| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000440232(MANE Select) | POLD1 | Deleterious | 87|13 | simple_ | No | Single base exchange | Normal |
| |||||
| POLD1 | Deleterious | 88|12 | simple_ | No | Single base exchange | Normal |
| ||||||
| POLD1 | Deleterious | 88|12 | simple_ | No | Single base exchange | Normal |
| ||||||
| POLD1 | Deleterious | 89|11 | simple_ | No | Single base exchange | Normal |
| ||||||
| POLD1 | Deleterious | 91|9 | simple_ | No | Single base exchange | Normal |
| ||||||
| POLD1 | Deleterious | 91|9 | simple_ | No | Single base exchange | Normal |
| ||||||
| POLD1 | Deleterious | 91|9 | simple_ | No | Single base exchange | Normal |
| ||||||
| POLD1 | Deleterious | 91|9 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr19:50415766C>A (GRCh38) | ||||||||||||||||
| Gene symbol | POLD1 | ||||||||||||||||
| Gene constraints | LOEUF: 0.88, LOF (oe): 0.72, misssense (oe): 0.90, synonymous (oe): 1.11 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000440232.7 | ||||||||||||||||
| Genbank transcript ID | NM_002691 (exact from MANE) | ||||||||||||||||
| UniProt / AlphaMissense peptide | DPOD1_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.2760C>A g.31563C>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 | 19 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | AGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCAT | ||||||||||||||||
| Altered gDNA sequence snippet | AGTGCGCCCAGCCTGGGCGAACGCGTCCCCTACGTGATCAT | ||||||||||||||||
| Original cDNA sequence snippet | AGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCAT | ||||||||||||||||
| Altered cDNA sequence snippet | AGTGCGCCCAGCCTGGGCGAACGCGTCCCCTACGTGATCAT | ||||||||||||||||
| Wildtype AA sequence | MDGKRRPGPG PGVPPKRARG GLWDDDDAPR PSQFEEDLAL MEEMEAEHRL QEQEEEELQS VLEGVADGQV PPSAIDPRWL RPTPPALDPQ TEPLIFQQLE IDHYVGPAQP VPGGPPPSRG SVPVLRAFGV TDEGFSVCCH IHGFAPYFYT PAPPGFGPEH MGDLQRELNL AISRDSRGGR ELTGPAVLAV ELCSRESMFG YHGHGPSPFL RITVALPRLV APARRLLEQG IRVAGLGTPS FAPYEANVDF EIRFMVDTDI VGCNWLELPA GKYALRLKEK ATQCQLEADV LWSDVVSHPP EGPWQRIAPL RVLSFDIECA GRKGIFPEPE RDPVIQICSL GLRWGEPEPF LRLALTLRPC APILGAKVQS YEKEEDLLQA WSTFIRIMDP DVITGYNIQN FDLPYLISRA QTLKVQTFPF LGRVAGLCSN IRDSSFQSKQ TGRRDTKVVS MVGRVQMDML QVLLREYKLR SYTLNAVSFH FLGEQKEDVQ HSIITDLQNG NDQTRRRLAV YCLKDAYLPL RLLERLMVLV NAVEMARVTG VPLSYLLSRG QQVKVVSQLL RQAMHEGLLM PVVKSEGGED YTGATVIEPL KGYYDVPIAT LDFSSLYPSI MMAHNLCYTT LLRPGTAQKL GLTEDQFIRT PTGDEFVKTS VRKGLLPQIL ENLLSARKRA KAELAKETDP LRRQVLDGRQ LALKVSANSV YGFTGAQVGK LPCLEISQSV TGFGRQMIEK TKQLVESKYT VENGYSTSAK VVYGDTDSVM CRFGVSSVAE AMALGREAAD WVSGHFPSPI RLEFEKVYFP YLLISKKRYA GLLFSSRPDA HDRMDCKGLE AVRRDNCPLV ANLVTASLRR LLIDRDPEGA VAHAQDVISD LLCNRIDISQ LVITKELTRA ASDYAGKQAH VELAERMRKR DPGSAPSLGD RVPYVIISAA KGVAAYMKSE DPLFVLEHSL PIDTQYYLEQ QLAKPLLRIF EPILGEGRAE AVLLRGDHTR CKTVLTGKVG GLLAFAKRRN CCIGCRTVLS HQGAVCEFCQ PRESELYQKE VSHLNALEER FSRLWTQCQR CQGSLHEDVI CTSRDCPIFY MRKKVRKDLE DQEQLLRRFG PPGPEAW* | ||||||||||||||||
| Mutated AA sequence | MDGKRRPGPG PGVPPKRARG GLWDDDDAPR PSQFEEDLAL MEEMEAEHRL QEQEEEELQS VLEGVADGQV PPSAIDPRWL RPTPPALDPQ TEPLIFQQLE IDHYVGPAQP VPGGPPPSRG SVPVLRAFGV TDEGFSVCCH IHGFAPYFYT PAPPGFGPEH MGDLQRELNL AISRDSRGGR ELTGPAVLAV ELCSRESMFG YHGHGPSPFL RITVALPRLV APARRLLEQG IRVAGLGTPS FAPYEANVDF EIRFMVDTDI VGCNWLELPA GKYALRLKEK ATQCQLEADV LWSDVVSHPP EGPWQRIAPL RVLSFDIECA GRKGIFPEPE RDPVIQICSL GLRWGEPEPF LRLALTLRPC APILGAKVQS YEKEEDLLQA WSTFIRIMDP DVITGYNIQN FDLPYLISRA QTLKVQTFPF LGRVAGLCSN IRDSSFQSKQ TGRRDTKVVS MVGRVQMDML QVLLREYKLR SYTLNAVSFH FLGEQKEDVQ HSIITDLQNG NDQTRRRLAV YCLKDAYLPL RLLERLMVLV NAVEMARVTG VPLSYLLSRG QQVKVVSQLL RQAMHEGLLM PVVKSEGGED YTGATVIEPL KGYYDVPIAT LDFSSLYPSI MMAHNLCYTT LLRPGTAQKL GLTEDQFIRT PTGDEFVKTS VRKGLLPQIL ENLLSARKRA KAELAKETDP LRRQVLDGRQ LALKVSANSV YGFTGAQVGK LPCLEISQSV TGFGRQMIEK TKQLVESKYT VENGYSTSAK VVYGDTDSVM CRFGVSSVAE AMALGREAAD WVSGHFPSPI RLEFEKVYFP YLLISKKRYA GLLFSSRPDA HDRMDCKGLE AVRRDNCPLV ANLVTASLRR LLIDRDPEGA VAHAQDVISD LLCNRIDISQ LVITKELTRA ASDYAGKQAH VELAERMRKR DPGSAPSLGE RVPYVIISAA KGVAAYMKSE DPLFVLEHSL PIDTQYYLEQ QLAKPLLRIF EPILGEGRAE AVLLRGDHTR CKTVLTGKVG GLLAFAKRRN CCIGCRTVLS HQGAVCEFCQ PRESELYQKE VSHLNALEER FSRLWTQCQR CQGSLHEDVI CTSRDCPIFY MRKKVRKDLE DQEQLLRRFG PPGPEAW* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 3324 / 3324 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1108 / 1108 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 3369 / 3369 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 46 / 46 | ||||||||||||||||
| Last intron/exon boundary | 3263 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 3167 | ||||||||||||||||
| Length of CDS | 3324 | ||||||||||||||||
| Coding sequence (CDS) position | 2760 | ||||||||||||||||
| cDNA position | 2805 | ||||||||||||||||
| gDNA position | 31563 | ||||||||||||||||
| Chromosomal position | 50415766 | ||||||||||||||||
| 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 | Chr19:50415766C>A (GRCh38) | |||||||||||||
| Gene symbol | POLD1 | |||||||||||||
| Gene constraints | LOEUF: 0.90, LOF (oe): 0.74, misssense (oe): 0.91, synonymous (oe): 1.11 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000613923.6 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2688C>A g.31563C>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 | 19 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | AGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCAT | |||||||||||||
| Altered gDNA sequence snippet | AGTGCGCCCAGCCTGGGCGAACGCGTCCCCTACGTGATCAT | |||||||||||||
| Original cDNA sequence snippet | AGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCAT | |||||||||||||
| Altered cDNA sequence snippet | AGTGCGCCCAGCCTGGGCGAACGCGTCCCCTACGTGATCAT | |||||||||||||
| Wildtype AA sequence | MDGKRRPGPG PGVPPKRARG GLWDDDDAPR PSQFEEDLAL MEEMEAEHRL QEQEEEELQS VLEGVADGQV PPSAIDPRWL RPTPPALDPQ TEPLIFQQLE IDHYVGPAQP VPGGPPPSRG SVPVLRAFGV TDEGFSVCCH IHGFAPYFYT PAPPGFGPEH MGDLQRELNL AISRDSRGGR ELTGPAVLAV ELCSRESMFG YHGHGPSPFL RITVALPRLV APARRLLEQG IRVAGLGTPS FAPYEANVDF EIRFMVDTDI VGCNWLELPA GKYALRLKEK ATQCQLEADV LWSDVVSHPP EGPWQRIAPL RVLSFDIECA GRKGIFPEPE RDPVIQICSL GLRWGEPEPF LRLALTLRPC APILGAKVQS YEKEEDLLQA WSTFIRIMDP DVITGYNIQN FDLPYLISRA QTLKVQTFPF LGRVAGLCSN IRDSSFQSKQ TGRRDTKVVS MVGRVQMDML QVLLREYKLR SYTLNAVSFH FLGEQKEDVQ HSIITDLQNG NDQTRRRLAV YCLKDAYLPL RLLERLMVLV NAVEMARVTG VPLSYLLSRG QQVKVVSQLL RQAMHEGLLM PVVKSEGGED YTGATVIEPL KGYYDVPIAT LDFSSLYPSI MMAHNLCYTT LLRPGTAQKL GLTEDQFIRT PTGDEFVKTS VRKGLLPQIL ENLLSARKRA KAELAKETDP LRRQVLDGRQ LALKSVTGFG RQMIEKTKQL VESKYTVENG YSTSAKVVYG DTDSVMCRFG VSSVAEAMAL GREAADWVSG HFPSPIRLEF EKVYFPYLLI SKKRYAGLLF SSRPDAHDRM DCKGLEAVRR DNCPLVANLV TASLRRLLID RDPEGAVAHA QDVISDLLCN RIDISQLVIT KELTRAASDY AGKQAHVELA ERMRKRDPGS APSLGDRVPY VIISAAKGVA AYMKSEDPLF VLEHSLPIDT QYYLEQQLAK PLLRIFEPIL GEGRAEAVLL RGDHTRCKTV LTGKVGGLLA FAKRRNCCIG CRTVLSHQGA VCEFCQPRES ELYQKEVSHL NALEERFSRL WTQCQRCQGS LHEDVICTSR DCPIFYMRKK VRKDLEDQEQ LLRRFGPPGP EAW* | |||||||||||||
| Mutated AA sequence | MDGKRRPGPG PGVPPKRARG GLWDDDDAPR PSQFEEDLAL MEEMEAEHRL QEQEEEELQS VLEGVADGQV PPSAIDPRWL RPTPPALDPQ TEPLIFQQLE IDHYVGPAQP VPGGPPPSRG SVPVLRAFGV TDEGFSVCCH IHGFAPYFYT PAPPGFGPEH MGDLQRELNL AISRDSRGGR ELTGPAVLAV ELCSRESMFG YHGHGPSPFL RITVALPRLV APARRLLEQG IRVAGLGTPS FAPYEANVDF EIRFMVDTDI VGCNWLELPA GKYALRLKEK ATQCQLEADV LWSDVVSHPP EGPWQRIAPL RVLSFDIECA GRKGIFPEPE RDPVIQICSL GLRWGEPEPF LRLALTLRPC APILGAKVQS YEKEEDLLQA WSTFIRIMDP DVITGYNIQN FDLPYLISRA QTLKVQTFPF LGRVAGLCSN IRDSSFQSKQ TGRRDTKVVS MVGRVQMDML QVLLREYKLR SYTLNAVSFH FLGEQKEDVQ HSIITDLQNG NDQTRRRLAV YCLKDAYLPL RLLERLMVLV NAVEMARVTG VPLSYLLSRG QQVKVVSQLL RQAMHEGLLM PVVKSEGGED YTGATVIEPL KGYYDVPIAT LDFSSLYPSI MMAHNLCYTT LLRPGTAQKL GLTEDQFIRT PTGDEFVKTS VRKGLLPQIL ENLLSARKRA KAELAKETDP LRRQVLDGRQ LALKSVTGFG RQMIEKTKQL VESKYTVENG YSTSAKVVYG DTDSVMCRFG VSSVAEAMAL GREAADWVSG HFPSPIRLEF EKVYFPYLLI SKKRYAGLLF SSRPDAHDRM DCKGLEAVRR DNCPLVANLV TASLRRLLID RDPEGAVAHA QDVISDLLCN RIDISQLVIT KELTRAASDY AGKQAHVELA ERMRKRDPGS APSLGERVPY VIISAAKGVA AYMKSEDPLF VLEHSLPIDT QYYLEQQLAK PLLRIFEPIL GEGRAEAVLL RGDHTRCKTV LTGKVGGLLA FAKRRNCCIG CRTVLSHQGA VCEFCQPRES ELYQKEVSHL NALEERFSRL WTQCQRCQGS LHEDVICTSR DCPIFYMRKK VRKDLEDQEQ LLRRFGPPGP EAW* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3252 / 3252 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1084 / 1084 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3313 / 3313 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 62 / 62 | |||||||||||||
| Last intron/exon boundary | 3207 | |||||||||||||
| Theoretical NMD boundary in CDS | 3095 | |||||||||||||
| Length of CDS | 3252 | |||||||||||||
| Coding sequence (CDS) position | 2688 | |||||||||||||
| cDNA position | 2749 | |||||||||||||
| gDNA position | 31563 | |||||||||||||
| Chromosomal position | 50415766 | |||||||||||||
| 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 | Chr19:50415766C>A (GRCh38) | |||||||||||||
| Gene symbol | POLD1 | |||||||||||||
| Gene constraints | LOEUF: 0.93, LOF (oe): 0.77, misssense (oe): 0.92, synonymous (oe): 1.11 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000644560.2 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2766C>A g.31563C>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 | 19 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | AGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCAT | |||||||||||||
| Altered gDNA sequence snippet | AGTGCGCCCAGCCTGGGCGAACGCGTCCCCTACGTGATCAT | |||||||||||||
| Original cDNA sequence snippet | AGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCAT | |||||||||||||
| Altered cDNA sequence snippet | AGTGCGCCCAGCCTGGGCGAACGCGTCCCCTACGTGATCAT | |||||||||||||
| Wildtype AA sequence | MDGKRRPGPG PGVPPKRARG GLWDDDDAPR PSQFEEDLAL MEEMEAEHRL QEQEEEELQS VLEGVADGQV PPSAIDPRWL RPTPPALDPQ TEPLIFQQLE IDHYVGPAQP VPGGPPPSRG SVPVLRAFGV TDEGFSVCCH IHGFAPYFYT PAPPGFGPEH MGDLQRELNL AISRDSRGGR ELTGPAVLAV ELCSRESMFG YHGHGPSPFL RITVALPRLV APARRLLEQG IRVAGLGTPS FAPYEANVDF EIRFMVDTDI VGCNWLELPA GKYALRLKEK ATQCQLEADV LWSDVVSHPP EGPWQRIAPL RVLSFDIECA GRKGIFPEPE RDPVIQICSL GLRWGEPEPF LRLALTLRPC APILGAKVQS YEKEEDLLQA WSTFIRIMDP DVITGYNIQN FDLPYLISRA QTLKVQTFPF LGRVAGLCSN IRDSSFQSKQ TGRRDTKVVS MVGRVQMDML QVLLREYKLR SYTLNAVSFH FLGEQKEDVQ HSIITDLQNG NDQTRRRLAV YCLKDAYLPL RLLERLMVLV NAVEMARVTG VPLSYLLSRG QQVKVVSQLL RQAMHEGLLM PVVKSEGGED YTGATVIEPL KGVRPQDRAG AAWELLALTP GRGCSPPRYY DVPIATLDFS SLYPSIMMAH NLCYTTLLRP GTAQKLGLTE DQFIRTPTGD EFVKTSVRKG LLPQILENLL SARKRAKAEL AKETDPLRRQ VLDGRQLALK SVTGFGRQMI EKTKQLVESK YTVENGYSTS AKVVYGDTDS VMCRFGVSSV AEAMALGREA ADWVSGHFPS PIRLEFEKVY FPYLLISKKR YAGLLFSSRP DAHDRMDCKG LEAVRRDNCP LVANLVTASL RRLLIDRDPE GAVAHAQDVI SDLLCNRIDI SQLVITKELT RAASDYAGKQ AHVELAERMR KRDPGSAPSL GDRVPYVIIS AAKGVAAYMK SEDPLFVLEH SLPIDTQYYL EQQLAKPLLR IFEPILGEGR AEAVLLRGDH TRCKTVLTGK VGGLLAFAKR RNCCIGCRTV LSHQGAVCEF CQPRESELYQ KEVSHLNALE ERFSRLWTQC QRCQGSLHED VICTSRDCPI FYMRKKVRKD LEDQEQLLRR FGPPGPEAW* | |||||||||||||
| Mutated AA sequence | MDGKRRPGPG PGVPPKRARG GLWDDDDAPR PSQFEEDLAL MEEMEAEHRL QEQEEEELQS VLEGVADGQV PPSAIDPRWL RPTPPALDPQ TEPLIFQQLE IDHYVGPAQP VPGGPPPSRG SVPVLRAFGV TDEGFSVCCH IHGFAPYFYT PAPPGFGPEH MGDLQRELNL AISRDSRGGR ELTGPAVLAV ELCSRESMFG YHGHGPSPFL RITVALPRLV APARRLLEQG IRVAGLGTPS FAPYEANVDF EIRFMVDTDI VGCNWLELPA GKYALRLKEK ATQCQLEADV LWSDVVSHPP EGPWQRIAPL RVLSFDIECA GRKGIFPEPE RDPVIQICSL GLRWGEPEPF LRLALTLRPC APILGAKVQS YEKEEDLLQA WSTFIRIMDP DVITGYNIQN FDLPYLISRA QTLKVQTFPF LGRVAGLCSN IRDSSFQSKQ TGRRDTKVVS MVGRVQMDML QVLLREYKLR SYTLNAVSFH FLGEQKEDVQ HSIITDLQNG NDQTRRRLAV YCLKDAYLPL RLLERLMVLV NAVEMARVTG VPLSYLLSRG QQVKVVSQLL RQAMHEGLLM PVVKSEGGED YTGATVIEPL KGVRPQDRAG AAWELLALTP GRGCSPPRYY DVPIATLDFS SLYPSIMMAH NLCYTTLLRP GTAQKLGLTE DQFIRTPTGD EFVKTSVRKG LLPQILENLL SARKRAKAEL AKETDPLRRQ VLDGRQLALK SVTGFGRQMI EKTKQLVESK YTVENGYSTS AKVVYGDTDS VMCRFGVSSV AEAMALGREA ADWVSGHFPS PIRLEFEKVY FPYLLISKKR YAGLLFSSRP DAHDRMDCKG LEAVRRDNCP LVANLVTASL RRLLIDRDPE GAVAHAQDVI SDLLCNRIDI SQLVITKELT RAASDYAGKQ AHVELAERMR KRDPGSAPSL GERVPYVIIS AAKGVAAYMK SEDPLFVLEH SLPIDTQYYL EQQLAKPLLR IFEPILGEGR AEAVLLRGDH TRCKTVLTGK VGGLLAFAKR RNCCIGCRTV LSHQGAVCEF CQPRESELYQ KEVSHLNALE ERFSRLWTQC QRCQGSLHED VICTSRDCPI FYMRKKVRKD LEDQEQLLRR FGPPGPEAW* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3330 / 3330 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1110 / 1110 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3330 / 3330 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | |||||||||||||
| Last intron/exon boundary | 3224 | |||||||||||||
| Theoretical NMD boundary in CDS | 3173 | |||||||||||||
| Length of CDS | 3330 | |||||||||||||
| Coding sequence (CDS) position | 2766 | |||||||||||||
| cDNA position | 2766 | |||||||||||||
| gDNA position | 31563 | |||||||||||||
| Chromosomal position | 50415766 | |||||||||||||
| 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 | Chr19:50415766C>A (GRCh38) | |||||||||||||
| Gene symbol | POLD1 | |||||||||||||
| Gene constraints | LOEUF: 0.91, LOF (oe): 0.75, misssense (oe): 0.91, synonymous (oe): 1.10 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000595904.6 | |||||||||||||
| Genbank transcript ID | NM_001308632 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2838C>A g.31563C>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 | 19 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | AGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCAT | |||||||||||||
| Altered gDNA sequence snippet | AGTGCGCCCAGCCTGGGCGAACGCGTCCCCTACGTGATCAT | |||||||||||||
| Original cDNA sequence snippet | AGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCAT | |||||||||||||
| Altered cDNA sequence snippet | AGTGCGCCCAGCCTGGGCGAACGCGTCCCCTACGTGATCAT | |||||||||||||
| Wildtype AA sequence | MDGKRRPGPG PGVPPKRARG GLWDDDDAPR PSQFEEDLAL MEEMEAEHRL QEQEEEELQS VLEGVADGQV PPSAIDPRWL RPTPPALDPQ TEPLIFQQLE IDHYVGPAQP VPGGPPPSRG SVPVLRAFGV TDEGFSVCCH IHGFAPYFYT PAPPGFGPEH MGDLQRELNL AISRDSRGGR ELTGPAVLAV ELCSRESMFG YHGHGPSPFL RITVALPRLV APARRLLEQG IRVAGLGTPS FAPYEANVDF EIRFMVDTDI VGCNWLELPA GKYALRLKEK ATQCQLEADV LWSDVVSHPP EGPWQRIAPL RVLSFDIECA GRKGIFPEPE RDPVIQICSL GLRWGEPEPF LRLALTLRPC APILGAKVQS YEKEEDLLQA WSTFIRIMDP DVITGYNIQN FDLPYLISRA QTLKVQTFPF LGRVAGLCSN IRDSSFQSKQ TGRRDTKVVS MVGRVQMDML QVLLREYKLR SYTLNAVSFH FLGEQKEDVQ HSIITDLQNG NDQTRRRLAV YCLKDAYLPL RLLERLMVLV NAVEMARVTG VPLSYLLSRG QQVKVVSQLL RQAMHEGLLM PVVKSEGGED YTGATVIEPL KGVRPQDRAG AAWELLALTP GRGCSPPRYY DVPIATLDFS SLYPSIMMAH NLCYTTLLRP GTAQKLGLTE DQFIRTPTGD EFVKTSVRKG LLPQILENLL SARKRAKAEL AKETDPLRRQ VLDGRQLALK VSANSVYGFT GAQVGKLPCL EISQSVTGFG RQMIEKTKQL VESKYTVENG YSTSAKVVYG DTDSVMCRFG VSSVAEAMAL GREAADWVSG HFPSPIRLEF EKVYFPYLLI SKKRYAGLLF SSRPDAHDRM DCKGLEAVRR DNCPLVANLV TASLRRLLID RDPEGAVAHA QDVISDLLCN RIDISQLVIT KELTRAASDY AGKQAHVELA ERMRKRDPGS APSLGDRVPY VIISAAKGVA AYMKSEDPLF VLEHSLPIDT QYYLEQQLAK PLLRIFEPIL GEGRAEAVLL RGDHTRCKTV LTGKVGGLLA FAKRRNCCIG CRTVLSHQGA VCEFCQPRES ELYQKEVSHL NALEERFSRL WTQCQRCQGS LHEDVICTSR DCPIFYMRKK VRKDLEDQEQ LLRRFGPPGP EAW* | |||||||||||||
| Mutated AA sequence | MDGKRRPGPG PGVPPKRARG GLWDDDDAPR PSQFEEDLAL MEEMEAEHRL QEQEEEELQS VLEGVADGQV PPSAIDPRWL RPTPPALDPQ TEPLIFQQLE IDHYVGPAQP VPGGPPPSRG SVPVLRAFGV TDEGFSVCCH IHGFAPYFYT PAPPGFGPEH MGDLQRELNL AISRDSRGGR ELTGPAVLAV ELCSRESMFG YHGHGPSPFL RITVALPRLV APARRLLEQG IRVAGLGTPS FAPYEANVDF EIRFMVDTDI VGCNWLELPA GKYALRLKEK ATQCQLEADV LWSDVVSHPP EGPWQRIAPL RVLSFDIECA GRKGIFPEPE RDPVIQICSL GLRWGEPEPF LRLALTLRPC APILGAKVQS YEKEEDLLQA WSTFIRIMDP DVITGYNIQN FDLPYLISRA QTLKVQTFPF LGRVAGLCSN IRDSSFQSKQ TGRRDTKVVS MVGRVQMDML QVLLREYKLR SYTLNAVSFH FLGEQKEDVQ HSIITDLQNG NDQTRRRLAV YCLKDAYLPL RLLERLMVLV NAVEMARVTG VPLSYLLSRG QQVKVVSQLL RQAMHEGLLM PVVKSEGGED YTGATVIEPL KGVRPQDRAG AAWELLALTP GRGCSPPRYY DVPIATLDFS SLYPSIMMAH NLCYTTLLRP GTAQKLGLTE DQFIRTPTGD EFVKTSVRKG LLPQILENLL SARKRAKAEL AKETDPLRRQ VLDGRQLALK VSANSVYGFT GAQVGKLPCL EISQSVTGFG RQMIEKTKQL VESKYTVENG YSTSAKVVYG DTDSVMCRFG VSSVAEAMAL GREAADWVSG HFPSPIRLEF EKVYFPYLLI SKKRYAGLLF SSRPDAHDRM DCKGLEAVRR DNCPLVANLV TASLRRLLID RDPEGAVAHA QDVISDLLCN RIDISQLVIT KELTRAASDY AGKQAHVELA ERMRKRDPGS APSLGERVPY VIISAAKGVA AYMKSEDPLF VLEHSLPIDT QYYLEQQLAK PLLRIFEPIL GEGRAEAVLL RGDHTRCKTV LTGKVGGLLA FAKRRNCCIG CRTVLSHQGA VCEFCQPRES ELYQKEVSHL NALEERFSRL WTQCQRCQGS LHEDVICTSR DCPIFYMRKK VRKDLEDQEQ LLRRFGPPGP EAW* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3402 / 3402 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1134 / 1134 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3447 / 3447 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 46 / 46 | |||||||||||||
| Last intron/exon boundary | 3341 | |||||||||||||
| Theoretical NMD boundary in CDS | 3245 | |||||||||||||
| Length of CDS | 3402 | |||||||||||||
| Coding sequence (CDS) position | 2838 | |||||||||||||
| cDNA position | 2883 | |||||||||||||
| gDNA position | 31563 | |||||||||||||
| Chromosomal position | 50415766 | |||||||||||||
| 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 | Chr19:50415766C>A (GRCh38) | ||||||||||||||||
| Gene symbol | POLD1 | ||||||||||||||||
| Gene constraints | LOEUF: 0.88, LOF (oe): 0.72, misssense (oe): 0.90, synonymous (oe): 1.11 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000601098.6 | ||||||||||||||||
| Genbank transcript ID | |||||||||||||||||
| UniProt / AlphaMissense peptide | DPOD1_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.2760C>A g.31563C>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 | 19 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | AGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCAT | ||||||||||||||||
| Altered gDNA sequence snippet | AGTGCGCCCAGCCTGGGCGAACGCGTCCCCTACGTGATCAT | ||||||||||||||||
| Original cDNA sequence snippet | AGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCAT | ||||||||||||||||
| Altered cDNA sequence snippet | AGTGCGCCCAGCCTGGGCGAACGCGTCCCCTACGTGATCAT | ||||||||||||||||
| Wildtype AA sequence | MDGKRRPGPG PGVPPKRARG GLWDDDDAPR PSQFEEDLAL MEEMEAEHRL QEQEEEELQS VLEGVADGQV PPSAIDPRWL RPTPPALDPQ TEPLIFQQLE IDHYVGPAQP VPGGPPPSRG SVPVLRAFGV TDEGFSVCCH IHGFAPYFYT PAPPGFGPEH MGDLQRELNL AISRDSRGGR ELTGPAVLAV ELCSRESMFG YHGHGPSPFL RITVALPRLV APARRLLEQG IRVAGLGTPS FAPYEANVDF EIRFMVDTDI VGCNWLELPA GKYALRLKEK ATQCQLEADV LWSDVVSHPP EGPWQRIAPL RVLSFDIECA GRKGIFPEPE RDPVIQICSL GLRWGEPEPF LRLALTLRPC APILGAKVQS YEKEEDLLQA WSTFIRIMDP DVITGYNIQN FDLPYLISRA QTLKVQTFPF LGRVAGLCSN IRDSSFQSKQ TGRRDTKVVS MVGRVQMDML QVLLREYKLR SYTLNAVSFH FLGEQKEDVQ HSIITDLQNG NDQTRRRLAV YCLKDAYLPL RLLERLMVLV NAVEMARVTG VPLSYLLSRG QQVKVVSQLL RQAMHEGLLM PVVKSEGGED YTGATVIEPL KGYYDVPIAT LDFSSLYPSI MMAHNLCYTT LLRPGTAQKL GLTEDQFIRT PTGDEFVKTS VRKGLLPQIL ENLLSARKRA KAELAKETDP LRRQVLDGRQ LALKVSANSV YGFTGAQVGK LPCLEISQSV TGFGRQMIEK TKQLVESKYT VENGYSTSAK VVYGDTDSVM CRFGVSSVAE AMALGREAAD WVSGHFPSPI RLEFEKVYFP YLLISKKRYA GLLFSSRPDA HDRMDCKGLE AVRRDNCPLV ANLVTASLRR LLIDRDPEGA VAHAQDVISD LLCNRIDISQ LVITKELTRA ASDYAGKQAH VELAERMRKR DPGSAPSLGD RVPYVIISAA KGVAAYMKSE DPLFVLEHSL PIDTQYYLEQ QLAKPLLRIF EPILGEGRAE AVLLRGDHTR CKTVLTGKVG GLLAFAKRRN CCIGCRTVLS HQGAVCEFCQ PRESELYQKE VSHLNALEER FSRLWTQCQR CQGSLHEDVI CTSRDCPIFY MRKKVRKDLE DQEQLLRRFG PPGPEAW* | ||||||||||||||||
| Mutated AA sequence | MDGKRRPGPG PGVPPKRARG GLWDDDDAPR PSQFEEDLAL MEEMEAEHRL QEQEEEELQS VLEGVADGQV PPSAIDPRWL RPTPPALDPQ TEPLIFQQLE IDHYVGPAQP VPGGPPPSRG SVPVLRAFGV TDEGFSVCCH IHGFAPYFYT PAPPGFGPEH MGDLQRELNL AISRDSRGGR ELTGPAVLAV ELCSRESMFG YHGHGPSPFL RITVALPRLV APARRLLEQG IRVAGLGTPS FAPYEANVDF EIRFMVDTDI VGCNWLELPA GKYALRLKEK ATQCQLEADV LWSDVVSHPP EGPWQRIAPL RVLSFDIECA GRKGIFPEPE RDPVIQICSL GLRWGEPEPF LRLALTLRPC APILGAKVQS YEKEEDLLQA WSTFIRIMDP DVITGYNIQN FDLPYLISRA QTLKVQTFPF LGRVAGLCSN IRDSSFQSKQ TGRRDTKVVS MVGRVQMDML QVLLREYKLR SYTLNAVSFH FLGEQKEDVQ HSIITDLQNG NDQTRRRLAV YCLKDAYLPL RLLERLMVLV NAVEMARVTG VPLSYLLSRG QQVKVVSQLL RQAMHEGLLM PVVKSEGGED YTGATVIEPL KGYYDVPIAT LDFSSLYPSI MMAHNLCYTT LLRPGTAQKL GLTEDQFIRT PTGDEFVKTS VRKGLLPQIL ENLLSARKRA KAELAKETDP LRRQVLDGRQ LALKVSANSV YGFTGAQVGK LPCLEISQSV TGFGRQMIEK TKQLVESKYT VENGYSTSAK VVYGDTDSVM CRFGVSSVAE AMALGREAAD WVSGHFPSPI RLEFEKVYFP YLLISKKRYA GLLFSSRPDA HDRMDCKGLE AVRRDNCPLV ANLVTASLRR LLIDRDPEGA VAHAQDVISD LLCNRIDISQ LVITKELTRA ASDYAGKQAH VELAERMRKR DPGSAPSLGE RVPYVIISAA KGVAAYMKSE DPLFVLEHSL PIDTQYYLEQ QLAKPLLRIF EPILGEGRAE AVLLRGDHTR CKTVLTGKVG GLLAFAKRRN CCIGCRTVLS HQGAVCEFCQ PRESELYQKE VSHLNALEER FSRLWTQCQR CQGSLHEDVI CTSRDCPIFY MRKKVRKDLE DQEQLLRRFG PPGPEAW* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 3324 / 3324 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1108 / 1108 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 3500 / 3500 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 177 / 177 | ||||||||||||||||
| Last intron/exon boundary | 3394 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 3167 | ||||||||||||||||
| Length of CDS | 3324 | ||||||||||||||||
| Coding sequence (CDS) position | 2760 | ||||||||||||||||
| cDNA position | 2936 | ||||||||||||||||
| gDNA position | 31563 | ||||||||||||||||
| Chromosomal position | 50415766 | ||||||||||||||||
| Speed | 0.10 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 | Chr19:50415766C>A (GRCh38) | ||||||||||||||||
| Gene symbol | POLD1 | ||||||||||||||||
| Gene constraints | LOEUF: 0.88, LOF (oe): 0.72, misssense (oe): 0.90, synonymous (oe): 1.11 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000593887.2 | ||||||||||||||||
| Genbank transcript ID | |||||||||||||||||
| UniProt / AlphaMissense peptide | DPOD1_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.2760C>A g.31563C>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 | 19 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | AGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCAT | ||||||||||||||||
| Altered gDNA sequence snippet | AGTGCGCCCAGCCTGGGCGAACGCGTCCCCTACGTGATCAT | ||||||||||||||||
| Original cDNA sequence snippet | AGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCAT | ||||||||||||||||
| Altered cDNA sequence snippet | AGTGCGCCCAGCCTGGGCGAACGCGTCCCCTACGTGATCAT | ||||||||||||||||
| Wildtype AA sequence | MDGKRRPGPG PGVPPKRARG GLWDDDDAPR PSQFEEDLAL MEEMEAEHRL QEQEEEELQS VLEGVADGQV PPSAIDPRWL RPTPPALDPQ TEPLIFQQLE IDHYVGPAQP VPGGPPPSRG SVPVLRAFGV TDEGFSVCCH IHGFAPYFYT PAPPGFGPEH MGDLQRELNL AISRDSRGGR ELTGPAVLAV ELCSRESMFG YHGHGPSPFL RITVALPRLV APARRLLEQG IRVAGLGTPS FAPYEANVDF EIRFMVDTDI VGCNWLELPA GKYALRLKEK ATQCQLEADV LWSDVVSHPP EGPWQRIAPL RVLSFDIECA GRKGIFPEPE RDPVIQICSL GLRWGEPEPF LRLALTLRPC APILGAKVQS YEKEEDLLQA WSTFIRIMDP DVITGYNIQN FDLPYLISRA QTLKVQTFPF LGRVAGLCSN IRDSSFQSKQ TGRRDTKVVS MVGRVQMDML QVLLREYKLR SYTLNAVSFH FLGEQKEDVQ HSIITDLQNG NDQTRRRLAV YCLKDAYLPL RLLERLMVLV NAVEMARVTG VPLSYLLSRG QQVKVVSQLL RQAMHEGLLM PVVKSEGGED YTGATVIEPL KGYYDVPIAT LDFSSLYPSI MMAHNLCYTT LLRPGTAQKL GLTEDQFIRT PTGDEFVKTS VRKGLLPQIL ENLLSARKRA KAELAKETDP LRRQVLDGRQ LALKVSANSV YGFTGAQVGK LPCLEISQSV TGFGRQMIEK TKQLVESKYT VENGYSTSAK VVYGDTDSVM CRFGVSSVAE AMALGREAAD WVSGHFPSPI RLEFEKVYFP YLLISKKRYA GLLFSSRPDA HDRMDCKGLE AVRRDNCPLV ANLVTASLRR LLIDRDPEGA VAHAQDVISD LLCNRIDISQ LVITKELTRA ASDYAGKQAH VELAERMRKR DPGSAPSLGD RVPYVIISAA KGVAAYMKSE DPLFVLEHSL PIDTQYYLEQ QLAKPLLRIF EPILGEGRAE AVLLRGDHTR CKTVLTGKVG GLLAFAKRRN CCIGCRTVLS HQGAVCEFCQ PRESELYQKE VSHLNALEER FSRLWTQCQR CQGSLHEDVI CTSRDCPIFY MRKKVRKDLE DQEQLLRRFG PPGPEAW* | ||||||||||||||||
| Mutated AA sequence | MDGKRRPGPG PGVPPKRARG GLWDDDDAPR PSQFEEDLAL MEEMEAEHRL QEQEEEELQS VLEGVADGQV PPSAIDPRWL RPTPPALDPQ TEPLIFQQLE IDHYVGPAQP VPGGPPPSRG SVPVLRAFGV TDEGFSVCCH IHGFAPYFYT PAPPGFGPEH MGDLQRELNL AISRDSRGGR ELTGPAVLAV ELCSRESMFG YHGHGPSPFL RITVALPRLV APARRLLEQG IRVAGLGTPS FAPYEANVDF EIRFMVDTDI VGCNWLELPA GKYALRLKEK ATQCQLEADV LWSDVVSHPP EGPWQRIAPL RVLSFDIECA GRKGIFPEPE RDPVIQICSL GLRWGEPEPF LRLALTLRPC APILGAKVQS YEKEEDLLQA WSTFIRIMDP DVITGYNIQN FDLPYLISRA QTLKVQTFPF LGRVAGLCSN IRDSSFQSKQ TGRRDTKVVS MVGRVQMDML QVLLREYKLR SYTLNAVSFH FLGEQKEDVQ HSIITDLQNG NDQTRRRLAV YCLKDAYLPL RLLERLMVLV NAVEMARVTG VPLSYLLSRG QQVKVVSQLL RQAMHEGLLM PVVKSEGGED YTGATVIEPL KGYYDVPIAT LDFSSLYPSI MMAHNLCYTT LLRPGTAQKL GLTEDQFIRT PTGDEFVKTS VRKGLLPQIL ENLLSARKRA KAELAKETDP LRRQVLDGRQ LALKVSANSV YGFTGAQVGK LPCLEISQSV TGFGRQMIEK TKQLVESKYT VENGYSTSAK VVYGDTDSVM CRFGVSSVAE AMALGREAAD WVSGHFPSPI RLEFEKVYFP YLLISKKRYA GLLFSSRPDA HDRMDCKGLE AVRRDNCPLV ANLVTASLRR LLIDRDPEGA VAHAQDVISD LLCNRIDISQ LVITKELTRA ASDYAGKQAH VELAERMRKR DPGSAPSLGE RVPYVIISAA KGVAAYMKSE DPLFVLEHSL PIDTQYYLEQ QLAKPLLRIF EPILGEGRAE AVLLRGDHTR CKTVLTGKVG GLLAFAKRRN CCIGCRTVLS HQGAVCEFCQ PRESELYQKE VSHLNALEER FSRLWTQCQR CQGSLHEDVI CTSRDCPIFY MRKKVRKDLE DQEQLLRRFG PPGPEAW* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 3324 / 3324 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1108 / 1108 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 3703 / 3703 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 380 / 380 | ||||||||||||||||
| Last intron/exon boundary | 3597 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 3167 | ||||||||||||||||
| Length of CDS | 3324 | ||||||||||||||||
| Coding sequence (CDS) position | 2760 | ||||||||||||||||
| cDNA position | 3139 | ||||||||||||||||
| gDNA position | 31563 | ||||||||||||||||
| Chromosomal position | 50415766 | ||||||||||||||||
| 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 | Chr19:50415766C>A (GRCh38) | ||||||||||||||||
| Gene symbol | POLD1 | ||||||||||||||||
| Gene constraints | LOEUF: 0.88, LOF (oe): 0.72, misssense (oe): 0.90, synonymous (oe): 1.11 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000687454.1 | ||||||||||||||||
| Genbank transcript ID | |||||||||||||||||
| UniProt / AlphaMissense peptide | DPOD1_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.2760C>A g.31563C>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 | 19 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | AGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCAT | ||||||||||||||||
| Altered gDNA sequence snippet | AGTGCGCCCAGCCTGGGCGAACGCGTCCCCTACGTGATCAT | ||||||||||||||||
| Original cDNA sequence snippet | AGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCAT | ||||||||||||||||
| Altered cDNA sequence snippet | AGTGCGCCCAGCCTGGGCGAACGCGTCCCCTACGTGATCAT | ||||||||||||||||
| Wildtype AA sequence | MDGKRRPGPG PGVPPKRARG GLWDDDDAPR PSQFEEDLAL MEEMEAEHRL QEQEEEELQS VLEGVADGQV PPSAIDPRWL RPTPPALDPQ TEPLIFQQLE IDHYVGPAQP VPGGPPPSRG SVPVLRAFGV TDEGFSVCCH IHGFAPYFYT PAPPGFGPEH MGDLQRELNL AISRDSRGGR ELTGPAVLAV ELCSRESMFG YHGHGPSPFL RITVALPRLV APARRLLEQG IRVAGLGTPS FAPYEANVDF EIRFMVDTDI VGCNWLELPA GKYALRLKEK ATQCQLEADV LWSDVVSHPP EGPWQRIAPL RVLSFDIECA GRKGIFPEPE RDPVIQICSL GLRWGEPEPF LRLALTLRPC APILGAKVQS YEKEEDLLQA WSTFIRIMDP DVITGYNIQN FDLPYLISRA QTLKVQTFPF LGRVAGLCSN IRDSSFQSKQ TGRRDTKVVS MVGRVQMDML QVLLREYKLR SYTLNAVSFH FLGEQKEDVQ HSIITDLQNG NDQTRRRLAV YCLKDAYLPL RLLERLMVLV NAVEMARVTG VPLSYLLSRG QQVKVVSQLL RQAMHEGLLM PVVKSEGGED YTGATVIEPL KGYYDVPIAT LDFSSLYPSI MMAHNLCYTT LLRPGTAQKL GLTEDQFIRT PTGDEFVKTS VRKGLLPQIL ENLLSARKRA KAELAKETDP LRRQVLDGRQ LALKVSANSV YGFTGAQVGK LPCLEISQSV TGFGRQMIEK TKQLVESKYT VENGYSTSAK VVYGDTDSVM CRFGVSSVAE AMALGREAAD WVSGHFPSPI RLEFEKVYFP YLLISKKRYA GLLFSSRPDA HDRMDCKGLE AVRRDNCPLV ANLVTASLRR LLIDRDPEGA VAHAQDVISD LLCNRIDISQ LVITKELTRA ASDYAGKQAH VELAERMRKR DPGSAPSLGD RVPYVIISAA KGVAAYMKSE DPLFVLEHSL PIDTQYYLEQ QLAKPLLRIF EPILGEGRAE AVLLRGDHTR CKTVLTGKVG GLLAFAKRRN CCIGCRTVLS HQGAVCEFCQ PRESELYQKE VSHLNALEER FSRLWTQCQR CQGSLHEDVI CTSRDCPIFY MRKKVRKDLE DQEQLLRRFG PPGPEAW* | ||||||||||||||||
| Mutated AA sequence | MDGKRRPGPG PGVPPKRARG GLWDDDDAPR PSQFEEDLAL MEEMEAEHRL QEQEEEELQS VLEGVADGQV PPSAIDPRWL RPTPPALDPQ TEPLIFQQLE IDHYVGPAQP VPGGPPPSRG SVPVLRAFGV TDEGFSVCCH IHGFAPYFYT PAPPGFGPEH MGDLQRELNL AISRDSRGGR ELTGPAVLAV ELCSRESMFG YHGHGPSPFL RITVALPRLV APARRLLEQG IRVAGLGTPS FAPYEANVDF EIRFMVDTDI VGCNWLELPA GKYALRLKEK ATQCQLEADV LWSDVVSHPP EGPWQRIAPL RVLSFDIECA GRKGIFPEPE RDPVIQICSL GLRWGEPEPF LRLALTLRPC APILGAKVQS YEKEEDLLQA WSTFIRIMDP DVITGYNIQN FDLPYLISRA QTLKVQTFPF LGRVAGLCSN IRDSSFQSKQ TGRRDTKVVS MVGRVQMDML QVLLREYKLR SYTLNAVSFH FLGEQKEDVQ HSIITDLQNG NDQTRRRLAV YCLKDAYLPL RLLERLMVLV NAVEMARVTG VPLSYLLSRG QQVKVVSQLL RQAMHEGLLM PVVKSEGGED YTGATVIEPL KGYYDVPIAT LDFSSLYPSI MMAHNLCYTT LLRPGTAQKL GLTEDQFIRT PTGDEFVKTS VRKGLLPQIL ENLLSARKRA KAELAKETDP LRRQVLDGRQ LALKVSANSV YGFTGAQVGK LPCLEISQSV TGFGRQMIEK TKQLVESKYT VENGYSTSAK VVYGDTDSVM CRFGVSSVAE AMALGREAAD WVSGHFPSPI RLEFEKVYFP YLLISKKRYA GLLFSSRPDA HDRMDCKGLE AVRRDNCPLV ANLVTASLRR LLIDRDPEGA VAHAQDVISD LLCNRIDISQ LVITKELTRA ASDYAGKQAH VELAERMRKR DPGSAPSLGE RVPYVIISAA KGVAAYMKSE DPLFVLEHSL PIDTQYYLEQ QLAKPLLRIF EPILGEGRAE AVLLRGDHTR CKTVLTGKVG GLLAFAKRRN CCIGCRTVLS HQGAVCEFCQ PRESELYQKE VSHLNALEER FSRLWTQCQR CQGSLHEDVI CTSRDCPIFY MRKKVRKDLE DQEQLLRRFG PPGPEAW* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 3324 / 3324 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1108 / 1108 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 3388 / 3388 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 65 / 65 | ||||||||||||||||
| Last intron/exon boundary | 3282 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 3167 | ||||||||||||||||
| Length of CDS | 3324 | ||||||||||||||||
| Coding sequence (CDS) position | 2760 | ||||||||||||||||
| cDNA position | 2824 | ||||||||||||||||
| gDNA position | 31563 | ||||||||||||||||
| Chromosomal position | 50415766 | ||||||||||||||||
| 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 | Chr19:50415766C>A (GRCh38) | ||||||||||||||||
| Gene symbol | POLD1 | ||||||||||||||||
| Gene constraints | LOEUF: 0.88, LOF (oe): 0.72, misssense (oe): 0.90, synonymous (oe): 1.11 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000599857.7 | ||||||||||||||||
| Genbank transcript ID | NM_001256849 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | DPOD1_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.2760C>A g.31563C>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 | 19 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | AGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCAT | ||||||||||||||||
| Altered gDNA sequence snippet | AGTGCGCCCAGCCTGGGCGAACGCGTCCCCTACGTGATCAT | ||||||||||||||||
| Original cDNA sequence snippet | AGTGCGCCCAGCCTGGGCGACCGCGTCCCCTACGTGATCAT | ||||||||||||||||
| Altered cDNA sequence snippet | AGTGCGCCCAGCCTGGGCGAACGCGTCCCCTACGTGATCAT | ||||||||||||||||
| Wildtype AA sequence | MDGKRRPGPG PGVPPKRARG GLWDDDDAPR PSQFEEDLAL MEEMEAEHRL QEQEEEELQS VLEGVADGQV PPSAIDPRWL RPTPPALDPQ TEPLIFQQLE IDHYVGPAQP VPGGPPPSRG SVPVLRAFGV TDEGFSVCCH IHGFAPYFYT PAPPGFGPEH MGDLQRELNL AISRDSRGGR ELTGPAVLAV ELCSRESMFG YHGHGPSPFL RITVALPRLV APARRLLEQG IRVAGLGTPS FAPYEANVDF EIRFMVDTDI VGCNWLELPA GKYALRLKEK ATQCQLEADV LWSDVVSHPP EGPWQRIAPL RVLSFDIECA GRKGIFPEPE RDPVIQICSL GLRWGEPEPF LRLALTLRPC APILGAKVQS YEKEEDLLQA WSTFIRIMDP DVITGYNIQN FDLPYLISRA QTLKVQTFPF LGRVAGLCSN IRDSSFQSKQ TGRRDTKVVS MVGRVQMDML QVLLREYKLR SYTLNAVSFH FLGEQKEDVQ HSIITDLQNG NDQTRRRLAV YCLKDAYLPL RLLERLMVLV NAVEMARVTG VPLSYLLSRG QQVKVVSQLL RQAMHEGLLM PVVKSEGGED YTGATVIEPL KGYYDVPIAT LDFSSLYPSI MMAHNLCYTT LLRPGTAQKL GLTEDQFIRT PTGDEFVKTS VRKGLLPQIL ENLLSARKRA KAELAKETDP LRRQVLDGRQ LALKVSANSV YGFTGAQVGK LPCLEISQSV TGFGRQMIEK TKQLVESKYT VENGYSTSAK VVYGDTDSVM CRFGVSSVAE AMALGREAAD WVSGHFPSPI RLEFEKVYFP YLLISKKRYA GLLFSSRPDA HDRMDCKGLE AVRRDNCPLV ANLVTASLRR LLIDRDPEGA VAHAQDVISD LLCNRIDISQ LVITKELTRA ASDYAGKQAH VELAERMRKR DPGSAPSLGD RVPYVIISAA KGVAAYMKSE DPLFVLEHSL PIDTQYYLEQ QLAKPLLRIF EPILGEGRAE AVLLRGDHTR CKTVLTGKVG GLLAFAKRRN CCIGCRTVLS HQGAVCEFCQ PRESELYQKE VSHLNALEER FSRLWTQCQR CQGSLHEDVI CTSRDCPIFY MRKKVRKDLE DQEQLLRRFG PPGPEAW* | ||||||||||||||||
| Mutated AA sequence | MDGKRRPGPG PGVPPKRARG GLWDDDDAPR PSQFEEDLAL MEEMEAEHRL QEQEEEELQS VLEGVADGQV PPSAIDPRWL RPTPPALDPQ TEPLIFQQLE IDHYVGPAQP VPGGPPPSRG SVPVLRAFGV TDEGFSVCCH IHGFAPYFYT PAPPGFGPEH MGDLQRELNL AISRDSRGGR ELTGPAVLAV ELCSRESMFG YHGHGPSPFL RITVALPRLV APARRLLEQG IRVAGLGTPS FAPYEANVDF EIRFMVDTDI VGCNWLELPA GKYALRLKEK ATQCQLEADV LWSDVVSHPP EGPWQRIAPL RVLSFDIECA GRKGIFPEPE RDPVIQICSL GLRWGEPEPF LRLALTLRPC APILGAKVQS YEKEEDLLQA WSTFIRIMDP DVITGYNIQN FDLPYLISRA QTLKVQTFPF LGRVAGLCSN IRDSSFQSKQ TGRRDTKVVS MVGRVQMDML QVLLREYKLR SYTLNAVSFH FLGEQKEDVQ HSIITDLQNG NDQTRRRLAV YCLKDAYLPL RLLERLMVLV NAVEMARVTG VPLSYLLSRG QQVKVVSQLL RQAMHEGLLM PVVKSEGGED YTGATVIEPL KGYYDVPIAT LDFSSLYPSI MMAHNLCYTT LLRPGTAQKL GLTEDQFIRT PTGDEFVKTS VRKGLLPQIL ENLLSARKRA KAELAKETDP LRRQVLDGRQ LALKVSANSV YGFTGAQVGK LPCLEISQSV TGFGRQMIEK TKQLVESKYT VENGYSTSAK VVYGDTDSVM CRFGVSSVAE AMALGREAAD WVSGHFPSPI RLEFEKVYFP YLLISKKRYA GLLFSSRPDA HDRMDCKGLE AVRRDNCPLV ANLVTASLRR LLIDRDPEGA VAHAQDVISD LLCNRIDISQ LVITKELTRA ASDYAGKQAH VELAERMRKR DPGSAPSLGE RVPYVIISAA KGVAAYMKSE DPLFVLEHSL PIDTQYYLEQ QLAKPLLRIF EPILGEGRAE AVLLRGDHTR CKTVLTGKVG GLLAFAKRRN CCIGCRTVLS HQGAVCEFCQ PRESELYQKE VSHLNALEER FSRLWTQCQR CQGSLHEDVI CTSRDCPIFY MRKKVRKDLE DQEQLLRRFG PPGPEAW* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 3324 / 3324 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1108 / 1108 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 3396 / 3396 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 73 / 73 | ||||||||||||||||
| Last intron/exon boundary | 3290 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 3167 | ||||||||||||||||
| Length of CDS | 3324 | ||||||||||||||||
| Coding sequence (CDS) position | 2760 | ||||||||||||||||
| cDNA position | 2832 | ||||||||||||||||
| gDNA position | 31563 | ||||||||||||||||
| Chromosomal position | 50415766 | ||||||||||||||||
| 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