Variants - HGD mutation database - Leiden Open Variation Database

About this overview [Show]
This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant.

Patient data (#0000226)
Patient ID	AKU_VIL_77
Disease	AKU
Reference	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava
Remarks	Compound heterozygous
# Reported	1
Geographic origin	USA
Patient/Affected_per_Family	1
Families Patients	1
Submitter	Andrea Zatkova

Variant data
Allele	Parent #2
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Probably pathogenic
DB-ID	AKU_00095
Exon	13
DNA change	c.1078G>C
RNA change	r.(?)
Protein	p.(Gly360Arg)
Original description	G360R
Links	rs368717991
Variant remarks	missense
Predicted Mutation Effect**	Protomer destabilisation
Reference	Porfirio et al. (2000)
Mutation HOT-SPOT	CCC triplet
Allele code	AKU_VIL_77b
Type	substitution
Re-site	(-)BstNI, ScrFI
Frequency	-
Template	DNA
Technique	SEQ
Location	exon

2 entries in HGD

Path.

Allele

DB-ID

Exon

DNA change

RNA change

Protein

Original description

Links

Variant remarks

Predicted Mutation Effect**

Reference

Mutation HOT-SPOT

Allele code

Type

Re-site

Frequency

Template

Technique

Location

+/+?

Parent #1

AKU_00020

c.217T>C

r.(?)

p.(Phe73Leu)

F73L

missense

Protomer destabilisation, Hexamer disruption

Vilboux et al. (2009)

CCC triplet

AKU_VIL_77a

substitution

DNA

SEQ

exon

+/+?

Parent #2

AKU_00095

c.1078G>C

r.(?)

p.(Gly360Arg)

G360R

rs368717991

missense

Protomer destabilisation

Porfirio et al. (2000)

CCC triplet

AKU_VIL_77b

substitution

(-)BstNI, ScrFI

DNA

SEQ

exon

HGD mutation database

homogentisate 1,2-dioxygenase (HGD)