exon 06
DNA change c.347T>C
RNA change r.(?)
Protein p.(Leu116Pro)
Original description L116P
Links rs569846003
Variant remarks missense
Predicted Mutation Effect** Protomer destabilisation
Reference Zatkova et al. (2012)
Mutation HOT-SPOT -
Allele code AKU_DB_270b
Type substitution
Re-site (+)FauI, AciI
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_00026 06 c.347T>C r.(?) p.(Leu116Pro) L116P rs569846003 missense Protomer destabilisation Zatkova et al. (2012) - AKU_DB_270b substitution (+)FauI, AciI - DNA SEQ exon
+/+? Parent #1 AKU_00170 10 c.674G>C r.(?) p.(Arg225Pro) R225P rs562853291 missense Hexamer disruption Usher et al. (2015) CpG AKU_DB_270a substitution (+)LpnPI;(-)BssSI - DNA SEQ exon