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DNA change |
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Predicted Mutation Effect** |
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Patient/Affected_per_Family |
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+/? |
AKU_00000 |
00 |
c.(?) + c.(?) |
r.(?) |
p.(?) |
unknown |
- |
unknown |
- |
Nemethova et al. (2016) |
- |
AKU_DB_198a |
unknown |
- |
- |
DNA |
SEQ |
unknown |
AKU_DB_198 |
AKU |
Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava |
? |
1 |
Germany |
1 |
1 |
+/? |
AKU_00000 |
00 |
c.(?) + c.(?) |
r.(?) |
p.(?) |
unknown |
- |
unknown |
- |
Nemethova et al. (2016) |
- |
AKU_DB_198b |
unknown |
- |
- |
DNA |
SEQ |
unknown |
AKU_DB_198 |
AKU |
Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava |
? |
1 |
Germany |
1 |
1 |
+/? |
AKU_00200 |
01-04 |
c.1-8460_282+6727del + c.808G>A |
r.(?) |
p.(?) |
ex1,2,3,4 del |
- |
deletion |
- |
Ascher et al. (2019) |
- |
AKU_TR3_0122b |
deletion |
- |
- |
DNA |
SEQ, MLPA |
multiple exons |
AKU_TR3_0122 |
AKU |
Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava |
Compound heterozygous |
1 |
Germany/Peru |
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_00050 |
08 |
c.481G>A + c.1102A>G |
r.(?) |
p.(Gly161Arg) |
G161R |
rs28941783 |
missense |
Protomer destabilisation |
Gehrig et al. (1997) |
CCC triplet |
AKU_MUL_3b |
substitution |
(-)BslI |
- |
DNA |
SEQ |
exon |
AKU_MUL_3 |
AKU |
Muller et al. (1999), Slovakia (Slovak Republic):Bratislava |
Compound heterozygous |
1 |
Germany |
1 |
1 |
+/+ |
AKU_00050 |
08 |
c.481G>A + c.1102A>G |
r.(?) |
p.(Gly161Arg) |
G161R |
rs28941783 |
missense |
Protomer destabilisation |
Gehrig et al. (1997) |
CCC triplet |
AKU_DB_188a |
substitution |
(-)BslI |
- |
DNA |
SEQ |
exon |
AKU_DB_188 |
AKU |
Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava |
Compound heterozygous |
1 |
Germany |
1 |
1 |
+/+? |
AKU_00056 |
08 |
c.533A>G + c.1006+2T>A |
r.(?) |
p.(Glu178Gly) |
E178G |
- |
missense |
Protomer destabilisation |
Zatkova et al. (2012) |
- |
AKU_DB_447a |
substitution |
(+)AlwI; (-)BglII |
- |
DNA |
NGS |
exon |
AKU_DB_447 |
AKU |
submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava |
Compound heterozygous |
1 |
Germany |
1 |
1 |
+/+? |
AKU_00079 |
11 |
c.808G>A + c.1-8460_282+6727del |
r.(?) |
p.(Gly270Arg) |
G270R |
rs120074174 |
missense |
Protomer destabilisation, Hexamer disruption |
Muller et al. (1999) |
CCC triplet, CpG |
AKU_TR3_0122a |
substitution |
(+)EcoNI |
- |
DNA |
SEQ |
exon |
AKU_TR3_0122 |
AKU |
Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava |
Compound heterozygous |
1 |
Germany/Peru |
1 |
1 |
+/+ |
AKU_00083 |
12 |
c.899T>G + c.899T>G |
r.(?) |
p.(Val300Gly) |
V300G |
rs120074170 |
missense |
Protomer destabilisation |
Fernandez Canon et al. (1996) |
- |
AKU_DB_6a |
substitution |
- |
- |
DNA |
SEQ |
exon |
AKU_DB_6 |
AKU |
Fernandez Canon et al. (1996), Slovakia (Slovak Republic):Bratislava |
Homozygot |
1 |
Germany |
1 |
1 |
+/+ |
AKU_00083 |
12 |
c.899T>G + c.899T>G |
r.(?) |
p.(Val300Gly) |
V300G |
rs120074170 |
missense |
Protomer destabilisation |
Fernandez Canon et al. (1996) |
- |
AKU_DB_6b |
substitution |
- |
- |
DNA |
SEQ |
exon |
AKU_DB_6 |
AKU |
Fernandez Canon et al. (1996), Slovakia (Slovak Republic):Bratislava |
Homozygot |
1 |
Germany |
1 |
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_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_00097 |
13 |
c.1102A>G + c.1102A>G |
r.(?) |
p.(Met368Val) |
M368V |
rs120074173 |
missense |
Hexamer disruption |
de Bernabe et al. (1998) |
- |
AKU_DB_7a |
substitution |
(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI |
- |
DNA |
SEQ |
exon |
AKU_DB_7 |
AKU |
de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava |
Homozygot |
1 |
Germany |
1 |
1 |
+/+ |
AKU_00097 |
13 |
c.1102A>G + c.1102A>G |
r.(?) |
p.(Met368Val) |
M368V |
rs120074173 |
missense |
Hexamer disruption |
de Bernabe et al. (1998) |
- |
AKU_DB_7b |
substitution |
(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI |
- |
DNA |
SEQ |
exon |
AKU_DB_7 |
AKU |
de Bernabe et al. (1998), Slovakia (Slovak Republic):Bratislava |
Homozygot |
1 |
Germany |
1 |
1 |
+/+ |
AKU_00097 |
13 |
c.1102A>G + c.1102A>G |
r.(?) |
p.(Met368Val) |
M368V |
rs120074173 |
missense |
Hexamer disruption |
de Bernabe et al. (1998) |
- |
AKU_FEL_2a |
substitution |
(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI |
- |
DNA |
SEQ |
exon |
AKU_FEL_2 |
AKU |
Felbor et al. (1999), Slovakia (Slovak Republic):Bratislava |
Homozygot |
1 |
Germany |
2 |
1 |
+/+ |
AKU_00097 |
13 |
c.1102A>G + c.1102A>G |
r.(?) |
p.(Met368Val) |
M368V |
rs120074173 |
missense |
Hexamer disruption |
de Bernabe et al. (1998) |
- |
AKU_FEL_2b |
substitution |
(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI |
- |
DNA |
SEQ |
exon |
AKU_FEL_2 |
AKU |
Felbor et al. (1999), Slovakia (Slovak Republic):Bratislava |
Homozygot |
1 |
Germany |
2 |
1 |
+/+ |
AKU_00097 |
13 |
c.1102A>G + c.1102A>G |
r.(?) |
p.(Met368Val) |
M368V |
rs120074173 |
missense |
Hexamer disruption |
de Bernabe et al. (1998) |
- |
AKU_MUL_2a |
substitution |
(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI |
- |
DNA |
SEQ |
exon |
AKU_MUL_2 |
AKU |
Muller et al. (1999), Slovakia (Slovak Republic):Bratislava |
Homozygot |
1 |
Germany |
1 |
1 |
+/+ |
AKU_00097 |
13 |
c.1102A>G + c.1102A>G |
r.(?) |
p.(Met368Val) |
M368V |
rs120074173 |
missense |
Hexamer disruption |
de Bernabe et al. (1998) |
- |
AKU_MUL_2b |
substitution |
(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI |
- |
DNA |
SEQ |
exon |
AKU_MUL_2 |
AKU |
Muller et al. (1999), Slovakia (Slovak Republic):Bratislava |
Homozygot |
1 |
Germany |
1 |
1 |
+/+ |
AKU_00097 |
13 |
c.1102A>G + c.481G>A |
r.(?) |
p.(Met368Val) |
M368V |
rs120074173 |
missense |
Hexamer disruption |
de Bernabe et al. (1998) |
- |
AKU_MUL_3a |
substitution |
(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI |
- |
DNA |
SEQ |
exon |
AKU_MUL_3 |
AKU |
Muller et al. (1999), Slovakia (Slovak Republic):Bratislava |
Compound heterozygous |
1 |
Germany |
1 |
1 |
+/+ |
AKU_00097 |
13 |
c.1102A>G + c.1085G>A |
r.(?) |
p.(Met368Val) |
M368V |
rs120074173 |
missense |
Hexamer disruption |
de Bernabe et al. (1998) |
- |
AKU_VIL_66b |
substitution |
(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI |
- |
DNA |
SEQ |
exon |
AKU_VIL_66 |
AKU |
Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava |
Compound heterozygous |
1 |
Germany |
1 |
1 |
+/+ |
AKU_00097 |
13 |
c.1102A>G + c.1102A>G |
r.(?) |
p.(Met368Val) |
M368V |
rs120074173 |
missense |
Hexamer disruption |
de Bernabe et al. (1998) |
- |
AKU_WAL_1a |
substitution |
(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI |
- |
DNA |
SEQ |
exon |
AKU_WAL_1 |
AKU |
Walter et al. (1999), Slovakia (Slovak Republic):Bratislava |
Homozygot |
1 |
Germany |
5 |
1 |
+/+ |
AKU_00097 |
13 |
c.1102A>G + c.1102A>G |
r.(?) |
p.(Met368Val) |
M368V |
rs120074173 |
missense |
Hexamer disruption |
de Bernabe et al. (1998) |
- |
AKU_WAL_1b |
substitution |
(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI |
- |
DNA |
SEQ |
exon |
AKU_WAL_1 |
AKU |
Walter et al. (1999), Slovakia (Slovak Republic):Bratislava |
Homozygot |
1 |
Germany |
5 |
1 |
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DNA change |
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Predicted Mutation Effect** |
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Patient/Affected_per_Family |
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+/+ |
AKU_00097 |
13 |
c.1102A>G + c.481G>A |
r.(?) |
p.(Met368Val) |
M368V |
rs120074173 |
missense |
Hexamer disruption |
de Bernabe et al. (1998) |
- |
AKU_DB_188b |
substitution |
(+)BtsIMutI, HpyCH4III, Tsp45I, TspRI |
- |
DNA |
SEQ |
exon |
AKU_DB_188 |
AKU |
Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava |
Compound heterozygous |
1 |
Germany |
1 |
1 |