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_00020	04	c.217T>C + c.1078G>C	r.(?)	p.(Phe73Leu)	F73L	rs2472786163	missense	Protomer destabilisation, Hexamer disruption	Vilboux et al. (2009)	CCC triplet	AKU_TR2_0122a	substitution	-	-	DNA	SEQ	exon	AKU_TR2_0122	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Spain	1	1
+/+?	AKU_00256	04	c.221A>T + c.1095_1100dup	r.(?)	p.(Glu74Val)	E74V	rs141965690	missense	-	Hu et al. (2012)	-	AKU_DB_425a	substitution	?	-	DNA	SEQ	exon	AKU_DB_425	AKU	Hu et al. (2012), Taiwan:Taipei	Compound heterozygous	1	China	1	1
-?/-?	AKU_00113	04	c.240A>T	r.(?)	p.(His80Gln)	H80Q	rs2255543	missense/polymorphism	-	de Bernabe et al. (1998)	-	AKU_POL_7	substitution	(+)NlaIII	0,22(A)	DNA	SEQ	exon	AKU_POL_7	-	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
-/?	AKU_00129	04	c.260A>C	r.(?)	p.(Glu87Ala)	E87A	rs35702995	missense/polymorphism	Protomer destabilisation, Hexamer disruption	Vilboux et al. (2009)	-	AKU_POL_23	substitution	(+)SfaNI	-	DNA	SEQ	exon	AKU_POL_23	-	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
+/+?	AKU_00021	04	c.274C>A + c.(?)	r.(?)	p.(Pro92Thr)	P92T	rs2472785351	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_VIL_40a	substitution	(-)BsaBI	-	DNA	SEQ	exon	AKU_VIL_40	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
-?/?	AKU_00116	04i	c.282+31A>G	r.(?)	p.(?)	ivs4+31A>G	rs1800722	polymorphism	-	de Bernabe et al. (1999b)	-	AKU_POL_10	substitution	-	0,02(G)	DNA	SEQ	intron	AKU_POL_10	-	de Bernabe et al. (1999b), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
-?/?	AKU_00130	04i	c.283-145C>T	r.(?)	p.(?)	ivs4-145C>T	-	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_24	substitution	-	0,032(T)	DNA	SEQ	intron	AKU_POL_24	-	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
-?/?	AKU_00117	04i	c.283-14insA	r.(?)	p.(?)	ivs4-14insA	-	polymorphism	-	AKU database	-	AKU_POL_11	insertion	-	0,01(A)	DNA	SEQ	intron	AKU_POL_11	-	AKU database, Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
-?/?	AKU_00118	04i	c.283-4T>C	r.(?)	p.(?)	ivs4-4T>C	-	aberrant splicing (AS)/exon skipping, polymorphism?	-	AKU database	-	AKU_POL_12	substitution	-	0,001(C)	DNA	SEQ	intron	AKU_POL_12	-	AKU database, Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
+/+	AKU_00197	05_06	c.283-9199_c.434+1688del + c.674G>A	r.(?)	p.(Leu95Metfs*33)	ex5,6 del	-	deletion	-	Ascher et al. (2019)	CpG	AKU_TR2_0115b	deletion	-	-	DNA	SEQ, MLPA	exon	AKU_TR2_0115	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Netherland	1	1
+/+?	AKU_00022	05	c.289T>C + c.359G>T	r.(?)	p.(Trp97Arg)	W97R	rs2472725122	missense	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_VIL_49a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_49	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00022	05	c.289T>C + c.359G>T	r.(?)	p.(Trp97Arg)	W97R	rs2472725122	missense	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_VIL_51a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_51	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00023	05	c.289T>G + c.289T>G	r.(?)	p.(Trp97Gly)	W97G	rs2472725122	missense	Protomer destabilisation	de Bernabe et al. (1998)	-	AKU_DB_14a	substitution	(+)MnlI	-	DNA	SEQ	exon	AKU_DB_14	AKU	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	Homozygot	1	France	3	1
+/+	AKU_00023	05	c.289T>G + c.289T>G	r.(?)	p.(Trp97Gly)	W97G	rs2472725122	missense	Protomer destabilisation	de Bernabe et al. (1998)	-	AKU_DB_14b	substitution	(+)MnlI	-	DNA	SEQ	exon	AKU_DB_14	AKU	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	Homozygot	1	France	3	1
+/+	AKU_00023	05	c.289T>G + c.961C>T	r.(?)	p.(Trp97Gly)	W97G	rs2472725122	missense	Protomer destabilisation	de Bernabe et al. (1998)	-	AKU_DB_19a	substitution	(+)MnlI	-	DNA	SEQ	exon	AKU_DB_19	AKU	Rodriguez et al. (2000), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Switzerland	1	1
+/+	AKU_00023	05	c.289T>G + c.688C>T	r.(?)	p.(Trp97Gly)	W97G	rs2472725122	missense	Protomer destabilisation	de Bernabe et al. (1998)	-	AKU_TR2_0307b	substitution	(+)MnlI	-	DNA	SEQ	exon	AKU_TR2_0307	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	1	1
+/+	AKU_00023	05	c.289T>G + c.1102A>G	r.(?)	p.(Trp97Gly)	W97G	rs2472725122	missense	Protomer destabilisation	de Bernabe et al. (1998)	-	AKU_TR3_0130b	substitution	(+)MnlI	-	DNA	SEQ	exon	AKU_TR3_0130	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Belgium	1	1
+/+	AKU_00243	05	c.291G>A	r.(?)	p.(Trp97*)	W97*	rs766714128	nonsense	-	clinvar database	-	AKU_CV_01a	substitution	?	-	DNA	SEQ	exon	AKU_CV_01	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	?	1	1
+/+	AKU_00243	05	c.291G>A + c.587C>T	r.(?)	p.(Trp97*)	W97*	rs766714128	nonsense	-	clinvar database, Lee et al. (2022)	-	AKU_DB_422a	substitution	?	-	DNA	SEQ	exon	AKU_DB_422	AKU	Lee et al. (2022), Taiwan:Taipei	Compound heterozygous	1	Taiwan	1	1
+/+	AKU_00177	05	c.291G>C + c.291G>C	r.(?)	p.(Trp97Cys)	W97C	rs766714128	missense	-	Ascher et al. (2019)	-	AKU_TR2_0118a	substitution	?	-	DNA	SEQ	exon	AKU_TR2_0118	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Poland	1	1
+/+	AKU_00177	05	c.291G>C + c.291G>C	r.(?)	p.(Trp97Cys)	W97C	rs766714128	missense	-	Ascher et al. (2019)	-	AKU_TR2_0118b	substitution	?	-	DNA	SEQ	exon	AKU_TR2_0118	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Poland	1	1
+/+	AKU_00220	05	c.299T>C + c.1102A>G	r.(?)	p.(Phe100Ser)	F100S	-	missense	Protomer destabilisation	submitted, Dr. Andrea Zatkova	-	AKU_DB_283b	substitution	?	-	DNA	SEQ	exon	AKU_DB_283	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	1	1
+/+?	AKU_00242	05	c.334T>G + c.808G>A	r.(?)	p.(Phe112Val)	F112V	rs2472724557	missense	?	Kisa et al. (2021)	-	AKU_TU_29a	substitution	?	-	DNA	SEQ	exon	AKU_TU_29	AKU	Kisa et al. (2021), Turkey:Izmir	Compound heterozygous	1	Turkey	1	1
+/+?	AKU_00242	05	c.334T>G + c.334T>G	r.(?)	p.(Phe112Val)	F112V	rs2472724557	missense	?	Kisa et al. (2021)	-	AKU_DB_464a	substitution	?	-	DNA	SEQ	exon	AKU_DB_464	AKU	Azami et al. (2025), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Iran	1	1
+/+?	AKU_00242	05	c.334T>G + c.334T>G	r.(?)	p.(Phe112Val)	F112V	rs2472724557	missense	?	Kisa et al. (2021)	-	AKU_DB_464b	substitution	?	-	DNA	SEQ	exon	AKU_DB_464	AKU	Azami et al. (2025), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Iran	1	1
+/+?	AKU_00260	05	c.335T>C + c.342+1G>A	r.(?)	p.(Phe112Ser)	F112S	rs2472724534	missense	-	Puente et al. (2022)	-	AKU_DB_435a	substitution	?	-	DNA	SEQ	exon	AKU_DB_435	AKU	Puente et al. (2022), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Spain	2	1
+/+	AKU_00025	05i	c.342+1G>A + c.481G>A	r.(spl?)	p.(Leu95_Ser114del)	ivs5+1G>A	rs397515518	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	c.342+1G	AKU_DB_41a	substitution	-	-	DNA	SEQ	intron	AKU_DB_41	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00025	05i	c.342+1G>A + c.342+1G>A	r.(spl?)	p.(Leu95_Ser114del)	ivs5+1G>A	rs397515518	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	c.342+1G	AKU_DB_51a	substitution	-	-	DNA	SEQ	intron	AKU_DB_51	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	2	1
+/+	AKU_00025	05i	c.342+1G>A + c.342+1G>A	r.(spl?)	p.(Leu95_Ser114del)	ivs5+1G>A	rs397515518	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	c.342+1G	AKU_DB_51b	substitution	-	-	DNA	SEQ	intron	AKU_DB_51	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	2	1
+/+	AKU_00025	05i	c.342+1G>A + c.457dupG	r.(spl?)	p.(Leu95_Ser114del)	ivs5+1G>A	rs397515518	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	c.342+1G	AKU_DB_51b	substitution	-	-	DNA	SEQ	intron	AKU_DB_51	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00025	05i	c.342+1G>A + c.481G>A	r.(spl?)	p.(Leu95_Ser114del)	ivs5+1G>A	rs397515518	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	c.342+1G	AKU_MUL_1a	substitution	-	-	DNA	SEQ	intron	AKU_MUL_1	AKU	Muller et al. (1999), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Czech republic	1	1
+/+	AKU_00025	05i	c.342+1G>A + c.1017_1019delGAGinsTA	r.(spl?)	p.(Leu95_Ser114del)	ivs5+1G>A	rs397515518	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	c.342+1G	AKU_VIL_15a	substitution	-	-	DNA	SEQ	intron	AKU_VIL_15	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00025	05i	c.342+1G>A + c.342+1G>A	r.(spl?)	p.(Leu95_Ser114del)	ivs5+1G>A	rs397515518	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	c.342+1G	AKU_DB_301a	substitution	-	-	DNA	SEQ	intron	AKU_DB_301	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00025	05i	c.342+1G>A + c.342+1G>A	r.(spl?)	p.(Leu95_Ser114del)	ivs5+1G>A	rs397515518	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	c.342+1G	AKU_DB_301b	substitution	-	-	DNA	SEQ	intron	AKU_DB_301	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00025	05i	c.342+1G>A + c.335T>C	r.(spl?)	p.(Leu95_Ser114del)	ivs5+1G>A	rs397515518	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	c.342+1G	AKU_DB_435b	substitution	-	-	DNA	SEQ	intron	AKU_DB_435	AKU	Puente et al. (2022), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Spain	2	1
+/+	AKU_00024	05i	c.342+1G>T + c.342+1G>T	r.(spl?)	p.(Leu95_Ser114del)	ivs5+1G>T	rs397515518	aberrant splicing (DS)/exon skipping/in frame deletion?	-	de Bernabe et al. (1998)	c.342+1G	AKU_DB_9a	substitution	-	-	DNA	SEQ	intron	AKU_DB_9	AKU	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	Homozygot	1	The Netherlands	1	1
+/+	AKU_00024	05i	c.342+1G>T + c.342+1G>T	r.(spl?)	p.(Leu95_Ser114del)	ivs5+1G>T	rs397515518	aberrant splicing (DS)/exon skipping/in frame deletion?	-	de Bernabe et al. (1998)	c.342+1G	AKU_DB_9b	substitution	-	-	DNA	SEQ	intron	AKU_DB_9	AKU	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	Homozygot	1	The Netherlands	1	1
+/+	AKU_00024	05i	c.342+1G>T + c.1102A>G	r.(spl?)	p.(Leu95_Ser114del)	ivs5+1G>T	rs397515518	aberrant splicing (DS)/exon skipping/in frame deletion?	-	de Bernabe et al. (1998)	c.342+1G	AKU_VIL_19a	substitution	-	-	DNA	SEQ	intron	AKU_VIL_19	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00024	05i	c.342+1G>T + c.1102A>G	r.(spl?)	p.(Leu95_Ser114del)	ivs5+1G>T	rs397515518	aberrant splicing (DS)/exon skipping/in frame deletion?	-	de Bernabe et al. (1998)	c.342+1G	AKU_VIL_54a	substitution	-	-	DNA	SEQ	intron	AKU_VIL_54	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00024	05i	c.342+1G>T + c.342+1G>T	r.(spl?)	p.(Leu95_Ser114del)	ivs5+1G>T	rs397515518	aberrant splicing (DS)/exon skipping/in frame deletion?	-	de Bernabe et al. (1998)	c.342+1G	AKU_VIL_6a	substitution	-	-	DNA	SEQ	intron	AKU_VIL_6	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+	AKU_00024	05i	c.342+1G>T + c.342+1G>T	r.(spl?)	p.(Leu95_Ser114del)	ivs5+1G>T	rs397515518	aberrant splicing (DS)/exon skipping/in frame deletion?	-	de Bernabe et al. (1998)	c.342+1G	AKU_VIL_6b	substitution	-	-	DNA	SEQ	intron	AKU_VIL_6	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+	AKU_00024	05i	c.342+1G>T + c.342+1G>T	r.(spl?)	p.(Leu95_Ser114del)	ivs5+1G>T	rs397515518	aberrant splicing (DS)/exon skipping/in frame deletion?	-	de Bernabe et al. (1998)	c.342+1G	AKU_VIL_8a	substitution	-	-	DNA	SEQ	intron	AKU_VIL_8	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+	AKU_00024	05i	c.342+1G>T + c.342+1G>T	r.(spl?)	p.(Leu95_Ser114del)	ivs5+1G>T	rs397515518	aberrant splicing (DS)/exon skipping/in frame deletion?	-	de Bernabe et al. (1998)	c.342+1G	AKU_VIL_8b	substitution	-	-	DNA	SEQ	intron	AKU_VIL_8	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+?	AKU_00024	05i	c.342+1G>T + c.472_496del	r.(spl?)	p.(Leu95_Ser114del)	ivs5+1G>T	rs397515518	aberrant splicing (DS)/exon skipping/in frame deletion?	-	de Bernabe et al. (1998)	c.342+1G	AKU_DB_123a	substitution	-	-	DNA	SEQ	intron	AKU_DB_123	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	2	1
+/+	AKU_00024	05i	c.342+1G>T + c.140C>T	r.(spl?)	p.(Leu95_Ser114del)	ivs5+1G>T	rs397515518	aberrant splicing (DS)/exon skipping/in frame deletion?	-	de Bernabe et al. (1998)	c.342+1G	AKU_DB_452a	substitution	-	-	DNA	SEQ	intron	AKU_DB_452	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Sweden	1	1
+/+	AKU_00166	05i	c.342+3A>C + c.124delG (not c.115delG)	r.(spl?)	p.(Leu95_Ser114del)	ivs5+3A>C	rs1182670238	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Li et al. (2014)	-	AKU_DB_201b	substitution	?	-	DNA	SEQ	exon	AKU_DB_201	AKU	Li et al. (2014), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	China	1	1
+/+	AKU_00166	05i	c.342+3A>C + c.342+3A>C	r.(spl?)	p.(Leu95_Ser114del)	ivs5+3A>C	rs1182670238	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Li et al. (2014)	-	AKU_DB_252a	substitution	?	-	DNA	SEQ	exon	AKU_DB_252	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00166	05i	c.342+3A>C + c.342+3A>C	r.(spl?)	p.(Leu95_Ser114del)	ivs5+3A>C	rs1182670238	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Li et al. (2014)	-	AKU_DB_252b	substitution	?	-	DNA	SEQ	exon	AKU_DB_252	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00166	05i	c.342+3A>C + c.1006+6T>C	r.(spl?)	p.(Leu95_Ser114del)	ivs5+3A>C	rs1182670238	aberrant splicing (DS)/exon skipping/in frame deletion	-	Li et al. (2014)	-	AKU_DB_279a	substitution	?	-	DNA	SEQ	exon	AKU_DB_279	AKU	Cho a Kim 2018, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Korea	1	1
+/+	AKU_00214	05i	c.342+5G>A + c.342+5G>A	r.(spl?)	p.(Leu95_Ser114del)	ivs5+5G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	submitted, Dr. Mohammed Alsbou	-	AKU_DB_451a	substitution	?	-	DNA	SEQ	intron	AKU_DB_451	AKU	submitted, Dr. Mohammed Alsbou, Jordan:Karak	Homozygot	1	Iraq	1	1
+/+	AKU_00214	05i	c.342+5G>A + c.342+5G>A	r.(spl?)	p.(Leu95_Ser114del)	ivs5+5G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	submitted, Dr. Mohammed Alsbou	-	AKU_DB_451b	substitution	?	-	DNA	SEQ	intron	AKU_DB_451	AKU	submitted, Dr. Mohammed Alsbou, Jordan:Karak	Homozygot	1	Iraq	1	1
+/+	AKU_00214	05i	c.342+5G>A + c.342+5G>A	r.(spl?)	p.(Leu95_Ser114del)	ivs5+5G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Azami et al. (2025)	-	AKU_DB_459a	substitution	?	-	DNA	SEQ	intron	AKU_DB_459	AKU	Azami et al. (2025), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Iran	3	1
+/+	AKU_00214	05i	c.342+5G>A + c.342+5G>A	r.(spl?)	p.(Leu95_Ser114del)	ivs5+5G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Azami et al. (2025)	-	AKU_DB_459b	substitution	?	-	DNA	SEQ	intron	AKU_DB_459	AKU	Azami et al. (2025), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Iran	3	1
+/+	AKU_00214	05i	c.342+5G>A + c.342+5G>A	r.(spl?)	p.(Leu95_Ser114del)	ivs5+5G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Azami et al. (2025)	-	AKU_DB_460a	substitution	?	-	DNA	SEQ	intron	AKU_DB_460	AKU	Azami et al. (2025), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Iran	4	1
+/+	AKU_00214	05i	c.342+5G>A + c.342+5G>A	r.(spl?)	p.(Leu95_Ser114del)	ivs5+5G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Azami et al. (2025)	-	AKU_DB_460b	substitution	?	-	DNA	SEQ	intron	AKU_DB_460	AKU	Azami et al. (2025), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Iran	4	1
+/+	AKU_00214	05i	c.342+5G>A + c.342+5G>A	r.(spl?)	p.(Leu95_Ser114del)	ivs5+5G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Azami et al. (2025)	-	AKU_DB_461a	substitution	?	-	DNA	SEQ	intron	AKU_DB_461	AKU	Azami et al. (2025), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Iran	1	1
+/+	AKU_00214	05i	c.342+5G>A + c.342+5G>A	r.(spl?)	p.(Leu95_Ser114del)	ivs5+5G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Azami et al. (2025)	-	AKU_DB_461b	substitution	?	-	DNA	SEQ	intron	AKU_DB_461	AKU	Azami et al. (2025), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Iran	1	1
-?/?	AKU_00119	05i	c.342+25T>C	r.(?)	p.(?)	ivs5+25T>C	rs2551607	polymorphism	-	de Bernabe et al. (1998)	-	AKU_POL_13	substitution	-	0,12(C.)	DNA	SEQ	intron	AKU_POL_13	-	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
+/+?	AKU_00192	05i	c.343-11G>A + c.343-11G>A, c.650-13T>G, c.650-13T>G	r.(?)	p.(?)	ivs5-11G>A	rs143223637	polymorphism (splicing minigene experiment)	-	Ascher et al. (2019)	-	AKU_TR2_0332c	substitution	-	-	DNA/RNA	SEQ	intron	AKU_TR_0332	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Mali	1	1
+/+?	AKU_00192	05i	c.343-11G>A + c.343-11G>A, c.650-13T>G, c.650-13T>G	r.(?)	p.(?)	ivs5-11G>A	rs143223637	polymorphism (splicing minigene experiment)	-	Ascher et al. (2019)	-	AKU_TR2_0332d	substitution	-	-	DNA/RNA	SEQ	intron	AKU_TR_0332	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Mali	1	1
+/+?	AKU_00146	06	c.343G>C + c.1290_1300del	r.(?)	p.(Gly115Arg)	G115R	rs755734596	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_124a	substitution	(+)PleI, HinfI	-	DNA	SEQ	exon	AKU_DB_124	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00146	06	c.343G>C + c.1081G>A	r.(?)	p.(Gly115Arg)	G115R	rs755734596	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_126a	substitution	(+)PleI, HinfI	-	DNA	SEQ	exon	AKU_DB_126	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom/France	1	1
+/+?	AKU_00146	06	c.343G>C + c.1102A>G	r.(?)	p.(Gly115Arg)	G115R	rs755734596	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_222b	substitution	(+)PleI, HinfI	-	DNA	SEQ	exon	AKU_DB_222	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00146	06	c.343G>C + c.1081G>A	r.(?)	p.(Gly115Arg)	G115R	rs755734596	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_269a	substitution	(+)PleI, HinfI	-	DNA	SEQ	exon	AKU_DB_269	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00026	06	c.347T>C + c.347T>C	r.(?)	p.(Leu116Pro)	L116P	rs569846003	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_112a	substitution	(+)FauI, AciI	-	DNA	SEQ	exon	AKU_DB_112	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India	1	1
+/+?	AKU_00026	06	c.347T>C + c.347T>C	r.(?)	p.(Leu116Pro)	L116P	rs569846003	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_112b	substitution	(+)FauI, AciI	-	DNA	SEQ	exon	AKU_DB_112	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India	1	1
+/+?	AKU_00026	06	c.347T>C + c.674G>C	r.(?)	p.(Leu116Pro)	L116P	rs569846003	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_226a	substitution	(+)FauI, AciI	-	DNA	SEQ	exon	AKU_DB_226	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00026	06	c.347T>C + c.347T>C	r.(?)	p.(Leu116Pro)	L116P	rs569846003	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_275a	substitution	(+)FauI, AciI	-	DNA	SEQ	exon	AKU_DB_275	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+?	AKU_00026	06	c.347T>C + c.347T>C	r.(?)	p.(Leu116Pro)	L116P	rs569846003	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_275b	substitution	(+)FauI, AciI	-	DNA	SEQ	exon	AKU_DB_275	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+?	AKU_00026	06	c.347T>C + c.674G>C	r.(?)	p.(Leu116Pro)	L116P	rs569846003	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_270b	substitution	(+)FauI, AciI	-	DNA	SEQ	exon	AKU_DB_270	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00026	06	c.347T>C + c.808G>A	r.(?)	p.(Leu116Pro)	L116P	rs569846003	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_392a	substitution	(+)FauI, AciI	-	DNA	SEQ	exon	AKU_DB_392	AKU	Danda et al. (2020), India:Vellore	Compound heterozygous	1	India	1	1
+/+	AKU_00027	06	c.357dupG	r.(?)	p.(Cys120Valfs*9)	C120fs	rs2472717033	frameshift	-	Phornphutkul et al. (2002)	-	AKU_PHO_8	insertion	(+)BslI ?	-	DNA	SEQ	exon	AKU_PHO_8	AKU	Phornphutkul et al. (2002), Slovakia (Slovak Republic):Bratislava	?	1	USA	1	1
+/+?	AKU_00028	06	c.359G>T + c.1336T>C	r.(?)	p.(Cys120Phe)	C120F	rs752153829	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_VIL_13a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_13	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00028	06	c.359G>T + c.1102A>G	r.(?)	p.(Cys120Phe)	C120F	rs752153829	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_VIL_18a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_18	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00028	06	c.359G>T + c.1102A>G	r.(?)	p.(Cys120Phe)	C120F	rs752153829	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_VIL_28a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_28	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00028	06	c.359G>T + c.11T>C	r.(?)	p.(Cys120Phe)	C120F	rs752153829	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_VIL_30b	substitution	-	-	DNA	SEQ	exon	AKU_VIL_30	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00028	06	c.359G>T + c.11T>C	r.(?)	p.(Cys120Phe)	C120F	rs752153829	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_VIL_32b	substitution	-	-	DNA	SEQ	exon	AKU_VIL_32	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00028	06	c.359G>T + c.289T>C	r.(?)	p.(Cys120Phe)	C120F	rs752153829	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_VIL_49b	substitution	-	-	DNA	SEQ	exon	AKU_VIL_49	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00028	06	c.359G>T + c.289T>C	r.(?)	p.(Cys120Phe)	C120F	rs752153829	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_VIL_51b	substitution	-	-	DNA	SEQ	exon	AKU_VIL_51	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00028	06	c.359G>T + c.1102A>G	r.(?)	p.(Cys120Phe)	C120F	rs752153829	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_VIL_55a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_55	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00028	06	c.359G>T + c.1078G>C	r.(?)	p.(Cys120Phe	C120F	rs752153829	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_VIL_65a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_65	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00028	06	c.359G>T + c.1078G>C	r.(?)	p.(Cys120Phe)	C120F	rs752153829	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_VIL_68a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_68	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00028	06	c.359G>T + c.589A>G	r.(?)	p.(Cys120Phe)	C120F	rs752153829	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_DB_120a	substitution	-	-	DNA	SEQ	exon	AKU_DB_120	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	2	1
+/+?	AKU_00028	06	c.359G>T + c.125A>C	r.(?)	p.(Cys120Phe)	C120F	rs752153829	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_DB_203a	substitution	-	-	DNA	SEQ	exon	AKU_DB_203	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00028	06	c.359G>T + c.359G>T	r.(?)	p.(Cys120Phe)	C120F	rs752153829	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_DB_218a	substitution	-	-	DNA	SEQ	exon	AKU_DB_218	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+?	AKU_00028	06	c.359G>T + c.359G>T	r.(?)	p.(Cys120Phe)	C120F	rs752153829	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_DB_218b	substitution	-	-	DNA	SEQ	exon	AKU_DB_218	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+?	AKU_00028	06	c.359G>T + c.1078G>C	r.(?)	p.(Cys120Phe)	C120F	rs752153829	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_DB_227b	substitution	-	-	DNA	SEQ	exon	AKU_DB_227	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom/France	1	1
+/+?	AKU_00028	06	c.359G>T + c.359G>T	r.(?)	p.(Cys120Phe)	C120F	rs752153829	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_TR2_0121a	substitution	-	-	DNA	SEQ	exon	AKU_TR2_0121	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Wales	1	1
+/+?	AKU_00028	06	c.359G>T + c.359G>T	r.(?)	p.(Cys120Phe)	C120F	rs752153829	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_TR2_0121b	substitution	-	-	DNA	SEQ	exon	AKU_TR2_0121	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Wales	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_73a	substitution	-	-	DNA	SEQ	exon	AKU_DB_73	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_73b	substitution	-	-	DNA	SEQ	exon	AKU_DB_73	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_74a	substitution	-	-	DNA	SEQ	exon	AKU_DB_74	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_74b	substitution	-	-	DNA	SEQ	exon	AKU_DB_74	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_75a	substitution	-	-	DNA	SEQ	exon	AKU_DB_75	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_75b	substitution	-	-	DNA	SEQ	exon	AKU_DB_75	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_76a	substitution	-	-	DNA	SEQ	exon	AKU_DB_76	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_76b	substitution	-	-	DNA	SEQ	exon	AKU_DB_76	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_78a	substitution	-	-	DNA	SEQ	exon	AKU_DB_78	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_78b	substitution	-	-	DNA	SEQ	exon	AKU_DB_78	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_79a	substitution	-	-	DNA	SEQ	exon	AKU_DB_79	AKU	Goicoechea de Jorge et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Dominican republic	1	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, 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)