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 (#0000428)
Patient ID	AKU_DB_237
Disease	AKU
Reference	Ascher et al. (2019), 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 #2
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Probably pathogenic
DB-ID	AKU_00079
Exon	11
DNA change	c.808G>A
RNA change	r.(?)
Protein	p.(Gly270Arg)
Original description	G270R
Links	rs120074174
Variant remarks	missense
Predicted Mutation Effect**	Protomer destabilisation, Hexamer disruption
Reference	Muller et al. (1999)
Mutation HOT-SPOT	CCC triplet, CpG
Allele code	AKU_DB_237a
Type	substitution
Re-site	(+)EcoNI
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_00042

c.457dupG

r.(?)

p.(Asp153Glyfs*26)

D153fs (G152fs)

rs397515346

frameshift

Gehrig et al. (1997)

CCC triplet

AKU_DB_237a

insertion

DNA

SEQ

exon

+/+?

Parent #2

AKU_00079

c.808G>A

r.(?)

p.(Gly270Arg)

G270R

rs120074174

missense

Protomer destabilisation, Hexamer disruption

Muller et al. (1999)

CCC triplet, CpG

AKU_DB_237a

substitution

(+)EcoNI

DNA

SEQ

exon

HGD mutation database

homogentisate 1,2-dioxygenase (HGD)