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 (#0000379)
Patient ID	AKU_DB_207
Disease	AKU
Reference	Usher et al. (2015), 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 #2
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Probably pathogenic
DB-ID	AKU_00169
Exon	08
DNA change	c.515T>C
RNA change	r.(?)
Protein	p.(Met172Thr)
Original description	M172T
Links	-
Variant remarks	missense
Predicted Mutation Effect**	Protomer destabilisation
Reference	Usher et al. (2015)
Mutation HOT-SPOT	-
Allele code	AKU_DB_207a
Type	substitution
Re-site	(+)HgaI;(-)SfaNI
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_00152

c.158G>A

r.(?)

p.(Arg53Gln)

R53Q

rs200808744

missense

Hexamer disruption

Nemethova et al. (2016); Usher et al. (2015)

CpG

AKU_DB_207a

substitution

(-)BsaJI, BtgI

DNA

SEQ

exon

+/+?

Parent #2

AKU_00169

c.515T>C

r.(?)

p.(Met172Thr)

M172T

missense

Protomer destabilisation

Usher et al. (2015)

AKU_DB_207a

substitution

(+)HgaI;(-)SfaNI

DNA

SEQ

exon

HGD mutation database

homogentisate 1,2-dioxygenase (HGD)