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.

1451 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_00050	08	c.481G>A + c.1188+1G>T	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_317a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_317	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	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_319a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_319	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.1007-2A>T	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_320a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_320	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	2	1
+/+	AKU_00050	08	c.481G>A + c.458A>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_321a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_321	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	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_322a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_322	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_322b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_322	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_323a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_323	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.1081G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_324a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_324	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	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_325a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_325	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.753C>T	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_326a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_326	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	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_328a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_328	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_DB_328b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_328	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	3	1
+/+	AKU_00050	08	c.481G>A + c.131T>C	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_330a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_330	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.127C>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_331a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_331	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.536T>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_333a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_333	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.413G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_334a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_334	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.1114G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_335a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_335	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.1A>G	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_336a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_336	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	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_354a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_354	AKU	Akbaba et al. 2020, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Turkey	1	1
+/+	AKU_00050	08	c.481G>A + c.946G>A	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_357a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_357	AKU	Akbaba et al. 2020, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Turkey	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_366a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_366	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_366b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_366	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.753C>T	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_367a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_367	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.753C>T	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_368a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_368	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	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_369a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_369	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_369b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_369	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_370a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_370	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	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_371a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_371	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_371b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_371	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_372a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_372	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	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_373a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_373	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_373b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_373	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_374a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_374	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_374b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_374	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_375a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_375	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_375b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_375	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_376a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_376	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_376b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_376	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_377a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_377	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_377b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_377	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.131T>C	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_378a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_378	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	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_TU_33a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TU_33	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	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_TU_33b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TU_33	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00050	08	c.481G>A + c.1115_1117delGAC	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_TU_37a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TU_37	AKU	Kisa et al. (2021), Turkey:Izmir	Compound heterozygous	1	Turkey	1	1
+/+	AKU_00050	08	c.481G>A + c.(?)	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_409a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_409	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.(?)	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_410a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_410	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.(?)	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_411a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_411	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.(?)	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_412a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_412	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.(?)	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_413a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_413	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.(?)	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_414a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_414	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.(?)	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_415a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_415	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.(?)	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_416a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_416	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.(?)	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_417a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_417	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.(?)	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_418a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_418	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00050	08	c.481G>A + c.(?)	r.(?)	p.(Gly161Arg)	G161R	rs28941783	missense	Protomer destabilisation	Gehrig et al. (1997)	CCC triplet	AKU_DB_419a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_419	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	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_426a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_426	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_426b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_426	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_427a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_427	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_427b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_427	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_428a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_428	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_428b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_428	AKU	Bychkov et al. (2021), Russia:Moscow	Homozygot	1	Russia	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_429a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_DB_429	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	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_TR3_0123a	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR3_0123	AKU	Ascher et al. (2019), 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_TR3_0123b	substitution	(-)BslI	-	DNA	SEQ	exon	AKU_TR3_0123	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Poland	1	1
+/+?	AKU_00161	08	c.500C>T + c.481G>A	r.(?)	p.(Thr167Ile)	T167I	-	missense	Hexamer disruption	Nemethova et al. (2016)	-	AKU_TR_0212b	substitution	-	-	DNA	SEQ	exon	AKU_TR_0212	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+?	AKU_00051	08	c.502G>A + c.502G>A	r.(?)	p.(Glu168Lys)	E168K	rs375283568	missense	Hexamer disruption	Higashino et al. (1998)	CpG	AKU_HIG_1a	substitution	-	-	DNA	SEQ	exon	AKU_HIG_1	AKU	Higashino et al. (1998), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Japan	1	1
+/+?	AKU_00051	08	c.502G>A + c.502G>A	r.(?)	p.(Glu168Lys)	E168K	rs375283568	missense	Hexamer disruption	Higashino et al. (1998)	CpG	AKU_HIG_1b	substitution	-	-	DNA	SEQ	exon	AKU_HIG_1	AKU	Higashino et al. (1998), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Japan	1	1
+/+?	AKU_00051	08	c.502G>A + c.502G>A	r.(?)	p.(Glu168Lys)	E168K	rs375283568	missense	Hexamer disruption	Higashino et al. (1998)	CpG	AKU_VIL_7a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_7	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+?	AKU_00051	08	c.502G>A + c.502G>A	r.(?)	p.(Glu168Lys)	E168K	rs375283568	missense	Hexamer disruption	Higashino et al. (1998)	CpG	AKU_VIL_7b	substitution	-	-	DNA	SEQ	exon	AKU_VIL_7	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+?	AKU_00051	08	c.502G>A + c.502G>A	r.(?)	p.(Glu168Lys)	E168K	rs375283568	missense	Hexamer disruption	Higashino et al. (1998)	CpG	AKU_VIL_89a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_89	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+?	AKU_00051	08	c.502G>A + c.502G>A	r.(?)	p.(Glu168Lys)	E168K	rs375283568	missense	Hexamer disruption	Higashino et al. (1998)	CpG	AKU_VIL_89b	substitution	-	-	DNA	SEQ	exon	AKU_VIL_89	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+?	AKU_00051	08	c.502G>A + c.806A>G	r.(?)	p.(Glu168Lys)	E168K	rs375283568	missense	Hexamer disruption	Higashino et al. (1998)	CpG	AKU_VIL_96b	substitution	-	-	DNA	SEQ	exon	AKU_VIL_96	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00051	08	c.502G>A + c.659G>T	r.(?)	p.(Glu168Lys)	E168K	rs375283568	missense	Hexamer disruption	Higashino et al. (1998)	CpG	AKU_DB_268a	substitution	-	-	DNA	SEQ	exon	AKU_DB_268	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00051	08	c.502G>A + c.502G>A	r.(?)	p.(Glu168Lys)	E168K	rs375283568	missense	Hexamer disruption	Higashino et al. (1998)	CpG	AKU_TR2_0103a	substitution	-	-	DNA	SEQ	exon	AKU_TR2_0103	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Netherland	2	1
+/+?	AKU_00051	08	c.502G>A + c.502G>A	r.(?)	p.(Glu168Lys)	E168K	rs375283568	missense	Hexamer disruption	Higashino et al. (1998)	CpG	AKU_TR2_0103b	substitution	-	-	DNA	SEQ	exon	AKU_TR2_0103	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Netherland	2	1
+/+	AKU_00052	08	c.502G>T + c.447T>A, c.1007-2A>T	r.(?)	p.(Glu168*)	E168*	-	nonsense	-	Vilboux et al. (2009)	CpG	AKU_VIL_36b	substitution	(+)BfaI	-	DNA	SEQ	exon	AKU_VIL_36	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00208	08	c.502G>T + c.1007-2A>T	r.(?)	p.(Glu168*)	E168*	-	nonsense	-	submitted, Dr. Jeannette Usher	-	AKU_DB_258a	substitution	-	-	DNA	SEQ	exon	AKU_DB_258	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00053	08	c.504G>C + c.504G>C	r.(?)	p.(Glu168Asp)	E168D	rs780173554	missense	Protomer destabilisation, Hexamer disruption	Phornphutkul et al. (2002)	CpG	AKU_VIL_45a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_45	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA/India	1	1
+/+?	AKU_00053	08	c.504G>C + c.504G>C	r.(?)	p.(Glu168Asp)	E168D	rs780173554	missense	Protomer destabilisation, Hexamer disruption	Phornphutkul et al. (2002)	CpG	AKU_VIL_45b	substitution	-	-	DNA	SEQ	exon	AKU_VIL_45	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA/India	1	1
+/+?	AKU_00053	08	c.504G>C + c.504G>C	r.(?)	p.(Glu168Asp)	E168D	rs780173554	missense	Protomer destabilisation, Hexamer disruption	Phornphutkul et al. (2002)	CpG	AKU_VIL_83a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_83	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA/India	1	1
+/+?	AKU_00053	08	c.504G>C + c.504G>C	r.(?)	p.(Glu168Asp)	E168D	rs780173554	missense	Protomer destabilisation, Hexamer disruption	Phornphutkul et al. (2002)	CpG	AKU_VIL_83b	substitution	-	-	DNA	SEQ	exon	AKU_VIL_83	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA/India	1	1
+/+?	AKU_00053	08	c.504G>C + c.504G>C	r.(?)	p.(Glu168Asp)	E168D	rs780173554	missense	Protomer destabilisation, Hexamer disruption	Phornphutkul et al. (2002)	CpG	AKU_DB_394a	substitution	-	-	DNA	SEQ	exon	AKU_DB_394	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+?	AKU_00053	08	c.504G>C + c.504G>C	r.(?)	p.(Glu168Asp)	E168D	rs780173554	missense	Protomer destabilisation, Hexamer disruption	Phornphutkul et al. (2002)	CpG	AKU_DB_394b	substitution	-	-	DNA	SEQ	exon	AKU_DB_394	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
-?/?	AKU_00144	08	c.507T>G + c.469+2T>C, c.649+31G>A	r.(?)	p.(Phe169Leu)	F169L	rs756134838	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_122b	substitution	-	-	DNA	SEQ	exon	AKU_DB_122	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/?	AKU_00195	08	c.508G>A + c.52G>T	r.(?)	p.(Gly170Ser)	G170S	-	missense	Protomer destabilisation, Hexamer disruption	Ascher et al. (2019)	-	AKU_DB_231b	substitution	-	-	DNA	SEQ	exon	AKU_DB_231	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
+/+	AKU_00187	08	c.509G>C + c.647T>C	r.(?)	p.(Gly170Ala)	G170A	-	missense	-	Ascher et al. (2019)	-	AKU_TR2_0331b	substitution	?	-	DNA	SEQ	exon	AKU_TR2_0331	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Algeria/Spain	1	1
+/+?	AKU_00054	08	c.513G>T + c.513G>T	r.(?)	p.(Lys171Asn)	K171N	-	missense	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_DB_212a	substitution	(-)SfaNI	-	DNA	SEQ	exon	AKU_DB_212	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+?	AKU_00054	08	c.513G>T + c.513G>T	r.(?)	p.(Lys171Asn)	K171N	-	missense	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_DB_212b	substitution	(-)SfaNI	-	DNA	SEQ	exon	AKU_DB_212	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+?	AKU_00054	08	c.513G>T + c.513G>T	r.(?)	p.(Lys171Asn)	K171N	-	missense	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_DB_272b	substitution	(-)SfaNI	-	DNA	SEQ	exon	AKU_DB_272	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+?	AKU_00054	08	c.513G>T + c.513G>T	r.(?)	p.(Lys171Asn)	K171N	-	missense	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_DB_272a	substitution	(-)SfaNI	-	DNA	SEQ	exon	AKU_DB_272	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+?	AKU_00054	08	c.513G>Y (C,T)	r.(?)	p.(Lys171Asn)	K171N	-	missense; exact nt change was not indicated and not reconstructible	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_PHO_16	substitution	(-)SfaNI	-	DNA	SEQ	exon	AKU_PHO_16	AKU	Phornphutkul et al. (2002), Slovakia (Slovak Republic):Bratislava	?	1	USA	1	1
+/+?	AKU_00169	08	c.515T>C + c.158G>A	r.(?)	p.(Met172Thr)	M172T	-	missense	Protomer destabilisation	Usher et al. (2015)	-	AKU_DB_207a	substitution	(+)HgaI;(-)SfaNI	-	DNA	SEQ	exon	AKU_DB_207	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00056	08	c.533A>G + c.481G>A	r.(?)	p.(Glu178Gly)	E178G	-	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_93b	substitution	(+)AlwI; (-)BglII	-	DNA	SEQ	exon	AKU_DB_93	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+?	AKU_00056	08	c.533A>G + c.481G>A	r.(?)	p.(Glu178Gly)	E178G	-	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_TR2_0223b	substitution	(+)AlwI; (-)BglII	-	DNA	SEQ	exon	AKU_TR2_0223	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Hungary	1	1
+/+?	AKU_00056	08	c.533A>G + c.1006+2T>A	r.(?)	p.(Glu178Gly)	E178G	-	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_447a	substitution	(+)AlwI; (-)BglII	-	DNA	NGS	exon	AKU_DB_447	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Germany	1	1
+/+?	AKU_00055	08	c.534G>Y (C,T)	r.(?)	p.(Glu178Asp)	E178D	-	missense; exact nt change was not indicated and not reconstructible	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_PHO_17	substitution	-	-	DNA	SEQ	exon	AKU_PHO_17	AKU	Phornphutkul et al. (2002), Slovakia (Slovak Republic):Bratislava	?	1	USA	1	1
+/?	AKU_00231	08	c.536T>G + c.481G>A	r.(?)	p.(Ile179Ser)	I179S	rs1031569954	missense	Protomer destabilisation	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_333b	substitution	?	-	DNA	SEQ	exon	AKU_DB_333	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+?	AKU_00057	08	c.541G>T + c.541G>T	r.(?)	p.(Val181Phe)	V181F	-	missense	Protomer destabilisation	Rodriguez et al. (2000)	CpG	AKU_DB_44a	substitution	(-)HgaI	-	DNA	SEQ	exon	AKU_DB_44	AKU	Rodriguez et al. (2000), Slovakia (Slovak Republic):Bratislava	Homozygot	1	France	1	1
+/+?	AKU_00057	08	c.541G>T + c.541G>T	r.(?)	p.(Val181Phe)	V181F	-	missense	Protomer destabilisation	Rodriguez et al. (2000)	CpG	AKU_DB_44b	substitution	(-)HgaI	-	DNA	SEQ	exon	AKU_DB_44	AKU	Rodriguez et al. (2000), Slovakia (Slovak Republic):Bratislava	Homozygot	1	France	1	1
+/+?	AKU_00058	08	c.549G>T + c.1102A>G	r.(?)	p.(Gln183Arg)	Q183R	rs759615683	missense	Protomer destabilisation	Vilboux et al. (2009)	-	AKU_VIL_64a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_64	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1

801 - 900
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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)