| Transcript | Gene symbol | Prediction | Tree vote | Model | Prediction problem | Splice site change | Known ClinVar disease mutation | Potential ClinVar disease mutation | Amino acid changes | Variant type | dbSNP ID | Protein length | Features at a glance |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DSG2 | Benign | 0|100 | 3utr | No | Single base exchange | N/A | |||||||
| DSG2 | Benign | 16|84 | simple_ | No | Single base exchange | Normal |
| ||||||
| DSG2 | Benign | 16|84 | simple_ | No | Single base exchange | Normal |
| ||||||
| DSG2 | Benign | 16|84 | simple_ | No | Single base exchange | Normal |
| ||||||
| DSG2 | Benign | 16|84 | simple_ | No | Single base exchange | Normal |
| ||||||
| DSG2 | Benign | 16|84 | simple_ | No | Single base exchange | Normal |
| ||||||
| DSG2 | Benign | 16|84 | simple_ | No | Single base exchange | Normal |
| ||||||
| DSG2 | Benign | 16|84 | simple_ | No | Single base exchange | Normal |
| ||||||
| DSG2 | Benign | 16|84 | simple_ | No | Single base exchange | Normal |
| ||||||
| DSG2 | Benign | 16|84 | simple_ | No | Single base exchange | Normal |
| ||||||
| DSG2 | Benign | 16|84 | simple_ | No | Single base exchange | Normal |
| ||||||
| DSG2 | Benign | 16|84 | simple_ | No | Single base exchange | Normal |
| ||||||
| DSG2 | Benign | 16|84 | simple_ | No | Single base exchange | Normal |
| ||||||
ENST00000261590(MANE Select) | DSG2 | Benign | 42|58 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr18:31546094C>A (GRCh38) | |||||||||||||
| Gene symbol | DSG2 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000713832.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | 3'UTR | |||||||||||||
| DNA changes | cDNA.2828C>A g.48471C>A | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | polyA signal ok | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 18 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered gDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Original cDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered cDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Wildtype AA sequence | MARSPGRAYA LLLLLICFNV GSGLHLQVLS TRNENKLLPK HPHLVRQKRA WITAPVALRE GEDLSKKNPI AKIHSDLAEE RGLKITYKYT GKGITEPPFG IFVFNKDTGE LNVTSILDRE ETPFFLLTGY ALDARGNNVE KPLELRIKVL DINDNEPVFT QDVFVGSVEE LSAAHTLVMK INATDADEPN TLNSKISYRI VSLEPAYPPV FYLNKDTGEI YTTSVTLDRE EHSSYTLTVE ARDGNGEVTD KPVKQAQVQI RILDVNDNIP VVENKVLEGM VEENQVNVEV TRIKVFDADE IGSDNWLANF TFASGNEGGY FHIETDAQTN EGIVTLIKEV DYEEMKNLDF SVIVANKAAF HKSIRSKYKP TPIPIKVKVK NVKEGIHFKS SVISIYVSES MDRSSKGQII GNFQAFDEDT GLPAHARYVK LEDRDNWISV DSVTSEIKLA KLPDFESRYV QNGTYTVKIV AISEDYPRKT ITGTVLINVE DINDNCPTLI EPVQTICHDA EYVNVTAEDL DGHPNSGPFS FSVIDKPPGM AEKWKIARQE STSVLLQQSE KKLGRSEIQF LISDNQGFSC PEKQVLTLTV CECLHGSGCR EAQHDSYVGL GPAAIALMIL AFLLLLLVPL LLLMCHCGKG AKGFTPIPGT IEMLHPWNNE GAPPEDKVVP SFLPVDQGGS LVGRNGVGGM AKEATMKGSS SASIVKGQHE MSEMDGRWEE HRSLLSGRAT QFTGATGAIM TTETTKTARA TGASRDMAGA QAAAVALNEE FLRNYFTDRP LTLRKMKITQ PKIAFWFILR KKLNR* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 125 / 125 | |||||||||||||
| Last intron/exon boundary | 2458 | |||||||||||||
| Theoretical NMD boundary in CDS | 2283 | |||||||||||||
| Length of CDS | 2418 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | 2828 | |||||||||||||
| gDNA position | 48471 | |||||||||||||
| Chromosomal position | 31546094 | |||||||||||||
| Speed | 0.04 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr18:31546094C>A (GRCh38) | |||||||||||||
| Gene symbol | DSG2 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000713762.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2174C>A g.48471C>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 18 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered gDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Original cDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered cDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Wildtype AA sequence | MKINATDADE PNTLNSKISY RIVSLEPAYP PVFYLNKDTG EIYTTSVTLD REEHSSYTLT VEARDGNGEV TDKPVKQAQV QIRILDVNDN IPVVENKVLE GMVEENQVNV EVTRIKVFDA DEIGSDNWLA NFTFASGNEG GYFHIETDAQ TNEGIVTLIK EVDYEEMKNL DFSVIVANKA AFHKSIRSKY KPTPIPIKVK VKNVKEGIHF KSSVISIYVS ESMDRSSKGQ IIGNFQAFDE DTGLPAHARY VKLEDRDNWI SVDSVTSEIK LAKLPDFESR YVQNGTYTVK IVAISEDYPR KTITGTVLIN VEDINDNCPT LIEPVQTICH DAEYVNVTAE DLDGHPNSGP FSFSVIDKPP GMAEKWKIAR QESTSVLLQQ SEKKLGRSEI QFLISDNQGF SCPEKQVLTL TVCECLHGSG CREAQHDSYV GLGPAAIALM ILAFLLLLLV PLLLLMCHCG KGAKGFTPIP GTIEMLHPWN NEGAPPEDKV VPSFLPVDQG GSLVGRNGVG GMAKEATMKG SSSASIVKGQ HEMSEMDGRW EEHRSLLSGR ATQFTGATGA IMTTETTKTA RATGASRDMA GAQAAAVALN EEFLRNYFTD KAASYTEEDE NHTAKDCLLV YSQEETESLN ASIGCCSFIE GELDDRFLDD LGLKFKTLAE VCLGQKIDIN KEIEQRQKPA TETSMNTASH SLCEQTMVNS ENTYSSGSSF PVPKSLQEAN AEKVTQEIVT ERSVSSRQAQ KVATPLPDPM ASRNVIATET SYVTGSTMPP TTVILGPSQP QSLIVTERVY APASTLVDQP YANEGTVVVT ERVIQPHGGG SNPLEGTQHL QDVPYVMVRE RESFLAPSSG VQPTLAMPNI AVGQNVTVTE RVLAPASTLQ SSYQIPTENS MTARNTTVSG AGVPGPLPDF GLEESGHSNS TITTSSTRVT KHSTVQHSYS * | |||||||||||||
| Mutated AA sequence | MKINATDADE PNTLNSKISY RIVSLEPAYP PVFYLNKDTG EIYTTSVTLD REEHSSYTLT VEARDGNGEV TDKPVKQAQV QIRILDVNDN IPVVENKVLE GMVEENQVNV EVTRIKVFDA DEIGSDNWLA NFTFASGNEG GYFHIETDAQ TNEGIVTLIK EVDYEEMKNL DFSVIVANKA AFHKSIRSKY KPTPIPIKVK VKNVKEGIHF KSSVISIYVS ESMDRSSKGQ IIGNFQAFDE DTGLPAHARY VKLEDRDNWI SVDSVTSEIK LAKLPDFESR YVQNGTYTVK IVAISEDYPR KTITGTVLIN VEDINDNCPT LIEPVQTICH DAEYVNVTAE DLDGHPNSGP FSFSVIDKPP GMAEKWKIAR QESTSVLLQQ SEKKLGRSEI QFLISDNQGF SCPEKQVLTL TVCECLHGSG CREAQHDSYV GLGPAAIALM ILAFLLLLLV PLLLLMCHCG KGAKGFTPIP GTIEMLHPWN NEGAPPEDKV VPSFLPVDQG GSLVGRNGVG GMAKEATMKG SSSASIVKGQ HEMSEMDGRW EEHRSLLSGR ATQFTGATGA IMTTETTKTA RATGASRDMA GAQAAAVALN EEFLRNYFTD KAASYTEEDE NHTAKDCLLV YSQEETESLN ASIGCCSFIE GELDDRFLDD LGLKFKTLAE VCLGQKIDIN KEIEQRQKPA TETSMNTASH SLCEQTMVNS ENTYSSGSSF PVPKSLQEAN AEKVNQEIVT ERSVSSRQAQ KVATPLPDPM ASRNVIATET SYVTGSTMPP TTVILGPSQP QSLIVTERVY APASTLVDQP YANEGTVVVT ERVIQPHGGG SNPLEGTQHL QDVPYVMVRE RESFLAPSSG VQPTLAMPNI AVGQNVTVTE RVLAPASTLQ SSYQIPTENS MTARNTTVSG AGVPGPLPDF GLEESGHSNS TITTSSTRVT KHSTVQHSYS * | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2823 / 2823 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 941 / 941 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3636 / 3636 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 814 / 814 | |||||||||||||
| Last intron/exon boundary | 2613 | |||||||||||||
| Theoretical NMD boundary in CDS | 1749 | |||||||||||||
| Length of CDS | 2823 | |||||||||||||
| Coding sequence (CDS) position | 2174 | |||||||||||||
| cDNA position | 2987 | |||||||||||||
| gDNA position | 48471 | |||||||||||||
| Chromosomal position | 31546094 | |||||||||||||
| Speed | 0.04 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr18:31546094C>A (GRCh38) | |||||||||||||
| Gene symbol | DSG2 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000713779.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2174C>A g.48471C>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 18 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered gDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Original cDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered cDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Wildtype AA sequence | MKINATDADE PNTLNSKISY RIVSLEPAYP PVFYLNKDTG EIYTTSVTLD REEHSSYTLT VEARDGNGEV TDKPVKQAQV QIRILDVNDN IPVVENKVLE GMVEENQVNV EVTRIKVFDA DEIGSDNWLA NFTFASGNEG GYFHIETDAQ TNEGIVTLIK EVDYEEMKNL DFSVIVANKA AFHKSIRSKY KPTPIPIKVK VKNVKEGIHF KSSVISIYVS ESMDRSSKGQ IIGNFQAFDE DTGLPAHARY VKLEDRDNWI SVDSVTSEIK LAKLPDFESR YVQNGTYTVK IVAISEDYPR KTITGTVLIN VEDINDNCPT LIEPVQTICH DAEYVNVTAE DLDGHPNSGP FSFSVIDKPP GMAEKWKIAR QESTSVLLQQ SEKKLGRSEI QFLISDNQGF SCPEKQVLTL TVCECLHGSG CREAQHDSYV GLGPAAIALM ILAFLLLLLV PLLLLMCHCG KGAKGFTPIP GTIEMLHPWN NEGAPPEDKV VPSFLPVDQG GSLVGRNGVG GMAKEATMKG SSSASIVKGQ HEMSEMDGRW EEHRSLLSGR ATQFTGATGA IMTTETTKTA RATGASRDMA GAQAAAVALN EEFLRNYFTD KAASYTEEDE NHTAKDCLLV YSQEETESLN ASIGCCSFIE GELDDRFLDD LGLKFKTLAE VCLGQKIDIN KEIEQRQKPA TETSMNTASH SLCEQTMVNS ENTYSSGSSF PVPKSLQEAN AEKVTQEIVT ERSVSSRQAQ KVATPLPDPM ASRNVIATET SYVTGSTMPP TTVILGPSQP QSLIVTERVY APASTLVDQP YANEGTVVVT ERVIQPHGGG SNPLEGTQHL QDVPYVMVRE RESFLAPSSG VQPTLAMPNI AVGQNVTVTE RVLAPASTLQ SSYQIPTENS MTARNTTVSG AGVPGPLPDF GLEESGHSNS TITTSSTRVT KHSTVQHSYS * | |||||||||||||
| Mutated AA sequence | MKINATDADE PNTLNSKISY RIVSLEPAYP PVFYLNKDTG EIYTTSVTLD REEHSSYTLT VEARDGNGEV TDKPVKQAQV QIRILDVNDN IPVVENKVLE GMVEENQVNV EVTRIKVFDA DEIGSDNWLA NFTFASGNEG GYFHIETDAQ TNEGIVTLIK EVDYEEMKNL DFSVIVANKA AFHKSIRSKY KPTPIPIKVK VKNVKEGIHF KSSVISIYVS ESMDRSSKGQ IIGNFQAFDE DTGLPAHARY VKLEDRDNWI SVDSVTSEIK LAKLPDFESR YVQNGTYTVK IVAISEDYPR KTITGTVLIN VEDINDNCPT LIEPVQTICH DAEYVNVTAE DLDGHPNSGP FSFSVIDKPP GMAEKWKIAR QESTSVLLQQ SEKKLGRSEI QFLISDNQGF SCPEKQVLTL TVCECLHGSG CREAQHDSYV GLGPAAIALM ILAFLLLLLV PLLLLMCHCG KGAKGFTPIP GTIEMLHPWN NEGAPPEDKV VPSFLPVDQG GSLVGRNGVG GMAKEATMKG SSSASIVKGQ HEMSEMDGRW EEHRSLLSGR ATQFTGATGA IMTTETTKTA RATGASRDMA GAQAAAVALN EEFLRNYFTD KAASYTEEDE NHTAKDCLLV YSQEETESLN ASIGCCSFIE GELDDRFLDD LGLKFKTLAE VCLGQKIDIN KEIEQRQKPA TETSMNTASH SLCEQTMVNS ENTYSSGSSF PVPKSLQEAN AEKVNQEIVT ERSVSSRQAQ KVATPLPDPM ASRNVIATET SYVTGSTMPP TTVILGPSQP QSLIVTERVY APASTLVDQP YANEGTVVVT ERVIQPHGGG SNPLEGTQHL QDVPYVMVRE RESFLAPSSG VQPTLAMPNI AVGQNVTVTE RVLAPASTLQ SSYQIPTENS MTARNTTVSG AGVPGPLPDF GLEESGHSNS TITTSSTRVT KHSTVQHSYS * | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2823 / 2823 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 941 / 941 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3357 / 3357 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 535 / 535 | |||||||||||||
| Last intron/exon boundary | 2334 | |||||||||||||
| Theoretical NMD boundary in CDS | 1749 | |||||||||||||
| Length of CDS | 2823 | |||||||||||||
| Coding sequence (CDS) position | 2174 | |||||||||||||
| cDNA position | 2708 | |||||||||||||
| gDNA position | 48471 | |||||||||||||
| Chromosomal position | 31546094 | |||||||||||||
| Speed | 0.04 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr18:31546094C>A (GRCh38) | |||||||||||||
| Gene symbol | DSG2 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000713780.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2174C>A g.48471C>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 18 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered gDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Original cDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered cDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Wildtype AA sequence | MKINATDADE PNTLNSKISY RIVSLEPAYP PVFYLNKDTG EIYTTSVTLD REEHSSYTLT VEARDGNGEV TDKPVKQAQV QIRILDVNDN IPVVENKVLE GMVEENQVNV EVTRIKVFDA DEIGSDNWLA NFTFASGNEG GYFHIETDAQ TNEGIVTLIK EVDYEEMKNL DFSVIVANKA AFHKSIRSKY KPTPIPIKVK VKNVKEGIHF KSSVISIYVS ESMDRSSKGQ IIGNFQAFDE DTGLPAHARY VKLEDRDNWI SVDSVTSEIK LAKLPDFESR YVQNGTYTVK IVAISEDYPR KTITGTVLIN VEDINDNCPT LIEPVQTICH DAEYVNVTAE DLDGHPNSGP FSFSVIDKPP GMAEKWKIAR QESTSVLLQQ SEKKLGRSEI QFLISDNQGF SCPEKQVLTL TVCECLHGSG CREAQHDSYV GLGPAAIALM ILAFLLLLLV PLLLLMCHCG KGAKGFTPIP GTIEMLHPWN NEGAPPEDKV VPSFLPVDQG GSLVGRNGVG GMAKEATMKG SSSASIVKGQ HEMSEMDGRW EEHRSLLSGR ATQFTGATGA IMTTETTKTA RATGASRDMA GAQAAAVALN EEFLRNYFTD KAASYTEEDE NHTAKDCLLV YSQEETESLN ASIGCCSFIE GELDDRFLDD LGLKFKTLAE VCLGQKIDIN KEIEQRQKPA TETSMNTASH SLCEQTMVNS ENTYSSGSSF PVPKSLQEAN AEKVTQEIVT ERSVSSRQAQ KVATPLPDPM ASRNVIATET SYVTGSTMPP TTVILGPSQP QSLIVTERVY APASTLVDQP YANEGTVVVT ERVIQPHGGG SNPLEGTQHL QDVPYVMVRE RESFLAPSSG VQPTLAMPNI AVGQNVTVTE RVLAPASTLQ SSYQIPTENS MTARNTTVSG AGVPGPLPDF GLEESGHSNS TITTSSTRVT KHSTVQHSYS * | |||||||||||||
| Mutated AA sequence | MKINATDADE PNTLNSKISY RIVSLEPAYP PVFYLNKDTG EIYTTSVTLD REEHSSYTLT VEARDGNGEV TDKPVKQAQV QIRILDVNDN IPVVENKVLE GMVEENQVNV EVTRIKVFDA DEIGSDNWLA NFTFASGNEG GYFHIETDAQ TNEGIVTLIK EVDYEEMKNL DFSVIVANKA AFHKSIRSKY KPTPIPIKVK VKNVKEGIHF KSSVISIYVS ESMDRSSKGQ IIGNFQAFDE DTGLPAHARY VKLEDRDNWI SVDSVTSEIK LAKLPDFESR YVQNGTYTVK IVAISEDYPR KTITGTVLIN VEDINDNCPT LIEPVQTICH DAEYVNVTAE DLDGHPNSGP FSFSVIDKPP GMAEKWKIAR QESTSVLLQQ SEKKLGRSEI QFLISDNQGF SCPEKQVLTL TVCECLHGSG CREAQHDSYV GLGPAAIALM ILAFLLLLLV PLLLLMCHCG KGAKGFTPIP GTIEMLHPWN NEGAPPEDKV VPSFLPVDQG GSLVGRNGVG GMAKEATMKG SSSASIVKGQ HEMSEMDGRW EEHRSLLSGR ATQFTGATGA IMTTETTKTA RATGASRDMA GAQAAAVALN EEFLRNYFTD KAASYTEEDE NHTAKDCLLV YSQEETESLN ASIGCCSFIE GELDDRFLDD LGLKFKTLAE VCLGQKIDIN KEIEQRQKPA TETSMNTASH SLCEQTMVNS ENTYSSGSSF PVPKSLQEAN AEKVNQEIVT ERSVSSRQAQ KVATPLPDPM ASRNVIATET SYVTGSTMPP TTVILGPSQP QSLIVTERVY APASTLVDQP YANEGTVVVT ERVIQPHGGG SNPLEGTQHL QDVPYVMVRE RESFLAPSSG VQPTLAMPNI AVGQNVTVTE RVLAPASTLQ SSYQIPTENS MTARNTTVSG AGVPGPLPDF GLEESGHSNS TITTSSTRVT KHSTVQHSYS * | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2823 / 2823 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 941 / 941 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3703 / 3703 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 881 / 881 | |||||||||||||
| Last intron/exon boundary | 2680 | |||||||||||||
| Theoretical NMD boundary in CDS | 1749 | |||||||||||||
| Length of CDS | 2823 | |||||||||||||
| Coding sequence (CDS) position | 2174 | |||||||||||||
| cDNA position | 3054 | |||||||||||||
| gDNA position | 48471 | |||||||||||||
| Chromosomal position | 31546094 | |||||||||||||
| Speed | 0.09 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr18:31546094C>A (GRCh38) | |||||||||||||
| Gene symbol | DSG2 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000713818.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2375C>A g.48471C>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 18 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered gDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Original cDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered cDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Wildtype AA sequence | MARSPGRAYA LLLLLICFNV GSGLHLQVLS TRNENKLLPK HPHLVRQKRA WITAPVALRE GEDLSKKNPI AKIHSDLAEE RGLKITYKYT GKGITEPPFG IFVFNKDTGE LNVTSILDRE ETPFFLLTGY ALDARGNNVE KPLELRIKVL DINDNEPVFT QDVFVGSVEE LSAAHTLVMK INATDADEPN TLNSKISYRI VSLEPAYPPV FYLNKDTGEI YTTSVTLDRE EHSSYTLTVE ARDGNGEVTD KPVKQAQVQI RILDVNDNIP VVENKVLEGM VEENQVNVEV TRIKVFDADE IGSDNWLANF TFASGNEGGY FHIETDAQTN EGIVTLIKEV DYEEMKNLDF SVIVANKAAF HKSIRSKYKP TPIPIKVKVK NVKEGIHFKS SVISIYVSES MDRSSKGQII GNFQAFDEDT GLPAHARYVK LEDRDNWISV DSVTSEIKLA KLPDFESRYV QNGTYTVKIV AISEDYPRKT ITGTVLINVE DINDNCPTLI EPVQTICHDA EYVNVTAEDL DGHPNSGPFS FSVIDKPPGM AEKWKIARQE STSVLLQQSE KKLGRSEIQF LISDNQGFSC PEKQVLTLTV CECLHGSGCR EAQHDSYVGL GPAAIALMIL AFLLLLLVPL LLLMCHCGKG AKGFTPIPGT IEMLHPWNNE GAPPEDKKAA SYTEEDENHT AKDCLLVYSQ EETESLNASI GCCSFIEGEL DDRFLDDLGL KFKTLAEVCL GQKIDINKEI EQRQKPATET SMNTASHSLC EQTMVNSENT YSSGSSFPVP KSLQEANAEK VTQEIVTERS VSSRQAQKVA TPLPDPMASR NVIATETSYV TGSTMPPTTV ILGPSQPQSL IVTERVYAPA STLVDQPYAN EGTVVVTERV IQPHGGGSNP LEGTQHLQDV PYVMVRERES FLAPSSGVQP TLAMPNIAVG QNVTVTERVL APASTLQSSY QIPTENSMTA RNTTVSGAGV PGPLPDFGLE ESGHSNSTIT TSSTRVTKHS TVQHSYS* | |||||||||||||
| Mutated AA sequence | MARSPGRAYA LLLLLICFNV GSGLHLQVLS TRNENKLLPK HPHLVRQKRA WITAPVALRE GEDLSKKNPI AKIHSDLAEE RGLKITYKYT GKGITEPPFG IFVFNKDTGE LNVTSILDRE ETPFFLLTGY ALDARGNNVE KPLELRIKVL DINDNEPVFT QDVFVGSVEE LSAAHTLVMK INATDADEPN TLNSKISYRI VSLEPAYPPV FYLNKDTGEI YTTSVTLDRE EHSSYTLTVE ARDGNGEVTD KPVKQAQVQI RILDVNDNIP VVENKVLEGM VEENQVNVEV TRIKVFDADE IGSDNWLANF TFASGNEGGY FHIETDAQTN EGIVTLIKEV DYEEMKNLDF SVIVANKAAF HKSIRSKYKP TPIPIKVKVK NVKEGIHFKS SVISIYVSES MDRSSKGQII GNFQAFDEDT GLPAHARYVK LEDRDNWISV DSVTSEIKLA KLPDFESRYV QNGTYTVKIV AISEDYPRKT ITGTVLINVE DINDNCPTLI EPVQTICHDA EYVNVTAEDL DGHPNSGPFS FSVIDKPPGM AEKWKIARQE STSVLLQQSE KKLGRSEIQF LISDNQGFSC PEKQVLTLTV CECLHGSGCR EAQHDSYVGL GPAAIALMIL AFLLLLLVPL LLLMCHCGKG AKGFTPIPGT IEMLHPWNNE GAPPEDKKAA SYTEEDENHT AKDCLLVYSQ EETESLNASI GCCSFIEGEL DDRFLDDLGL KFKTLAEVCL GQKIDINKEI EQRQKPATET SMNTASHSLC EQTMVNSENT YSSGSSFPVP KSLQEANAEK VNQEIVTERS VSSRQAQKVA TPLPDPMASR NVIATETSYV TGSTMPPTTV ILGPSQPQSL IVTERVYAPA STLVDQPYAN EGTVVVTERV IQPHGGGSNP LEGTQHLQDV PYVMVRERES FLAPSSGVQP TLAMPNIAVG QNVTVTERVL APASTLQSSY QIPTENSMTA RNTTVSGAGV PGPLPDFGLE ESGHSNSTIT TSSTRVTKHS TVQHSYS* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3024 / 3024 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1008 / 1008 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3324 / 3324 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 301 / 301 | |||||||||||||
| Last intron/exon boundary | 2301 | |||||||||||||
| Theoretical NMD boundary in CDS | 1950 | |||||||||||||
| Length of CDS | 3024 | |||||||||||||
| Coding sequence (CDS) position | 2375 | |||||||||||||
| cDNA position | 2675 | |||||||||||||
| gDNA position | 48471 | |||||||||||||
| Chromosomal position | 31546094 | |||||||||||||
| Speed | 0.07 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr18:31546094C>A (GRCh38) | |||||||||||||
| Gene symbol | DSG2 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000713819.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2699C>A g.48471C>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 18 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered gDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Original cDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered cDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Wildtype AA sequence | MSPSGFLFKL IKICFNVGSG LHLQVLSTRN ENKLLPKHPH LVRQKRAWIT APVALREGED LSKKNPIAKI HSDLAEERGL KITYKYTGKG ITEPPFGIFV FNKDTGELNV TSILDREETP FFLLTGYALD ARGNNVEKPL ELRIKVLDIN DNEPVFTQDV FVGSVEELSA AHTLVMKINA TDADEPNTLN SKISYRIVSL EPAYPPVFYL NKDTGEIYTT SVTLDREEHS SYTLTVEARD GNGEVTDKPV KQAQVQIRIL DVNDNIPVVE NKVLEGMVEE NQVNVEVTRI KVFDADEIGS DNWLANFTFA SGNEGGYFHI ETDAQTNEGI VTLIKEVDYE EMKNLDFSVI VANKAAFHKS IRSKYKPTPI PIKVKVKNVK EGIHFKSSVI SIYVSESMDR SSKGQIIGNF QAFDEDTGLP AHARYVKLED RDNWISVDSV TSEIKLAKLP DFESRYVQNG TYTVKIVAIS EDYPRKTITG TVLINVEDIN DNCPTLIEPV QTICHDAEYV NVTAEDLDGH PNSGPFSFSV IDKPPGMAEK WKIARQESTS VLLQQSEKKL GRSEIQFLIS DNQGFSCPEK QVLTLTVCEC LHGSGCREAQ HDSYVGLGPA AIALMILAFL LLLLVPLLLL MCHCGKGAKG FTPIPGTIEM LHPWNNEGAP PEDKVVPSFL PVDQGGSLVG RNGVGGMAKE ATMKGSSSAS IVKGQHEMSE MDGRWEEHRS LLSGRATQFT GATGAIMTTE TTKTARATGA SRDMAGAQAA AVALNEEFLR NYFTDKAASY TEEDENHTAK DCLLVYSQEE TESLNASIGC CSFIEGELDD RFLDDLGLKF KTLAEVCLGQ KIDINKEIEQ RQKPATETSM NTASHSLCEQ TMVNSENTYS SGSSFPVPKS LQEANAEKVT QEIVTERSVS SRQAQKVATP LPDPMASRNV IATETSYVTG STMPPTTVIL GPSQPQSLIV TERVYAPAST LVDQPYANEG TVVVTERVIQ PHGGGSNPLE GTQHLQDVPY VMVRERESFL APSSGVQPTL AMPNIAVGQN VTVTERVLAP ASTLQSSYQI PTENSMTARN TTVSGAGVPG PLPDFGLEES GHSNSTITTS STRVTKHSTV QHSYS* | |||||||||||||
| Mutated AA sequence | MSPSGFLFKL IKICFNVGSG LHLQVLSTRN ENKLLPKHPH LVRQKRAWIT APVALREGED LSKKNPIAKI HSDLAEERGL KITYKYTGKG ITEPPFGIFV FNKDTGELNV TSILDREETP FFLLTGYALD ARGNNVEKPL ELRIKVLDIN DNEPVFTQDV FVGSVEELSA AHTLVMKINA TDADEPNTLN SKISYRIVSL EPAYPPVFYL NKDTGEIYTT SVTLDREEHS SYTLTVEARD GNGEVTDKPV KQAQVQIRIL DVNDNIPVVE NKVLEGMVEE NQVNVEVTRI KVFDADEIGS DNWLANFTFA SGNEGGYFHI ETDAQTNEGI VTLIKEVDYE EMKNLDFSVI VANKAAFHKS IRSKYKPTPI PIKVKVKNVK EGIHFKSSVI SIYVSESMDR SSKGQIIGNF QAFDEDTGLP AHARYVKLED RDNWISVDSV TSEIKLAKLP DFESRYVQNG TYTVKIVAIS EDYPRKTITG TVLINVEDIN DNCPTLIEPV QTICHDAEYV NVTAEDLDGH PNSGPFSFSV IDKPPGMAEK WKIARQESTS VLLQQSEKKL GRSEIQFLIS DNQGFSCPEK QVLTLTVCEC LHGSGCREAQ HDSYVGLGPA AIALMILAFL LLLLVPLLLL MCHCGKGAKG FTPIPGTIEM LHPWNNEGAP PEDKVVPSFL PVDQGGSLVG RNGVGGMAKE ATMKGSSSAS IVKGQHEMSE MDGRWEEHRS LLSGRATQFT GATGAIMTTE TTKTARATGA SRDMAGAQAA AVALNEEFLR NYFTDKAASY TEEDENHTAK DCLLVYSQEE TESLNASIGC CSFIEGELDD RFLDDLGLKF KTLAEVCLGQ KIDINKEIEQ RQKPATETSM NTASHSLCEQ TMVNSENTYS SGSSFPVPKS LQEANAEKVN QEIVTERSVS SRQAQKVATP LPDPMASRNV IATETSYVTG STMPPTTVIL GPSQPQSLIV TERVYAPAST LVDQPYANEG TVVVTERVIQ PHGGGSNPLE GTQHLQDVPY VMVRERESFL APSSGVQPTL AMPNIAVGQN VTVTERVLAP ASTLQSSYQI PTENSMTARN TTVSGAGVPG PLPDFGLEES GHSNSTITTS STRVTKHSTV QHSYS* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3348 / 3348 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1116 / 1116 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3870 / 3870 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 523 / 523 | |||||||||||||
| Last intron/exon boundary | 2847 | |||||||||||||
| Theoretical NMD boundary in CDS | 2274 | |||||||||||||
| Length of CDS | 3348 | |||||||||||||
| Coding sequence (CDS) position | 2699 | |||||||||||||
| cDNA position | 3221 | |||||||||||||
| gDNA position | 48471 | |||||||||||||
| Chromosomal position | 31546094 | |||||||||||||
| Speed | 0.06 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr18:31546094C>A (GRCh38) | |||||||||||||
| Gene symbol | DSG2 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000713821.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2672C>A g.48471C>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 18 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered gDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Original cDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered cDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Wildtype AA sequence | MARSPGRAYA LLLLLVLSTR NENKLLPKHP HLVRQKRAWI TAPVALREGE DLSKKNPIAK IHSDLAEERG LKITYKYTGK GITEPPFGIF VFNKDTGELN VTSILDREET PFFLLTGYAL DARGNNVEKP LELRIKVLDI NDNEPVFTQD VFVGSVEELS AAHTLVMKIN ATDADEPNTL NSKISYRIVS LEPAYPPVFY LNKDTGEIYT TSVTLDREEH SSYTLTVEAR DGNGEVTDKP VKQAQVQIRI LDVNDNIPVV ENKVLEGMVE ENQVNVEVTR IKVFDADEIG SDNWLANFTF ASGNEGGYFH IETDAQTNEG IVTLIKEVDY EEMKNLDFSV IVANKAAFHK SIRSKYKPTP IPIKVKVKNV KEGIHFKSSV ISIYVSESMD RSSKGQIIGN FQAFDEDTGL PAHARYVKLE DRDNWISVDS VTSEIKLAKL PDFESRYVQN GTYTVKIVAI SEDYPRKTIT GTVLINVEDI NDNCPTLIEP VQTICHDAEY VNVTAEDLDG HPNSGPFSFS VIDKPPGMAE KWKIARQEST SVLLQQSEKK LGRSEIQFLI SDNQGFSCPE KQVLTLTVCE CLHGSGCREA QHDSYVGLGP AAIALMILAF LLLLLVPLLL LMCHCGKGAK GFTPIPGTIE MLHPWNNEGA PPEDKVVPSF LPVDQGGSLV GRNGVGGMAK EATMKGSSSA SIVKGQHEMS EMDGRWEEHR SLLSGRATQF TGATGAIMTT ETTKTARATG ASRDMAGAQA AAVALNEEFL RNYFTDKAAS YTEEDENHTA KDCLLVYSQE ETESLNASIG CCSFIEGELD DRFLDDLGLK FKTLAEVCLG QKIDINKEIE QRQKPATETS MNTASHSLCE QTMVNSENTY SSGSSFPVPK SLQEANAEKV TQEIVTERSV SSRQAQKVAT PLPDPMASRN VIATETSYVT GSTMPPTTVI LGPSQPQSLI VTERVYAPAS TLVDQPYANE GTVVVTERVI QPHGGGSNPL EGTQHLQDVP YVMVRERESF LAPSSGVQPT LAMPNIAVGQ NVTVTERVLA PASTLQSSYQ IPTENSMTAR NTTVSGAGVP GPLPDFGLEE SGHSNSTITT SSTRVTKHST VQHSYS* | |||||||||||||
| Mutated AA sequence | MARSPGRAYA LLLLLVLSTR NENKLLPKHP HLVRQKRAWI TAPVALREGE DLSKKNPIAK IHSDLAEERG LKITYKYTGK GITEPPFGIF VFNKDTGELN VTSILDREET PFFLLTGYAL DARGNNVEKP LELRIKVLDI NDNEPVFTQD VFVGSVEELS AAHTLVMKIN ATDADEPNTL NSKISYRIVS LEPAYPPVFY LNKDTGEIYT TSVTLDREEH SSYTLTVEAR DGNGEVTDKP VKQAQVQIRI LDVNDNIPVV ENKVLEGMVE ENQVNVEVTR IKVFDADEIG SDNWLANFTF ASGNEGGYFH IETDAQTNEG IVTLIKEVDY EEMKNLDFSV IVANKAAFHK SIRSKYKPTP IPIKVKVKNV KEGIHFKSSV ISIYVSESMD RSSKGQIIGN FQAFDEDTGL PAHARYVKLE DRDNWISVDS VTSEIKLAKL PDFESRYVQN GTYTVKIVAI SEDYPRKTIT GTVLINVEDI NDNCPTLIEP VQTICHDAEY VNVTAEDLDG HPNSGPFSFS VIDKPPGMAE KWKIARQEST SVLLQQSEKK LGRSEIQFLI SDNQGFSCPE KQVLTLTVCE CLHGSGCREA QHDSYVGLGP AAIALMILAF LLLLLVPLLL LMCHCGKGAK GFTPIPGTIE MLHPWNNEGA PPEDKVVPSF LPVDQGGSLV GRNGVGGMAK EATMKGSSSA SIVKGQHEMS EMDGRWEEHR SLLSGRATQF TGATGAIMTT ETTKTARATG ASRDMAGAQA AAVALNEEFL RNYFTDKAAS YTEEDENHTA KDCLLVYSQE ETESLNASIG CCSFIEGELD DRFLDDLGLK FKTLAEVCLG QKIDINKEIE QRQKPATETS MNTASHSLCE QTMVNSENTY SSGSSFPVPK SLQEANAEKV NQEIVTERSV SSRQAQKVAT PLPDPMASRN VIATETSYVT GSTMPPTTVI LGPSQPQSLI VTERVYAPAS TLVDQPYANE GTVVVTERVI QPHGGGSNPL EGTQHLQDVP YVMVRERESF LAPSSGVQPT LAMPNIAVGQ NVTVTERVLA PASTLQSSYQ IPTENSMTAR NTTVSGAGVP GPLPDFGLEE SGHSNSTITT SSTRVTKHST VQHSYS* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3321 / 3321 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1107 / 1107 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3620 / 3620 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 300 / 300 | |||||||||||||
| Last intron/exon boundary | 2597 | |||||||||||||
| Theoretical NMD boundary in CDS | 2247 | |||||||||||||
| Length of CDS | 3321 | |||||||||||||
| Coding sequence (CDS) position | 2672 | |||||||||||||
| cDNA position | 2971 | |||||||||||||
| gDNA position | 48471 | |||||||||||||
| Chromosomal position | 31546094 | |||||||||||||
| Speed | 0.04 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr18:31546094C>A (GRCh38) | |||||||||||||
| Gene symbol | DSG2 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000713825.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2408C>A g.48471C>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 18 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered gDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Original cDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered cDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Wildtype AA sequence | MARSPGRAYA LLLLLICFNV GSGLHLQVLS TRNENKLLPK HPHLVRQKRA WITAPVALRE GEDLSKKNPI AKLTGYALDA RGNNVEKPLE LRIKVLDIND NEPVFTQDVF VGSVEELSAA HTLVMKINAT DADEPNTLNS KISYRIVSLE PAYPPVFYLN KDTGEIYTTS VTLDRELEGM VEENQVNVEV TRIKVFDADE IGSDNWLANF TFASGNEGGY FHIETDAQTN EGIVTLIKEV DYEEMKNLDF SVIVANKAAF HKSIRSKYKP TPIPIKVKVK NVKEGIHFKS SVISIYVSES MDRSSKGQII GNFQAFDEDT GLPAHARYVK LEDRDNWISV DSVTSEIKLA KLPDFESRYV QNGTYTVKIV AISEDYPRKT ITGTVLINVE DINDNCPTLI EPVQTICHDA EYVNVTAEDL DGHPNSGPFS FSVIDKPPGM AEKWKIARQE STSVLLQQSE KKLGRSEIQF LISDNQGFSC PEKQVLTLTV CECLHGSGCR EAQHDSYVGL GPAAIALMIL AFLLLLLVPL LLLMCHCGKG AKGFTPIPGT IEMLHPWNNE GAPPEDKVVP SFLPVDQGGS LVGRNGVGGM AKEATMKGSS SASIVKGQHE MSEMDGRWEE HRSLLSGRAT QFTGATGAIM TTETTKTARA TGASRDMAGA QAAAVALNEE FLRNYFTDKA ASYTEEDENH TAKDCLLVYS QEETESLNAS IGCCSFIEGE LDDRFLDDLG LKFKTLAEVC LGQKIDINKE IEQRQKPATE TSMNTASHSL CEQTMVNSEN TYSSGSSFPV PKSLQEANAE KVTQEIVTER SVSSRQAQKV ATPLPDPMAS RNVIATETSY VTGSTMPPTT VILGPSQPQS LIVTERVYAP ASTLVDQPYA NEGTVVVTER VIQPHGGGSN PLEGTQHLQD VPYVMVRERE SFLAPSSGVQ PTLAMPNIAV GQNVTVTERV LAPASTLQSS YQIPTENSMT ARNTTVSGAG VPGPLPDFGL EESGHSNSTI TTSSTRVTKH STVQHSYS* | |||||||||||||
| Mutated AA sequence | MARSPGRAYA LLLLLICFNV GSGLHLQVLS TRNENKLLPK HPHLVRQKRA WITAPVALRE GEDLSKKNPI AKLTGYALDA RGNNVEKPLE LRIKVLDIND NEPVFTQDVF VGSVEELSAA HTLVMKINAT DADEPNTLNS KISYRIVSLE PAYPPVFYLN KDTGEIYTTS VTLDRELEGM VEENQVNVEV TRIKVFDADE IGSDNWLANF TFASGNEGGY FHIETDAQTN EGIVTLIKEV DYEEMKNLDF SVIVANKAAF HKSIRSKYKP TPIPIKVKVK NVKEGIHFKS SVISIYVSES MDRSSKGQII GNFQAFDEDT GLPAHARYVK LEDRDNWISV DSVTSEIKLA KLPDFESRYV QNGTYTVKIV AISEDYPRKT ITGTVLINVE DINDNCPTLI EPVQTICHDA EYVNVTAEDL DGHPNSGPFS FSVIDKPPGM AEKWKIARQE STSVLLQQSE KKLGRSEIQF LISDNQGFSC PEKQVLTLTV CECLHGSGCR EAQHDSYVGL GPAAIALMIL AFLLLLLVPL LLLMCHCGKG AKGFTPIPGT IEMLHPWNNE GAPPEDKVVP SFLPVDQGGS LVGRNGVGGM AKEATMKGSS SASIVKGQHE MSEMDGRWEE HRSLLSGRAT QFTGATGAIM TTETTKTARA TGASRDMAGA QAAAVALNEE FLRNYFTDKA ASYTEEDENH TAKDCLLVYS QEETESLNAS IGCCSFIEGE LDDRFLDDLG LKFKTLAEVC LGQKIDINKE IEQRQKPATE TSMNTASHSL CEQTMVNSEN TYSSGSSFPV PKSLQEANAE KVNQEIVTER SVSSRQAQKV ATPLPDPMAS RNVIATETSY VTGSTMPPTT VILGPSQPQS LIVTERVYAP ASTLVDQPYA NEGTVVVTER VIQPHGGGSN PLEGTQHLQD VPYVMVRERE SFLAPSSGVQ PTLAMPNIAV GQNVTVTERV LAPASTLQSS YQIPTENSMT ARNTTVSGAG VPGPLPDFGL EESGHSNSTI TTSSTRVTKH STVQHSYS* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3057 / 3057 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1019 / 1019 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3090 / 3090 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 34 / 34 | |||||||||||||
| Last intron/exon boundary | 2067 | |||||||||||||
| Theoretical NMD boundary in CDS | 1983 | |||||||||||||
| Length of CDS | 3057 | |||||||||||||
| Coding sequence (CDS) position | 2408 | |||||||||||||
| cDNA position | 2441 | |||||||||||||
| gDNA position | 48471 | |||||||||||||
| Chromosomal position | 31546094 | |||||||||||||
| Speed | 0.09 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr18:31546094C>A (GRCh38) | |||||||||||||
| Gene symbol | DSG2 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000713835.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2174C>A g.48471C>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 18 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered gDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Original cDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered cDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Wildtype AA sequence | MKINATDADE PNTLNSKISY RIVSLEPAYP PVFYLNKDTG EIYTTSVTLD REEHSSYTLT VEARDGNGEV TDKPVKQAQV QIRILDVNDN IPVVENKVLE GMVEENQVNV EVTRIKVFDA DEIGSDNWLA NFTFASGNEG GYFHIETDAQ TNEGIVTLIK EVDYEEMKNL DFSVIVANKA AFHKSIRSKY KPTPIPIKVK VKNVKEGIHF KSSVISIYVS ESMDRSSKGQ IIGNFQAFDE DTGLPAHARY VKLEDRDNWI SVDSVTSEIK LAKLPDFESR YVQNGTYTVK IVAISEDYPR KTITGTVLIN VEDINDNCPT LIEPVQTICH DAEYVNVTAE DLDGHPNSGP FSFSVIDKPP GMAEKWKIAR QESTSVLLQQ SEKKLGRSEI QFLISDNQGF SCPEKQVLTL TVCECLHGSG CREAQHDSYV GLGPAAIALM ILAFLLLLLV PLLLLMCHCG KGAKGFTPIP GTIEMLHPWN NEGAPPEDKV VPSFLPVDQG GSLVGRNGVG GMAKEATMKG SSSASIVKGQ HEMSEMDGRW EEHRSLLSGR ATQFTGATGA IMTTETTKTA RATGASRDMA GAQAAAVALN EEFLRNYFTD KAASYTEEDE NHTAKDCLLV YSQEETESLN ASIGCCSFIE GELDDRFLDD LGLKFKTLAE VCLGQKIDIN KEIEQRQKPA TETSMNTASH SLCEQTMVNS ENTYSSGSSF PVPKSLQEAN AEKVTQEIVT ERSVSSRQAQ KVATPLPDPM ASRNVIATET SYVTGSTMPP TTVILGPSQP QSLIVTERVY APASTLVDQP YANEGTVVVT ERVIQPHGGG SNPLEGTQHL QDVPYVMVRE RESFLAPSSG VQPTLAMPNI AVGQNVTVTE RVLAPASTLQ SSYQIPTENS MTARNTTVSG AGVPGPLPDF GLEESGHSNS TITTSSTRVT KHSTVQHSYS * | |||||||||||||
| Mutated AA sequence | MKINATDADE PNTLNSKISY RIVSLEPAYP PVFYLNKDTG EIYTTSVTLD REEHSSYTLT VEARDGNGEV TDKPVKQAQV QIRILDVNDN IPVVENKVLE GMVEENQVNV EVTRIKVFDA DEIGSDNWLA NFTFASGNEG GYFHIETDAQ TNEGIVTLIK EVDYEEMKNL DFSVIVANKA AFHKSIRSKY KPTPIPIKVK VKNVKEGIHF KSSVISIYVS ESMDRSSKGQ IIGNFQAFDE DTGLPAHARY VKLEDRDNWI SVDSVTSEIK LAKLPDFESR YVQNGTYTVK IVAISEDYPR KTITGTVLIN VEDINDNCPT LIEPVQTICH DAEYVNVTAE DLDGHPNSGP FSFSVIDKPP GMAEKWKIAR QESTSVLLQQ SEKKLGRSEI QFLISDNQGF SCPEKQVLTL TVCECLHGSG CREAQHDSYV GLGPAAIALM ILAFLLLLLV PLLLLMCHCG KGAKGFTPIP GTIEMLHPWN NEGAPPEDKV VPSFLPVDQG GSLVGRNGVG GMAKEATMKG SSSASIVKGQ HEMSEMDGRW EEHRSLLSGR ATQFTGATGA IMTTETTKTA RATGASRDMA GAQAAAVALN EEFLRNYFTD KAASYTEEDE NHTAKDCLLV YSQEETESLN ASIGCCSFIE GELDDRFLDD LGLKFKTLAE VCLGQKIDIN KEIEQRQKPA TETSMNTASH SLCEQTMVNS ENTYSSGSSF PVPKSLQEAN AEKVNQEIVT ERSVSSRQAQ KVATPLPDPM ASRNVIATET SYVTGSTMPP TTVILGPSQP QSLIVTERVY APASTLVDQP YANEGTVVVT ERVIQPHGGG SNPLEGTQHL QDVPYVMVRE RESFLAPSSG VQPTLAMPNI AVGQNVTVTE RVLAPASTLQ SSYQIPTENS MTARNTTVSG AGVPGPLPDF GLEESGHSNS TITTSSTRVT KHSTVQHSYS * | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2823 / 2823 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 941 / 941 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3364 / 3364 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 542 / 542 | |||||||||||||
| Last intron/exon boundary | 2341 | |||||||||||||
| Theoretical NMD boundary in CDS | 1749 | |||||||||||||
| Length of CDS | 2823 | |||||||||||||
| Coding sequence (CDS) position | 2174 | |||||||||||||
| cDNA position | 2715 | |||||||||||||
| gDNA position | 48471 | |||||||||||||
| Chromosomal position | 31546094 | |||||||||||||
| Speed | 0.08 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr18:31546094C>A (GRCh38) | |||||||||||||
| Gene symbol | DSG2 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000713823.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2615C>A g.48471C>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 18 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered gDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Original cDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered cDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Wildtype AA sequence | MARSPGRAYA LLLLLICFNV GSGLHLQVLS TRNENKLLPK HPHLVRQKRA WITAPVALRE GEDLSKKNPI AKIHSDLAEE RGLKITYKYT GKGITEPPFG IFVFNKDTGE LNVTSILDRE ETPFFLLTGY ALDARGNNVE KPLELRIKVL DINDNEPVFT QDVFVGSVEE LSAAHTLVMK INATDADEPN TLNSKISYRI VSLEPAYPPV FYLNKDTGEI YTTSVTLDRE EHSSYTLTVE ARDGNGEVTD KPVKQAQVQI RILDVNDNIP VVENKVLEGM VEENQVNVEV TRIKVFDADE IGSDNWLANF TFASGNEGGY FHIETDAQTN EGIVTLIKEV DYEEMKNLDF SVIVANKAAF HKSIRSKYKP TPIPIKVKVK NVKEGIHFKS SVISIYVSES MDRSSKGQII GNFQAFDEDT GLPAHARYVQ NGTYTVKIVA ISEDYPRKTI TGTVLINVED INDNCPTLIE PVQTICHDAE YVNVTAEDLD GHPNSGPFSF SVIDKPPGMA EKWKIARQES TSVLLQQSEK KLGRSEIQFL ISDNQGFSCP EKQVLTLTVC ECLHGSGCRE AQHDSYVGLG PAAIALMILA FLLLLLVPLL LLMCHCGKGA KGFTPIPGTI EMLHPWNNEG APPEDKVVPS FLPVDQGGSL VGRNGVGGMA KEATMKGSSS ASIVKGQHEM SEMDGRWEEH RSLLSGRATQ FTGATGAIMT TETTKTARAT GASRDMAGAQ AAAVALNEEF LRNYFTDKAA SYTEEDENHT AKDCLLVYSQ EETESLNASI GCCSFIEGEL DDRFLDDLGL KFKTLAEVCL GQKIDINKEI EQRQKPATET SMNTASHSLC EQTMVNSENT YSSGSSFPVP KSLQEANAEK VTQEIVTERS VSSRQAQKVA TPLPDPMASR NVIATETSYV TGSTMPPTTV ILGPSQPQSL IVTERVYAPA STLVDQPYAN EGTVVVTERV IQPHGGGSNP LEGTQHLQDV PYVMVRERES FLAPSSGVQP TLAMPNIAVG QNVTVTERVL APASTLQSSY QIPTENSMTA RNTTVSGAGV PGPLPDFGLE ESGHSNSTIT TSSTRVTKHS TVQHSYS* | |||||||||||||
| Mutated AA sequence | MARSPGRAYA LLLLLICFNV GSGLHLQVLS TRNENKLLPK HPHLVRQKRA WITAPVALRE GEDLSKKNPI AKIHSDLAEE RGLKITYKYT GKGITEPPFG IFVFNKDTGE LNVTSILDRE ETPFFLLTGY ALDARGNNVE KPLELRIKVL DINDNEPVFT QDVFVGSVEE LSAAHTLVMK INATDADEPN TLNSKISYRI VSLEPAYPPV FYLNKDTGEI YTTSVTLDRE EHSSYTLTVE ARDGNGEVTD KPVKQAQVQI RILDVNDNIP VVENKVLEGM VEENQVNVEV TRIKVFDADE IGSDNWLANF TFASGNEGGY FHIETDAQTN EGIVTLIKEV DYEEMKNLDF SVIVANKAAF HKSIRSKYKP TPIPIKVKVK NVKEGIHFKS SVISIYVSES MDRSSKGQII GNFQAFDEDT GLPAHARYVQ NGTYTVKIVA ISEDYPRKTI TGTVLINVED INDNCPTLIE PVQTICHDAE YVNVTAEDLD GHPNSGPFSF SVIDKPPGMA EKWKIARQES TSVLLQQSEK KLGRSEIQFL ISDNQGFSCP EKQVLTLTVC ECLHGSGCRE AQHDSYVGLG PAAIALMILA FLLLLLVPLL LLMCHCGKGA KGFTPIPGTI EMLHPWNNEG APPEDKVVPS FLPVDQGGSL VGRNGVGGMA KEATMKGSSS ASIVKGQHEM SEMDGRWEEH RSLLSGRATQ FTGATGAIMT TETTKTARAT GASRDMAGAQ AAAVALNEEF LRNYFTDKAA SYTEEDENHT AKDCLLVYSQ EETESLNASI GCCSFIEGEL DDRFLDDLGL KFKTLAEVCL GQKIDINKEI EQRQKPATET SMNTASHSLC EQTMVNSENT YSSGSSFPVP KSLQEANAEK VNQEIVTERS VSSRQAQKVA TPLPDPMASR NVIATETSYV TGSTMPPTTV ILGPSQPQSL IVTERVYAPA STLVDQPYAN EGTVVVTERV IQPHGGGSNP LEGTQHLQDV PYVMVRERES FLAPSSGVQP TLAMPNIAVG QNVTVTERVL APASTLQSSY QIPTENSMTA RNTTVSGAGV PGPLPDFGLE ESGHSNSTIT TSSTRVTKHS TVQHSYS* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3264 / 3264 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1088 / 1088 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3352 / 3352 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 89 / 89 | |||||||||||||
| Last intron/exon boundary | 2329 | |||||||||||||
| Theoretical NMD boundary in CDS | 2190 | |||||||||||||
| Length of CDS | 3264 | |||||||||||||
| Coding sequence (CDS) position | 2615 | |||||||||||||
| cDNA position | 2703 | |||||||||||||
| gDNA position | 48471 | |||||||||||||
| Chromosomal position | 31546094 | |||||||||||||
| Speed | 0.07 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr18:31546094C>A (GRCh38) | |||||||||||||
| Gene symbol | DSG2 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000713822.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2684C>A g.48471C>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 18 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered gDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Original cDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered cDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Wildtype AA sequence | MLDDGPEICF NVGSGLHLQV LSTRNENKLL PKHPHLVRQK RAWITAPVAL REGEDLSKKN PIAKIHSDLA EERGLKITYK YTGKGITEPP FGIFVFNKDT GELNVTSILD REETPFFLLT GYALDARGNN VEKPLELRIK VLDINDNEPV FTQDVFVGSV EELSAAHTLV MKINATDADE PNTLNSKISY RIVSLEPAYP PVFYLNKDTG EIYTTSVTLD REEHSSYTLT VEARDGNGEV TDKPVKQAQV QIRILDVNDN IPVVENKVLE GMVEENQVNV EVTRIKVFDA DEIGSDNWLA NFTFASGNEG GYFHIETDAQ TNEGIVTLIK EVDYEEMKNL DFSVIVANKA AFHKSIRSKY KPTPIPIKVK VKNVKEGIHF KSSVISIYVS ESMDRSSKGQ IIGNFQAFDE DTGLPAHARY VKLEDRDNWI SVDSVTSEIK LAKLPDFESR YVQNGTYTVK IVAISEDYPR KTITGTVLIN VEDINDNCPT LIEPVQTICH DAEYVNVTAE DLDGHPNSGP FSFSVIDKPP GMAEKWKIAR QESTSVLLQQ SEKKLGRSEI QFLISDNQGF SCPEKQVLTL TVCECLHGSG CREAQHDSYV GLGPAAIALM ILAFLLLLLV PLLLLMCHCG KGAKGFTPIP GTIEMLHPWN NEGAPPEDKV VPSFLPVDQG GSLVGRNGVG GMAKEATMKG SSSASIVKGQ HEMSEMDGRW EEHRSLLSGR ATQFTGATGA IMTTETTKTA RATGASRDMA GAQAAAVALN EEFLRNYFTD KAASYTEEDE NHTAKDCLLV YSQEETESLN ASIGCCSFIE GELDDRFLDD LGLKFKTLAE VCLGQKIDIN KEIEQRQKPA TETSMNTASH SLCEQTMVNS ENTYSSGSSF PVPKSLQEAN AEKVTQEIVT ERSVSSRQAQ KVATPLPDPM ASRNVIATET SYVTGSTMPP TTVILGPSQP QSLIVTERVY APASTLVDQP YANEGTVVVT ERVIQPHGGG SNPLEGTQHL QDVPYVMVRE RESFLAPSSG VQPTLAMPNI AVGQNVTVTE RVLAPASTLQ SSYQIPTENS MTARNTTVSG AGVPGPLPDF GLEESGHSNS TITTSSTRVT KHSTVQHSYS * | |||||||||||||
| Mutated AA sequence | MLDDGPEICF NVGSGLHLQV LSTRNENKLL PKHPHLVRQK RAWITAPVAL REGEDLSKKN PIAKIHSDLA EERGLKITYK YTGKGITEPP FGIFVFNKDT GELNVTSILD REETPFFLLT GYALDARGNN VEKPLELRIK VLDINDNEPV FTQDVFVGSV EELSAAHTLV MKINATDADE PNTLNSKISY RIVSLEPAYP PVFYLNKDTG EIYTTSVTLD REEHSSYTLT VEARDGNGEV TDKPVKQAQV QIRILDVNDN IPVVENKVLE GMVEENQVNV EVTRIKVFDA DEIGSDNWLA NFTFASGNEG GYFHIETDAQ TNEGIVTLIK EVDYEEMKNL DFSVIVANKA AFHKSIRSKY KPTPIPIKVK VKNVKEGIHF KSSVISIYVS ESMDRSSKGQ IIGNFQAFDE DTGLPAHARY VKLEDRDNWI SVDSVTSEIK LAKLPDFESR YVQNGTYTVK IVAISEDYPR KTITGTVLIN VEDINDNCPT LIEPVQTICH DAEYVNVTAE DLDGHPNSGP FSFSVIDKPP GMAEKWKIAR QESTSVLLQQ SEKKLGRSEI QFLISDNQGF SCPEKQVLTL TVCECLHGSG CREAQHDSYV GLGPAAIALM ILAFLLLLLV PLLLLMCHCG KGAKGFTPIP GTIEMLHPWN NEGAPPEDKV VPSFLPVDQG GSLVGRNGVG GMAKEATMKG SSSASIVKGQ HEMSEMDGRW EEHRSLLSGR ATQFTGATGA IMTTETTKTA RATGASRDMA GAQAAAVALN EEFLRNYFTD KAASYTEEDE NHTAKDCLLV YSQEETESLN ASIGCCSFIE GELDDRFLDD LGLKFKTLAE VCLGQKIDIN KEIEQRQKPA TETSMNTASH SLCEQTMVNS ENTYSSGSSF PVPKSLQEAN AEKVNQEIVT ERSVSSRQAQ KVATPLPDPM ASRNVIATET SYVTGSTMPP TTVILGPSQP QSLIVTERVY APASTLVDQP YANEGTVVVT ERVIQPHGGG SNPLEGTQHL QDVPYVMVRE RESFLAPSSG VQPTLAMPNI AVGQNVTVTE RVLAPASTLQ SSYQIPTENS MTARNTTVSG AGVPGPLPDF GLEESGHSNS TITTSSTRVT KHSTVQHSYS * | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3333 / 3333 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1111 / 1111 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3805 / 3805 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 473 / 473 | |||||||||||||
| Last intron/exon boundary | 2782 | |||||||||||||
| Theoretical NMD boundary in CDS | 2259 | |||||||||||||
| Length of CDS | 3333 | |||||||||||||
| Coding sequence (CDS) position | 2684 | |||||||||||||
| cDNA position | 3156 | |||||||||||||
| gDNA position | 48471 | |||||||||||||
| Chromosomal position | 31546094 | |||||||||||||
| Speed | 0.07 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr18:31546094C>A (GRCh38) | |||||||||||||
| Gene symbol | DSG2 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000713824.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2546C>A g.48471C>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 18 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered gDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Original cDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered cDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Wildtype AA sequence | MARSPGRAYA LLLLLICFNV GSGLHLQVLS TRNENKLLPK HPHLVRQKRA WITAPVALRE GEDLSKKNPI AKLTGYALDA RGNNVEKPLE LRIKVLDIND NEPVFTQDVF VGSVEELSAA HTLVMKINAT DADEPNTLNS KISYRIVSLE PAYPPVFYLN KDTGEIYTTS VTLDREEHSS YTLTVEARDG NGEVTDKPVK QAQVQIRILD VNDNIPVVEN KVLEGMVEEN QVNVEVTRIK VFDADEIGSD NWLANFTFAS GNEGGYFHIE TDAQTNEGIV TLIKEVDYEE MKNLDFSVIV ANKAAFHKSI RSKYKPTPIP IKVKVKNVKE GIHFKSSVIS IYVSESMDRS SKGQIIGNFQ AFDEDTGLPA HARYVKLEDR DNWISVDSVT SEIKLAKLPD FESRYVQNGT YTVKIVAISE DYPRKTITGT VLINVEDIND NCPTLIEPVQ TICHDAEYVN VTAEDLDGHP NSGPFSFSVI DKPPGMAEKW KIARQESTSV LLQQSEKKLG RSEIQFLISD NQGFSCPEKQ VLTLTVCECL HGSGCREAQH DSYVGLGPAA IALMILAFLL LLLVPLLLLM CHCGKGAKGF TPIPGTIEML HPWNNEGAPP EDKVVPSFLP VDQGGSLVGR NGVGGMAKEA TMKGSSSASI VKGQHEMSEM DGRWEEHRSL LSGRATQFTG ATGAIMTTET TKTARATGAS RDMAGAQAAA VALNEEFLRN YFTDKAASYT EEDENHTAKD CLLVYSQEET ESLNASIGCC SFIEGELDDR FLDDLGLKFK TLAEVCLGQK IDINKEIEQR QKPATETSMN TASHSLCEQT MVNSENTYSS GSSFPVPKSL QEANAEKVTQ EIVTERSVSS RQAQKVATPL PDPMASRNVI ATETSYVTGS TMPPTTVILG PSQPQSLIVT ERVYAPASTL VDQPYANEGT VVVTERVIQP HGGGSNPLEG TQHLQDVPYV MVRERESFLA PSSGVQPTLA MPNIAVGQNV TVTERVLAPA STLQSSYQIP TENSMTARNT TVSGAGVPGP LPDFGLEESG HSNSTITTSS TRVTKHSTVQ HSYS* | |||||||||||||
| Mutated AA sequence | MARSPGRAYA LLLLLICFNV GSGLHLQVLS TRNENKLLPK HPHLVRQKRA WITAPVALRE GEDLSKKNPI AKLTGYALDA RGNNVEKPLE LRIKVLDIND NEPVFTQDVF VGSVEELSAA HTLVMKINAT DADEPNTLNS KISYRIVSLE PAYPPVFYLN KDTGEIYTTS VTLDREEHSS YTLTVEARDG NGEVTDKPVK QAQVQIRILD VNDNIPVVEN KVLEGMVEEN QVNVEVTRIK VFDADEIGSD NWLANFTFAS GNEGGYFHIE TDAQTNEGIV TLIKEVDYEE MKNLDFSVIV ANKAAFHKSI RSKYKPTPIP IKVKVKNVKE GIHFKSSVIS IYVSESMDRS SKGQIIGNFQ AFDEDTGLPA HARYVKLEDR DNWISVDSVT SEIKLAKLPD FESRYVQNGT YTVKIVAISE DYPRKTITGT VLINVEDIND NCPTLIEPVQ TICHDAEYVN VTAEDLDGHP NSGPFSFSVI DKPPGMAEKW KIARQESTSV LLQQSEKKLG RSEIQFLISD NQGFSCPEKQ VLTLTVCECL HGSGCREAQH DSYVGLGPAA IALMILAFLL LLLVPLLLLM CHCGKGAKGF TPIPGTIEML HPWNNEGAPP EDKVVPSFLP VDQGGSLVGR NGVGGMAKEA TMKGSSSASI VKGQHEMSEM DGRWEEHRSL LSGRATQFTG ATGAIMTTET TKTARATGAS RDMAGAQAAA VALNEEFLRN YFTDKAASYT EEDENHTAKD CLLVYSQEET ESLNASIGCC SFIEGELDDR FLDDLGLKFK TLAEVCLGQK IDINKEIEQR QKPATETSMN TASHSLCEQT MVNSENTYSS GSSFPVPKSL QEANAEKVNQ EIVTERSVSS RQAQKVATPL PDPMASRNVI ATETSYVTGS TMPPTTVILG PSQPQSLIVT ERVYAPASTL VDQPYANEGT VVVTERVIQP HGGGSNPLEG TQHLQDVPYV MVRERESFLA PSSGVQPTLA MPNIAVGQNV TVTERVLAPA STLQSSYQIP TENSMTARNT TVSGAGVPGP LPDFGLEESG HSNSTITTSS TRVTKHSTVQ HSYS* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3195 / 3195 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1065 / 1065 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3255 / 3255 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 61 / 61 | |||||||||||||
| Last intron/exon boundary | 2232 | |||||||||||||
| Theoretical NMD boundary in CDS | 2121 | |||||||||||||
| Length of CDS | 3195 | |||||||||||||
| Coding sequence (CDS) position | 2546 | |||||||||||||
| cDNA position | 2606 | |||||||||||||
| gDNA position | 48471 | |||||||||||||
| Chromosomal position | 31546094 | |||||||||||||
| Speed | 0.09 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr18:31546094C>A (GRCh38) | |||||||||||||
| Gene symbol | DSG2 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000713817.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2699C>A g.48471C>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 18 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered gDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Original cDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||
| Altered cDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||
| Wildtype AA sequence | MSPSGFLFKL IKICFNVGSG LHLQVLSTRN ENKLLPKHPH LVRQKRAWIT APVALREGED LSKKNPIAKI HSDLAEERGL KITYKYTGKG ITEPPFGIFV FNKDTGELNV TSILDREETP FFLLTGYALD ARGNNVEKPL ELRIKVLDIN DNEPVFTQDV FVGSVEELSA AHTLVMKINA TDADEPNTLN SKISYRIVSL EPAYPPVFYL NKDTGEIYTT SVTLDREEHS SYTLTVEARD GNGEVTDKPV KQAQVQIRIL DVNDNIPVVE NKVLEGMVEE NQVNVEVTRI KVFDADEIGS DNWLANFTFA SGNEGGYFHI ETDAQTNEGI VTLIKEVDYE EMKNLDFSVI VANKAAFHKS IRSKYKPTPI PIKVKVKNVK EGIHFKSSVI SIYVSESMDR SSKGQIIGNF QAFDEDTGLP AHARYVKLED RDNWISVDSV TSEIKLAKLP DFESRYVQNG TYTVKIVAIS EDYPRKTITG TVLINVEDIN DNCPTLIEPV QTICHDAEYV NVTAEDLDGH PNSGPFSFSV IDKPPGMAEK WKIARQESTS VLLQQSEKKL GRSEIQFLIS DNQGFSCPEK QVLTLTVCEC LHGSGCREAQ HDSYVGLGPA AIALMILAFL LLLLVPLLLL MCHCGKGAKG FTPIPGTIEM LHPWNNEGAP PEDKVVPSFL PVDQGGSLVG RNGVGGMAKE ATMKGSSSAS IVKGQHEMSE MDGRWEEHRS LLSGRATQFT GATGAIMTTE TTKTARATGA SRDMAGAQAA AVALNEEFLR NYFTDKAASY TEEDENHTAK DCLLVYSQEE TESLNASIGC CSFIEGELDD RFLDDLGLKF KTLAEVCLGQ KIDINKEIEQ RQKPATETSM NTASHSLCEQ TMVNSENTYS SGSSFPVPKS LQEANAEKVT QEIVTERSVS SRQAQKVATP LPDPMASRNV IATETSYVTG STMPPTTVIL GPSQPQSLIV TERVYAPAST LVDQPYANEG TVVVTERVIQ PHGGGSNPLE GTQHLQDVPY VMVRERESFL APSSGVQPTL AMPNIAVGQN VTVTERVLAP ASTLQSSYQI PTENSMTARN TTVSGAGVPG PLPDFGLEES GHSNSTITTS STRVTKHSTV QHSYS* | |||||||||||||
| Mutated AA sequence | MSPSGFLFKL IKICFNVGSG LHLQVLSTRN ENKLLPKHPH LVRQKRAWIT APVALREGED LSKKNPIAKI HSDLAEERGL KITYKYTGKG ITEPPFGIFV FNKDTGELNV TSILDREETP FFLLTGYALD ARGNNVEKPL ELRIKVLDIN DNEPVFTQDV FVGSVEELSA AHTLVMKINA TDADEPNTLN SKISYRIVSL EPAYPPVFYL NKDTGEIYTT SVTLDREEHS SYTLTVEARD GNGEVTDKPV KQAQVQIRIL DVNDNIPVVE NKVLEGMVEE NQVNVEVTRI KVFDADEIGS DNWLANFTFA SGNEGGYFHI ETDAQTNEGI VTLIKEVDYE EMKNLDFSVI VANKAAFHKS IRSKYKPTPI PIKVKVKNVK EGIHFKSSVI SIYVSESMDR SSKGQIIGNF QAFDEDTGLP AHARYVKLED RDNWISVDSV TSEIKLAKLP DFESRYVQNG TYTVKIVAIS EDYPRKTITG TVLINVEDIN DNCPTLIEPV QTICHDAEYV NVTAEDLDGH PNSGPFSFSV IDKPPGMAEK WKIARQESTS VLLQQSEKKL GRSEIQFLIS DNQGFSCPEK QVLTLTVCEC LHGSGCREAQ HDSYVGLGPA AIALMILAFL LLLLVPLLLL MCHCGKGAKG FTPIPGTIEM LHPWNNEGAP PEDKVVPSFL PVDQGGSLVG RNGVGGMAKE ATMKGSSSAS IVKGQHEMSE MDGRWEEHRS LLSGRATQFT GATGAIMTTE TTKTARATGA SRDMAGAQAA AVALNEEFLR NYFTDKAASY TEEDENHTAK DCLLVYSQEE TESLNASIGC CSFIEGELDD RFLDDLGLKF KTLAEVCLGQ KIDINKEIEQ RQKPATETSM NTASHSLCEQ TMVNSENTYS SGSSFPVPKS LQEANAEKVN QEIVTERSVS SRQAQKVATP LPDPMASRNV IATETSYVTG STMPPTTVIL GPSQPQSLIV TERVYAPAST LVDQPYANEG TVVVTERVIQ PHGGGSNPLE GTQHLQDVPY VMVRERESFL APSSGVQPTL AMPNIAVGQN VTVTERVLAP ASTLQSSYQI PTENSMTARN TTVSGAGVPG PLPDFGLEES GHSNSTITTS STRVTKHSTV QHSYS* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3348 / 3348 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1116 / 1116 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3836 / 3836 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 489 / 489 | |||||||||||||
| Last intron/exon boundary | 2813 | |||||||||||||
| Theoretical NMD boundary in CDS | 2274 | |||||||||||||
| Length of CDS | 3348 | |||||||||||||
| Coding sequence (CDS) position | 2699 | |||||||||||||
| cDNA position | 3187 | |||||||||||||
| gDNA position | 48471 | |||||||||||||
| Chromosomal position | 31546094 | |||||||||||||
| Speed | 0.07 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr18:31546094C>A (GRCh38) | |||||||||||||||||||||
| Gene symbol | DSG2 | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.76, LOF (oe): 0.59, misssense (oe): 0.90, synonymous (oe): 0.84 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000261590.13 | |||||||||||||||||||||
| Genbank transcript ID | NM_001943 (exact from MANE) | |||||||||||||||||||||
| UniProt / AlphaMissense peptide | DSG2_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.2708C>A g.48471C>A | |||||||||||||||||||||
| AA changes |
| |||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||
| Length of protein | Normal | |||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||||||||||
| Variant DBs |
| |||||||||||||||||||||
| Protein conservation | ||||||||||||||||||||||
| Protein features |
| |||||||||||||||||||||
| Phylogenetic conservation |
| |||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||||||||||
| Distance from splice site | N/A | |||||||||||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||||||||||
| poly(A) signal | N/A | |||||||||||||||||||||
| AA sequence altered | Yes | |||||||||||||||||||||
| Chromosome | 18 | |||||||||||||||||||||
| Strand | 1 | |||||||||||||||||||||
| Original gDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||||||||||
| Altered gDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||||||||||
| Original cDNA sequence snippet | AGCCAATGCAGAGAAAGTAACTCAGGAAATAGTCACTGAAA | |||||||||||||||||||||
| Altered cDNA sequence snippet | AGCCAATGCAGAGAAAGTAAATCAGGAAATAGTCACTGAAA | |||||||||||||||||||||
| Wildtype AA sequence | MARSPGRAYA LLLLLICFNV GSGLHLQVLS TRNENKLLPK HPHLVRQKRA WITAPVALRE GEDLSKKNPI AKIHSDLAEE RGLKITYKYT GKGITEPPFG IFVFNKDTGE LNVTSILDRE ETPFFLLTGY ALDARGNNVE KPLELRIKVL DINDNEPVFT QDVFVGSVEE LSAAHTLVMK INATDADEPN TLNSKISYRI VSLEPAYPPV FYLNKDTGEI YTTSVTLDRE EHSSYTLTVE ARDGNGEVTD KPVKQAQVQI RILDVNDNIP VVENKVLEGM VEENQVNVEV TRIKVFDADE IGSDNWLANF TFASGNEGGY FHIETDAQTN EGIVTLIKEV DYEEMKNLDF SVIVANKAAF HKSIRSKYKP TPIPIKVKVK NVKEGIHFKS SVISIYVSES MDRSSKGQII GNFQAFDEDT GLPAHARYVK LEDRDNWISV DSVTSEIKLA KLPDFESRYV QNGTYTVKIV AISEDYPRKT ITGTVLINVE DINDNCPTLI EPVQTICHDA EYVNVTAEDL DGHPNSGPFS FSVIDKPPGM AEKWKIARQE STSVLLQQSE KKLGRSEIQF LISDNQGFSC PEKQVLTLTV CECLHGSGCR EAQHDSYVGL GPAAIALMIL AFLLLLLVPL LLLMCHCGKG AKGFTPIPGT IEMLHPWNNE GAPPEDKVVP SFLPVDQGGS LVGRNGVGGM AKEATMKGSS SASIVKGQHE MSEMDGRWEE HRSLLSGRAT QFTGATGAIM TTETTKTARA TGASRDMAGA QAAAVALNEE FLRNYFTDKA ASYTEEDENH TAKDCLLVYS QEETESLNAS IGCCSFIEGE LDDRFLDDLG LKFKTLAEVC LGQKIDINKE IEQRQKPATE TSMNTASHSL CEQTMVNSEN TYSSGSSFPV PKSLQEANAE KVTQEIVTER SVSSRQAQKV ATPLPDPMAS RNVIATETSY VTGSTMPPTT VILGPSQPQS LIVTERVYAP ASTLVDQPYA NEGTVVVTER VIQPHGGGSN PLEGTQHLQD VPYVMVRERE SFLAPSSGVQ PTLAMPNIAV GQNVTVTERV LAPASTLQSS YQIPTENSMT ARNTTVSGAG VPGPLPDFGL EESGHSNSTI TTSSTRVTKH STVQHSYS* | |||||||||||||||||||||
| Mutated AA sequence | MARSPGRAYA LLLLLICFNV GSGLHLQVLS TRNENKLLPK HPHLVRQKRA WITAPVALRE GEDLSKKNPI AKIHSDLAEE RGLKITYKYT GKGITEPPFG IFVFNKDTGE LNVTSILDRE ETPFFLLTGY ALDARGNNVE KPLELRIKVL DINDNEPVFT QDVFVGSVEE LSAAHTLVMK INATDADEPN TLNSKISYRI VSLEPAYPPV FYLNKDTGEI YTTSVTLDRE EHSSYTLTVE ARDGNGEVTD KPVKQAQVQI RILDVNDNIP VVENKVLEGM VEENQVNVEV TRIKVFDADE IGSDNWLANF TFASGNEGGY FHIETDAQTN EGIVTLIKEV DYEEMKNLDF SVIVANKAAF HKSIRSKYKP TPIPIKVKVK NVKEGIHFKS SVISIYVSES MDRSSKGQII GNFQAFDEDT GLPAHARYVK LEDRDNWISV DSVTSEIKLA KLPDFESRYV QNGTYTVKIV AISEDYPRKT ITGTVLINVE DINDNCPTLI EPVQTICHDA EYVNVTAEDL DGHPNSGPFS FSVIDKPPGM AEKWKIARQE STSVLLQQSE KKLGRSEIQF LISDNQGFSC PEKQVLTLTV CECLHGSGCR EAQHDSYVGL GPAAIALMIL AFLLLLLVPL LLLMCHCGKG AKGFTPIPGT IEMLHPWNNE GAPPEDKVVP SFLPVDQGGS LVGRNGVGGM AKEATMKGSS SASIVKGQHE MSEMDGRWEE HRSLLSGRAT QFTGATGAIM TTETTKTARA TGASRDMAGA QAAAVALNEE FLRNYFTDKA ASYTEEDENH TAKDCLLVYS QEETESLNAS IGCCSFIEGE LDDRFLDDLG LKFKTLAEVC LGQKIDINKE IEQRQKPATE TSMNTASHSL CEQTMVNSEN TYSSGSSFPV PKSLQEANAE KVNQEIVTER SVSSRQAQKV ATPLPDPMAS RNVIATETSY VTGSTMPPTT VILGPSQPQS LIVTERVYAP ASTLVDQPYA NEGTVVVTER VIQPHGGGSN PLEGTQHLQD VPYVMVRERE SFLAPSSGVQ PTLAMPNIAV GQNVTVTERV LAPASTLQSS YQIPTENSMT ARNTTVSGAG VPGPLPDFGL EESGHSNSTI TTSSTRVTKH STVQHSYS* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 3357 / 3357 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1119 / 1119 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 3432 / 3432 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 76 / 76 | |||||||||||||||||||||
| Last intron/exon boundary | 2409 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 2283 | |||||||||||||||||||||
| Length of CDS | 3357 | |||||||||||||||||||||
| Coding sequence (CDS) position | 2708 | |||||||||||||||||||||
| cDNA position | 2783 | |||||||||||||||||||||
| gDNA position | 48471 | |||||||||||||||||||||
| Chromosomal position | 31546094 | |||||||||||||||||||||
| Speed | 0.04 s | |||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project