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

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

1451 public entries
entries per page

Path.

DB-ID

Exon

DNA change

RNA change

Protein

Original description

Links

Variant remarks

Predicted Mutation Effect**

Reference

Mutation HOT-SPOT

Allele code

Type

Re-site

Frequency

Template

Technique

Location

Patient ID

Disease

Reference

Remarks

# Reported

Geographic origin

Patient/Affected_per_Family

Families Patients


+/+	AKU_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
+/?	AKU_00164	02	c.16-272_87+305del + c.16-272_87+305del	r.(?)	p.(Tyr6_Gln29del)	ex2 del	rs1553721650	deletion	-	Habbal et al. (2014)	-	AKU_DB_152a	deletion	-	-	DNA	SEQ, MLPA	intron/exon	AKU_DB_152	AKU	Habbal et al. (2014), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Lebanon	1	1
+/?	AKU_00164	02	c.16-272_87+305del + c.16-272_87+305del	r.(?)	p.(Tyr6_Gln29del)	ex2 del	rs1553721650	deletion	-	Habbal et al. (2014)	-	AKU_DB_152b	deletion	-	-	DNA	SEQ, MLPA	intron/exon	AKU_DB_152	AKU	Habbal et al. (2014), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Lebanon	1	1
+/?	AKU_00164	02	c.16-272_87+305del + c.16-272_87+305del	r.(?)	p.(Tyr6_Gln29del)	ex2 del	rs1553721650	deletion	-	Habbal et al. (2014)	-	AKU_DB_160a	deletion	-	-	DNA	SEQ, MLPA	intron/exon	AKU_DB_160	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Israel	2	1
+/?	AKU_00164	02	c.16-272_87+305del + c.16-272_87+305del	r.(?)	p.(Tyr6_Gln29del)	ex2 del	rs1553721650	deletion	-	Habbal et al. (2014)	-	AKU_DB_160b	deletion	-	-	DNA	SEQ, MLPA	intron/exon	AKU_DB_160	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Israel	2	1
+/?	AKU_00164	02	c.16-272_87+305del + c.16-272_87+305del	r.(?)	p.(Tyr6_Gln29del)	ex2 del	rs1553721650	deletion	-	Habbal et al. (2014)	-	AKU_DB_232a	deletion	-	-	DNA	SEQ, MLPA	intron/exon	AKU_DB_232	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Israel	1	1
+/?	AKU_00164	02	c.16-272_87+305del + c.16-272_87+305del	r.(?)	p.(Tyr6_Gln29del)	ex2 del	rs1553721650	deletion	-	Habbal et al. (2014)	-	AKU_DB_232b	deletion	-	-	DNA	SEQ, MLPA	intron/exon	AKU_DB_232	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Israel	1	1
+/?	AKU_00164	02	c.16-272_87+305del + c.16-272_87+305del	r.(?)	p.(Tyr6_Gln29del)	ex2 del	rs1553721650	deletion	-	Habbal et al. (2014)	-	AKU_DB_240a	deletion	-	-	DNA	SEQ, MLPA	intron/exon	AKU_DB_240	AKU	Ascher et al. (2019), Italy:Roma	Homozygot	1	Italy	1	1
+/?	AKU_00164	02	c.16-272_87+305del + c.16-272_87+305del	r.(?)	p.(Tyr6_Gln29del)	ex2 del	rs1553721650	deletion	-	Habbal et al. (2014)	-	AKU_DB_240b	deletion	-	-	DNA	SEQ, MLPA	intron/exon	AKU_DB_240	AKU	Ascher et al. (2019), Italy:Roma	Homozygot	1	Italy	1	1
+/?	AKU_00164	02	c.16-272_87+305del + c.16-272_87+305del	r.(?)	p.(Tyr6_Gln29del)	ex2 del	rs1553721650	deletion	-	Habbal et al. (2014)	-	AKU_TR2_0255a	deletion	-	-	DNA	SEQ, MLPA	intron/exon	AKU_TR2_0255	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Jordan	2	1
+/?	AKU_00164	02	c.16-272_87+305del + c.16-272_87+305del	r.(?)	p.(Tyr6_Gln29del)	ex2 del	rs1553721650	deletion	-	Habbal et al. (2014)	-	AKU_TR2_0255b	deletion	-	-	DNA	SEQ, MLPA	intron/exon	AKU_TR2_0255	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Jordan	2	1
+/+	AKU_00005	02	c.31_32delGGinsATT + c.(?)	r.(?)	p.(Gly11Ilefs*3)	G11fs (F10fs)	rs1057516362	frameshift	-	de Bernabe et al. (1998)	CCC triplet	AKU_DB_17a	deletion/insertion	-	-	DNA	SEQ	exon	AKU_DB_17	AKU	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France/Italy	1	1
+/+	AKU_00005	02	c.31_32delGGinsATT + c.31_32delGGinsATT	r.(?)	p.(Gly11Ilefs*3)	G11fs (F10fs)	rs1057516362	frameshift	-	de Bernabe et al. (1998)	CCC triplet	AKU_DB_143a	deletion/insertion	-	-	DNA	SEQ	exon	AKU_DB_143	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00005	02	c.31_32delGGinsATT + c.31_32delGGinsATT	r.(?)	p.(Gly11Ilefs*3)	G11fs (F10fs)	rs1057516362	frameshift	-	de Bernabe et al. (1998)	CCC triplet	AKU_DB_143b	deletion/insertion	-	-	DNA	SEQ	exon	AKU_DB_143	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00005	02	c.31_32delGGinsATT + c.1007-1709_1188+1121del	r.(?)	p.(Gly11Ilefs*3)	G11fs (F10fs)	rs1057516362	frameshift	-	de Bernabe et al. (1998)	CCC triplet	AKU_DB_440b	deletion/insertion	-	-	DNA	SEQ, MLPA	exon	AKU_DB_440	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
+/+?	AKU_00167	02	c.37G>A + c.733G>T	r.(?)	p.(Glu13Lys)	E13K	-	missense	Hexamer disruption	Usher et al. (2015)	-	AKU_DB_220a	substitution	-	-	DNA	SEQ	exon	AKU_DB_220	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00167	02	c.37G>A + c.650-56G>A	r.(?)	p.(Glu13Lys)	E13K	-	missense	Hexamer disruption	Usher et al. (2015)	-	AKU_DB_246b	substitution	-	-	DNA	SEQ	exon	AKU_DB_246	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
+/+?	AKU_00168	02	c.52G>A + c.175delA	r.(?)	p.(Asp18Asn)	D18N	-	missense	Protomer destabilisation, Hexamer disruption	Usher et al. (2015)	-	AKU_DB_217a	substitution	(+)HinfI,TfiI;(-)BamHI,BfuCI,BstYI,DpnI,DpnII,MboI,Sau3AI	-	DNA	SEQ	exon	AKU_DB_217	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00168	02	c.52G>A + c.175delA	r.(?)	p.(Asp18Asn)	D18N	-	missense	Protomer destabilisation, Hexamer disruption	Usher et al. (2015)	-	AKU_TR2_0123a	substitution	(+)HinfI,TfiI;(-)BamHI,BfuCI,BstYI,DpnI,DpnII,MboI,Sau3AI	-	DNA	SEQ	exon	AKU_TR2_0123	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Wales	1	1
+/?	AKU_00194	02	c.52G>T + c.508G>A	r.(?)	p.(Asp18Tyr)	D18Y	-	missense	Protomer destabilisation, Hexamer disruption	Ascher et al. (2019)	-	AKU_DB_231a	substitution	-	-	DNA	SEQ	exon	AKU_DB_231	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
+/?	AKU_00265	02	c.54T>A + c.550-2A>G	r.(?)	p.(Asp18Glu)	D18E	-	missense	Protomer destabilisation, Hexamer disruption	Ascher et al. (2019)	-	AKU_TR2_0102b	substitution	-	-	DNA	SEQ	exon	AKU_TR2_0102	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Romania	1	1
+/+?	AKU_00006	02	c.74T>C + c.74T>C	r.(?)	p.(Leu25Pro)	L25P	-	missense	Protomer destabilisation, Hexamer disruption	Felbor et al. (1999)	CCC triplet	AKU_FEL_1a	substitution	(+)FauI, AciI	-	DNA	SEQ	exon	AKU_FEL_1	AKU	Felbor et al. (1999), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Germany	1	1
+/+?	AKU_00006	02	c.74T>C + c.74T>C	r.(?)	p.(Leu25Pro)	L25P	-	missense	Protomer destabilisation, Hexamer disruption	Felbor et al. (1999)	CCC triplet	AKU_FEL_1b	substitution	(+)FauI, AciI	-	DNA	SEQ	exon	AKU_FEL_1	AKU	Felbor et al. (1999), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Germany	1	1
+/+?	AKU_00006	02	c.74T>C + c.74T>C	r.(?)	p.(Leu25Pro)	L25P	-	missense	Protomer destabilisation, Hexamer disruption	Felbor et al. (1999)	CCC triplet	AKU_GEH_1a	substitution	(+)FauI, AciI	-	DNA	SEQ	exon	AKU_GEH_1	AKU	Muller et al. (1999), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Germany	1	1
+/+?	AKU_00006	02	c.74T>C + c.74T>C	r.(?)	p.(Leu25Pro)	L25P	-	missense	Protomer destabilisation, Hexamer disruption	Felbor et al. (1999)	CCC triplet	AKU_GEH_1b	substitution	(+)FauI, AciI	-	DNA	SEQ	exon	AKU_GEH_1	AKU	Muller et al. (1999), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Germany	1	1
+/+?	AKU_00006	02	c.74T>C + c.74T>C	r.(?)	p.(Leu25Pro)	L25P	-	missense	Protomer destabilisation, Hexamer disruption	Felbor et al. (1999)	CCC triplet	AKU_DB_341a	substitution	(+)FauI, AciI	-	DNA	SEQ	exon	AKU_DB_341	AKU	Kilavuz et al. 2018, Turkey:Adana	Homozygot	1	Turkey	2	1
+/+?	AKU_00006	02	c.74T>C + c.74T>C	r.(?)	p.(Leu25Pro)	L25P	-	missense	Protomer destabilisation, Hexamer disruption	Felbor et al. (1999)	CCC triplet	AKU_DB_341b	substitution	(+)FauI, AciI	-	DNA	SEQ	exon	AKU_DB_341	AKU	Kilavuz et al. 2018, Turkey:Adana	Homozygot	1	Turkey	2	1
+/+	AKU_00182	02	c.85delC + c.85delC	r.(?)	p.(Gln29Argfs*82)	Q29fs	-	frameshift	-	Ascher et al. (2019)	-	AKU_TR2_0301a	deletion	?	-	DNA	SEQ	exon	AKU_TR2_0301	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Algeria	4	1
+/+	AKU_00182	02	c.85delC + c.85delC	r.(?)	p.(Gln29Argfs*82)	Q29fs	-	frameshift	-	Ascher et al. (2019)	-	AKU_TR2_0301b	deletion	?	-	DNA	SEQ	exon	AKU_TR2_0301	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Algeria	4	1
+/+	AKU_00150	02i	c.87+1G>A + c.87+1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs2+1G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Sakthivel et al. (2014)	-	AKU_DB_153a	substitution	-	-	DNA	SEQ	intron	AKU_DB_153	AKU	Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India	4	1
+/+	AKU_00150	02i	c.87+1G>A + c.87+1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs2+1G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Sakthivel et al. (2014)	-	AKU_DB_153b	substitution	-	-	DNA	SEQ	intron	AKU_DB_153	AKU	Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India	4	1
+/+	AKU_00150	02i	c.87+1G>A + c.87+1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs2+1G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Sakthivel et al. (2014)	-	AKU_DB_154a	substitution	-	-	DNA	SEQ	intron	AKU_DB_154	AKU	Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India	2	1
+/+	AKU_00150	02i	c.87+1G>A + c.87+1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs2+1G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Sakthivel et al. (2014)	-	AKU_DB_154b	substitution	-	-	DNA	SEQ	intron	AKU_DB_154	AKU	Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India	2	1
+/+	AKU_00150	02i	c.87+1G>A + c.87+1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs2+1G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Sakthivel et al. (2014)	-	AKU_DB_155a	substitution	-	-	DNA	SEQ	intron	AKU_DB_155	AKU	Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India	2	1
+/+	AKU_00150	02i	c.87+1G>A + c.87+1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs2+1G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Sakthivel et al. (2014)	-	AKU_DB_155b	substitution	-	-	DNA	SEQ	intron	AKU_DB_155	AKU	Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India	2	1
+/+	AKU_00150	02i	c.87+1G>A + c.87+1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs2+1G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Sakthivel et al. (2014)	-	AKU_DB_156a	substitution	-	-	DNA	SEQ	intron	AKU_DB_156	AKU	Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India	2	1
+/+	AKU_00150	02i	c.87+1G>A + c.87+1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs2+1G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Sakthivel et al. (2014)	-	AKU_DB_156b	substitution	-	-	DNA	SEQ	intron	AKU_DB_156	AKU	Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India	2	1
+/+	AKU_00150	02i	c.87+1G>A + c.(?)	r.(spl?)	p.(Tyr6_Gln29del)	ivs2+1G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Sakthivel et al. (2014)	-	AKU_DB_157a	substitution	-	-	DNA	SEQ	intron	AKU_DB_157	AKU	Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	India	1	1
+/+	AKU_00150	02i	c.87+1G>A + c.(?)	r.(spl?)	p.(Tyr6_Gln29del)	ivs2+1G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Sakthivel et al. (2014)	-	AKU_DB_158a	substitution	-	-	DNA	SEQ	intron	AKU_DB_158	AKU	Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	India	1	1
+/+	AKU_00150	02i	c.87+1G>A + c.87+1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs2+1G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Sakthivel et al. (2014)	-	AKU_DB_159a	substitution	-	-	DNA	SEQ	intron	AKU_DB_159	AKU	Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India	1	1
+/+	AKU_00150	02i	c.87+1G>A + c.87+1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs2+1G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Sakthivel et al. (2014)	-	AKU_DB_159b	substitution	-	-	DNA	SEQ	intron	AKU_DB_159	AKU	Sakthivel et al. (2014), Slovakia (Slovak Republic):Bratislava	Homozygot	1	India	1	1
+/+	AKU_00150	02i	c.87+1G>A + c.87+1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs2+1G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Sakthivel et al. (2014)	-	AKU_DB_184a	substitution	-	-	DNA	SEQ	intron	AKU_DB_184	AKU	Nemethova et al. (2016), India:Vellore	Homozygot	1	India	5	1
+/+	AKU_00150	02i	c.87+1G>A + c.87+1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs2+1G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Sakthivel et al. (2014)	-	AKU_DB_184b	substitution	-	-	DNA	SEQ	intron	AKU_DB_184	AKU	Nemethova et al. (2016), India:Vellore	Homozygot	1	India	5	1
+/+	AKU_00150	02i	c.87+1G>A + c.87+1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs2+1G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Sakthivel et al. (2014)	-	AKU_DB_185a	substitution	-	-	DNA	SEQ	intron	AKU_DB_185	AKU	Nemethova et al. (2016), India:Vellore	Homozygot	1	India	5	1
+/+	AKU_00150	02i	c.87+1G>A + c.87+1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs2+1G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Sakthivel et al. (2014)	-	AKU_DB_185b	substitution	-	-	DNA	SEQ	intron	AKU_DB_185	AKU	Nemethova et al. (2016), India:Vellore	Homozygot	1	India	5	1
+/+	AKU_00150	02i	c.87+1G>A + c.87+1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs2+1G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Sakthivel et al. (2014)	-	AKU_DB_406a	substitution	-	-	DNA	SEQ	intron	AKU_DB_406	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+	AKU_00150	02i	c.87+1G>A + c.87+1G>A	r.(spl?)	p.(Tyr6_Gln29del)	ivs2+1G>A	-	aberrant splicing (DS)/exon skipping/in frame deletion?	-	Sakthivel et al. (2014)	-	AKU_DB_406b	substitution	-	-	DNA	SEQ	intron	AKU_DB_406	AKU	Danda et al. (2020), India:Vellore	Homozygot	1	India	1	1
+/+	AKU_00176	02i	c.87+8_88-31del + c.87+8_88-31del	r.(?)	p.(?)	in2 del	-	deletion	-	Ascher et al. (2019)	-	AKU_TR2_0247a	deletion	-	-	DNA	SEQ	intron	AKU_TR2_0247	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Jordan	1	1
+/+	AKU_00176	02i	c.87+8_88-31del + c.87+8_88-31del	r.(?)	p.(?)	in2 del	-	deletion	-	Ascher et al. (2019)	-	AKU_TR2_0247b	deletion	-	-	DNA	SEQ	intron	AKU_TR2_0247	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Jordan	1	1
-?/?	AKU_00107	02i	c.87+35A>T	r.(?)	p.(?)	ivs2+35A>T	rs2733825	polymorphism	-	de Bernabe et al. (1998)	-	AKU_POL_1	substitution	-	0,12(T)	DNA	SEQ	intron	AKU_POL_1	-	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
-?/?	AKU_00127	02i	c.87+118A>G	r.(?)	p.(?)	ivs2+118A>G	rs17140396	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_21	substitution	-	0,076(G)	DNA	SEQ	intron	AKU_POL_21	-	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
-?/?	AKU_00108	02i	c.88-218A>T	r.(?)	p.(?)	ivs2-218A>T	-	polymorphism	-	Granadino et al. (1997)	-	AKU_POL_2	substitution	-	-	DNA	SEQ	intron	AKU_POL_2	-	Granadino et al. (1997), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
+/+	AKU_00014	03	c.(?)	r.(?)	p.(Ser59*)	S59*	-	nonsense	-	Phornphutkul et al. (2002)	-	AKU_PHO_3	substitution	-	-	DNA	SEQ	exon	AKU_PHO_3	AKU	Phornphutkul et al. (2002), Slovakia (Slovak Republic):Bratislava	?	1	USA	1	1
+/+?	AKU_00007	03	c.98A>G + c.455G>C	r.(?)	p.(Gln33Arg)	Q33R	-	missense	Hexamer disruption	Zatkova et al. (2012)	-	AKU_DB_100a	substitution	(+)BsoBI, AvaI	-	DNA	SEQ	exon	AKU_DB_100	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	South Korea	1	1
+/+	AKU_00160	03	c.119A>C + c.119A>C	r.(?)	p.(Tyr40Ser)	Y40S	-	missense	Protomer destabilisation, Hexamer disruption	Nemethova et al. (2016)	-	AKU_DB_192a	substitution	-	-	DNA	SEQ	exon	AKU_DB_192	AKU	Nemethova et al. (2016), Italy:Roma	Homozygot	1	Italy	1	1
+/+	AKU_00160	03	c.119A>C + c.119A>C	r.(?)	p.(Tyr40Ser)	Y40S	-	missense	Protomer destabilisation, Hexamer disruption	Nemethova et al. (2016)	-	AKU_DB_192b	substitution	-	-	DNA	SEQ	exon	AKU_DB_192	AKU	Nemethova et al. (2016), Italy:Roma	Homozygot	1	Italy	1	1
+/+	AKU_00165	03	c.124delG (not c.115delG) + c.342+3A>C	r.(?)	p.(Glu42Serfs*69)	E42fs (before c.115delG (L39fs; p.(Leu39Ser*72))	-	frameshift	-	Li et al. (2014)	-	AKU_DB_201a	deletion	(+)BfaI, BmtI, Cac8I, NheI;(-)BlpI	-	DNA	SEQ	exon	AKU_DB_201	AKU	Li et al. (2014), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	China	1	1
+/+	AKU_00008	03	c.125A>C + c.125A>C	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_8a	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_DB_8	AKU	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	Homozygot	1	United Kingdom	1	1
+/+	AKU_00008	03	c.125A>C + c.125A>C	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_8b	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_DB_8	AKU	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	Homozygot	1	United Kingdom	1	1
+/+	AKU_00008	03	c.125A>C + c.125A>C	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_22a	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_VIL_22	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+	AKU_00008	03	c.125A>C + c.125A>C	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_22b	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_VIL_22	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+	AKU_00008	03	c.125A>C + c.125A>C	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_34a	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_VIL_34	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+	AKU_00008	03	c.125A>C + c.125A>C	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_34b	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_VIL_34	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+	AKU_00008	03	c.125A>C + c.125A>C	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_9a	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_VIL_9	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+	AKU_00008	03	c.125A>C + c.125A>C	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_VIL_9b	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_VIL_9	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Homozygot	1	USA	1	1
+/+	AKU_00008	03	c.125A>C + c.1102A>G	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_133a	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_DB_133	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	2	1
+/+	AKU_00008	03	c.125A>C + c.125A>C	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_134a	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_DB_134	AKU	Zatkova et al. (2012); Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	2	1
+/+	AKU_00008	03	c.125A>C + c.125A>C	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_134b	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_DB_134	AKU	Zatkova et al. (2012); Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	2	1
+/+	AKU_00008	03	c.125A>C + c.359G>T	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_203b	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_DB_203	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00008	03	c.125A>C + c.125A>C	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_204a	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_DB_204	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	2	1
+/+	AKU_00008	03	c.125A>C + c.125A>C	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_204b	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_DB_204	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	2	1
+/+	AKU_00008	03	c.125A>C + c.481G>A	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_221a	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_DB_221	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00008	03	c.125A>C + c.(?)	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_223b	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_DB_223	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00008	03	c.125A>C + c.899T>G	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_225a	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_DB_225	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00008	03	c.125A>C + c.125A>C	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_255a	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_DB_255	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	2	1
+/+	AKU_00008	03	c.125A>C + c.125A>C	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_255b	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_DB_255	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	2	1
+/+	AKU_00008	03	c.125A>C + c.125A>C	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_259a	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_DB_259	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00008	03	c.125A>C + c.125A>C	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_259b	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_DB_259	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00008	03	c.125A>C + c.125A>C	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_260a	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_DB_260	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00008	03	c.125A>C + c.125A>C	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_260b	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_DB_260	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00008	03	c.125A>C + c.125A>C	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_261a	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_DB_261	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00008	03	c.125A>C + c.125A>C	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_261b	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_DB_261	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00008	03	c.125A>C + c.457G>A	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_253b	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_DB_253	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00008	03	c.125A>C + c.1102A>G	r.(?)	p.(Glu42Ala)	E42A	rs373921680	missense	Protomer destabilisation, Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_263b	substitution	(+)HhaI, FspI	-	DNA	SEQ	exon	AKU_DB_263	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/?	AKU_00230	03	c.127C>G + c.481G>A	r.(?)	p.(Gln43Glu)	Q43E	rs1243059404	missense	Hexamer disruption	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_331b	substitution	?	-	DNA	SEQ	exon	AKU_DB_331	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+?	AKU_00009	03	c.130C>T + c.860C>A	r.(?)	p.(Leu44Phe)	L44F	rs1049246177	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_108c	substitution	(-)AluI	-	DNA	SEQ	exon	AKU_DB_108	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Algeria	2	1
+/+?	AKU_00009	03	c.130C>T + c.970dupG	r.(?)	p.(Leu44Phe)	L44F	rs1049246177	missense	Protomer destabilisation	Zatkova et al. (2012)	-	AKU_DB_167a	substitution	(-)AluI	-	DNA	SEQ	exon	AKU_DB_167	AKU	Nemethova et al. (2016), Italy:Roma	Compound heterozygous	1	Italy	1	1
+/?	AKU_00226	03	c.131T>C + c.481G>A	r.(?)	p.(Leu44Pro)	L44P	rs1708095030	missense	Hexamer disruption	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_297b	substitution	?	-	DNA	SEQ	exon	AKU_DB_297	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/?	AKU_00226	03	c.131T>C + c.481G>A	r.(?)	p.(Leu44Pro)	L44P	rs1708095030	missense	Hexamer disruption	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_330b	substitution	?	-	DNA	SEQ	exon	AKU_DB_330	AKU	Soltysova et al. (2021), Russia:Moscow	Homozygot	1	Russia	1	1
+/?	AKU_00226	03	c.131T>C + c.481G>A	r.(?)	p.(Leu44Pro)	L44P	rs1708095030	missense	Hexamer disruption	Soltysova et al. (2021), Bychkov et al. (2021)	-	AKU_DB_378a	substitution	?	-	DNA	SEQ	exon	AKU_DB_378	AKU	Bychkov et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+?	AKU_00010	03	c.140C>T + c.481G>A	r.(?)	p.(Ser47Leu)	S47L	rs369517993	missense	Hexamer disruption	Zatkova et al. (2000a)	CpG	AKU_DB_57a	substitution	(-)MboI, AlwI, Sau3AI, DpnI, DpnII	-	DNA	SEQ	exon	AKU_DB_57	AKU	Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Slovakia	1	1
+/+?	AKU_00010	03	c.140C>T + c.140C>T	r.(?)	p.(Ser47Leu)	S47L	rs369517993	missense	Hexamer disruption	Zatkova et al. (2000a)	CpG	AKU_DB_244a	substitution	(-)MboI, AlwI, Sau3AI, DpnI, DpnII	-	DNA	SEQ	exon	AKU_DB_244	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1

101 - 200
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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)