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.

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_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_365a	deletion	-	-	DNA	SEQ	exon	AKU_DB_365	AKU	Akbaba et al. 2020, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_365b	deletion	-	-	DNA	SEQ	exon	AKU_DB_365	AKU	Akbaba et al. 2020, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_01a	deletion	-	-	DNA	SEQ	exon	AKU_TU_01	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_01b	deletion	-	-	DNA	SEQ	exon	AKU_TU_01	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_01a	deletion	-	-	DNA	SEQ	exon	AKU_TU_01	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_01c	deletion	-	-	DNA	SEQ	exon	AKU_TU_01	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_02a	deletion	-	-	DNA	SEQ	exon	AKU_TU_02	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	2	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_02b	deletion	-	-	DNA	SEQ	exon	AKU_TU_02	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	2	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_04a	deletion	-	-	DNA	SEQ	exon	AKU_TU_04	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_04b	deletion	-	-	DNA	SEQ	exon	AKU_TU_04	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_05a	deletion	-	-	DNA	SEQ	exon	AKU_TU_05	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	3	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_05b	deletion	-	-	DNA	SEQ	exon	AKU_TU_05	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	3	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_07a	deletion	-	-	DNA	SEQ	exon	AKU_TU_07	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_07b	deletion	-	-	DNA	SEQ	exon	AKU_TU_07	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.808G>A	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_07a	deletion	-	-	DNA	SEQ	exon	AKU_TU_07	AKU	Kisa et al. (2021), Turkey:Izmir	Compound heterozygous	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.808G>A	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_11a	deletion	-	-	DNA	SEQ	exon	AKU_TU_11	AKU	Kisa et al. (2021), Turkey:Izmir	Compound heterozygous	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_13a	deletion	-	-	DNA	SEQ	exon	AKU_TU_13	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_13b	deletion	-	-	DNA	SEQ	exon	AKU_TU_13	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_14a	deletion	-	-	DNA	SEQ	exon	AKU_TU_14	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_14b	deletion	-	-	DNA	SEQ	exon	AKU_TU_14	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_16a	deletion	-	-	DNA	SEQ	exon	AKU_TU_16	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	2	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_16b	deletion	-	-	DNA	SEQ	exon	AKU_TU_16	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	2	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_17a	deletion	-	-	DNA	SEQ	exon	AKU_TU_17	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	2	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_17b	deletion	-	-	DNA	SEQ	exon	AKU_TU_17	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	2	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_18a	deletion	-	-	DNA	SEQ	exon	AKU_TU_18	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	2	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_18b	deletion	-	-	DNA	SEQ	exon	AKU_TU_18	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	2	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_19a	deletion	-	-	DNA	SEQ	exon	AKU_TU_19	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_19b	deletion	-	-	DNA	SEQ	exon	AKU_TU_19	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_20a	deletion	-	-	DNA	SEQ	exon	AKU_TU_20	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_20b	deletion	-	-	DNA	SEQ	exon	AKU_TU_20	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_21a	deletion	-	-	DNA	SEQ	exon	AKU_TU_21	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_21b	deletion	-	-	DNA	SEQ	exon	AKU_TU_21	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_23a	deletion	-	-	DNA	SEQ	exon	AKU_TU_23	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_23b	deletion	-	-	DNA	SEQ	exon	AKU_TU_23	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_24a	deletion	-	-	DNA	SEQ	exon	AKU_TU_24	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_24b	deletion	-	-	DNA	SEQ	exon	AKU_TU_24	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_25a	deletion	-	-	DNA	SEQ	exon	AKU_TU_25	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_25b	deletion	-	-	DNA	SEQ	exon	AKU_TU_25	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_26a	deletion	-	-	DNA	SEQ	exon	AKU_TU_26	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_26b	deletion	-	-	DNA	SEQ	exon	AKU_TU_26	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_27a	deletion	-	-	DNA	SEQ	exon	AKU_TU_27	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	7	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_27b	deletion	-	-	DNA	SEQ	exon	AKU_TU_27	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	7	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_27a	deletion	-	-	DNA	SEQ	exon	AKU_TU_27	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	7	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_27c	deletion	-	-	DNA	SEQ	exon	AKU_TU_27	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	7	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_32a	deletion	-	-	DNA	SEQ	exon	AKU_TU_32	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_32b	deletion	-	-	DNA	SEQ	exon	AKU_TU_32	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_36a	deletion	-	-	DNA	SEQ	exon	AKU_TU_36	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TU_36b	deletion	-	-	DNA	SEQ	exon	AKU_TU_36	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.365C>T	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_393a	deletion	-	-	DNA	SEQ	exon	AKU_DB_393	AKU	Danda et al. (2020), India:Vellore	Compound heterozygous	1	India	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_396a	deletion	-	-	DNA	SEQ	exon	AKU_DB_396	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	2	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_396b	deletion	-	-	DNA	SEQ	exon	AKU_DB_396	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	2	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_399a	deletion	-	-	DNA	SEQ	exon	AKU_DB_399	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_399b	deletion	-	-	DNA	SEQ	exon	AKU_DB_399	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_400a	deletion	-	-	DNA	SEQ	exon	AKU_DB_400	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_400b	deletion	-	-	DNA	SEQ	exon	AKU_DB_400	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+	AKU_00013	03	c.175delA + c.808G>A	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_432a	deletion	-	-	DNA	SEQ	exon	AKU_DB_432	AKU	submitted, Dr. Pelin Teke Kisa, Turkey:Izmir	Compound heterozygous	1	Turkey	1	1
-?/?	AKU_00128	03i	c.176+114T>A	r.(?)	p.(?)	ivs3+114T>A	-	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_22	substitution	-	0,013(A)	DNA	SEQ	intron	AKU_POL_22	-	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
-?/?	AKU_00109	03i	c.177-112C>T	r.(?)	p.(?)	ivs3-112C>T	-	polymorphism	-	AKU database	-	AKU_POL_3	substitution	-	0,45(T)	DNA	SEQ	intron	AKU_POL_3	-	AKU database, Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
-?/?	AKU_00112	03i	c.177-52A>C	r.(?)	p.(?)	ivs3-52A>C	rs376858353	polymorphism	-	AKU database	-	AKU_POL_6	substitution	-	0,01(C)	DNA	SEQ	intron	AKU_POL_6	-	AKU database, Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
-?/?	AKU_00111	03i	c.177-50C>T	r.(?)	p.(?)	ivs3-50C>T	rs145728491	polymorphism	-	AKU database	-	AKU_POL_5	substitution	-	0,03(T)	DNA	SEQ	intron	AKU_POL_5	-	AKU database, Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
-?/?	AKU_00110	03i	c.177-35T>G	r.(?)	p.(?)	ivs3-35T>G	-	polymorphism	-	AKU database	-	AKU_POL_4	substitution	-	0,01(G)	DNA	SEQ	intron	AKU_POL_4	-	AKU database, Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
+/+	AKU_00015	03i	c.177-2A>G	r.(spl?)	p.(Trp60Leufs*16)	ivs3-2A>G	rs762524252	aberrant splicing (AS)/exon skipping/frameshift?	-	Phornphutkul et al. (2002)	-	AKU_PHO_4	substitution	-	-	DNA	SEQ	intron	AKU_PHO_4	AKU	Phornphutkul et al. (2002), Slovakia (Slovak Republic):Bratislava	?	1	USA	1	1
-?/?	AKU_00115	04i	al.161-163;(CT)n (c.283-5218_283-5168(CT)n)	r.(?)	p.(?)	HGO-1, D3S4496	-	polymorphism,GDB:5584234/UniSTS:474553	-	Granadino et al. (1997)	-	AKU_POL_9	dinucleotide repeat	-	0,89(al.161);0,11(al.163)	DNA	SEQ	intron	AKU_POL_9	-	Granadino et al. (1997), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
-?/?	AKU_00114	04i	al.175-201;(CA)n (c.282+942_282+979(TG)n)	r.(?)	p.(?)	HGO-3, D3S4556	-	polymorphism,GDB:	-	de Bernabe et al. (1998)	-	AKU_POL_8	dinucleotide repeat	-	0,208(al.189);0,2(al.193)	DNA	SEQ	intron	AKU_POL_8	-	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
+/+	AKU_00016	04	c.178T>G + c.1102A>G	r.(?)	p.(Trp60Gly)	W60G	-	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1999a)	-	AKU_DB_23b	substitution	(+)FauI, AciI; (-)AluI	-	DNA	SEQ	exon	AKU_DB_23	AKU	de Bernabe et al. (1999a), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00016	04	c.178T>G + c.1102A>G	r.(?)	p.(Trp60Gly)	W60G	-	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1999a)	-	AKU_VIL_26a	substitution	(+)FauI, AciI; (-)AluI	-	DNA	SEQ	exon	AKU_VIL_26	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00016	04	c.178T>G + c.(?)	r.(?)	p.(Trp60Gly)	W60G	-	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1999a)	-	AKU_VIL_52a	substitution	(+)FauI, AciI; (-)AluI	-	DNA	SEQ	exon	AKU_VIL_52	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00017	04	c.179G>A + c.179G>A	r.(?)	p.(Trp60*)	W60*	rs1057516467	nonsense	-	Zatkova et al. (2012)	-	AKU_DB_107a	substitution	(+)NheI	-	DNA	SEQ	exon	AKU_DB_107	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00017	04	c.179G>A + c.179G>A	r.(?)	p.(Trp60*)	W60*	rs1057516467	nonsense	-	Zatkova et al. (2012)	-	AKU_DB_107b	substitution	(+)NheI	-	DNA	SEQ	exon	AKU_DB_107	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00202	04	c.180G>A + c.180G>A	r.(?)	p.(Trp60*)	W60*	-	nonsense	-	Ascher et al. (2019)	-	AKU_DB_242a	substitution	?	-	DNA	SEQ	exon	AKU_DB_242	AKU	Ascher et al. (2019), United Kingdom (Great Britain):Liverpool	Homozygot	1	Sri Lanka	1	1
+/+	AKU_00202	04	c.180G>A + c.180G>A	r.(?)	p.(Trp60*)	W60*	-	nonsense	-	Ascher et al. (2019)	-	AKU_DB_242b	substitution	?	-	DNA	SEQ	exon	AKU_DB_242	AKU	Ascher et al. (2019), United Kingdom (Great Britain):Liverpool	Homozygot	1	Sri Lanka	1	1
+/+?	AKU_00018	04	c.182T>C + c.182T>C	r.(?)	p.(Leu61Pro)	L61P	rs1324654414	missense	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_VIL_16a	substitution	(+)HaeIII	-	DNA	SEQ	exon	AKU_VIL_16	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+?	AKU_00018	04	c.182T>C + c.182T>C	r.(?)	p.(Leu61Pro)	L61P	rs1324654414	missense	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_VIL_16b	substitution	(+)HaeIII	-	DNA	SEQ	exon	AKU_VIL_16	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/?	AKU_00224	04	c.184T>A + c.680T>C	r.(?)	p.(Tyr62Asn)	Y62N	-	missense	Protomer destabilisation	Soltysova et al. (2021)	-	AKU_DB_291a	substitution	?	-	DNA	SEQ	exon	AKU_DB_291	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00175	04	c.184_187dupTATA + c.16-1G>A	r.(?)	p.(arg63Ilefs*2)	R63fs	-	frameshift	-	Ascher et al. (2019)	-	AKU_TR2_0262a	duplication	?	-	DNA	SEQ	exon	AKU_TR2_0262	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Poland	1	1
+/+	AKU_00019	04	c.185A>G + c.185A>G	r.(?)	p.(Tyr62Cys)	Y62C	-	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1999a)	-	AKU_DB_20a	substitution	-	-	DNA	SEQ	exon	AKU_DB_20	AKU	de Bernabe et al. (1999a), Slovakia (Slovak Republic):Bratislava	Homozygot	1	France	2	1
+/+	AKU_00019	04	c.185A>G + c.185A>G	r.(?)	p.(Tyr62Cys)	Y62C	-	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1999a)	-	AKU_DB_20b	substitution	-	-	DNA	SEQ	exon	AKU_DB_20	AKU	de Bernabe et al. (1999a), Slovakia (Slovak Republic):Bratislava	Homozygot	1	France	2	1
+/+	AKU_00019	04	c.185A>G + c.(?)	r.(?)	p.(Tyr62Cys)	Y62C	-	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1999a)	-	AKU_VIL_41a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_41	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00019	04	c.185A>G + c.365C>T	r.(?)	p.(Tyr62Cys)	Y62C	-	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1999a)	-	AKU_DB_387b	substitution	-	-	DNA	SEQ	exon	AKU_DB_387	AKU	Danda et al. (2020), India:Vellore	Compound heterozygous	1	India	1	1
+/+?	AKU_00239	04	c.189G>A + c.189G>A	r.(?)	p.(Arg63Arg)	R63R	-	silent/aberrant splicing?	-	Kisa et al. (2021)	-	AKU_TU_06a	substitution	?	-	DNA	SEQ	exon	AKU_TU_06	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+?	AKU_00239	04	c.189G>A + c.189G>A	r.(?)	p.(Arg63Arg)	R63R	-	silent/aberrant splicing?	-	Kisa et al. (2021)	-	AKU_TU_06b	substitution	?	-	DNA	SEQ	exon	AKU_TU_06	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+?	AKU_00239	04	c.189G>A + c.189G>A	r.(?)	p.(Arg63Arg)	R63R	-	silent/aberrant splicing?	-	Kisa et al. (2021)	-	AKU_TU_06a	substitution	?	-	DNA	SEQ	exon	AKU_TU_06	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+?	AKU_00239	04	c.189G>A + c.189G>A	r.(?)	p.(Arg63Arg)	R63R	-	silent/aberrant splicing?	-	Kisa et al. (2021)	-	AKU_TU_06c	substitution	?	-	DNA	SEQ	exon	AKU_TU_06	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00244	04	c.189G>T + c.189G>T	r.(?)	p.(Arg63Ser)	R63S	rs1390061303	missense	?	Noorian et al. 2018	-	AKU_DB_379a	substitution	?	-	DNA	SEQ	exon	AKU_DB_379	AKU	Noorian et al. 2018, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Iran	2	1
+/+	AKU_00244	04	c.189G>T + c.189G>T	r.(?)	p.(Arg63Ser)	R63S	rs1390061303	missense	?	Noorian et al. 2018	-	AKU_DB_379b	substitution	?	-	DNA	SEQ	exon	AKU_DB_379	AKU	Noorian et al. 2018, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Iran	2	1
+/+?	AKU_00020	04	c.217T>C + c.1078G>C	r.(?)	p.(Phe73Leu)	F73L	-	missense	Protomer destabilisation, Hexamer disruption	Vilboux et al. (2009)	CCC triplet	AKU_VIL_77a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_77	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00020	04	c.217T>C + c.1078G>C	r.(?)	p.(Phe73Leu)	F73L	-	missense	Protomer destabilisation, Hexamer disruption	Vilboux et al. (2009)	CCC triplet	AKU_TR2_0122a	substitution	-	-	DNA	SEQ	exon	AKU_TR2_0122	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Spain	1	1
+/+?	AKU_00256	04	c.221A>T + c.1095_1100dup	r.(?)	p.(Glu74Val)	E74V	rs141965690	missense	-	Hu et al. (2012)	-	AKU_DB_425a	substitution	?	-	DNA	SEQ	exon	AKU_DB_425	AKU	Hu et al. (2012), Taiwan:Taipei	Compound heterozygous	1	China	1	1
-?/-?	AKU_00113	04	c.240A>T	r.(?)	p.(His80Gln)	H80Q	rs2255543	missense/polymorphism	-	de Bernabe et al. (1998)	-	AKU_POL_7	substitution	(+)NlaIII	0,22(A)	DNA	SEQ	exon	AKU_POL_7	-	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
-/?	AKU_00129	04	c.260A>C	r.(?)	p.(Glu87Ala)	E87A	rs35702995	missense/polymorphism	Protomer destabilisation, Hexamer disruption	Vilboux et al. (2009)	-	AKU_POL_23	substitution	(+)SfaNI	-	DNA	SEQ	exon	AKU_POL_23	-	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
+/+?	AKU_00021	04	c.274C>A + c.(?)	r.(?)	p.(Pro92Thr)	P92T	-	missense	Hexamer disruption	Phornphutkul et al. (2002)	-	AKU_VIL_40a	substitution	(-)BsaBI	-	DNA	SEQ	exon	AKU_VIL_40	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
-?/?	AKU_00116	04i	c.282+31A>G	r.(?)	p.(?)	ivs4+31A>G	rs1800722	polymorphism	-	de Bernabe et al. (1999b)	-	AKU_POL_10	substitution	-	0,02(G)	DNA	SEQ	intron	AKU_POL_10	-	de Bernabe et al. (1999b), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
-?/?	AKU_00130	04i	c.283-145C>T	r.(?)	p.(?)	ivs4-145C>T	-	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_24	substitution	-	0,032(T)	DNA	SEQ	intron	AKU_POL_24	-	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
-?/?	AKU_00117	04i	c.283-14insA	r.(?)	p.(?)	ivs4-14insA	-	polymorphism	-	AKU database	-	AKU_POL_11	insertion	-	0,01(A)	DNA	SEQ	intron	AKU_POL_11	-	AKU database, Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
-?/?	AKU_00118	04i	c.283-4T>C	r.(?)	p.(?)	ivs4-4T>C	-	aberrant splicing (AS)/exon skipping, polymorphism?	-	AKU database	-	AKU_POL_12	substitution	-	0,001(C)	DNA	SEQ	intron	AKU_POL_12	-	AKU database, Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
+/+	AKU_00197	05_06	c.283-9199_c.434+1688del + c.674G>A	r.(?)	p.(Leu95Metfs*33)	ex5,6 del	-	deletion	-	Ascher et al. (2019)	CpG	AKU_TR2_0115b	deletion	-	-	DNA	SEQ, MLPA	exon	AKU_TR2_0115	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Netherland	1	1
+/+?	AKU_00022	05	c.289T>C + c.359G>T	r.(?)	p.(Trp97Arg)	W97R	-	missense	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_VIL_49a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_49	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00022	05	c.289T>C + c.359G>T	r.(?)	p.(Trp97Arg)	W97R	-	missense	Protomer destabilisation	Phornphutkul et al. (2002)	-	AKU_VIL_51a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_51	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00023	05	c.289T>G + c.289T>G	r.(?)	p.(Trp97Gly)	W97G	-	missense	Protomer destabilisation	de Bernabe et al. (1998)	-	AKU_DB_14a	substitution	(+)MnlI	-	DNA	SEQ	exon	AKU_DB_14	AKU	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	Homozygot	1	France	3	1
+/+	AKU_00023	05	c.289T>G + c.289T>G	r.(?)	p.(Trp97Gly)	W97G	-	missense	Protomer destabilisation	de Bernabe et al. (1998)	-	AKU_DB_14b	substitution	(+)MnlI	-	DNA	SEQ	exon	AKU_DB_14	AKU	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	Homozygot	1	France	3	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)