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.

1457 public entries
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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_00098	13	c.1111dupC + c.481G>A	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_SRS_17b	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_SRS_17	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00098	13	c.1111dupC + c.808G>A	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_SRS_4b	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_SRS_4	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00098	13	c.1111dupC + c.481G>A	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_SRS_9b	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_SRS_9	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00098	13	c.1111dupC + c.1102A>G	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_VIL_60b	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_VIL_60	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00098	13	c.1111dupC + c.674G>T	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_VIL_62b	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_VIL_62	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00098	13	c.1111dupC + c.457dupG	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_ZAT_2b	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_ZAT_2	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00098	13	c.1111dupC + c.481G>A	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_DB_142a	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_DB_142	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00098	13	c.1111dupC + c.808G>A	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_DB_67c	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_DB_67	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00098	13	c.1111dupC + c.481G>A	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_DB_149b	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_DB_149	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00098	13	c.1111dupC + c.481G>A	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_TR2_0208b	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_TR2_0208	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00098	13	c.1111dupC + c.481G>A	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_TR2_0263b	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_TR2_0263	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00098	13	c.1111dupC + c.481G>A	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_DB_354b	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_DB_354	AKU	Akbaba et al. 2020, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Turkey	1	1
+/+	AKU_00098	13	c.1111dupC + c.808G>A	r.(?)	p.(His371Profs*4)	H371fs (P370fs)	rs120074172	frameshift	-	Muller et al. (1999)	CCC triplet	AKU_DB_448a	insertion	(+)BsiYI;BslI	-	DNA	SEQ	exon	AKU_DB_448	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00099	13	c.1112A>G + c.1112A>G	r.(?)	p.(His371Arg)	H371R	rs120074172	missense	Active site disruption, Hexamer disruption	de Bernabe et al. (1999b)	CCC triplet	AKU_DB_35a	substitution	(-)NcoI	-	DNA	SEQ	exon	AKU_DB_35	AKU	de Bernabe et al. (1999b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Finland	1	1
+/+	AKU_00099	13	c.1112A>G + c.1112A>G	r.(?)	p.(His371Arg)	H371R	rs120074172	missense	Active site disruption, Hexamer disruption	de Bernabe et al. (1999b)	CCC triplet	AKU_DB_35b	substitution	(-)NcoI	-	DNA	SEQ	exon	AKU_DB_35	AKU	de Bernabe et al. (1999b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Finland	1	1
+/+	AKU_00099	13	c.1112A>G + c.457dupG	r.(?)	p.(His371Arg)	H371R	rs120074172	missense	Active site disruption, Hexamer disruption	de Bernabe et al. (1999b)	CCC triplet	AKU_DB_318b	substitution	(-)NcoI	-	DNA	SEQ	exon	AKU_DB_318	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/?	AKU_00234	13	c.1114G>A + c.481G>A	r.(?)	p.(Gly372Arg)	G372R	rs1940645842	missense	Active site disruption	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_335b	substitution	?	-	DNA	SEQ	exon	AKU_DB_335	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00178	13	c.1115_1117del + c.481G>A	r.(?)	p.(Gly372_Pro373delinsAla)	G372_P373delinsAla	-	deletion/insertion inframe	-	Ascher et al. (2019)	-	AKU_TR2_0127b	deletion/insertion inframe	?	-	DNA	SEQ	exon	AKU_TR2_0127	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Poland	1	1
+/+	AKU_00178	13	c.1115_1117delGAC + c.481G>A	r.(?)	p.(Gly372_Pro373delinsAla)	G372_P373delinsAla	-	deletion/insertion inframe	-	Ascher et al. (2019)	-	AKU_TU_37b	deletion/insertion inframe	?	-	DNA	SEQ	exon	AKU_TU_37	AKU	Kisa et al. (2021), Turkey:Izmir	Compound heterozygous	1	Turkey	1	1
+/+?	AKU_00100	13	c.1118C>T + c.1017_1019delGAGinsTA	r.(?)	p.(Pro373Leu)	P373L	rs138558042	missense	Active site disruption	Vilboux et al. (2009)	-	AKU_VIL_59b	substitution	(-)Sau96I, AvaII	-	DNA	SEQ	exon	AKU_VIL_59	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00148	13	c.1120G>C + c.808G>A	r.(?)	p.(Asp374His)	D374H	rs981454067	missense	Active site disruption	Zatkova et al. (2012)	-	AKU_DB_125b	substitution	(-)SfaNI	-	DNA	SEQ	exon	AKU_DB_125	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00247	13	c.1157_1160delTGGC + c.16-2063A>C	r.(?)	p.(Leu386Hisfs*18)	L386fs	rs772802378	frameshift	-	Lee et al. (2022)	-	AKU_DB_421a	deletion	-	-	DNA	SEQ	exon	AKU_DB_421	AKU	Lee et al. (2022), Taiwan:Taipei	Compound heterozygous	1	Taiwan	1	1
+/+?	AKU_00241	13i	c.1188+1G>A + c.1188+1G>A	r.(?)	?	ivs13+1G>A	-	aberrant splicing (DS)/exon skipping/frameshift?	-	Kisa et al. (2021)	-	AKU_TU_15a	substitution	?	-	DNA	SEQ	intron	AKU_TU_15	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+?	AKU_00241	13i	c.1188+1G>A + c.1188+1G>A	r.(?)	?	ivs13+1G>A	-	aberrant splicing (DS)/exon skipping/frameshift?	-	Kisa et al. (2021)	-	AKU_TU_15b	substitution	?	-	DNA	SEQ	intron	AKU_TU_15	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00101	13i	c.1188+1G>T + c.16-1G>A	r.(spl?)	p.(Arg336Serfs*5)	ivs13+1G>T	rs760206323	aberrant splicing (DS)/exon skipping/frameshift?	-	Rodriguez et al. (2000)	-	AKU_DB_22b	substitution	-	-	DNA	SEQ	intron	AKU_DB_22	AKU	de Bernabe et al. (1999a), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Poland	1	1
+/+	AKU_00101	13i	c.1188+1G>T + c.481G>A	r.(spl?)	p.(Arg336Serfs*5)	ivs13+1G>T	rs760206323	aberrant splicing (DS)/exon skipping/frameshift?	-	Rodriguez et al. (2000)	-	AKU_DB_317b	substitution	-	-	DNA	SEQ	intron	AKU_DB_317	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/?	AKU_00228	13i	c.1188+8T>A + c.481G>A	r.(?)	p.(?)	ivs13+8T>A	-	aberrant splicing (AS)/exon skipping	-	Soltysova et al. (2021)	-	AKU_DB_314b	substitution	?	-	DNA	SEQ	exon	AKU_DB_314	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
-?/?	AKU_00125	13i	c.1188+51A>G	r.(?)	p.(?)	ivs13+51A>G	rs112229599	polymorphism, found in one algerian normal chromosome	-	AKU database	-	AKU_POL_19	substitution	-	0,006(G)	DNA	SEQ	intron	AKU_POL_19	-	AKU database, Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
-?/?	AKU_00136	13i	c.1188+89C>T	r.(?)	p.(?)	ivs13+89C>T	-	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_30	substitution	-	0,025(T)	DNA	SEQ	intron	AKU_POL_30	-	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
-?/?	AKU_00137	13i	c.1188+142G>T	r.(?)	p.(?)	ivs13+142G>T	rs61799339	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_31	substitution	-	0,063(T)	DNA	SEQ	intron	AKU_POL_31	-	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
-?/?	AKU_00138	13i	c.1188+203G>A	r.(?)	p.(?)	ivs13+203G>A	rs804974	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_32	substitution	-	0,203(T)	DNA	SEQ	intron	AKU_POL_32	-	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
+/?	AKU_00204	13i14	c.1189-41_1248del + c.1189-41_1248del	r.(?)	p.(?)	in13ex14 del	-	deletion	-	Ascher et al. (2019)	-	AKU_DB_239a	deletion	-	-	DNA	SEQ	intron/exon	AKU_DB_239	AKU	Ascher et al. (2019), Italy:Florence	Homozygot	1	Iran	1	1
+/?	AKU_00204	13i14	c.1189-41_1248del + c.1189-41_1248del	r.(?)	p.(?)	in13ex14 del	-	deletion	-	Ascher et al. (2019)	-	AKU_DB_239b	deletion	-	-	DNA	SEQ	intron/exon	AKU_DB_239	AKU	Ascher et al. (2019), Italy:Florence	Homozygot	1	Iran	1	1
+/?	AKU_00204	13i14	c.1189-41_1248del + c.1189-41_1248del	r.(?)	p.(?)	in13ex14 del	-	deletion	-	Ascher et al. (2019)	-	AKU_DB_347a	deletion	-	-	DNA	SEQ	intron/exon	AKU_DB_347	AKU	Kilavuz et al. 2018, Turkey:Adana	Homozygot	1	Turkey	1	1
+/?	AKU_00204	13i14	c.1189-41_1248del + c.1189-41_1248del	r.(?)	p.(?)	in13ex14 del	-	deletion	-	Ascher et al. (2019)	-	AKU_DB_347b	deletion	-	-	DNA	SEQ	intron/exon	AKU_DB_347	AKU	Kilavuz et al. 2018, Turkey:Adana	Homozygot	1	Turkey	1	1
+/?	AKU_00204	13i14	c.1189-41_1248del + c.1189-41_1248del	r.(?)	p.(?)	in13ex14 del	-	deletion	-	Ascher et al. (2019)	-	AKU_TU_03a	deletion	-	-	DNA	SEQ	intron/exon	AKU_TU_03	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	2	1
+/?	AKU_00204	13i14	c.1189-41_1248del + c.1189-41_1248del	r.(?)	p.(?)	in13ex14 del	-	deletion	-	Ascher et al. (2019)	-	AKU_TU_03b	deletion	-	-	DNA	SEQ	intron/exon	AKU_TU_03	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	2	1
+/?	AKU_00223	14	c.1191A>C + c.16-1G>A, c.16-1G>A, c.372C>T, c.753C>T	r.(?)	p.(Ala397Ala)	A397A	rs137923025	silent/polymorphism - no effect on splicing	-	Ascher et al. (2019)	-	AKU_DB_287e	substitution	?	-	DNA	SEQ	exon	AKU_DB_287	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	3	1
+/+?	AKU_00102	14	c.1201G>C + c.1201G>C	r.(?)	p.(Glu401Gln)	E401Q	rs767159114	missense	Active site disruption, Hexamer disruption	Mannoni et al. (2004)	-	AKU_MAN_2a	substitution	(-)TfiI ?	-	DNA	SEQ	exon	AKU_MAN_2	AKU	Mannoni et al. (2004), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	2	1
+/+?	AKU_00102	14	c.1201G>C + c.1201G>C	r.(?)	p.(Glu401Gln)	E401Q	rs767159114	missense	Active site disruption, Hexamer disruption	Mannoni et al. (2004)	-	AKU_MAN_2b	substitution	(-)TfiI ?	-	DNA	SEQ	exon	AKU_MAN_2	AKU	Mannoni et al. (2004), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	2	1
+/+?	AKU_00102	14	c.1201G>C + c.1007-2A>T	r.(?)	p.(Glu401Gln)	E401Q	rs767159114	missense	Active site disruption, Hexamer disruption	Mannoni et al. (2004)	-	AKU_VIL_14b	substitution	(-)TfiI ?	-	DNA	SEQ	exon	AKU_VIL_14	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00102	14	c.1201G>C + c.481G>A	r.(?)	p.(Glu401Gln)	E401Q	rs767159114	missense	Active site disruption, Hexamer disruption	Mannoni et al. (2004)	-	AKU_DB_165b	substitution	(-)TfiI ?	-	DNA	SEQ	exon	AKU_DB_165	AKU	Nemethova et al. (2016), Italy:Roma	Compound heterozygous	1	Italy	1	1
+/+?	AKU_00102	14	c.1201G>C + c.1201G>C	r.(?)	p.(Glu401Gln)	E401Q	rs767159114	missense	Active site disruption, Hexamer disruption	Mannoni et al. (2004)	-	AKU_DB_173a	substitution	(-)TfiI ?	-	DNA	SEQ	exon	AKU_DB_173	AKU	Nemethova et al. (2016), Italy:Florence	Homozygot	1	Italy	1	1
+/+?	AKU_00102	14	c.1201G>C + c.1201G>C	r.(?)	p.(Glu401Gln)	E401Q	rs767159114	missense	Active site disruption, Hexamer disruption	Mannoni et al. (2004)	-	AKU_DB_173b	substitution	(-)TfiI ?	-	DNA	SEQ	exon	AKU_DB_173	AKU	Nemethova et al. (2016), Italy:Florence	Homozygot	1	Italy	1	1
+/+?	AKU_00102	14	c.1201G>C + c.656_657insAATCAA	r.(?)	p.(Glu401Gln)	E401Q	rs767159114	missense	Active site disruption, Hexamer disruption	Mannoni et al. (2004)	-	AKU_DB_245a	substitution	(-)TfiI ?	-	DNA	SEQ	exon	AKU_DB_245	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
+/+?	AKU_00102	14	c.1201G>C + c.457dupG	r.(?)	p.(Glu401Gln)	E401Q	rs767159114	missense	Active site disruption, Hexamer disruption	Mannoni et al. (2004)	-	AKU_DB_251a	substitution	(-)TfiI ?	-	DNA	SEQ	exon	AKU_DB_251	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	2	1
+/+?	AKU_00102	14	c.1201G>C + c.1201G>C	r.(?)	p.(Glu401Gln)	E401Q	rs767159114	missense	Active site disruption, Hexamer disruption	Mannoni et al. (2004)	-	AKU_TR2_0305a	substitution	(-)TfiI ?	-	DNA	SEQ	exon	AKU_TR2_0305	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	France	2	1
+/+?	AKU_00102	14	c.1201G>C + c.1201G>C	r.(?)	p.(Glu401Gln)	E401Q	rs767159114	missense	Active site disruption, Hexamer disruption	Mannoni et al. (2004)	-	AKU_TR2_0305a	substitution	(-)TfiI ?	-	DNA	SEQ	exon	AKU_TR2_0305	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	France	2	1
+/+?	AKU_00102	14	c.1201G>C + c.1201G>C, c.1201G>C	r.(?)	p.(Glu401Gln)	E401Q	rs767159114	missense	Active site disruption, Hexamer disruption	Mannoni et al. (2004)	-	AKU_TR2_0112a	substitution	(-)TfiI ?	-	DNA	SEQ	exon	AKU_TR2_0112	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	2	1
+/+?	AKU_00102	14	c.1201G>C + c.1201G>C, c.1201G>C	r.(?)	p.(Glu401Gln)	E401Q	rs767159114	missense	Active site disruption, Hexamer disruption	Mannoni et al. (2004)	-	AKU_TR2_0112b	substitution	(-)TfiI ?	-	DNA	SEQ	exon	AKU_TR2_0112	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	2	1
+/+?	AKU_00102	14	c.1201G>C + c.1201G>C, c.1201G>C	r.(?)	p.(Glu401Gln)	E401Q	rs767159114	missense	Active site disruption, Hexamer disruption	Mannoni et al. (2004)	-	AKU_TR2_0112c	substitution	(-)TfiI ?	-	DNA	SEQ	exon	AKU_TR2_0112	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	2	1
+/+?	AKU_00103	14	c.1221G>A + c.(?)	r.(spl?)	p.(Ala407Ala)	A407A	rs146206905	silent/aberrant splicing (creating novel DS)	-	Ladjouze-Rezig et al. (2006)	-	AKU_DB_42a	substitution	(-)AciI	-	DNA	SEQ	exon	AKU_DB_42	AKU	Ladjouze-Rezig et al. (2006), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Algeria	1	1
+/+?	AKU_00147	14	c.1290_1300del + c.343G>C	r.(?)	p.(Lys431Hisfs*11)	K431fs (old description c.1282_1292delGAGCCACTCAA)	rs1553715351	frameshift	-	Zatkova et al. (2012)	-	AKU_DB_124b	deletion	-	-	DNA	SEQ	exon	AKU_DB_124	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00104	14	c.1336T>C + c.359G>T	r.(?)	p.(446Argext24)	*446ext	rs143370662	extention	-	Vilboux et al. (2009)	-	AKU_VIL_13b	substitution	(+)Taq1	-	DNA	SEQ	exon	AKU_VIL_13	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00104	14	c.1336T>C + c.773A>C	r.(?)	p.(446Argext24)	*446ext	rs143370662	extention	-	Vilboux et al. (2009)	-	AKU_VIL_44b	substitution	(+)Taq1	-	DNA	SEQ	exon	AKU_VIL_44	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00104	14	c.1336T>C + c.1336T>C	r.(?)	p.(446Argext24)	*446ext	rs143370662	extention	-	Vilboux et al. (2009)	-	AKU_DB_130a	substitution	(+)Taq1	-	DNA	SEQ	exon	AKU_DB_130	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	2	1
+/+?	AKU_00104	14	c.1336T>C + c.1336T>C	r.(?)	p.(446Argext24)	*446ext	rs143370662	extention	-	Vilboux et al. (2009)	-	AKU_DB_130b	substitution	(+)Taq1	-	DNA	SEQ	exon	AKU_DB_130	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	2	1

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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, 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)