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 (#0000029)
Patient ID	AKU_DB_19
Disease	AKU
Reference	Rodriguez et al. (2000), Slovakia (Slovak Republic):Bratislava
Remarks	Compound heterozygous
# Reported	1
Geographic origin	Switzerland
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_00085
Exon	12
DNA change	c.961C>T
RNA change	r.(?)
Protein	p.(Arg321*)
Original description	R321*
Links	-
Variant remarks	nonsense
Predicted Mutation Effect**	-
Reference	Rodriguez et al. (2000)
Mutation HOT-SPOT	CpG
Allele code	AKU_DB_19b
Type	substitution
Re-site	(-)TaqI
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_00023

c.289T>G

r.(?)

p.(Trp97Gly)

W97G

missense

Protomer destabilisation

de Bernabe et al. (1998)

AKU_DB_19a

substitution

(+)MnlI

DNA

SEQ

exon

+/+

Parent #1

AKU_00085

c.961C>T

r.(?)

p.(Arg321*)

R321*

nonsense

Rodriguez et al. (2000)

CpG

AKU_DB_19b

substitution

(-)TaqI

DNA

SEQ

exon

HGD mutation database

homogentisate 1,2-dioxygenase (HGD)