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 (#0000167)
Patient ID	AKU_VIL_14
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 #1
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Probably pathogenic
DB-ID	AKU_00102
Exon	14
DNA change	c.1201G>C
RNA change	r.(?)
Protein	p.(Glu401Gln)
Original description	E401Q
Links	rs767159114
Variant remarks	missense
Predicted Mutation Effect**	Active site disruption, Hexamer disruption
Reference	Mannoni et al. (2004)
Mutation HOT-SPOT	-
Allele code	AKU_VIL_14b
Type	substitution
Re-site	(-)TfiI ?
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_00090

12i

c.1007-2A>T

r.(spl?)

p.(Arg336Serfs*5)

ivs12-2A>T

rs1261269370

aberrant splicing (AS)/exon skipping/frameshift?

Vilboux et al. (2009)

CCC triplet

AKU_VIL_14a

substitution

DNA

SEQ

intron

+/+?

Parent #1

AKU_00102

c.1201G>C

r.(?)

p.(Glu401Gln)

E401Q

rs767159114

missense

Active site disruption, Hexamer disruption

Mannoni et al. (2004)

AKU_VIL_14b

substitution

(-)TfiI ?

DNA

SEQ

exon

HGD mutation database

homogentisate 1,2-dioxygenase (HGD)