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

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The variants below are all in the HGD database, matching your query. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than HGD, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the HGD full legend here.

131 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_ABD_1a	deletion	-	-	DNA	SEQ	exon	AKU_ABD_1	AKU	Abdulrazzag et al. (2008), Slovakia (Slovak Republic):Bratislava	Homozygot	1	UAE	3	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_ABD_1b	deletion	-	-	DNA	SEQ	exon	AKU_ABD_1	AKU	Abdulrazzag et al. (2008), Slovakia (Slovak Republic):Bratislava	Homozygot	1	UAE	3	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_40a	deletion	-	-	DNA	SEQ	exon	AKU_DB_40	AKU	de Bernabe et al. (1999b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Finland	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_40b	deletion	-	-	DNA	SEQ	exon	AKU_DB_40	AKU	de Bernabe et al. (1999b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Finland	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_49a	deletion	-	-	DNA	SEQ	exon	AKU_DB_49	AKU	Ladjouze-Rezig et al. (2006), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	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_66a	deletion	-	-	DNA	SEQ	exon	AKU_DB_66	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_89a	deletion	-	-	DNA	SEQ	exon	AKU_DB_89	AKU	Uyguner et al. (2003), Slovakia (Slovak Republic):Bratislava	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_DB_89b	deletion	-	-	DNA	SEQ	exon	AKU_DB_89	AKU	Uyguner et al. (2003), Slovakia (Slovak Republic):Bratislava	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_DB_90a	deletion	-	-	DNA	SEQ	exon	AKU_DB_90	AKU	Uyguner et al. (2003), 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_90b	deletion	-	-	DNA	SEQ	exon	AKU_DB_90	AKU	Uyguner et al. (2003), 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_92a	deletion	-	-	DNA	SEQ	exon	AKU_DB_92	AKU	Uyguner et al. (2003), 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_92b	deletion	-	-	DNA	SEQ	exon	AKU_DB_92	AKU	Uyguner et al. (2003), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.481G>A	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_SRS_19b	deletion	-	-	DNA	SEQ	exon	AKU_SRS_19	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_VIL_11a	deletion	-	-	DNA	SEQ	exon	AKU_VIL_11	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_VIL_11b	deletion	-	-	DNA	SEQ	exon	AKU_VIL_11	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+	AKU_00013	03	c.175delA + c.410T>C	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_VIL_17a	deletion	-	-	DNA	SEQ	exon	AKU_VIL_17	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00013	03	c.175delA + c.481G>A	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_VIL_2a	deletion	-	-	DNA	SEQ	exon	AKU_VIL_2	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_VIL_25a	deletion	-	-	DNA	SEQ	exon	AKU_VIL_25	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_VIL_25b	deletion	-	-	DNA	SEQ	exon	AKU_VIL_25	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+	AKU_00013	03	c.175delA + c.649G>T	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_VIL_27a	deletion	-	-	DNA	SEQ	exon	AKU_VIL_27	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00013	03	c.175delA + c.473C>T	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_VIL_3a	deletion	-	-	DNA	SEQ	exon	AKU_VIL_3	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00013	03	c.175delA + c.1006+2T>A	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_VIL_70a	deletion	-	-	DNA	SEQ	exon	AKU_VIL_70	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	2	1
+/+	AKU_00013	03	c.175delA + c.1102A>G	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_VIL_88a	deletion	-	-	DNA	SEQ	exon	AKU_VIL_88	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00013	03	c.175delA + c.1078G>C	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_VIL_95a	deletion	-	-	DNA	SEQ	exon	AKU_VIL_95	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00013	03	c.175delA + c.899T>G	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_AQR_14a	deletion	-	-	DNA	SEQ	exon	AKU_AQR_14	AKU	Aquaron et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	La Reunion	1	1
+/+	AKU_00013	03	c.175delA + c.649G>T	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_129a	deletion	-	-	DNA	SEQ	exon	AKU_DB_129	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00013	03	c.175delA + c.481G>A	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_137a	deletion	-	-	DNA	SEQ	exon	AKU_DB_137	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00013	03	c.175delA + c.457dupG	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_147b	deletion	-	-	DNA	SEQ	exon	AKU_DB_147	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_166a	deletion	-	-	DNA	SEQ	exon	AKU_DB_166	AKU	Nemethova et al. (2016), Italy:Roma	Homozygot	1	Italy	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_166b	deletion	-	-	DNA	SEQ	exon	AKU_DB_166	AKU	Nemethova et al. (2016), Italy:Roma	Homozygot	1	Italy	1	1
+/+	AKU_00013	03	c.175delA + c.175delA, c.650-85A>G, c.650-85A>G	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_183a	deletion	-	-	DNA	SEQ	exon	AKU_DB_183	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India	1	1
+/+	AKU_00013	03	c.175delA + c.175delA, c.650-85A>G, c.650-85A>G	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_183b	deletion	-	-	DNA	SEQ	exon	AKU_DB_183	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India	1	1
+/+	AKU_00013	03	c.175delA + c.473C>T	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_197a	deletion	-	-	DNA	SEQ	exon	AKU_DB_197	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Canada	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_210a	deletion	-	-	DNA	SEQ	exon	AKU_DB_210	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	2	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_210b	deletion	-	-	DNA	SEQ	exon	AKU_DB_210	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	2	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_213a	deletion	-	-	DNA	SEQ	exon	AKU_DB_213	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_213b	deletion	-	-	DNA	SEQ	exon	AKU_DB_213	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00013	03	c.175delA + c.899T>G	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_214a	deletion	-	-	DNA	SEQ	exon	AKU_DB_214	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00013	03	c.175delA + c.52G>A	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_217b	deletion	-	-	DNA	SEQ	exon	AKU_DB_217	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00013	03	c.175delA + c.614G>T	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TR2_0327a	deletion	-	-	DNA	SEQ	exon	AKU_TR2_0327	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_238a	deletion	-	-	DNA	SEQ	exon	AKU_DB_238	AKU	Ascher et al. (2019), Italy:Florence	Homozygot	1	Iran	2	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_238b	deletion	-	-	DNA	SEQ	exon	AKU_DB_238	AKU	Ascher et al. (2019), Italy:Florence	Homozygot	1	Iran	2	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_249a	deletion	-	-	DNA	SEQ	exon	AKU_DB_249	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	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_249b	deletion	-	-	DNA	SEQ	exon	AKU_DB_249	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	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_257a	deletion	-	-	DNA	SEQ	exon	AKU_DB_257	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_257b	deletion	-	-	DNA	SEQ	exon	AKU_DB_257	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_265a	deletion	-	-	DNA	SEQ	exon	AKU_DB_265	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_265b	deletion	-	-	DNA	SEQ	exon	AKU_DB_265	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_266a	deletion	-	-	DNA	SEQ	exon	AKU_DB_266	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_266b	deletion	-	-	DNA	SEQ	exon	AKU_DB_266	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00013	03	c.175delA + c.1102A>G	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TR2_0303a	deletion	-	-	DNA	SEQ	exon	AKU_TR2_0303	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Belgium	1	1
+/+	AKU_00013	03	c.175delA + c.52G>A	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TR2_0123a	deletion	-	-	DNA	SEQ	exon	AKU_TR2_0123	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Wales	1	1
+/+	AKU_00013	03	c.175delA + c.481G>A	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TR2_0234b	deletion	-	-	DNA	SEQ	exon	AKU_TR2_0234	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00013	03	c.175delA + c.1102A>G	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_TR2_0236a	deletion	-	-	DNA	SEQ	exon	AKU_TR2_0236	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00013	03	c.175delA + c.16-1G>A	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_289b	deletion	-	-	DNA	SEQ	exon	AKU_DB_289	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00013	03	c.175delA + c.481G>A	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_325b	deletion	-	-	DNA	SEQ	exon	AKU_DB_325	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_332a	deletion	-	-	DNA	SEQ	exon	AKU_DB_332	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00013	03	c.175delA + c.175delA	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_332b	deletion	-	-	DNA	SEQ	exon	AKU_DB_332	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00013	03	c.175delA + c.674G>A	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_338a	deletion	-	-	DNA	SEQ	exon	AKU_DB_338	AKU	Kilavuz et al. 2018, Turkey:Adana	Compound heterozygous	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_DB_339a	deletion	-	-	DNA	SEQ	exon	AKU_DB_339	AKU	Kilavuz et al. 2018, Turkey:Adana	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_DB_339b	deletion	-	-	DNA	SEQ	exon	AKU_DB_339	AKU	Kilavuz et al. 2018, Turkey:Adana	Homozygot	1	Turkey	3	1
+/+	AKU_00013	03	c.175delA + c.674G>A	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_348a	deletion	-	-	DNA	SEQ	exon	AKU_DB_348	AKU	Kilavuz et al. 2018, Turkey:Adana	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_DB_349a	deletion	-	-	DNA	SEQ	exon	AKU_DB_349	AKU	Kilavuz et al. 2018, Turkey:Adana	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_349b	deletion	-	-	DNA	SEQ	exon	AKU_DB_349	AKU	Kilavuz et al. 2018, Turkey:Adana	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_352a	deletion	-	-	DNA	SEQ	exon	AKU_DB_352	AKU	Kilavuz et al. 2018, Turkey:Adana	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_352b	deletion	-	-	DNA	SEQ	exon	AKU_DB_352	AKU	Kilavuz et al. 2018, Turkey:Adana	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_353a	deletion	-	-	DNA	SEQ	exon	AKU_DB_353	AKU	Kilavuz et al. 2018, Turkey:Adana	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_353b	deletion	-	-	DNA	SEQ	exon	AKU_DB_353	AKU	Kilavuz et al. 2018, Turkey:Adana	Homozygot	1	Turkey	1	1
+/+	AKU_00013	03	c.175delA + c.990G>T	r.(?)	p.(Ser59Alafs*52)	S59fs (R58fs)	rs1210546039	frameshift	-	de Bernabe et al. (1999b)	-	AKU_DB_358a	deletion	-	-	DNA	SEQ	exon	AKU_DB_358	AKU	Akbaba et al. 2020, Slovakia (Slovak Republic):Bratislava	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_DB_359a	deletion	-	-	DNA	SEQ	exon	AKU_DB_359	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_359b	deletion	-	-	DNA	SEQ	exon	AKU_DB_359	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_362a	deletion	-	-	DNA	SEQ	exon	AKU_DB_362	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_362b	deletion	-	-	DNA	SEQ	exon	AKU_DB_362	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_363a	deletion	-	-	DNA	SEQ	exon	AKU_DB_363	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_363b	deletion	-	-	DNA	SEQ	exon	AKU_DB_363	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_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

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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)