View all contents - HGD mutation database - Leiden Open Variation Database

About this overview [Show]

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.

1457 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_00170	10	c.674G>C + c.674G>C	r.(?)	p.(Arg225Pro)	R225P	rs562853291	missense	Hexamer disruption	Usher et al. (2015)	CpG	AKU_DB_216a	substitution	(+)LpnPI;(-)BssSI	-	DNA	SEQ	exon	AKU_DB_216	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	2	1
+/+?	AKU_00170	10	c.674G>C + c.674G>C	r.(?)	p.(Arg225Pro)	R225P	rs562853291	missense	Hexamer disruption	Usher et al. (2015)	CpG	AKU_DB_216b	substitution	(+)LpnPI;(-)BssSI	-	DNA	SEQ	exon	AKU_DB_216	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	2	1
+/+?	AKU_00170	10	c.674G>C + c.674G>C	r.(?)	p.(Arg225Pro)	R225P	rs562853291	missense	Hexamer disruption	Usher et al. (2015)	CpG	AKU_DB_216a	substitution	(+)LpnPI;(-)BssSI	-	DNA	SEQ	exon	AKU_DB_216	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	2	1
+/+?	AKU_00170	10	c.674G>C + c.674G>C	r.(?)	p.(Arg225Pro)	R225P	rs562853291	missense	Hexamer disruption	Usher et al. (2015)	CpG	AKU_DB_216c	substitution	(+)LpnPI;(-)BssSI	-	DNA	SEQ	exon	AKU_DB_216	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	2	1
+/+?	AKU_00170	10	c.674G>C + c.347T>C	r.(?)	p.(Arg225Pro)	R225P	rs562853291	missense	Hexamer disruption	Usher et al. (2015)	CpG	AKU_DB_226b	substitution	(+)LpnPI;(-)BssSI	-	DNA	SEQ	exon	AKU_DB_226	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00170	10	c.674G>C + c.347T>C	r.(?)	p.(Arg225Pro)	R225P	rs562853291	missense	Hexamer disruption	Usher et al. (2015)	CpG	AKU_DB_270a	substitution	(+)LpnPI;(-)BssSI	-	DNA	SEQ	exon	AKU_DB_270	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00170	10	c.674G>C + c.647T>C	r.(?)	p.(Arg225Pro)	R225P	rs562853291	missense	Hexamer disruption	Usher et al. (2015)	CpG	AKU_TR2_0126b	substitution	(+)LpnPI;(-)BssSI	-	DNA	SEQ	exon	AKU_TR2_0126	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Spain	1	1
+/+	AKU_00072	10	c.674G>T + c.1111dupC	r.(?)	p.(Arg225Leu)	R225L	-	missense	Hexamer disruption	Phornphutkul et al. (2002)	CpG	AKU_VIL_62a	substitution	(-)BssSI	-	DNA	SEQ	exon	AKU_VIL_62	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00072	10	c.674G>T + c.1049A>G	r.(?)	p.(Arg225Leu)	R225L	-	missense	Hexamer disruption	Ascher et al. (2019)	CpG	AKU_DB_243a	substitution	(-)BssSI	-	DNA	SEQ	exon	AKU_DB_243	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
+/+?	AKU_00237	10	c.679T>C + c.679T>C	r.(?)	p.(Phe227Leu)	F227L	-	missense	Protomer destabilisation/unknown	Kilavuz et al. 2018	-	AKU_DB_345a	substitution	?	-	DNA	SEQ	exon	AKU_DB_345	AKU	Kilavuz et al. 2018, Turkey:Adana	Homozygot	1	Turkey	1	1
+/+?	AKU_00237	10	c.679T>C + c.679T>C	r.(?)	p.(Phe227Leu)	F227L	-	missense	Protomer destabilisation/unknown	Kilavuz et al. 2018	-	AKU_DB_345b	substitution	?	-	DNA	SEQ	exon	AKU_DB_345	AKU	Kilavuz et al. 2018, Turkey:Adana	Homozygot	1	Turkey	1	1
+/+	AKU_00073	10	c.680T>C + c.680T>C	r.(?)	p.(Phe227Ser)	F227S	rs1941093400	missense	Protomer destabilisation	de Bernabe et al. (1998)	-	AKU_DB_16a	substitution	(+)TfiI, HinfI	-	DNA	SEQ	exon	AKU_DB_16	AKU	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Spain	1	1
+/+	AKU_00073	10	c.680T>C + c.680T>C	r.(?)	p.(Phe227Ser)	F227S	rs1941093400	missense	Protomer destabilisation	de Bernabe et al. (1998)	-	AKU_DB_16b	substitution	(+)TfiI, HinfI	-	DNA	SEQ	exon	AKU_DB_16	AKU	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Spain	1	1
+/+	AKU_00073	10	c.680T>C + c.680T>C	r.(?)	p.(Phe227Ser)	F227S	rs1941093400	missense	Protomer destabilisation	de Bernabe et al. (1998)	-	AKU_DB_171a	substitution	(+)TfiI, HinfI	-	DNA	SEQ	exon	AKU_DB_171	AKU	Nemethova et al. (2016), Italy:Florence	Homozygot	1	Italy	1	1
+/+	AKU_00073	10	c.680T>C + c.680T>C	r.(?)	p.(Phe227Ser)	F227S	rs1941093400	missense	Protomer destabilisation	de Bernabe et al. (1998)	-	AKU_DB_171b	substitution	(+)TfiI, HinfI	-	DNA	SEQ	exon	AKU_DB_171	AKU	Nemethova et al. (2016), Italy:Florence	Homozygot	1	Italy	1	1
+/+	AKU_00073	10	c.680T>C + c.481G>A	r.(?)	p.(Phe227Ser)	F227S	rs1941093400	missense	Protomer destabilisation	de Bernabe et al. (1998)	-	AKU_DB_235b	substitution	(+)TfiI, HinfI	-	DNA	SEQ	exon	AKU_DB_235	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
+/+	AKU_00073	10	c.680T>C + c.184T>A	r.(?)	p.(Phe227Ser)	F227S	rs1941093400	missense	Protomer destabilisation	de Bernabe et al. (1998)	-	AKU_DB_291b	substitution	(+)TfiI, HinfI	-	DNA	SEQ	exon	AKU_DB_291	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00075	10	c.688C>A + c.1102A>G	r.(?)	p.(Pro230Thr)	P230T	-	missense	Protomer destabilisation	de Bernabe et al. (1999a)	CCC triplet	AKU_DB_18b	substitution	-	-	DNA	SEQ	exon	AKU_DB_18	AKU	de Bernabe et al. (1999a), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Spain	1	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_DB_1a	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_DB_1	AKU	Fernandez Canon et al. (1996), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Spain	2	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_DB_1b	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_DB_1	AKU	Fernandez Canon et al. (1996), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Spain	2	1
+/+	AKU_00074	10	c.688C>T + c.899T>G	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_DB_2a	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_DB_2	AKU	Fernandez Canon et al. (1996), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Spain	3	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_DB_3a	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_DB_3	AKU	Fernandez Canon et al. (1996), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Turkey	1	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_DB_3b	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_DB_3	AKU	Fernandez Canon et al. (1996), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Turkey	1	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_DB_64a	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_DB_64	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_DB_64b	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_DB_64	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00074	10	c.688C>T + c.1102A>G	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_DB_95a	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_DB_95	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_RAM_1a	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_RAM_1	AKU	Ramos et al. (1998), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Canary Islands	7	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_RAM_1b	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_RAM_1	AKU	Ramos et al. (1998), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Canary Islands	7	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_SRS_12a	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_SRS_12	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_SRS_12b	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_SRS_12	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00074	10	c.688C>T + c.1102A>G	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_VIL_63a	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_VIL_63	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00074	10	c.688C>T + c.481G>A	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_VIL_79b	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_VIL_79	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_DB_175a	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_DB_175	AKU	Nemethova et al. (2016), Italy:Florence	Homozygot	1	Italy	1	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_DB_175b	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_DB_175	AKU	Nemethova et al. (2016), Italy:Florence	Homozygot	1	Italy	1	1
+/+	AKU_00074	10	c.688C>T + c.1102A>G	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_DB_178b	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_DB_178	AKU	Nemethova et al. (2016), France:Marseilles	Compound heterozygous	1	France	1	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_DB_195a	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_DB_195	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_DB_195b	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_DB_195	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_DB_202a	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_DB_202	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	2	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_DB_202b	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_DB_202	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	2	1
+/+	AKU_00074	10	c.688C>T + c.899T>G	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_DB_215a	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_DB_215	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_DB_228a	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_DB_228	AKU	Ascher et al. (2019), Italy:Florence	Homozygot	1	Italy	1	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_DB_228b	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_DB_228	AKU	Ascher et al. (2019), Italy:Florence	Homozygot	1	Italy	1	1
+/+	AKU_00074	10	c.688C>T + c.553G>A	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_TR2_0321a	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_TR2_0321	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France/Belgium	1	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_DB_262a	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_DB_262	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_DB_262b	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_DB_262	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00074	10	c.688C>T + c.808G>A	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_TR2_0322a	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_TR2_0322	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France/Italy	2	1
+/+	AKU_00074	10	c.688C>T + c.289T>G	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_TR2_0307a	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_TR2_0307	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	1	1
+/+	AKU_00074	10	c.688C>T + c.1102A>G	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_TR2_0328a	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_TR2_0328	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France/Belgium	2	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_TR2_0133a	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_TR2_0133	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_TR2_0133b	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_TR2_0133	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_TR2_0217a	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_TR2_0217	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00074	10	c.688C>T + c.688C>T	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_TR2_0217b	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_TR2_0217	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00074	10	c.688C>T + c.457dupG	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_TR2_0219b	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_TR2_0219	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00074	10	c.688C>T + c.791A>G	r.(?)	p.(Pro230Ser)	P230S	rs28942100	missense	Protomer destabilisation	Fernandez Canon et al. (1996)	CCC triplet	AKU_DB_316a	substitution	(+)EcoRV	-	DNA	SEQ	exon	AKU_DB_316	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+?	AKU_00261	10	c.709C>T + c.469+24C>A	r.(?)	p.(Arg237Cys)	R237C	rs1171237852	missense	-	submitted, Dr. Andrea Zatkova	-	AKU_DB_436a	substitution	?	-	DNA	SEQ	exon	AKU_DB_436	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Ireland	1	1
+/+?	AKU_00172	10	c.733G>T + c.37G>A	r.(?)	p.(Val245Phe)	V245F	-	missense	Protomer destabilisation	Usher et al. (2015)	-	AKU_DB_220b	substitution	(+)AflIII, HpyCH4IV;(-)HpyCH4III	-	DNA	SEQ	exon	AKU_DB_220	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00151	10	c.742A>G + c.469+5G>A	r.(?)	p.(Lys248Glu)	K248E	-	missense	Protomer destabilisation	Porfirio et al. (2000)	-	AKU_DB_27b	substitution	-	-	DNA	SEQ	exon	AKU_DB_27	AKU	Porfirio et al. (2000), Italy:Florence	Compound heterozygous	1	Italy	1	1
+/+?	AKU_00151	10	c.742A>G + c.742A>G	r.(?)	p.(Lys248Glu)	K248E	-	missense	Protomer destabilisation	Nemethova et al. (2016)	-	AKU_DB_168a	substitution	-	-	DNA	SEQ	exon	AKU_DB_168	AKU	Nemethova et al. (2016), Italy:Roma	Homozygot	1	Italy	1	1
+/+?	AKU_00151	10	c.742A>G + c.742A>G	r.(?)	p.(Lys248Glu)	K248E	-	missense	Protomer destabilisation	Nemethova et al. (2016)	-	AKU_DB_168b	substitution	-	-	DNA	SEQ	exon	AKU_DB_168	AKU	Nemethova et al. (2016), Italy:Roma	Homozygot	1	Italy	1	1
+/?	AKU_00156	10	c.752G>A + c.1007-1709_1188+1121del	r.(?)	p.(Gly251Asp)	G251D	rs781011621	missense	Protomer destabilisation	Nemethova et al. (2016)	CCC triplet	AKU_DB_189a	substitution	(-)BsaJI, Cac8I	-	DNA	SEQ	exon	AKU_DB_189	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
+/?	AKU_00156	10	c.752G>A + c.16-1G>A	r.(?)	p.(Gly251Asp)	G251D	rs781011621	missense	Protomer destabilisation	Nemethova et al. (2016)	CCC triplet	AKU_DB_288b	substitution	(-)BsaJI, Cac8I	-	DNA	SEQ	exon	AKU_DB_288	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/?	AKU_00156	10	c.752G>A + c.752G>A	r.(?)	p.(Gly251Asp)	G251D	rs781011621	missense	Protomer destabilisation	Nemethova et al. (2016)	CCC triplet	AKU_DB_355a	substitution	(-)BsaJI, Cac8I	-	DNA	SEQ	exon	AKU_DB_355	AKU	Akbaba et al. 2020, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Turkey	1	1
+/?	AKU_00156	10	c.752G>A + c.752G>A	r.(?)	p.(Gly251Asp)	G251D	rs781011621	missense	Protomer destabilisation	Nemethova et al. (2016)	CCC triplet	AKU_DB_355b	substitution	(-)BsaJI, Cac8I	-	DNA	SEQ	exon	AKU_DB_355	AKU	Akbaba et al. 2020, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Turkey	1	1
+/?	AKU_00156	10	c.752G>A + c.1039C>T	r.(?)	p.(Gly251Asp)	G251D	rs781011621	missense	Protomer destabilisation	Nemethova et al. (2016)	CCC triplet	AKU_DB_382b	substitution	(-)BsaJI, Cac8I	-	DNA	SEQ	exon	AKU_DB_382	AKU	Danda et al. (2020), India:Vellore	Compound heterozygous	1	India	1	1
+/?	AKU_00156	10	c.752G>A + c.365C>T	r.(?)	p.(Gly251Asp)	G251D	rs781011621	missense	Protomer destabilisation	Nemethova et al. (2016)	CCC triplet	AKU_DB_398b	substitution	(-)BsaJI, Cac8I	-	DNA	SEQ	exon	AKU_DB_398	AKU	Danda et al. (2020), India:Vellore	Compound heterozygous	1	India	1	1
+/?	AKU_00221	10	c.753C>T + c.16-1G>A, c.16-1G>A, c.372C>T, c.1191A>C	r.(?)	p.(Gly251Gly)	G251G	-	silent/aberrant splicing (creating novel DS)	-	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_287c	substitution	?	-	DNA	SEQ	exon	AKU_DB_287	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	3	1
+/?	AKU_00221	10	c.753C>T + c.753C>T	r.(?)	p.(Gly251Gly)	G251G	-	silent/aberrant splicing (creating novel DS)	-	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_299a	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	-	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	-	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	-	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	-	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	-	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	-	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	-	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	-	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	-	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	-	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_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	-	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	-	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	-	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	-	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

1001 - 1100
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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)