Full database search - HGD mutation database - Leiden Open Variation Database

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The variants below are all in the HGD database, matching your query. 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.

42 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_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

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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)