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 (#0000301)
Patient ID	AKU_DB_131
Disease	AKU
Reference	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool
Remarks	Compound heterozygous
# Reported	1
Geographic origin	United Kingdom
Patient/Affected_per_Family	1
Families Patients	1
Submitter	Jeannette Usher

Variant data
Allele	Parent #1
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Pathogenic
DB-ID	AKU_00083
Exon	12
DNA change	c.899T>G
RNA change	r.(?)
Protein	p.(Val300Gly)
Original description	V300G
Links	rs120074170
Variant remarks	missense
Predicted Mutation Effect**	Protomer destabilisation
Reference	Fernandez Canon et al. (1996)
Mutation HOT-SPOT	-
Allele code	AKU_DB_131a
Type	substitution
Re-site	-
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_00190

09i

c.649+39T>G

r.(?)

p.(?)

ivs9+39T>G

aberrant splicing (AS)

Usher et al. (2015)

AKU_DB_131b

substitution

DNA

SEQ

intron

+/+

Parent #1

AKU_00083

c.899T>G

r.(?)

p.(Val300Gly)

V300G

rs120074170

missense

Protomer destabilisation

Fernandez Canon et al. (1996)

AKU_DB_131a

substitution

DNA

SEQ

exon

HGD mutation database

homogentisate 1,2-dioxygenase (HGD)