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.

1457 public entries
entries per page

Path.

DB-ID

Exon

DNA change

RNA change

Protein

Original description

Links

Variant remarks

Predicted Mutation Effect**

Reference

Mutation HOT-SPOT

Allele code

Type

Re-site

Frequency

Template

Technique

Location

Patient ID

Disease

Reference

Remarks

# Reported

Geographic origin

Patient/Affected_per_Family

Families Patients


+/+	AKU_00088	12	c.990G>T + c.175delA	r.(?)	p.(Arg330Ser)	R330S	rs120074171	missense	Protomer destabilisation	de Bernabe et al. (1999b)	-	AKU_DB_358b	substitution	(-)StuI, HaeIII; (+)AhdI	-	DNA	SEQ	exon	AKU_DB_358	AKU	Akbaba et al. 2020, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Turkey	1	1
+/+	AKU_00088	12	c.990G>T + c.990G>T	r.(?)	p.(Arg330Ser)	R330S	rs120074171	missense	Protomer destabilisation	de Bernabe et al. (1999b)	-	AKU_TU_08a	substitution	(-)StuI, HaeIII; (+)AhdI	-	DNA	SEQ	exon	AKU_TU_08	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00088	12	c.990G>T + c.990G>T	r.(?)	p.(Arg330Ser)	R330S	rs120074171	missense	Protomer destabilisation	de Bernabe et al. (1999b)	-	AKU_TU_08b	substitution	(-)StuI, HaeIII; (+)AhdI	-	DNA	SEQ	exon	AKU_TU_08	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00184	12	c.995C>G + c.1081G>A	r.(?)	p.(Pro332Arg)	P332R	-	missense	-	Ascher et al. (2019)	-	AKU_TR2_0320b	substitution	?	-	DNA	SEQ	exon	AKU_TR2_0320	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	1	1
+/+	AKU_00184	12	c.995C>G + c.774+1G>T	r.(?)	p.(Pro332Arg)	P332R	-	missense	-	Ascher et al. (2019)	-	AKU_TR2_0324b	substitution	?	-	DNA	SEQ	exon	AKU_TR2_0324	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Belgium	1	1
+/+	AKU_00089	12i	c.1006+2T>A + c.175delA	r.(spl?)	p.(Asp294Glyfs*4)	ivs12+2T>A	rs1320184173	aberrant splicing (DS)/exon skipping/frameshift?	-	Vilboux et al. (2009)	-	AKU_VIL_70b	substitution	-	-	DNA	SEQ	intron	AKU_VIL_70	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	2	1
+/+	AKU_00089	12i	c.1006+2T>A + c.533A>G	r.(spl?)	p.(Asp294Glyfs*4)	ivs12+2T>A	rs1320184173	aberrant splicing (DS)/exon skipping/frameshift?	-	Vilboux et al. (2009)	-	AKU_DB_447b	substitution	-	-	DNA	NGS	intron	AKU_DB_447	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Germany	1	1
+/+	AKU_00212	12i	c.1006+6T>C + c.342+3A>C	r.(?)	p.(?)	ivs12+6T>C	-	aberrant splicing (DS)/exon skipping/frameshift	-	Cho a Kim 2018	-	AKU_DB_279b	substitution	-	-	DNA	SEQ	intron	AKU_DB_279	AKU	Cho a Kim 2018, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Korea	1	1
-?/?	AKU_00135	12i	c.1007-170A>G	r.(?)	p.(?)	ivs12-170A>G	-	polymorphism	-	Vilboux et al. (2009)	-	AKU_POL_29	substitution	-	0,006(G)	DNA	SEQ	intron	AKU_POL_29	-	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
+/+	AKU_00090	12i	c.1007-2A>T + c.1201G>C	r.(spl?)	p.(Arg336Serfs*5)	ivs12-2A>T	rs1261269370	aberrant splicing (AS)/exon skipping/frameshift?	-	Vilboux et al. (2009)	CCC triplet	AKU_VIL_14a	substitution	-	-	DNA	SEQ	intron	AKU_VIL_14	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00090	12i	c.1007-2A>T + c.447T>A, c.502G>T	r.(spl?)	p.(Arg336Serfs*5)	ivs12-2A>T	rs1261269370	aberrant splicing (AS)/exon skipping/frameshift?	-	Vilboux et al. (2009)	CCC triplet	AKU_VIL_36c	substitution	-	-	DNA	SEQ	intron	AKU_VIL_36	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00090	12i	c.1007-2A>T + c.1102A>G	r.(spl?)	p.(Arg336Serfs*5)	ivs12-2A>T	rs1261269370	aberrant splicing (AS)/exon skipping/frameshift?	-	Vilboux et al. (2009)	CCC triplet	AKU_DB_193b	substitution	-	-	DNA	SEQ	intron	AKU_DB_193	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Canada	1	1
+/+	AKU_00090	12i	c.1007-2A>T + c.502G>T	r.(spl?)	p.(Arg336Serfs*5)	ivs12-2A>T	rs1261269370	aberrant splicing (AS)/exon skipping/frameshift	-	Vilboux et al. (2009)	CCC triplet	AKU_DB_258b	substitution	-	-	DNA	SEQ	intron	AKU_DB_258	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00090	12i	c.1007-2A>T + c.1007-2A>T	r.(spl?)	p.(Arg336Serfs*5)	ivs12-2A>T	rs1261269370	aberrant splicing (AS)/exon skipping/frameshift?	-	Vilboux et al. (2009)	CCC triplet	AKU_DB_282a	substitution	-	-	DNA	SEQ	intron	AKU_DB_282	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00090	12i	c.1007-2A>T + c.1007-2A>T	r.(spl?)	p.(Arg336Serfs*5)	ivs12-2A>T	rs1261269370	aberrant splicing (AS)/exon skipping/frameshift?	-	Vilboux et al. (2009)	CCC triplet	AKU_DB_282b	substitution	-	-	DNA	SEQ	intron	AKU_DB_282	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00090	12i	c.1007-2A>T + c.481G>A	r.(spl?)	p.(Arg336Serfs*5)	ivs12-2A>T	rs1261269370	aberrant splicing (AS)/exon skipping/frameshift?	-	Vilboux et al. (2009)	CCC triplet	AKU_DB_320b	substitution	-	-	DNA	SEQ	intron	AKU_DB_320	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	2	1
+/+	AKU_00090	12i	c.1007-2A>T + c.1007-2A>T	r.(spl?)	p.(Arg336Serfs*5)	ivs12-2A>T	rs1261269370	aberrant splicing (AS)/exon skipping/frameshift?	-	Vilboux et al. (2009)	CCC triplet	AKU_TU_09a	substitution	-	-	DNA	SEQ	intron	AKU_TU_09	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	2	1
+/+	AKU_00090	12i	c.1007-2A>T + c.1007-2A>T	r.(spl?)	p.(Arg336Serfs*5)	ivs12-2A>T	rs1261269370	aberrant splicing (AS)/exon skipping/frameshift?	-	Vilboux et al. (2009)	CCC triplet	AKU_TU_09b	substitution	-	-	DNA	SEQ	intron	AKU_TU_09	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	2	1
+/+	AKU_00090	12i	c.1007-2A>T + c.1007-2A>T	r.(spl?)	p.(Arg336Serfs*5)	ivs12-2A>T	rs1261269370	aberrant splicing (AS)/exon skipping/frameshift?	-	Vilboux et al. (2009)	CCC triplet	AKU_TU_34a	substitution	-	-	DNA	SEQ	intron	AKU_TU_34	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00090	12i	c.1007-2A>T + c.1007-2A>T	r.(spl?)	p.(Arg336Serfs*5)	ivs12-2A>T	rs1261269370	aberrant splicing (AS)/exon skipping/frameshift?	-	Vilboux et al. (2009)	CCC triplet	AKU_TU_34b	substitution	-	-	DNA	SEQ	intron	AKU_TU_34	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00090	12i	c.1007-2A>T + c.1007-2A>T	r.(spl?)	p.(Arg336Serfs*5)	ivs12-2A>T	rs1261269370	aberrant splicing (AS)/exon skipping/frameshift?	-	Vilboux et al. (2009)	CCC triplet	AKU_TU_35a	substitution	-	-	DNA	SEQ	intron	AKU_TU_35	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00090	12i	c.1007-2A>T + c.1007-2A>T	r.(spl?)	p.(Arg336Serfs*5)	ivs12-2A>T	rs1261269370	aberrant splicing (AS)/exon skipping/frameshift?	-	Vilboux et al. (2009)	CCC triplet	AKU_TU_35b	substitution	-	-	DNA	SEQ	intron	AKU_TU_35	AKU	Kisa et al. (2021), Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00090	12i	c.1007-2A>T + c.1007-2A>T	r.(spl?)	p.(Arg336Serfs*5)	ivs12-2A>T	rs1261269370	aberrant splicing (AS)/exon skipping/frameshift	-	Vilboux et al. (2009)	CCC triplet	AKU_DB_430a	substitution	-	-	DNA	SEQ	intron	AKU_DB_430	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00090	12i	c.1007-2A>T + c.1007-2A>T	r.(spl?)	p.(Arg336Serfs*5)	ivs12-2A>T	rs1261269370	aberrant splicing (AS)/exon skipping/frameshift	-	Vilboux et al. (2009)	CCC triplet	AKU_DB_430b	substitution	-	-	DNA	SEQ	intron	AKU_DB_430	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
-?/?	AKU_00124	13i	al.173-199;(CA)n	r.(?)	p.(?)	HGO-2, D3S4497	-	polymorphism,GDB:5584249/UniSTS:474554	-	Granadino et al. (1997)	-	AKU_POL_18	dinucleotide repeat	-	0,208(al.187)	DNA	SEQ	intron	AKU_POL_18	-	Granadino et al. (1997), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
+/?	AKU_00196	13	c.1007-1709_1188+1121del + c.650-56G>A	r.(?)	p.(Arg336Serfs*5)	ex13 del	-	deletion	-	Ascher et al. (2019)	-	AKU_DB_11b	deletion	-	-	DNA	SEQ, MLPA	intron/exon	AKU_DB_11	AKU	de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France/Italy	2	1
+/?	AKU_00196	13	c.1007-1709_1188+1121del + c.469+2T>C	r.(?)	p.(Arg336Serfs*5)	ex13 del	-	deletion	-	Ascher et al. (2019)	-	AKU_DB_170a	deletion	-	-	DNA	SEQ, MLPA	intron/exon	AKU_DB_170	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
+/?	AKU_00196	13	c.1007-1709_1188+1121del + c.1102A>G	r.(?)	p.(Arg336Serfs*5)	ex13 del	-	deletion	-	Ascher et al. (2019)	-	AKU_DB_176b	deletion	-	-	DNA	SEQ, MLPA	intron/exon	AKU_DB_176	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
+/?	AKU_00196	13	c.1007-1709_1188+1121del + c.752G>A	r.(?)	p.(Arg336Serfs*5)	ex13 del	-	deletion	-	Ascher et al. (2019)	-	AKU_DB_189b	deletion	-	-	DNA	SEQ, MLPA	intron/exon	AKU_DB_189	AKU	Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
+/?	AKU_00196	13	c.1007-1709_1188+1121del + c.990G>C	r.(?)	p.(Arg336Serfs*5)	ex13 del	-	deletion	-	Ascher et al. (2019)	-	AKU_DB_230b	deletion	-	-	DNA	SEQ, MLPA	intron/exon	AKU_DB_230	AKU	Ascher et al. (2019), Italy:Florence	Compound heterozygous	1	Italy	1	1
+/?	AKU_00196	13	c.1007-1709_1188+1121del + c.1007-1709_1188+1121del	r.(?)	p.(Arg336Serfs*5)	ex13 del	-	deletion	-	Ascher et al. (2019)	-	AKU_DB_439a	deletion	-	-	DNA	SEQ, MLPA	intron/exon	AKU_DB_439	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/?	AKU_00196	13	c.1007-1709_1188+1121del + c.1007-1709_1188+1121del	r.(?)	p.(Arg336Serfs*5)	ex13 del	-	deletion	-	Ascher et al. (2019)	-	AKU_DB_439b	deletion	-	-	DNA	SEQ, MLPA	intron/exon	AKU_DB_439	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/?	AKU_00196	13	c.1007-1709_1188+1121del + c.31_32delGGinsATT	r.(?)	p.(Arg336Serfs*5)	ex13 del	-	deletion	-	Ascher et al. (2019)	-	AKU_DB_440a	deletion	-	-	DNA	SEQ, MLPA	intron/exon	AKU_DB_440	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
+/+?	AKU_00236	13	c.1007G>A + c.1007G>A	r.(?)	p.(Arg336Lys)	R336K	-	missense	Hexamer disruption, Active site disruption	Kilavuz et al. 2018	CCC triplet	AKU_DB_344a	substitution	?	-	DNA	SEQ	exon	AKU_DB_344	AKU	Kilavuz et al. 2018, Turkey:Adana	Homozygot	1	Turkey	1	1
+/+?	AKU_00236	13	c.1007G>A + c.1007G>A	r.(?)	p.(Arg336Lys)	R336K	-	missense	Hexamer disruption, Active site disruption	Kilavuz et al. 2018	CCC triplet	AKU_DB_344b	substitution	?	-	DNA	SEQ	exon	AKU_DB_344	AKU	Kilavuz et al. 2018, Turkey:Adana	Homozygot	1	Turkey	1	1
+/+	AKU_00198	13	c.1007G>C + c.1007G>C	r.(?)	p.(Arg336Thr)	R336T	-	missense	Hexamer disruption, Active site disruption	Ascher et al. (2019)	CCC triplet	AKU_TR3_0124a	substitution	?	-	DNA	SEQ	exon	AKU_TR3_0124	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Ireland	1	1
+/+	AKU_00198	13	c.1007G>C + c.1007G>C	r.(?)	p.(Arg336Thr)	R336T	-	missense	Hexamer disruption, Active site disruption	Ascher et al. (2019)	CCC triplet	AKU_TR3_0124b	substitution	?	-	DNA	SEQ	exon	AKU_TR3_0124	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Ireland	1	1
+/+	AKU_00140	13	c.1008dupG	r.(?)	p.(Asn337Glufs*5)	N337fs	rs35952153	frameshift/splice acceptor site	-	Vilboux et al. (2009)	CCC triplet	AKU_POL_34?	insertion	-	-	DNA	SEQ	exon	AKU_POL_34	-	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	-	1	-	1	1
+/+?	AKU_00173	13	c.1009A>G + c.1009A>G	r.(?)	p.(Asn337Asp)	N337D	-	missense	Protomer destabilisation, Hexamer disruption	Usher et al. (2015)	CCC triplet	AKU_DB_224a	substitution	(+)BsmFI	-	DNA	SEQ	exon	AKU_DB_224	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00173	13	c.1009A>G + c.1009A>G	r.(?)	p.(Asn337Asp)	N337D	-	missense	Protomer destabilisation, Hexamer disruption	Usher et al. (2015)	CCC triplet	AKU_DB_224b	substitution	(+)BsmFI	-	DNA	SEQ	exon	AKU_DB_224	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+	AKU_00091	13	c.1016delT	r.(?)	p.(Met339Argfs*30)	M339fs	-	frameshift	-	Phornphutkul et al. (2002)	-	AKU_PHO_22	substitution	(+)PstI, SfcI	-	DNA	SEQ	exon	AKU_PHO_22	AKU	Phornphutkul et al. (2002), Slovakia (Slovak Republic):Bratislava	?	1	USA	1	1
+/+	AKU_00092	13	c.1017_1019delGAGinsTA + c.342+1G>A	r.(?)	p.(Met339Ilefs*30)	M339fs	rs1057517081	frameshift	-	Vilboux et al. (2009)	-	AKU_VIL_15b	substitution	-	-	DNA	SEQ	exon	AKU_VIL_15	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00092	13	c.1017_1019delGAGinsTA + c.1118C>T	r.(?)	p.(Met339Ilefs*30)	M339fs	rs1057517081	frameshift	-	Vilboux et al. (2009)	-	AKU_VIL_59a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_59	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00092	13	c.1017_1019delGAGinsTA + c.1017_1019delGAGinsTA	r.(?)	p.(Met339Ilefs*30)	M339fs	rs1057517081	frameshift	-	Vilboux et al. (2009)	-	AKU_VIL_81a	substitution	-	-	DNA	SEQ	exon	AKU_VIL_81	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00092	13	c.1017_1019delGAGinsTA + c.1017_1019delGAGinsTA	r.(?)	p.(Met339Ilefs*30)	M339fs	rs1057517081	frameshift	-	Vilboux et al. (2009)	-	AKU_VIL_81b	substitution	-	-	DNA	SEQ	exon	AKU_VIL_81	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00092	13	c.1017_1019delGAGinsTA + c.16-1G>A, c.481G>A	r.(?)	p.(Met339Ilefs*30)	M339fs	rs1057517081	frameshift	-	Vilboux et al. (2009)	-	AKU_VIL_94c	substitution	-	-	DNA	SEQ	exon	AKU_VIL_94	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+	AKU_00092	13	c.1017_1019delGAGinsTA + c.1017_1019delGAGinsTA	r.(?)	p.(Met339Ilefs*30)	M339fs	rs1057517081	frameshift	-	Vilboux et al. (2009)	-	AKU_TR2_0116a	substitution	-	-	DNA	SEQ	exon	AKU_TR2_0116	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Northern Ireland	3	1
+/+	AKU_00092	13	c.1017_1019delGAGinsTA + c.1017_1019delGAGinsTA	r.(?)	p.(Met339Ilefs*30)	M339fs	rs1057517081	frameshift	-	Vilboux et al. (2009)	-	AKU_TR2_0116b	substitution	-	-	DNA	SEQ	exon	AKU_TR2_0116	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Northern Ireland	3	1
+/+?	AKU_00251	13	c.1019G>T + c.365C>T	r.(?)	p.(Ser340Ile)	S340I	-	missense	?	Danda et al. (2020)	-	AKU_DB_381a	substitution	?	-	DNA	SEQ	exon	AKU_DB_381	AKU	Danda et al. (2020), India:Vellore	Compound heterozygous	1	India	1	1
+/+?	AKU_00245	13	c.1031delG + c.473C>T	r.(?)	p.(Gly344Aspfs*25)	G344fs	rs1295089623	frameshift	-	Lee et al. (2022)	CCC triplet	AKU_DB_423b	deletion	?	-	DNA	SEQ	exon	AKU_DB_423	AKU	Lee et al. (2022), Taiwan:Taipei	Compound heterozygous	1	Taiwan	1	1
+/+	AKU_00207	13	c.1034T>G + c.1034T>G	r.(?)	p.(Leu345Arg)	L345R	-	missense	Protomer destabilisation	submitted, Dr. Jeannette Usher	-	AKU_DB_256a	substitution	?	-	DNA	SEQ	exon	AKU_DB_256	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00207	13	c.1034T>G + c.1034T>G	r.(?)	p.(Leu345Arg)	L345R	-	missense	Protomer destabilisation	submitted, Dr. Jeannette Usher	-	AKU_DB_256b	substitution	?	-	DNA	SEQ	exon	AKU_DB_256	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Homozygot	1	United Kingdom	1	1
+/+	AKU_00183	13	c.1037T>C + c.481G>A	r.(?)	p.(Ile346Thr)	I346T	rs1299204471	missense	-	Ascher et al. (2019)	-	AKU_TR2_0311a	substitution	?	-	DNA	SEQ	exon	AKU_TR2_0311	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	2	1
+/+?	AKU_00252	13	c.1039C>T + c.752G>A	r.(?)	p.(Arg347*)	R347*	rs975005146	nonsense	-	Danda et al. (2020)	-	AKU_DB_382a	substitution	?	-	DNA	SEQ	exon	AKU_DB_382	AKU	Danda et al. (2020), India:Vellore	Compound heterozygous	1	India	1	1
+/?	AKU_00199	13	c.1040G>C + c.1102A>G	r.(?)	p.(Arg347Pro)	R347P	-	missense	Active site disruption	Ascher et al. (2019)	-	AKU_TR3_0125b	substitution	-	-	DNA	SEQ	exon	AKU_TR3_0125	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	1	1
+/+	AKU_00201	13	c.1049A>G + c.674G>T	r.(?)	p.(Tyr350Cys)	Y350C	-	missense	-	Ascher et al. (2019)	-	AKU_DB_243b	substitution	?	-	DNA	SEQ	exon	AKU_DB_243	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Italy	1	1
+/+?	AKU_00154	13	c.1057A>C + c.1078G>C	r.(?)	p.(Lys353Gln)	K353Q	-	missense	Active site disruption	Nemethova et al. (2016)	-	AKU_DB_31b	substitution	-	-	DNA	SEQ	exon	AKU_DB_31	AKU	Porfirio et al. (2000), Italy:Florence	Compound heterozygous	1	Italy	1	1
+/+?	AKU_00154	13	c.1057A>C + c.1057A>C	r.(?)	p.(Lys353Gln)	K353Q	-	missense	Active site disruption	Nemethova et al. (2016)	-	AKU_DB_446a	substitution	-	-	DNA	SEQ	exon	AKU_DB_446	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+?	AKU_00154	13	c.1057A>C + c.1057A>C	r.(?)	p.(Lys353Gln)	K353Q	-	missense	Active site disruption	Nemethova et al. (2016)	-	AKU_DB_446b	substitution	-	-	DNA	SEQ	exon	AKU_DB_446	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+	AKU_00258	13	c.1060C>T + c.1060C>T	r.(?)	p.(Gln354*)	Q354*	rs780333531	nonsense	-	submitted, Dr. Pelin Teke Kisa	-	AKU_DB_433a	substitution	?	-	DNA	SEQ	exon	AKU_DB_433	AKU	submitted, Dr. Pelin Teke Kisa, Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+	AKU_00258	13	c.1060C>T + c.1060C>T	r.(?)	p.(Gln354*)	Q354*	rs780333531	nonsense	-	submitted, Dr. Pelin Teke Kisa	-	AKU_DB_433b	substitution	?	-	DNA	SEQ	exon	AKU_DB_433	AKU	submitted, Dr. Pelin Teke Kisa, Turkey:Izmir	Homozygot	1	Turkey	1	1
+/+?	AKU_00093	13	c.1075C>T + c.1102A>G	r.(?)	p.(Pro359Leu)	P359L	rs764037565	missense	Active site disruption	Vilboux et al. (2009)	-	AKU_VIL_5a	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_VIL_5	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00093	13	c.1075C>T + c.367G>A	r.(?)	p.(Pro359Leu)	P359L	rs764037565	missense	Active site disruption	Vilboux et al. (2009)	-	AKU_DB_209b	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_DB_209	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00095	13	c.1078G>C + c.1078G>C	r.(?)	p.(Gly360Arg)	G360R	rs368717991	missense	Protomer destabilisation	Porfirio et al. (2000)	CCC triplet	AKU_DB_30a	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_DB_30	AKU	Porfirio et al. (2000), Italy:Florence	Homozygot	1	Italy	1	1
+/+?	AKU_00095	13	c.1078G>C + c.1078G>C	r.(?)	p.(Gly360Arg)	G360R	rs368717991	missense	Protomer destabilisation	Porfirio et al. (2000)	CCC triplet	AKU_DB_30b	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_DB_30	AKU	Porfirio et al. (2000), Italy:Florence	Homozygot	1	Italy	1	1
+/+?	AKU_00095	13	c.1078G>C + c.1057A>C	r.(?)	p.(Gly360Arg)	G360R	rs368717991	missense	Protomer destabilisation	Porfirio et al. (2000)	CCC triplet	AKU_DB_31a	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_DB_31	AKU	Porfirio et al. (2000), Italy:Florence	Compound heterozygous	1	Italy	1	1
+/+?	AKU_00095	13	c.1078G>C + c.171G>C	r.(?)	p.(Gly360Arg)	G360R	rs368717991	missense	Protomer destabilisation	Porfirio et al. (2000)	CCC triplet	AKU_GRA_1b	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_GRA_1	AKU	Grasko et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Australia	1	1
+/+?	AKU_00095	13	c.1078G>C + c.1102A>G	r.(?)	p.(Gly360Arg)	G360R	rs368717991	missense	Protomer destabilisation	Porfirio et al. (2000)	CCC triplet	AKU_VIL_21a	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_VIL_21	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00095	13	c.1078G>C + c.899T>G	r.(?)	p.(Gly360Arg)	G360R	rs368717991	missense	Protomer destabilisation	Porfirio et al. (2000)	CCC triplet	AKU_VIL_31b	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_VIL_31	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00095	13	c.1078G>C + c.365C>T	r.(?)	p.(Gly360Arg)	G360R	rs368717991	missense	Protomer destabilisation	Porfirio et al. (2000)	CCC triplet	AKU_VIL_46b	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_VIL_46	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA/India	1	1
+/+?	AKU_00095	13	c.1078G>C + c.359G>T	r.(?)	p.(Gly360Arg)	G360R	rs368717991	missense	Protomer destabilisation	Porfirio et al. (2000)	CCC triplet	AKU_VIL_65b	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_VIL_65	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00095	13	c.1078G>C + c.359G>T	r.(?)	p.(Gly360Arg)	G360R	rs368717991	missense	Protomer destabilisation	Porfirio et al. (2000)	CCC triplet	AKU_VIL_68b	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_VIL_68	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00095	13	c.1078G>C + c.899T>G	r.(?)	p.(Gly360Arg)	G360R	rs368717991	missense	Protomer destabilisation	Porfirio et al. (2000)	CCC triplet	AKU_VIL_75b	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_VIL_75	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00095	13	c.1078G>C + c.217T>C	r.(?)	p.(Gly360Arg)	G360R	rs368717991	missense	Protomer destabilisation	Porfirio et al. (2000)	CCC triplet	AKU_VIL_77b	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_VIL_77	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00095	13	c.1078G>C + c.175delA	r.(?)	p.(Gly360Arg)	G360R	rs368717991	missense	Protomer destabilisation	Porfirio et al. (2000)	CCC triplet	AKU_VIL_95b	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_VIL_95	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	1	1
+/+?	AKU_00095	13	c.1078G>C + c.359G>T	r.(?)	p.(Gly360Arg)	G360R	rs368717991	missense	Protomer destabilisation	Porfirio et al. (2000)	CCC triplet	AKU_DB_227a	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_DB_227	AKU	Usher et al. (2015), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom/France	1	1
+/+?	AKU_00095	13	c.1078G>C + c.1078G>C	r.(?)	p.(Gly360Arg)	G360R	rs368717991	missense	Protomer destabilisation	Porfirio et al. (2000)	CCC triplet	AKU_DB_281a	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_DB_281	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+?	AKU_00095	13	c.1078G>C + c.1078G>C	r.(?)	p.(Gly360Arg)	G360R	rs368717991	missense	Protomer destabilisation	Porfirio et al. (2000)	CCC triplet	AKU_DB_281b	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_DB_281	AKU	submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava	Homozygot	1	Italy	1	1
+/+?	AKU_00095	13	c.1078G>C + c.647T>C	r.(?)	p.(Gly360Arg)	G360R	rs368717991	missense	Protomer destabilisation	Porfirio et al. (2000)	CCC triplet	AKU_TR2_0135a	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_TR2_0135	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	2	1
+/+?	AKU_00095	13	c.1078G>C + c.217T>C	r.(?)	p.(Gly360Arg)	G360R	rs368717991	missense	Protomer destabilisation	Porfirio et al. (2000)	CCC triplet	AKU_TR2_0122b	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_TR2_0122	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Spain	1	1
+/+?	AKU_00095	13	c.1078G>C + c.365C>T	r.(?)	p.(Gly360Arg)	G360R	rs368717991	missense	Protomer destabilisation	Porfirio et al. (2000)	CCC triplet	AKU_TR2_0224a	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_TR2_0224	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	India	1	1
+/+?	AKU_00095	13	c.1078G>C + c.808G>A	r.(?)	p.(Gly360Arg)	G360R	rs368717991	missense	Protomer destabilisation	Porfirio et al. (2000)	CCC triplet	AKU_TR3_0126b	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_TR3_0126	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Latvia	1	1
+/+?	AKU_00095	13	c.1078G>C + c.1078G>C	r.(?)	p.(Gly360Arg)	G360R	rs368717991	missense	Protomer destabilisation	Porfirio et al. (2000)	CCC triplet	AKU_DB_444a	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_DB_444	AKU	Abdelkhalek et al. (2023), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Egypt	2	1
+/+?	AKU_00095	13	c.1078G>C + c.1078G>C	r.(?)	p.(Gly360Arg)	G360R	rs368717991	missense	Protomer destabilisation	Porfirio et al. (2000)	CCC triplet	AKU_DB_444b	substitution	(-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_DB_444	AKU	Abdelkhalek et al. (2023), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Egypt	2	1
+/+?	AKU_00094	13	c.1079G>C + c.1079G>C	r.(?)	p.(Gly360Ala)	G360A	-	missense	Protomer destabilisation	Zatkova et al. (2012)	CCC triplet	AKU_DB_111a	substitution	(+)FauI; (-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_DB_111	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	France	1	1
+/+?	AKU_00094	13	c.1079G>C + c.1079G>C	r.(?)	p.(Gly360Ala)	G360A	-	missense	Protomer destabilisation	Zatkova et al. (2012)	CCC triplet	AKU_DB_111b	substitution	(+)FauI; (-)BstNI, ScrFI	-	DNA	SEQ	exon	AKU_DB_111	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Homozygot	1	France	1	1
+/+?	AKU_00264	13	c.1079G>T + c.1079G>T	r.(?)	p.(Gly360Val)	G360V	rs1172885188	missense	Protomer destabilisation	Abdelkhalek et al. (2023)	CCC triplet	AKU_DB_442a	substitution	-	-	DNA	SEQ	exon	AKU_DB_442	AKU	Abdelkhalek et al. (2023), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Egypt	2	1
+/+?	AKU_00264	13	c.1079G>T + c.1079G>T	r.(?)	p.(Gly360Val)	G360V	rs1172885188	missense	Protomer destabilisation	Abdelkhalek et al. (2023)	CCC triplet	AKU_DB_442b	substitution	-	-	DNA	SEQ	exon	AKU_DB_442	AKU	Abdelkhalek et al. (2023), Slovakia (Slovak Republic):Bratislava	Homozygot	1	Egypt	2	1
+/+?	AKU_00143	13	c.1081G>A + c.828G>C	r.(?)	p.(Gly361Arg)	G361R	rs765219004	missense	Protomer destabilisation	Zatkova et al. (2012)	CCC triplet	AKU_DB_121b	substitution	-	-	DNA	SEQ	exon	AKU_DB_121	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00143	13	c.1081G>A + c.343G>C	r.(?)	p.(Gly361Arg)	G361R	rs765219004	missense	Protomer destabilisation	Zatkova et al. (2012)	CCC triplet	AKU_DB_126b	substitution	-	-	DNA	SEQ	exon	AKU_DB_126	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom/France	1	1
+/+?	AKU_00143	13	c.1081G>A + c.995C>G	r.(?)	p.(Gly361Arg)	G361R	rs765219004	missense	Protomer destabilisation	Zatkova et al. (2012)	CCC triplet	AKU_TR2_0320a	substitution	-	-	DNA	SEQ	exon	AKU_TR2_0320	AKU	Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France	1	1
+/+?	AKU_00143	13	c.1081G>A + c.343G>C	r.(?)	p.(Gly361Arg)	G361R	rs765219004	missense	Protomer destabilisation	Zatkova et al. (2012)	CCC triplet	AKU_DB_269b	substitution	-	-	DNA	SEQ	exon	AKU_DB_269	AKU	submitted, Dr. Jeannette Usher, United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00143	13	c.1081G>A + c.481G>A	r.(?)	p.(Gly361Arg)	G361R	rs765219004	missense	Protomer destabilisation	Zatkova et al. (2012)	CCC triplet	AKU_DB_324a	substitution	-	-	DNA	SEQ	exon	AKU_DB_324	AKU	Soltysova et al. (2021), Russia:Moscow	Compound heterozygous	1	Russia	1	1
+/+?	AKU_00246	13	c.1084G>A + c.16-2063A>C	r.(?)	p.(Gly362Arg)	G362R	?	missense	Protomer destabilisation	Lee et al. (2022)	CCC triplet	AKU_DB_424b	substitution	?	-	DNA	SEQ	exon	AKU_DB_424	AKU	Lee et al. (2022), Taiwan:Taipei	Compound heterozygous	1	Taiwan	1	1
+/+?	AKU_00096	13	c.1085G>A + c.1102A>G	r.(?)	p.(Gly362Glu)	G362E	-	missense	Protomer destabilisation	Phornphutkul et al. (2002)	CCC triplet	AKU_VIL_66a	substitution	(-)MnlI ?	-	DNA	SEQ	exon	AKU_VIL_66	AKU	Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Germany	1	1
+/+?	AKU_00096	13	c.1085G>A + c.1102A>G	r.(?)	p.(Gly362Glu)	G362E	-	missense	Protomer destabilisation	Phornphutkul et al. (2002)	CCC triplet	AKU_DB_138a	substitution	(-)MnlI ?	-	DNA	SEQ	exon	AKU_DB_138	AKU	Zatkova et al. (2012), United Kingdom (Great Britain):Liverpool	Compound heterozygous	1	United Kingdom	1	1
+/+?	AKU_00257	13	c.1095_1100dup + c.221A>T	r.(?)	p.(Ser366_Thr367dup)	S366_T367dup	-	insertion inframe	-	Hu et al. (2012)	-	AKU_DB_425b	duplication	?	-	DNA	SEQ	exon	AKU_DB_425	AKU	Hu et al. (2012), Taiwan:Taipei	Compound heterozygous	1	China	1	1
+/+	AKU_00097	13	c.1102A>G + c.808G>A	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_109b	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_109	AKU	Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	France/Armenia	1	1
+/+	AKU_00097	13	c.1102A>G + c.688C>A	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_18a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_18	AKU	de Bernabe et al. (1999a), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	Spain	1	1
+/+	AKU_00097	13	c.1102A>G + c.178T>G	r.(?)	p.(Met368Val)	M368V	rs120074173	missense	Hexamer disruption	de Bernabe et al. (1998)	-	AKU_DB_23a	substitution	(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI	-	DNA	SEQ	exon	AKU_DB_23	AKU	de Bernabe et al. (1999a), Slovakia (Slovak Republic):Bratislava	Compound heterozygous	1	USA	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)