LOVD - Variant listings for HGD

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Predicted Mutation Effect** Hide Predicted Mutation Effect** column Descending
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+/+ AKU_00042 07 c.457dupG
    + c.481G>A
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_101a insertion - - DNA SEQ exon AKU_DB_101 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00042 07 c.457dupG
    + c.1111dupC
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_103a insertion - - DNA SEQ exon AKU_DB_103 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00042 07 c.457dupG
    + c.457dupG
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_28a insertion - - DNA SEQ exon AKU_DB_28 AKU Porfirio et al. (2000), Italy:Florence Homozygot 1 Italy 2 1
+/+ AKU_00042 07 c.457dupG
    + c.457dupG
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_28b insertion - - DNA SEQ exon AKU_DB_28 AKU Porfirio et al. (2000), Italy:Florence Homozygot 1 Italy 2 1
+/+ AKU_00042 07 c.457dupG
    + c.457dupG
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_39a insertion - - DNA SEQ exon AKU_DB_39 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Homozygot 1 France 2 1
+/+ AKU_00042 07 c.457dupG
    + c.457dupG
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_39b insertion - - DNA SEQ exon AKU_DB_39 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Homozygot 1 France 2 1
+/+ AKU_00042 07 c.457dupG
    + c.899T>G
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_50a insertion - - DNA SEQ exon AKU_DB_50 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 2 1
+/+ AKU_00042 07 c.457dupG
    + c.342+1G>A
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_51c insertion - - DNA SEQ exon AKU_DB_51 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 2 1
+/+ AKU_00042 07 c.457dupG
    + c.457dupG
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_55a insertion - - DNA SEQ exon AKU_DB_55 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 2 1
+/+ AKU_00042 07 c.457dupG
    + c.457dupG
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_55b insertion - - DNA SEQ exon AKU_DB_55 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 2 1
+/+ AKU_00042 07 c.457dupG
    + c.481G>A
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_58a insertion - - DNA SEQ exon AKU_DB_58 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00042 07 c.457dupG
    + c.457dupG
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_60a insertion - - DNA SEQ exon AKU_DB_60 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00042 07 c.457dupG
    + c.457dupG
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_60b insertion - - DNA SEQ exon AKU_DB_60 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00042 07 c.457dupG
    + c.481G>A
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_61a insertion - - DNA SEQ exon AKU_DB_61 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 2 1
+/+ AKU_00042 07 c.457dupG
    + c.808G>A
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_61a insertion - - DNA SEQ exon AKU_DB_61 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 2 1
+/+ AKU_00042 07 c.457dupG
    + c.457dupG
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_70a insertion - - DNA SEQ exon AKU_DB_70 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00042 07 c.457dupG
    + c.457dupG
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_70b insertion - - DNA SEQ exon AKU_DB_70 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00042 07 c.457dupG
    + c.16-1G>A
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_71b insertion - - DNA SEQ exon AKU_DB_71 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00042 07 c.457dupG
    + c.652delG
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_97a insertion - - DNA SEQ exon AKU_DB_97 AKU Zatkova et al. (2012), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 France/Algeria 1 1
+/+ AKU_00042 07 c.457dupG
    + c.481G>A
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_SRS_14b insertion - - DNA SEQ exon AKU_SRS_14 AKU Srsen et al. (2002), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 2 1
+/+ AKU_00042 07 c.457dupG
    + c.481G>A
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_VIL_38a insertion - - DNA SEQ exon AKU_VIL_38 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 USA 1 1
+/+ AKU_00042 07 c.457dupG
    + c.457dupG
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_VIL_84a insertion - - DNA SEQ exon AKU_VIL_84 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Homozygot 1 USA 1 1
+/+ AKU_00042 07 c.457dupG
    + c.457dupG
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_VIL_84b insertion - - DNA SEQ exon AKU_VIL_84 AKU Vilboux et al. (2009), Slovakia (Slovak Republic):Bratislava Homozygot 1 USA 1 1
+/+ AKU_00042 07 c.457dupG
    + c.1111dupC
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_ZAT_2a insertion - - DNA SEQ exon AKU_ZAT_2 AKU Zatkova et al. (2000b), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00042 07 c.457dupG
    + c.175delA
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_147a insertion - - DNA SEQ exon AKU_DB_147 AKU Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 2 1
+/+ AKU_00042 07 c.457dupG
    + c.457dupG
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_151a insertion - - DNA SEQ exon AKU_DB_151 AKU Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava Homozygot 1 Macedonia 1 1
+/+ AKU_00042 07 c.457dupG
    + c.457dupG
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_151b insertion - - DNA SEQ exon AKU_DB_151 AKU Nemethova et al. (2016), Slovakia (Slovak Republic):Bratislava Homozygot 1 Macedonia 1 1
+/+ AKU_00042 07 c.457dupG
    + c.469+2T>C
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_179b insertion - - DNA SEQ exon AKU_DB_179 AKU Nemethova et al. (2016), France:Marseilles Compound heterozygous 1 France 1 1
+/+ AKU_00042 07 c.457dupG
    + c.899T>G
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_229a insertion - - DNA SEQ exon AKU_DB_229 AKU Ascher et al. (2019), Italy:Florence Compound heterozygous 1 Italy 1 1
+/+ AKU_00042 07 c.457dupG
    + c.808G>A
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_237a insertion - - DNA SEQ exon AKU_DB_237 AKU Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00042 07 c.457dupG
    + c.481G>A
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_241b insertion - - DNA SEQ exon AKU_DB_241 AKU Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 France 1 1
+/+ AKU_00042 07 c.457dupG
    + c.1201G>C
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_251b insertion - - DNA SEQ exon AKU_DB_251 AKU submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Italy 2 1
+/+ AKU_00042 07 c.457dupG
    + c.899T>G
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_277a insertion - - DNA SEQ exon AKU_DB_277 AKU submitted, Dr. Andrea Zatkova, Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Italy 1 1
+/+ AKU_00042 07 c.457dupG
    + c.16-1G>A, c.16-1G>A
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_TR2_0129c insertion - - DNA SEQ exon AKU_TR2_0129 AKU Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Romania 1 1
+/+ AKU_00042 07 c.457dupG
    + c.1102A>G
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_TR2_0317b insertion - - DNA SEQ exon AKU_TR2_0317 AKU Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 France/Vietnam 2 1
+/+ AKU_00042 07 c.457dupG
    + c.457dupG
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_TR2_0204a insertion - - DNA SEQ exon AKU_TR2_0204 AKU Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00042 07 c.457dupG
    + c.457dupG
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_TR2_0204b insertion - - DNA SEQ exon AKU_TR2_0204 AKU Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00042 07 c.457dupG
    + c.688C>T
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_TR2_0219a insertion - - DNA SEQ exon AKU_TR2_0219 AKU Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava Compound heterozygous 1 Slovakia 1 1
+/+ AKU_00042 07 c.457dupG
    + c.457dupG
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_TR2_0226a insertion - - DNA SEQ exon AKU_TR2_0226 AKU Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00042 07 c.457dupG
    + c.457dupG
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_TR2_0226b insertion - - DNA SEQ exon AKU_TR2_0226 AKU Ascher et al. (2019), Slovakia (Slovak Republic):Bratislava Homozygot 1 Slovakia 1 1
+/+ AKU_00042 07 c.457dupG
    + c.1112A>G
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_318a insertion - - DNA SEQ exon AKU_DB_318 AKU Soltysova et al. (2021), Russia:Moscow Compound heterozygous 1 Russia 1 1
+/+ AKU_00042 07 c.457dupG
    + c.481G>A
r.(?) p.(Asp153Glyfs*26) D153fs (G152fs) rs397515346 frameshift - Gehrig et al. (1997) CCC triplet AKU_DB_370a insertion - - DNA SEQ exon AKU_DB_370 AKU Bychkov et al. (2021), Russia:Moscow Compound heterozygous 1 Russia 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