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 (#0000054)
Patient ID	AKU_DB_41
Disease	AKU
Reference	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava
Remarks	Compound heterozygous
# Reported	1
Geographic origin	Slovakia
Patient/Affected_per_Family	1
Families Patients	1
Submitter	Andrea Zatkova

Variant data
Allele	Parent #1
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Pathogenic
DB-ID	AKU_00050
Exon	08
DNA change	c.481G>A
RNA change	r.(?)
Protein	p.(Gly161Arg)
Original description	G161R
Links	rs28941783
Variant remarks	missense
Predicted Mutation Effect**	Protomer destabilisation
Reference	Gehrig et al. (1997)
Mutation HOT-SPOT	CCC triplet
Allele code	AKU_DB_41b
Type	substitution
Re-site	(-)BslI
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 #2

AKU_00025

05i

c.342+1G>A

r.(spl?)

p.(Leu95_Ser114del)

ivs5+1G>A

rs397515518

aberrant splicing (DS)/exon skipping/in frame deletion?

Muller et al. (1999)

c.342+1G

AKU_DB_41a

substitution

DNA

SEQ

intron

+/+

Parent #1

AKU_00050

c.481G>A

r.(?)

p.(Gly161Arg)

G161R

rs28941783

missense

Protomer destabilisation

Gehrig et al. (1997)

CCC triplet

AKU_DB_41b

substitution

(-)BslI

DNA

SEQ

exon

HGD mutation database

homogentisate 1,2-dioxygenase (HGD)