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.

216 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_00050	08	c.481G>A + c.457dupG	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_101b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_101	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.899T>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_102a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_102	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_104a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_104	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	4	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_104b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_104	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	4	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_104c	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_104	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	4	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_104d	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_104	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	4	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_105a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_105	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_105b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_105	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_106a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_106	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_106b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_106	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.470-1_470insA	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_110a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_110	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France/Bosnia	1	1
+/+	AKU_00050	08	c.481G>A + c.342+1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_41b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_41	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.157C>T	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_45b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_45	AKU	Rodriguez et al. (2000), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00050	08	c.481G>A + c.16-1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_53d	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_53	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	7	1
+/+	AKU_00050	08	c.481G>A + c.140C>T	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_57b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_57	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.457dupG	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_58b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_58	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.808G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_59a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_59	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.457dupG	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_61b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_61	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_62a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_62	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_62b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_62	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_63a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_63	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_63b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_63	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	2	1
+/+	AKU_00050	08	c.481G>A + c.808G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_67a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_67	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_81a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_81	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Poland	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_81b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_81	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Poland	1	1
+/+	AKU_00050	08	c.481G>A + c.533A>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_93a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_93	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.1102A>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_94a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_94	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.342+1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_MUL_1b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_MUL_1	AKU	Muller et al. (1999), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Czech republic	1	1
+/+	AKU_00050	08	c.481G>A + c.1102A>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_MUL_3b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_MUL_3	AKU	Muller et al. (1999), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Germany	1	1
+/+	AKU_00050	08	c.481G>A + c.16-1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_MUL_4a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_MUL_4	AKU	Muller et al. (1999), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Czech republic	1	1
+/+	AKU_00050	08	c.481G>A + c.16-1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_MUL_5b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_MUL_5	AKU	Muller et al. (1999), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Czech republic	1	1
+/+	AKU_00050	08	c.481G>A + c.(?)	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_MUL_6a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_MUL_6	AKU	Muller et al. (1999), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Czech republic	1	1
+/+	AKU_00050	08	c.481G>A + c.457dupG	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_14a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_14	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_15a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_15	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_15b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_15	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.1111dupC	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_17a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_17	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.175delA	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_19a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_19	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.899T>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_2a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_2	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_20a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_20	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_20b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_20	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_21a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_21	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_21b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_21	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.16-1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_3a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_3	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_8a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_8	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_8b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_8	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.1111dupC	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_SRS_9a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_SRS_9	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TOT_1a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TOT_1	AKU	Toth et al. (2010), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia/Hungary	3	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TOT_1b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TOT_1	AKU	Toth et al. (2010), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia/Hungary	3	1
+/+	AKU_00050	08	c.481G>A + c.1102A>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_VIL_12a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_VIL_12	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00050	08	c.481G>A + c.175delA	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_VIL_2b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_VIL_2	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00050	08	c.481G>A + c.559C>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_VIL_23a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_VIL_23	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00050	08	c.481G>A + c.457dupG	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_VIL_38b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_VIL_38	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_VIL_43a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_VIL_43	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_VIL_43b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_VIL_43	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+	AKU_00050	08	c.481G>A + c.962G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_VIL_53a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_VIL_53	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00050	08	c.481G>A + c.16-1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_VIL_57b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_VIL_57	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00050	08	c.481G>A + c.688C>T	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_VIL_79a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_VIL_79	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00050	08	c.481G>A + c.16-1G>A, c.1017_1019delGAGinsTA	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_VIL_94b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_VIL_94	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_ZAT_1a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_ZAT_1	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_ZAT_1b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_ZAT_1	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.808G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_115a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_115	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_127a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_127	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_127b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_127	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_128a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_128	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_128a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_128	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_135a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_135	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_135b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_135	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00050	08	c.481G>A + c.674G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_136a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_136	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00050	08	c.481G>A + c.175delA	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_137b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_137	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00050	08	c.481G>A + c.1111dupC	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_142b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_142	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00050	08	c.481G>A + c.1111dupC	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_149a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_149	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.808G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_150a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_150	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.1201G>C	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_165a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_165	AKU	Nemethova et al. (2016), Italy:Roma	Compound heterozygous	1	Italy	1	1
+/+	AKU_00050	08	c.481G>A + c.440T>C	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_180a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_180	AKU	Nemethova et al. (2016), France:Marseilles	Compound heterozygous	1	France	1	1
+/+	AKU_00050	08	c.481G>A + c.1102A>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_188a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_188	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Germany	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_190a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_190	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_190b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_190	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_161a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_161	AKU	Nemethova et al. (2016), Lithuania:Vilnius	Homozygot	1	Lithuania	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_161b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_161	AKU	Nemethova et al. (2016), Lithuania:Vilnius	Homozygot	1	Lithuania	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_162a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_162	AKU	Nemethova et al. (2016), Lithuania:Vilnius	Homozygot	1	Lithuania	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_162b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_162	AKU	Nemethova et al. (2016), Lithuania:Vilnius	Homozygot	1	Lithuania	1	1
+/+	AKU_00050	08	c.481G>A + c.500C>T	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR_0212a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR_0212	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00050	08	c.481G>A + c.125A>C	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_221b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_221	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00050	08	c.481G>A + c.454G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0257a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0257	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Austria	1	1
+/+	AKU_00050	08	c.481G>A + c.1115_1117del	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0127a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0127	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Poland	1	1
+/+	AKU_00050	08	c.481G>A + c.449C>T	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0105a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0105	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Sweeden	1	1
+/+	AKU_00050	08	c.481G>A + c.1037T>C	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0311b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0311	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	2	1
+/+	AKU_00050	08	c.481G>A + c.680T>C	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_235a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_235	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
+/+	AKU_00050	08	c.481G>A + c.440T>C	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0318a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0318	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_236a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_236	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_236b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_236	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	2	1
+/+	AKU_00050	08	c.481G>A + c.457dupG	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_241a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_241	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0107a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0107	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Denmark	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0107b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0107	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Denmark	1	1
+/+	AKU_00050	08	c.481G>A + c.16-1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0110a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0110	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Poland	1	1
+/+	AKU_00050	08	c.481G>A + c.16-1G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0114a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0114	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Serbia	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0120a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0120	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Romania	2	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0120b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0120	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Romania	2	1
+/+	AKU_00050	08	c.481G>A + c.1102A>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0140b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0140	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Poland	1	1
+/+	AKU_00050	08	c.481G>A + c.481G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TR2_0202a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR2_0202	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	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)