View all contents - HGD mutation database - Leiden Open Variation Database

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The variants below are all in the HGD database. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than HGD, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the HGD full legend here.

1497 public entries
entries per page

Path.

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

Patient ID

Disease

Reference

Remarks

# Reported

Geographic origin

Patient/Affected_per_Family

Families Patients


+/+?	AKU_00029	06	c.360T>G + c.360T>G	r.(?)	p.(Cys120Trp)	C120W	rs149165166	missense	Protomer destabilisation	Goicoechea de Jorge et al. (2002)	-	AKU_DB_79b	substitution	-	-	DNA	SEQ	exon	AKU_DB_79	AKU	Goicoechea de Jorge et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Dominican republic	1	1
+/+?	AKU_00029	06	c.360T>G + c.360T>G	r.(?)	p.(Cys120Trp)	C120W	rs149165166	missense	Protomer destabilisation	Goicoechea de Jorge et al. (2002)	-	AKU_DB_80a	substitution	-	-	DNA	SEQ	exon	AKU_DB_80	AKU	Goicoechea de Jorge et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Dominican republic	1	1
+/+?	AKU_00029	06	c.360T>G + c.360T>G	r.(?)	p.(Cys120Trp)	C120W	rs149165166	missense	Protomer destabilisation	Goicoechea de Jorge et al. (2002)	-	AKU_DB_80b	substitution	-	-	DNA	SEQ	exon	AKU_DB_80	AKU	Goicoechea de Jorge et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Dominican republic	1	1
+/+?	AKU_00029	06	c.360T>G + c.360T>G	r.(?)	p.(Cys120Trp)	C120W	rs149165166	missense	Protomer destabilisation	Goicoechea de Jorge et al. (2002)	-	AKU_VIL_48a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_48	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+?	AKU_00029	06	c.360T>G + c.360T>G	r.(?)	p.(Cys120Trp)	C120W	rs149165166	missense	Protomer destabilisation	Goicoechea de Jorge et al. (2002)	-	AKU_VIL_48b	substitution	-	-	DNA	SEQ	exon	AKU_VIL_48	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+?	AKU_00250	06	c.362G>A + c.362G>A	r.(?)	p.(Gly121Glu)	G121E	rs2472716929	missense	?	Danda et al. (2020)	-	AKU_DB_380a	substitution	?	-	DNA	SEQ	exon	AKU_DB_380	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+?	AKU_00250	06	c.362G>A + c.362G>A	r.(?)	p.(Gly121Glu)	G121E	rs2472716929	missense	?	Danda et al. (2020)	-	AKU_DB_380a	substitution	?	-	DNA	SEQ	exon	AKU_DB_380	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+	AKU_00030	06	c.365C>A + c.1102A>G	r.(?)	p.(Ala122Asp)	A122D	rs1576294110	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1999a)	-	AKU_DB_25a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_25	AKU	de Bernabe et al. (1999a), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	The Netherlands	1	1
+/+?	AKU_00031	06	c.365C>T + c.175delA	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_49b	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_49	AKU	Ladjouze-Rezig et al. (2006), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_99a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_99	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India/Canada	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_99b	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_99	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India/Canada	1	1
+/+?	AKU_00031	06	c.365C>T + c.1078G>C	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_VIL_46a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_VIL_46	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA/India	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_VIL_47a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_VIL_47	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA/India	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_VIL_47b	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_VIL_47	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA/India	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_139a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_139	AKU	Zatkova et al. (2012), Jordan:Karak	Homozygot	1	Jordan	6	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_139b	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_139	AKU	Zatkova et al. (2012), Jordan:Karak	Homozygot	1	Jordan	6	1
+/+?	AKU_00031	06	c.365C>T + c.16-1G>A	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_140a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_140	AKU	Zatkova et al. (2012), Jordan:Karak	Compound heterozygous	1	Jordan	2	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_144a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_144	AKU	Nemethova et al. (2016), Jordan:Karak	Homozygot	1	Jordan	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_144b	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_144	AKU	Nemethova et al. (2016), Jordan:Karak	Homozygot	1	Jordan	1	1
+/+?	AKU_00031	06	c.365C>T + c.(?)	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_145a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_145	AKU	Nemethova et al. (2016), Jordan:Karak	Compound heterozygous	1	Jordan	2	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_191a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_191	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India	2	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_191b	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_191	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India	2	1
+/+?	AKU_00031	06	c.365C>T + c.1078G>C	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_TR2_0224b	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_TR2_0224	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_TR2_0245a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_TR2_0245	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Jordan	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_TR2_0245b	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_TR2_0245	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Jordan	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_TR2_0250a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_TR2_0250	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Jordan	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_TR2_0250b	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_TR2_0250	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Jordan	1	1
+/+?	AKU_00031	06	c.365C>T + c.1019G>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_381b	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_381	AKU	Danda et al. (2020), India:Vellore	Compound heterozygous	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.673C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_384a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_384	AKU	Mwafi et al. 2021, Jordan:Al-Karak	Compound heterozygous	1	Jordan	2	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_385a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_385	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_385a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_385	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.550-2A>C	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_386a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_386	AKU	Danda et al. (2020), India:Vellore	Compound heterozygous	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.185A>G	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_387a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_387	AKU	Danda et al. (2020), India:Vellore	Compound heterozygous	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_388a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_388	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_388b	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_388	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.674G>A	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_390a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_390	AKU	Danda et al. (2020), India:Vellore	Compound heterozygous	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_391a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_391	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_391b	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_391	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.175delA	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_393b	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_393	AKU	Danda et al. (2020), India:Vellore	Compound heterozygous	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_395a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_395	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_395b	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_395	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_397a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_397	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_397b	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_397	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.752G>A	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_398a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_398	AKU	Danda et al. (2020), India:Vellore	Compound heterozygous	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_401a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_401	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_401b	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_401	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_402a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_402	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_402b	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_402	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_404a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_404	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_404b	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_404	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_420a	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_420	AKU	submitted, Dr. Nesrin Mwafi, Jordan:Al-Karak	Homozygot	1	Jordan	1	1
+/+?	AKU_00031	06	c.365C>T + c.365C>T	r.(?)	p.(Ala122Val)	A122V	rs544956641	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_DB_420b	substitution	(-)AluI, BpmI	-	DNA	SEQ	exon	AKU_DB_420	AKU	submitted, Dr. Nesrin Mwafi, Jordan:Al-Karak	Homozygot	1	Jordan	1	1
+/+?	AKU_00032	06	c.367G>A + c.367G>A	r.(?)	p.(Gly123Arg)	G123R	rs564979861	missense	Protomer destabilisation, Hexamer disruption	Vilboux et al. (2009)	-	AKU_VIL_87a	substitution	(-)BpmI	-	DNA	SEQ	exon	AKU_VIL_87	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+?	AKU_00032	06	c.367G>A + c.367G>A	r.(?)	p.(Gly123Arg)	G123R	rs564979861	missense	Protomer destabilisation, Hexamer disruption	Vilboux et al. (2009)	-	AKU_VIL_87b	substitution	(-)BpmI	-	DNA	SEQ	exon	AKU_VIL_87	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+?	AKU_00032	06	c.367G>A + c.(?)	r.(?)	p.(Gly123Arg)	G123R	rs564979861	missense	Protomer destabilisation, Hexamer disruption	Vilboux et al. (2009)	-	AKU_DB_132a	substitution	(-)BpmI	-	DNA	SEQ	exon	AKU_DB_132	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00032	06	c.367G>A + c.1075C>T	r.(?)	p.(Gly123Arg)	G123R	rs564979861	missense	Protomer destabilisation, Hexamer disruption	Vilboux et al. (2009)	-	AKU_DB_209a	substitution	(-)BpmI	-	DNA	SEQ	exon	AKU_DB_209	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00032	06	c.367G>A + c.367G>A	r.(?)	p.(Gly123Arg)	G123R	rs564979861	missense	Protomer destabilisation, Hexamer disruption	Vilboux et al. (2009)	-	AKU_DB_274a	substitution	(-)BpmI	-	DNA	SEQ	exon	AKU_DB_274	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+?	AKU_00032	06	c.367G>A + c.367G>A	r.(?)	p.(Gly123Arg)	G123R	rs564979861	missense	Protomer destabilisation, Hexamer disruption	Vilboux et al. (2009)	-	AKU_DB_274b	substitution	(-)BpmI	-	DNA	SEQ	exon	AKU_DB_274	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+?	AKU_00033	06	c.368G>C + c.368G>C	r.(?)	p.(Gly123Ala)	G123A	rs374473331	missense	Protomer destabilisation, Hexamer disruption	Zatkova et al. (2012)	-	AKU_DB_113a	substitution	(-)BpmI; (+)PstI	-	DNA	SEQ	exon	AKU_DB_113	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Algeria	2	1
+/+?	AKU_00033	06	c.368G>C + c.368G>C	r.(?)	p.(Gly123Ala)	G123A	rs374473331	missense	Protomer destabilisation, Hexamer disruption	Zatkova et al. (2012)	-	AKU_DB_113b	substitution	(-)BpmI; (+)PstI	-	DNA	SEQ	exon	AKU_DB_113	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Algeria	2	1
+/+?	AKU_00033	06	c.368G>C + c.368G>C	r.(?)	p.(Gly123Ala)	G123A	rs374473331	missense	Protomer destabilisation, Hexamer disruption	Zatkova et al. (2012)	-	AKU_DB_117a	substitution	(-)BpmI; (+)PstI	-	DNA	SEQ	exon	AKU_DB_117	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Algeria	1	1
+/+?	AKU_00033	06	c.368G>C + c.368G>C	r.(?)	p.(Gly123Ala)	G123A	rs374473331	missense	Protomer destabilisation, Hexamer disruption	Zatkova et al. (2012)	-	AKU_DB_117b	substitution	(-)BpmI; (+)PstI	-	DNA	SEQ	exon	AKU_DB_117	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Algeria	1	1
+/+?	AKU_00033	06	c.368G>C + c.368G>C	r.(?)	p.(Gly123Ala)	G123A	rs374473331	missense	Protomer destabilisation, Hexamer disruption	Zatkova et al. (2012)	-	AKU_DB_118a	substitution	(-)BpmI; (+)PstI	-	DNA	SEQ	exon	AKU_DB_118	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Algeria	1	1
+/+?	AKU_00033	06	c.368G>C + c.368G>C	r.(?)	p.(Gly123Ala)	G123A	rs374473331	missense	Protomer destabilisation, Hexamer disruption	Zatkova et al. (2012)	-	AKU_DB_118b	substitution	(-)BpmI; (+)PstI	-	DNA	SEQ	exon	AKU_DB_118	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Algeria	1	1
+/+?	AKU_00033	06	c.368G>C + c.368G>C	r.(?)	p.(Gly123Ala)	G123A	rs374473331	missense	Protomer destabilisation, Hexamer disruption	Zatkova et al. (2012)	-	AKU_DB_181a	substitution	(-)BpmI; (+)PstI	-	DNA	SEQ	exon	AKU_DB_181	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Algeria	3	1
+/+?	AKU_00033	06	c.368G>C + c.368G>C	r.(?)	p.(Gly123Ala)	G123A	rs374473331	missense	Protomer destabilisation, Hexamer disruption	Zatkova et al. (2012)	-	AKU_DB_181b	substitution	(-)BpmI; (+)PstI	-	DNA	SEQ	exon	AKU_DB_181	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Algeria	3	1
+/+?	AKU_00033	06	c.368G>C + c.368G>C	r.(?)	p.(Gly123Ala)	G123A	rs374473331	missense	Protomer destabilisation, Hexamer disruption	Zatkova et al. (2012)	-	AKU_DB_200a	substitution	(-)BpmI; (+)PstI	-	DNA	SEQ	exon	AKU_DB_200	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Algeria	1	1
+/+?	AKU_00033	06	c.368G>C + c.368G>C	r.(?)	p.(Gly123Ala)	G123A	rs374473331	missense	Protomer destabilisation, Hexamer disruption	Zatkova et al. (2012)	-	AKU_DB_200b	substitution	(-)BpmI; (+)PstI	-	DNA	SEQ	exon	AKU_DB_200	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Algeria	1	1
+/+?	AKU_00033	06	c.368G>C + c.368G>C	r.(?)	p.(Gly123Ala)	G123A	rs374473331	missense	Protomer destabilisation, Hexamer disruption	Zatkova et al. (2012)	-	AKU_TR2_0312a	substitution	(-)BpmI; (+)PstI	-	DNA	SEQ	exon	AKU_TR2_0312	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Morocco	1	1
+/+?	AKU_00033	06	c.368G>C + c.368G>C	r.(?)	p.(Gly123Ala)	G123A	rs374473331	missense	Protomer destabilisation, Hexamer disruption	Zatkova et al. (2012)	-	AKU_TR2_0312b	substitution	(-)BpmI; (+)PstI	-	DNA	SEQ	exon	AKU_TR2_0312	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Morocco	1	1
+/+?	AKU_00033	06	c.368G>C + c.368G>C	r.(?)	p.(Gly123Ala)	G123A	rs374473331	missense	Protomer destabilisation, Hexamer disruption	Zatkova et al. (2012)	-	AKU_TR2_0136a	substitution	(-)BpmI; (+)PstI	-	DNA	SEQ	exon	AKU_TR2_0136	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	France/Algeria	1	1
+/+?	AKU_00033	06	c.368G>C + c.368G>C	r.(?)	p.(Gly123Ala)	G123A	rs374473331	missense	Protomer destabilisation, Hexamer disruption	Zatkova et al. (2012)	-	AKU_TR2_0136a	substitution	(-)BpmI; (+)PstI	-	DNA	SEQ	exon	AKU_TR2_0136	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	France/Algeria	1	1
+/?	AKU_00222	06	c.372C>T + c.16-1G>A, c.16-1G>A, c.753C>T, c.1191A>C	r.(?)	p.(Asp124Asp)	D124D	rs140977117	silent/polymorphism - no effect on splicing (splicing minigene experiment)	-	Ascher et al. (2019)	-	AKU_DB_287d	substitution	?	-	DNA	SEQ	exon	AKU_DB_287	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	3	1
+/+	AKU_00034	06	c.376_377delAA + c.376_377delAA	r.(?)	p.(Lys126Valfs*2)	K126fs	rs1057516976	frameshift	-	Vilboux et al. (2009)	-	AKU_VIL_50a	deletion	(+)Tth111I; (-)AhdI	-	DNA	SEQ	exon	AKU_VIL_50	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+	AKU_00034	06	c.376_377delAA + c.376_377delAA	r.(?)	p.(Lys126Valfs*2)	K126fs	rs1057516976	frameshift	-	Vilboux et al. (2009)	-	AKU_VIL_50b	deletion	(+)Tth111I; (-)AhdI	-	DNA	SEQ	exon	AKU_VIL_50	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+?	AKU_00035	06	c.407T>A	r.(?)	p.(Phe136Tyr)	F136Y	rs2472716381	missense	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_PHO_9	substitution	-	-	DNA	SEQ	exon	AKU_PHO_9	AKU	Phornphutkul et al. (2002), Slovakia (Slovak Republic):Bratislava	?	1	USA	1	1
+/+?	AKU_00036	06	c.410T>C + c.175delA	r.(?)	p.(Leu137Pro)	L137P	rs2472716303	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_VIL_17b	substitution	-	-	DNA	SEQ	exon	AKU_VIL_17	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00036	06	c.410T>C + c.410T>C	r.(?)	p.(Leu137Pro)	L137P	rs2472716303	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_VIL_61a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_61	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+?	AKU_00036	06	c.410T>C + c.410T>C	r.(?)	p.(Leu137Pro)	L137P	rs2472716303	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_VIL_61b	substitution	-	-	DNA	SEQ	exon	AKU_VIL_61	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/?	AKU_00232	06	c.413G>A + c.481G>A	r.(?)	p.(Cys138Tyr)	C138Y	rs1941316527	missense	Protomer destabilisation	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_334b	substitution	?	-	DNA	SEQ	exon	AKU_DB_334	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00037	06	c.413_434+35del + c.1102A>G	r.(?)	p.(Cys138Tyrfs*11)	c.413_434+35del57	-	deletion/exon skipping/frameshift?	-	Vilboux et al. (2009)	-	AKU_VIL_20a	deletion	-	-	DNA	SEQ	exon	AKU_VIL_20	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00037	06	c.413_434+35del + c.1102A>G	r.(?)	p.(Cys138Tyrfs*11)	c.413_434+35del57	-	deletion/exon skipping/frameshift?	-	Vilboux et al. (2009)	-	AKU_VIL_85a	deletion	-	-	DNA	SEQ	exon	AKU_VIL_85	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00038	06	c.429G>Y (C,T)	r.(?)	p.(Glu143Asp)	E143D	-	missense/polymorphism?; exact nt change was not indicated and not reconstructible	unknown	Phornphutkul et al. (2002)	-	AKU_PHO_10	substitution	-	-	DNA	SEQ	exon	AKU_PHO_10	AKU	Phornphutkul et al. (2002), Slovakia (Slovak Republic):Bratislava	?	1	USA	1	1
+/+	AKU_00039	06	c.433A>T	r.(?)	p.(Arg145*)	R145*	rs2472716150	nonsense	-	Phornphutkul et al. (2002)	-	AKU_PHO_11	substitution	-	-	DNA	SEQ	exon	AKU_PHO_11	AKU	Phornphutkul et al. (2002), Slovakia (Slovak Republic):Bratislava	?	1	USA	1	1
-?/?	AKU_00120	06i	c.434+46C>A	r.(?)	p.(?)	ivs6+46C>A	rs3817627	polymorphism	-	de Bernabe et al. (1998)	-	AKU_POL_14	substitution	-	0,31(A)	DNA	SEQ	intron	AKU_POL_14	-	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
+/?	AKU_00155	07	c.440T>C + c.481G>A	r.(?)	p.(Phe147Ser)	F147S	rs2472705677	missense	Protomer destabilisation	Nemethova et al. (2016)	-	AKU_DB_180b	substitution	-	-	DNA	SEQ	exon	AKU_DB_180	AKU	Nemethova et al. (2016), France:Marseilles	Compound heterozygous	1	France	1	1
+/?	AKU_00155	07	c.440T>C + c.481G>A	r.(?)	p.(Phe147Ser)	F147S	rs2472705677	missense	Protomer destabilisation	Nemethova et al. (2016)	-	AKU_TR2_0318b	substitution	-	-	DNA	SEQ	exon	AKU_TR2_0318	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	1	1
+/+?	AKU_00040	07	c.447T>A + c.502G>T, c.1007-2A>T	r.(?)	p.(Asn149Lys)	N149K	rs2107513499	missense	Protomer destabilisation, Hexamer disruption	Vilboux et al. (2009)	-	AKU_VIL_36a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_36	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/?	AKU_00181	07	c.449C>T + c.481G>A	r.(?)	p.(Ser150Leu)	S150L	rs541367417	missense	Hexamer disruption	Ascher et al. (2019)	-	AKU_TR2_0105b	substitution	?	-	DNA	SEQ	exon	AKU_TR2_0105	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Sweeden	1	1
+/+	AKU_00174	07	c.454G>A + c.481G>A	r.(?)	p.(Gly152Arg)	G152R	rs2472705545	missense	Protomer destabilisation, Hexamer disruption	Ascher et al. (2019)	CCC triplet	AKU_TR2_0257b	substitution	?	-	DNA	SEQ	exon	AKU_TR2_0257	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Austria	1	1
+/+?	AKU_00041	07	c.455G>C + c.98A>G	r.(?)	p.(Gly152Ala)	G152A	rs1553717936	missense	Protomer destabilisation, Hexamer disruption	Zatkova et al. (2012)	CCC triplet	AKU_DB_100b	substitution	(-)BsmFI; (+)AciI	-	DNA	SEQ	exon	AKU_DB_100	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	South Korea	1	1
+/+	AKU_00042	07	c.457dupG + c.481G>A	r.(?)	p.(Asp153Glyfs*26)	D153fs (G152fs)	rs397515346	frameshift	-	Gehrig et al. (1997)	CCC triplet	AKU_DB_101a	insertion	-	-	DNA	SEQ	exon	AKU_DB_101	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00042	07	c.457dupG + c.1111dupC	r.(?)	p.(Asp153Glyfs*26)	D153fs (G152fs)	rs397515346	frameshift	-	Gehrig et al. (1997)	CCC triplet	AKU_DB_103a	insertion	-	-	DNA	SEQ	exon	AKU_DB_103	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00042	07	c.457dupG + c.457dupG	r.(?)	p.(Asp153Glyfs*26)	D153fs (G152fs)	rs397515346	frameshift	-	Gehrig et al. (1997)	CCC triplet	AKU_DB_28a	insertion	-	-	DNA	SEQ	exon	AKU_DB_28	AKU	Porfirio et al. (2000), Italy:Florence	Homozygot	1	Italy	2	1
+/+	AKU_00042	07	c.457dupG + c.457dupG	r.(?)	p.(Asp153Glyfs*26)	D153fs (G152fs)	rs397515346	frameshift	-	Gehrig et al. (1997)	CCC triplet	AKU_DB_28b	insertion	-	-	DNA	SEQ	exon	AKU_DB_28	AKU	Porfirio et al. (2000), Italy:Florence	Homozygot	1	Italy	2	1
+/+	AKU_00042	07	c.457dupG + c.457dupG	r.(?)	p.(Asp153Glyfs*26)	D153fs (G152fs)	rs397515346	frameshift	-	Gehrig et al. (1997)	CCC triplet	AKU_DB_39a	insertion	-	-	DNA	SEQ	exon	AKU_DB_39	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	France	2	1
+/+	AKU_00042	07	c.457dupG + c.457dupG	r.(?)	p.(Asp153Glyfs*26)	D153fs (G152fs)	rs397515346	frameshift	-	Gehrig et al. (1997)	CCC triplet	AKU_DB_39b	insertion	-	-	DNA	SEQ	exon	AKU_DB_39	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	France	2	1
+/+	AKU_00042	07	c.457dupG + c.899T>G	r.(?)	p.(Asp153Glyfs*26)	D153fs (G152fs)	rs397515346	frameshift	-	Gehrig et al. (1997)	CCC triplet	AKU_DB_50a	insertion	-	-	DNA	SEQ	exon	AKU_DB_50	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00042	07	c.457dupG + c.342+1G>A	r.(?)	p.(Asp153Glyfs*26)	D153fs (G152fs)	rs397515346	frameshift	-	Gehrig et al. (1997)	CCC triplet	AKU_DB_51c	insertion	-	-	DNA	SEQ	exon	AKU_DB_51	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00042	07	c.457dupG + c.457dupG	r.(?)	p.(Asp153Glyfs*26)	D153fs (G152fs)	rs397515346	frameshift	-	Gehrig et al. (1997)	CCC triplet	AKU_DB_55a	insertion	-	-	DNA	SEQ	exon	AKU_DB_55	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	2	1

501 - 600
[<<] [<-] 1 2 3 4 5 6 7 8 9 10 11 ... [->] [>>]

Click here to save this list in a tab-delimited text file.

Coding DNA Reference Sequence: NM_000187.3, the first base of the Met-codon is counted as position 1.

Some specific features:
Exon: (00) stands for any exon; (i) indicates intron.
DNA: (c.?) or wobble code is used when nucleotide change was not known or not indicated
Variant original description: brief name of the mutation; if original description of the mutation was different, it is indicated after comma
Remarks: description of the variant, CR= cryptic, AS= acceptor site, DS=donor site
Predicted Mutation Effect**: The effects of the novel missense variants on stability and protein-protein afinity was assessed in the context
of the molecular interactions of the wild-type residue using mCSM Pires et al. (2014a) and DUET Pires et al. (2014b). Details are downloadable here: TABLE

Allele_code: i.e. patient with the Patient_ID (AKU_AQR_11) has alleles AKU_AQR_11a and AKU_AQR_11b
Restriction site: mutation abolishes (-) or creates (+) specific restriction site
Frequency: of specific polymorphic alleles (AKUdatabase or Vilboux at al. (2009))
Patient_ID: in cases with ID starting with AKU_DB_ we report also HGD haplotypes that can be found in this link: HGD haplotypes associated with AKU mutations
DBID: AKU_00000 is used for alleles with unknown mutation

References not present in PubMed:
Aquaron et al. (2009) (not listed in PubMed): Current Rheumatology Reviews, 2009, 5:111-125. https://doi.org/10.2174/157339709788298419
Cho end Kim (2018) (not listed in PubMed): J Genet Med, 2018, 15:17-19. https://doi.org/10.5734/JGM.2018.15.1.17
Kilavuz et al. (2018) (not listed in PubMed): J. Pediatr. Res. 2018, 5: 7-11. https://doi.org/10.4274/jpr.20982
Akbaba et al. (2020) (not listed in PubMed): JPEM, 33 (2): 289-294, https://doi.org/10.1515/jpem-2019-0163
Mwafi et al. (2021) (not listed in PubMed): AIMS Molecular Science, 8 (1): 60-75, https://doi.org/10.3934/molsci.2021005
Noorian et al. (2018) (not listed in PubMed): Meta Gene, 18: 174-176, https://doi.org/10.1016/j.mgene.2018.09.006

Legend: [ HGD full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. HGD DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Original description: Variant_original_description Links: Links Variant remarks: Variant remarks Predicted Mutation Effect**: The effects of the novel missense variants on stability and protein-protein afinity was assessed in the context of the molecular interactions of the wild-type residue using mCSM and DUET. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Mutation HOT-SPOT: mutation_HOT_SPOT Allele code: Allele_code Type: Type of variant at DNA level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Location: Variant location at DNA level. Patient ID: Internal reference to the patient. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the patient, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported Geographic origin: Geographic origin of patient Patient/Affected_per_Family: Number of patients per family Families Patients: test

HGD mutation database

homogentisate 1,2-dioxygenase (HGD)