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_00221	10	c.753C>T + c.753C>T	r.(?)	p.(Gly251Gly)	G251G	rs1357020990	silent/aberrant splicing (creating novel DS)	-	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_299b	substitution	?	-	DNA	SEQ	exon	AKU_DB_299	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/?	AKU_00221	10	c.753C>T + c.753C>T	r.(?)	p.(Gly251Gly)	G251G	rs1357020990	silent/aberrant splicing (creating novel DS)	-	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_305a	substitution	?	-	DNA	SEQ	exon	AKU_DB_305	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/?	AKU_00221	10	c.753C>T + c.753C>T	r.(?)	p.(Gly251Gly)	G251G	rs1357020990	silent/aberrant splicing (creating novel DS)	-	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_305b	substitution	?	-	DNA	SEQ	exon	AKU_DB_305	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/?	AKU_00221	10	c.753C>T + c.481G>A	r.(?)	p.(Gly251Gly)	G251G	rs1357020990	silent/aberrant splicing (creating novel DS)	-	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_313b	substitution	?	-	DNA	SEQ	exon	AKU_DB_313	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/?	AKU_00221	10	c.753C>T + c.481G>A	r.(?)	p.(Gly251Gly)	G251G	rs1357020990	silent/aberrant splicing (creating novel DS)	-	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_326b	substitution	?	-	DNA	SEQ	exon	AKU_DB_326	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/?	AKU_00221	10	c.753C>T + c.481G>A	r.(?)	p.(Gly251Gly)	G251G	rs1357020990	silent/aberrant splicing (creating novel DS)	-	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_367b	substitution	?	-	DNA	SEQ	exon	AKU_DB_367	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/?	AKU_00221	10	c.753C>T + c.481G>A	r.(?)	p.(Gly251Gly)	G251G	rs1357020990	silent/aberrant splicing (creating novel DS)	-	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_368b	substitution	?	-	DNA	SEQ	exon	AKU_DB_368	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/?	AKU_00221	10	c.753C>T + c.1102A>G	r.(?)	p.(Gly251Gly)	G251G	rs1357020990	silent/aberrant splicing (creating novel DS)	-	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_408a	substitution	?	-	DNA	SEQ	exon	AKU_DB_408	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+?	AKU_00077	10	c.773A>C + c.1336T>C	r.(?)	p.(Gln258Pro)	Q258P	rs759843592	missense	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_VIL_44a	substitution	(+)MspI, HpaII, BsaWI	-	DNA	SEQ	exon	AKU_VIL_44	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00077	10	c.773A>C + c.8A>C, c.914C>T	r.(?)	p.(Gln258Pro)	Q258P	rs759843592	missense	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_VIL_93b	substitution	(+)MspI, HpaII, BsaWI	-	DNA	SEQ	exon	AKU_VIL_93	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00188	10i	c.774+1G>T + c.995C>G	r.(?)	p.(Ala218Cysfs*32)	ivs10+1G>T	-	aberrant splicing (DS)/exon skipping/frameshift?	-	Ascher et al. (2019)	-	AKU_TR2_0324a	substitution	?	-	DNA	SEQ	intron	AKU_TR2_0324	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Belgium	1	1
+/+?	AKU_00216	10i	c.774+69C>T + c.164_166del	r.(spl?)	p.(?)	ivs10+69C>T	rs1399212408	abberant splicing/ creates a CR donor splice site within in 10 (predicted)	-	Leon Sanabria and Zarante Bahamon (2026)	-	AKU_DB_469a	substitution	-	-	DNA	SEQ	exon	AKU_DB_469	AKU	Leon Sanabria and Zarante Bahamon (2026), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Colombia	1	1
+/+?	AKU_00216	10i	c.774+69C>T + c.808G>A	r.(?)	p.(?)	ivs10+69C>T	rs1399212408	abberant splicing/ creates a CR donor splice site within in 10 (predicted)	-	Leon Sanabria and Zarante Bahamon (2026)	-	AKU_DB_470b	substitution	-	-	DNA	SEQ	exon	AKU_DB_470	AKU	Leon Sanabria and Zarante Bahamon (2026), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Colombia	1	1
+/+?	AKU_00253	10i	c.775-16T>A + c.775-16T>A	r.(?)	p.(?)	ivs10-16T>A	rs995182027	aberrant splicing, creates novel (AS)/frameshift?	-	Danda et al. (2020)	-	AKU_DB_383a	substitution	-	-	DNA	SEQ	intron	AKU_DB_383	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	2	1
+/+?	AKU_00253	10i	c.775-16T>A + c.775-16T>A	r.(?)	p.(?)	ivs10-16T>A	rs995182027	aberrant splicing, creates novel (AS)/frameshift?	-	Danda et al. (2020)	-	AKU_DB_383b	substitution	-	-	DNA	SEQ	intron	AKU_DB_383	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	2	1
+/?	AKU_00229	10	c.791A>G + c.688C>T	r.(?)	p.(Asn264Ser)	N264S	rs1469714335	missense	Protomer destabilisation	Soltysova et al. (2021)	-	AKU_DB_316b	substitution	?	-	DNA	SEQ	exon	AKU_DB_316	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/?	AKU_00213	11	c.775-1915_879+1293del + c.16-1G>A, c.16-1G>A	r.(?)	p.(Val260_Asp294del)	ex11 del	-	deletion	-	Ascher et al. (2019)	-	AKU_TR2_0119c	deletion	-	-	DNA	SEQ, MLPA	intron/exon	AKU_TR2_0119	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
+/?	AKU_00213	11	c.775-1915_879+1293del + c.775-1915_879+1293del	r.(?)	p.(Val260_Asp294del)	ex11 del	-	deletion	-	Ascher et al. (2019)	-	AKU_DB_445a	deletion	-	-	DNA	SEQ, MLPA	intron/exon	AKU_DB_445	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/?	AKU_00213	11	c.775-1915_879+1293del + c.775-1915_879+1293del	r.(?)	p.(Val260_Asp294del)	ex11 del	-	deletion	-	Ascher et al. (2019)	-	AKU_DB_445b	deletion	-	-	DNA	SEQ, MLPA	intron/exon	AKU_DB_445	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+?	AKU_00209	11	c.787T>C + c.787T>C	r.(?)	p.(Phe263Leu)	F263L	rs2472681763	missense	Protomer destabilisation	submitted, Dr. Jeannette Usher	-	AKU_DB_264a	substitution	(-)SfaNI	-	DNA	SEQ	exon	AKU_DB_264	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+?	AKU_00209	11	c.787T>C + c.787T>C	r.(?)	p.(Phe263Leu)	F263L	rs2472681763	missense	Protomer destabilisation	submitted, Dr. Jeannette Usher	-	AKU_DB_264b	substitution	(-)SfaNI	-	DNA	SEQ	exon	AKU_DB_264	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00179	11	c.800C>T + c.800C>T	r.(?)	p.(Ala267Val)	A267V	rs2472681649	missense	Protomer destabilisation, Hexamer disruption	Ascher et al. (2019)	-	AKU_TR2_0137a	substitution	?	-	DNA	SEQ	exon	AKU_TR2_0137	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	France	1	1
+/+	AKU_00179	11	c.800C>T + c.800C>T	r.(?)	p.(Ala267Val)	A267V	rs2472681649	missense	Protomer destabilisation, Hexamer disruption	Ascher et al. (2019)	-	AKU_TR2_0137b	substitution	?	-	DNA	SEQ	exon	AKU_TR2_0137	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	France	1	1
+/+?	AKU_00078	11	c.806A>G + c.502G>A	r.(?)	p.(His269Arg)	H269R	rs756522409	missense	Protomer destabilisation, Hexamer disruption	Vilboux et al. (2009)	-	AKU_VIL_96b	substitution	(+)FauI, HinP1I, HhaI, AciI	-	DNA	SEQ	exon	AKU_VIL_96	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00079	11	c.808G>A + c.1102A>G	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_109a	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_109	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France/Armenia	1	1
+/+?	AKU_00079	11	c.808G>A + c.808G>A	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_29a	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_29	AKU	Porfirio et al. (2000), Italy:Florence	Homozygot	1	Italy	1	1
+/+?	AKU_00079	11	c.808G>A + c.808G>A	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_29b	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_29	AKU	Porfirio et al. (2000), Italy:Florence	Homozygot	1	Italy	1	1
+/+?	AKU_00079	11	c.808G>A + c.1111dupC	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_52a	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_52	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+?	AKU_00079	11	c.808G>A + c.1111dupC	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_53a	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_53	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	7	1
+/+?	AKU_00079	11	c.808G>A + c.481G>A	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_59b	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_59	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+?	AKU_00079	11	c.808G>A + c.457dupG	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_61c	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_61	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+?	AKU_00079	11	c.808G>A + c.175delA	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_66b	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_66	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+?	AKU_00079	11	c.808G>A + c.481G>A	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_67b	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_67	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+?	AKU_00079	11	c.808G>A + c.808G>A	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_77a	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_77	AKU	Goicoechea de Jorge et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Dominican republic	1	1
+/+?	AKU_00079	11	c.808G>A + c.808G>A	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_77b	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_77	AKU	Goicoechea de Jorge et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Dominican republic	1	1
+/+?	AKU_00079	11	c.808G>A + c.808G>A	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_91a	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_91	AKU	Uyguner et al. (2003), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Turkey	1	1
+/+?	AKU_00079	11	c.808G>A + c.808G>A	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_91b	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_91	AKU	Uyguner et al. (2003), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Turkey	1	1
+/+?	AKU_00079	11	c.808G>A + c.1111dupC	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_SRS_4a	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_SRS_4	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+?	AKU_00079	11	c.808G>A + c.808G>A	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_VIL_10a	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_VIL_10	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+?	AKU_00079	11	c.808G>A + c.808G>A	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_VIL_10b	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_VIL_10	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+?	AKU_00079	11	c.808G>A + c.481G>A	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_115b	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_115	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+?	AKU_00079	11	c.808G>A + c.1120G>C	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_125a	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_125	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00079	11	c.808G>A + c.1111dupC	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_67b	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_67	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+?	AKU_00079	11	c.808G>A + c.557T>A	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_148a	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_148	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Brasil	1	1
+/+?	AKU_00079	11	c.808G>A + c.481G>A	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_150b	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_150	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+?	AKU_00079	11	c.808G>A + c.457dupG	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_237a	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_237	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+?	AKU_00079	11	c.808G>A + c.1-8460_282+6727del	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_TR3_0122a	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_TR3_0122	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Germany/Peru	1	1
+/+?	AKU_00079	11	c.808G>A + c.688C>T	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_TR2_0322b	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_TR2_0322	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France/Italy	2	1
+/+?	AKU_00079	11	c.808G>A + c.481G>A	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_TR2_0209b	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_TR2_0209	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+?	AKU_00079	11	c.808G>A + c.174A>T	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_307a	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_307	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+?	AKU_00079	11	c.808G>A + c.808G>A	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_343a	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_343	AKU	Kilavuz et al. 2018, Turkey:Adana	Homozygot	1	Turkey	1	1
+/+?	AKU_00079	11	c.808G>A + c.808G>A	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_343b	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_343	AKU	Kilavuz et al. 2018, Turkey:Adana	Homozygot	1	Turkey	1	1
+/+?	AKU_00079	11	c.808G>A + c.175delA	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_TU_07c	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_TU_07	AKU	Kisa et al. (2021), Turkey:Izmir	Compound heterozygous	1	Turkey	1	1
+/+?	AKU_00079	11	c.808G>A + c.175delA	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_TU_11b	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_TU_11	AKU	Kisa et al. (2021), Turkey:Izmir	Compound heterozygous	1	Turkey	1	1
+/+?	AKU_00079	11	c.808G>A + c.808G>A	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_TU_12a	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_TU_12	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+?	AKU_00079	11	c.808G>A + c.808G>A	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_TU_12b	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_TU_12	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+?	AKU_00079	11	c.808G>A + c.334T>G	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_TU_29b	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_TU_29	AKU	Kisa et al. (2021), Turkey:Izmir	Compound heterozygous	1	Turkey	1	1
+/+?	AKU_00079	11	c.808G>A + c.347T>C	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_392b	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_392	AKU	Danda et al. (2020), India:Vellore	Compound heterozygous	1	India	1	1
+/+?	AKU_00079	11	c.808G>A + c.469G>T	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_405b	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_405	AKU	Danda et al. (2020), India:Vellore	Compound heterozygous	1	India	1	1
+/+?	AKU_00079	11	c.808G>A + c.175delA	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_432b	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_432	AKU	submitted, Dr. Pelin Teke Kisa, Turkey:Izmir	Compound heterozygous	1	Turkey	1	1
+/+?	AKU_00079	11	c.808G>A + c.808G>A	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_437a	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_437	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+?	AKU_00079	11	c.808G>A + c.808G>A	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_437b	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_437	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+?	AKU_00079	11	c.808G>A + c.1078G>C	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_TR3_0126a	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_TR3_0126	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Latvia	1	1
+/+?	AKU_00079	11	c.808G>A + c.588delC	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_TR3_0127a	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_TR3_0127	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Portugal	1	1
+/+?	AKU_00079	11	c.808G>A + c.808G>A	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_441a	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_441	AKU	Abdelkhalek et al. (2023), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Egypt	1	1
+/+?	AKU_00079	11	c.808G>A + c.808G>A	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_441b	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_441	AKU	Abdelkhalek et al. (2023), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Egypt	1	1
+/+?	AKU_00079	11	c.808G>A + c.1111dupC	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_448b	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_448	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+?	AKU_00079	11	c.808G>A + c.774+69C>T	r.(?)	p.(Gly270Arg)	G270R	rs120074174	missense	Protomer destabilisation, Hexamer disruption	Muller et al. (1999)	CCC triplet, CpG	AKU_DB_470a	substitution	(+)EcoNI	-	DNA	SEQ	exon	AKU_DB_470	AKU	Leon Sanabria and Zarante Bahamon (2026), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Colombia	1	1
+/+?	AKU_00263	11	c.815A>G + c.815A>G	r.(?)	p.(Tyr272Cys)	Y272C	rs2472681502	missense	-	submitted, Dr. Andrea Zatkova	-	AKU_DB_438a	substitution	?	-	DNA	SEQ	exon	AKU_DB_437	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+?	AKU_00263	11	c.815A>G + c.815A>G	r.(?)	p.(Tyr272Cys)	Y272C	rs2472681502	missense	-	submitted, Dr. Andrea Zatkova	-	AKU_DB_438b	substitution	?	-	DNA	SEQ	exon	AKU_DB_437	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+?	AKU_00105	11	c.821C>T + c.473C>T	r.(?)	p.(Pro274Leu)	P274L	rs1397264922	missense	Protomer destabilisation	Gucev et al. (2011)	CCC triplet	AKU_DB_116b	substitution	-	-	DNA	SEQ	exon	AKU_DB_116	AKU	Gucev et al. (2011), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Macedonia	1	1
+/+?	AKU_00105	11	c.821C>T + c.821C>T	r.(?)	p.(Pro274Leu)	P274L	rs1397264922	missense	Protomer destabilisation	Gucev et al. (2011)	CCC triplet	AKU_DB_141a	substitution	-	-	DNA	SEQ	exon	AKU_DB_141	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	The Netherlands	1	1
+/+?	AKU_00105	11	c.821C>T + c.821C>T	r.(?)	p.(Pro274Leu)	P274L	rs1397264922	missense	Protomer destabilisation	Gucev et al. (2011)	CCC triplet	AKU_DB_141b	substitution	-	-	DNA	SEQ	exon	AKU_DB_141	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	The Netherlands	1	1
+/+?	AKU_00105	11	c.821C>T + c.821C>T	r.(?)	p.(Pro274Leu)	P274L	rs1397264922	missense	Protomer destabilisation	Gucev et al. (2011)	CCC triplet	AKU_DB_308a	substitution	-	-	DNA	SEQ	exon	AKU_DB_308	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	2	1
+/+?	AKU_00105	11	c.821C>T + c.821C>T	r.(?)	p.(Pro274Leu)	P274L	rs1397264922	missense	Protomer destabilisation	Gucev et al. (2011)	CCC triplet	AKU_DB_308b	substitution	-	-	DNA	SEQ	exon	AKU_DB_308	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	2	1
+/+?	AKU_00105	11	c.821C>T + c.821C>T	r.(?)	p.(Pro274Leu)	P274L	rs1397264922	missense	Protomer destabilisation	Gucev et al. (2011)	CCC triplet	AKU_DB_360a	substitution	-	-	DNA	SEQ	exon	AKU_DB_360	AKU	Akbaba et al. 2020, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Turkey	1	1
+/+?	AKU_00105	11	c.821C>T + c.821C>T	r.(?)	p.(Pro274Leu)	P274L	rs1397264922	missense	Protomer destabilisation	Gucev et al. (2011)	CCC triplet	AKU_DB_360b	substitution	-	-	DNA	SEQ	exon	AKU_DB_360	AKU	Akbaba et al. 2020, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Turkey	1	1
+/+?	AKU_00142	11	c.828G>C + c.1081G>A	r.(?)	p.(Lys276Asn)	K276N	rs1160502581	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_121a	substitution	(-)RsaI	-	DNA	SEQ	exon	AKU_DB_121	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00142	11	c.828G>C + c.828G>C	r.(?)	p.(Lys276Asn)	K276N	rs1160502581	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_206a	substitution	(-)RsaI	-	DNA	SEQ	exon	AKU_DB_206	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+?	AKU_00142	11	c.828G>C + c.828G>C	r.(?)	p.(Lys276Asn)	K276N	rs1160502581	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_206b	substitution	(-)RsaI	-	DNA	SEQ	exon	AKU_DB_206	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
-/?	AKU_00123	11	c.832A>G	r.(?)	p.(Asn278Asp)	N278D	rs370920635	missense/polymorphism?, found in one normal chromosome	Protomer destabilisation	AKU database	-	AKU_POL_17	substitution	-	-	DNA	SEQ	exon	AKU_POL_17	-	AKU database, Slovakia (Slovak Republic):Bratislava	-	1	Slovakia	1	1
+/+?	AKU_00076	11	c.859_860delinsAT + c.859_860delinsAT	r.(?)	p.(Ser287Ile)	S287I	-	del/ins	-	submitted, Dr. Andrea Zatkova	-	AKU_DB_456a	substitution	-	-	DNA	SEQ	exon	AKU_DB_456	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+?	AKU_00076	11	c.859_860delinsAT + c.859_860delinsAT	r.(?)	p.(Ser287Ile)	S287I	-	del/ins	-	submitted, Dr. Andrea Zatkova	-	AKU_DB_456b	substitution	-	-	DNA	SEQ	exon	AKU_DB_456	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00080	11	c.860C>A + c.130C>T	r.(?)	p.(Ser287*)	S287*	rs2472681060	nonsense	-	Zatkova et al. (2012)	-	AKU_DB_108a	substitution	(-)TspRI	-	DNA	SEQ	exon	AKU_DB_108	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Algeria	2	1
+/+	AKU_00080	11	c.860C>A + c.860C>A	r.(?)	p.(Ser287*)	S287*	rs2472681060	nonsense	-	Zatkova et al. (2012)	-	AKU_DB_108a	substitution	(-)TspRI	-	DNA	SEQ	exon	AKU_DB_108	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Algeria	2	1
+/+	AKU_00080	11	c.860C>A + c.860C>A	r.(?)	p.(Ser287*)	S287*	rs2472681060	nonsense	-	Zatkova et al. (2012)	-	AKU_DB_108b	substitution	(-)TspRI	-	DNA	SEQ	exon	AKU_DB_108	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Algeria	2	1
+/+	AKU_00081	11	c.873C>A + c.(?)	r.(?)	p.(Asp291Glu)	D291E	rs754428438	missense	Hexamer disruption	de Bernabe et al. (1999a)	-	AKU_DB_21a	substitution	(+)NspI	-	DNA	SEQ	exon	AKU_DB_21	AKU	de Bernabe et al. (1999a), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Spain	1	1
+/+	AKU_00081	11	c.873C>A + c.873C>A	r.(?)	p.(Asp291Glu)	D291E	rs754428438	missense	Hexamer disruption	de Bernabe et al. (1999a)	-	AKU_DB_72a	substitution	(+)NspI	-	DNA	SEQ	exon	AKU_DB_72	AKU	AKU database, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Portugal	1	1
+/+	AKU_00081	11	c.873C>A + c.873C>A	r.(?)	p.(Asp291Glu)	D291E	rs754428438	missense	Hexamer disruption	de Bernabe et al. (1999a)	-	AKU_DB_72b	substitution	(+)NspI	-	DNA	SEQ	exon	AKU_DB_72	AKU	AKU database, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Portugal	1	1
+/+?	AKU_00082	11	c.875A>G + c.458A>G	r.(?)	p.(His292Arg)	H292R	rs2472681003	missense	Protomer destabilisation, Hexamer disruption	Rodriguez et al. (2000)	-	AKU_DB_33a	substitution	(+)BsgI; (-)NlaIII	-	DNA	SEQ	exon	AKU_DB_33	AKU	Rodriguez et al. (2000), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	1	1
-?/?	AKU_00122	11i	c.879+18A>G	r.(?)	p.(?)	ivs11+18A>G	rs1800700	polymorphism	-	de Bernabe et al. (1999b)	-	AKU_POL_16	substitution	-	0,02(G)	DNA	SEQ	intron	AKU_POL_16	-	de Bernabe et al. (1999b), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
+/+	AKU_00083	12	c.899T>G + c.481G>A	r.(?)	p.(Val300Gly)	V300G	rs120074170	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	-	AKU_DB_102b	substitution	-	-	DNA	SEQ	exon	AKU_DB_102	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00083	12	c.899T>G + c.688C>T	r.(?)	p.(Val300Gly)	V300G	rs120074170	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	-	AKU_DB_2b	substitution	-	-	DNA	SEQ	exon	AKU_DB_2	AKU	Fernandez Canon et al. (1996), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Spain	3	1
+/+	AKU_00083	12	c.899T>G + c.1102A>G	r.(?)	p.(Val300Gly)	V300G	rs120074170	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	-	AKU_DB_5a	substitution	-	-	DNA	SEQ	exon	AKU_DB_5	AKU	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	3	1
+/+	AKU_00083	12	c.899T>G + c.457dupG	r.(?)	p.(Val300Gly)	V300G	rs120074170	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	-	AKU_DB_50b	substitution	-	-	DNA	SEQ	exon	AKU_DB_50	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00083	12	c.899T>G + c.899T>G	r.(?)	p.(Val300Gly)	V300G	rs120074170	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	-	AKU_DB_6a	substitution	-	-	DNA	SEQ	exon	AKU_DB_6	AKU	Fernandez Canon et al. (1996), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Germany	1	1
+/+	AKU_00083	12	c.899T>G + c.899T>G	r.(?)	p.(Val300Gly)	V300G	rs120074170	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	-	AKU_DB_6b	substitution	-	-	DNA	SEQ	exon	AKU_DB_6	AKU	Fernandez Canon et al. (1996), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Germany	1	1
+/+	AKU_00083	12	c.899T>G + c.899T>G	r.(?)	p.(Val300Gly)	V300G	rs120074170	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	-	AKU_DB_84a	substitution	-	-	DNA	SEQ	exon	AKU_DB_84	AKU	AKU database, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Portugal	1	1
+/+	AKU_00083	12	c.899T>G + c.899T>G	r.(?)	p.(Val300Gly)	V300G	rs120074170	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	-	AKU_DB_84b	substitution	-	-	DNA	SEQ	exon	AKU_DB_84	AKU	AKU database, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Portugal	1	1
+/+	AKU_00083	12	c.899T>G + c.16-1G>A	r.(?)	p.(Val300Gly)	V300G	rs120074170	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	-	AKU_SRS_13a	substitution	-	-	DNA	SEQ	exon	AKU_SRS_13	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1

1101 - 1200
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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)