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.
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For a more detailed description of each field, please see the HGD full legend here.

49 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_00004	01i	c.16-1G>A + c.1188+1G>T	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_22a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_22	AKU	de Bernabe et al. (1999a), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Poland	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.16-1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_43a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_43	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Algeria	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.16-1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_43b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_43	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Algeria	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.481G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_53c	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_53	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	7	1
+/+	AKU_00004	01i	c.16-1G>A + c.1111dupC	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_54a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_54	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.457dupG	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_71a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_71	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.481G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_MUL_4b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_MUL_4	AKU	Muller et al. (1999), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Czech republic	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.481G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_MUL_5a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_MUL_5	AKU	Muller et al. (1999), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Czech republic	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.899T>G	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_SRS_13b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_SRS_13	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	2	1
+/+	AKU_00004	01i	c.16-1G>A + c.481G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_SRS_3b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_SRS_3	AKU	Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.481G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_VIL_57a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_VIL_57	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.481G>A, c.1017_1019delGAGinsTA	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_VIL_94a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_VIL_94	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.365C>T	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_140b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_140	AKU	Zatkova et al. (2012), Jordan:Karak	Compound heterozygous	1	Jordan	2	1
+/+	AKU_00004	01i	c.16-1G>A + c.16-1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_146a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_146	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	2	1
+/+	AKU_00004	01i	c.16-1G>A + c.16-1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_146b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_146	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	2	1
+/+	AKU_00004	01i	c.16-1G>A + c.1102A>G	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_205a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_205	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.184_187dupTATA	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_TR2_0262b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_TR2_0262	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Poland	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.16-1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_234a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_234	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.16-1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_234b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_234	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.16-1G>A, c.775-1915_879+1293del	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_TR2_0119b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_TR2_0119	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.16-1G>A, c.775-1915_879+1293del	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_TR2_0119a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_TR2_0119	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.16-1G>A, c.457dupG	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_TR2_0129b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_TR2_0129	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Romania	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.16-1G>A, c.457dupG	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_TR2_0129a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_TR2_0129	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Romania	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.481G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_TR2_0110b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_TR2_0110	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Poland	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.481G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_TR2_0114b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_TR2_0114	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Serbia	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.16-1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_TR2_0253a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_TR2_0253	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Jordan	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.16-1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_TR2_0253a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_TR2_0253	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Jordan	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.481G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_TR2_0258b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_TR2_0258	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Poland	2	1
+/+	AKU_00004	01i	c.16-1G>A + c.481G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_TR2_0261b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_TR2_0261	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.16-1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_TR2_0254a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_TR2_0254	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Jordan	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.16-1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_TR2_0254a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_TR2_0254	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Jordan	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.16-1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_284a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_284	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.16-1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_284b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_284	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Slovakia	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.16-1G>A, c.372C>T, c.753C>T, c.1191A>C	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_287a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_287	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	3	1
+/+	AKU_00004	01i	c.16-1G>A + c.16-1G>A, c.372C>T, c.753C>T, c.1191A>C	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_287b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_287	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	3	1
+/+	AKU_00004	01i	c.16-1G>A + c.752G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_288a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_288	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.175delA	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_289a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_289	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.481G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_292b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_292	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.481G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_306b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_306	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.16-1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_309a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_309	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.16-1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_309b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_309	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.481G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_311b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_311	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.481G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_319b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_319	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.481G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_323b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_323	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.16-1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_327a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_327	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.16-1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_327b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_327	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.1102A>G	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_329a	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_329	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	2	1
+/+	AKU_00004	01i	c.16-1G>A + c.481G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_429b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_429	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+	AKU_00004	01i	c.16-1G>A + c.649+2T>C	r.(spl?)	p.(Tyr6_Gln29del)	ivs1-1G>A	rs397515347	aberrant splicing (AS)/exon skipping/in frame deletion?	-	Muller et al. (1999)	-	AKU_DB_431b	substitution	(-)RsaI	-	DNA	SEQ	intron	AKU_DB_431	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1

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Coding DNA Reference Sequence: NM_000187.3, the first base of the Met-codon is counted as position 1.

Some specific features:
Exon: (00) stands for any exon; (i) indicates intron.
DNA: (c.?) or wobble code is used when nucleotide change was not known or not indicated
Variant original description: brief name of the mutation; if original description of the mutation was different, it is indicated after comma
Remarks: description of the variant, AS= acceptor site, DS=donor site
Predicted Mutation Effect**: The effects of the novel missense variants on stability and protein-protein afinity was assessed in the context
of the molecular interactions of the wild-type residue using mCSM Pires et al. (2014a) and DUET Pires et al. (2014b). Details are downloadable here: TABLE

Allele_code: i.e. patient with the Patient_ID (AKU_AQR_11) has alleles AKU_AQR_11a and AKU_AQR_11b
Restriction site: mutation abolishes (-) or creates (+) specific restriction site
Frequency: of specific polymorphic alleles (AKUdatabase or Vilboux at al. (2009))
Patient_ID: in cases with ID starting with AKU_DB_ we report also HGD haplotypes that can be found in this link: HGD haplotypes associated with AKU mutations
DBID: AKU_00000 is used for alleles with unknown mutation

References not present in PubMed:
Aquaron et al. (2009) (not listed in PubMed): Current Rheumatology Reviews, 2009, 5:111-125. https://doi.org/10.2174/157339709788298419
Cho end Kim (2018) (not listed in PubMed): J Genet Med, 2018, 15:17-19. https://doi.org/10.5734/JGM.2018.15.1.17
Kilavuz et al. (2018) (not listed in PubMed): J. Pediatr. Res. 2018, 5: 7-11. https://doi.org/10.4274/jpr.20982
Akbaba et al. (2020) (not listed in PubMed): JPEM, 33 (2): 289-294, https://doi.org/10.1515/jpem-2019-0163
Mwafi et al. (2021) (not listed in PubMed): AIMS Molecular Science, 8 (1): 60-75, https://doi.org/10.3934/molsci.2021005
Noorian et al. (2018) (not listed in PubMed): Meta Gene, 18: 174-176, https://doi.org/10.1016/j.mgene.2018.09.006

Legend: [ HGD full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. HGD DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Original description: Variant_original_description Links: Links Variant remarks: Variant remarks Predicted Mutation Effect**: The effects of the novel missense variants on stability and protein-protein afinity was assessed in the context of the molecular interactions of the wild-type residue using mCSM and DUET. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Mutation HOT-SPOT: mutation_HOT_SPOT Allele code: Allele_code Type: Type of variant at DNA level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Location: Variant location at DNA level. Patient ID: Internal reference to the patient. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the patient, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported Geographic origin: Geographic origin of patient Patient/Affected_per_Family: Number of patients per family Families Patients: test

HGD mutation database

homogentisate 1,2-dioxygenase (HGD)