| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000573283(MANE Select) | ACTG1 | Deleterious | 98|2 | simple_ | No | Single base exchange | Normal |
| |||||
| ACTG1 | Deleterious | 99|1 | simple_ | No | Single base exchange | Normal |
| ||||||
| ACTG1 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| ACTG1 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| ACTG1 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| ACTG1 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| ACTG1 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| ACTG1 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| ACTG1 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| ACTG1 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| ACTG1 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| ACTG1 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr17:81510997A>G (GRCh38) | |||||||||||||||||||||
| Gene symbol | ACTG1 | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.62, LOF (oe): 0.39, misssense (oe): 0.43, synonymous (oe): 1.88 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000573283.7 | |||||||||||||||||||||
| Genbank transcript ID | NM_001614 (exact from MANE) | |||||||||||||||||||||
| UniProt / AlphaMissense peptide | ACTG_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.914T>C g.12851T>C | |||||||||||||||||||||
| 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 | 17 | |||||||||||||||||||||
| Strand | -1 | |||||||||||||||||||||
| Original gDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Altered gDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Original cDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Altered cDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Wildtype AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS GGTTMYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ EYDESGPSIV HRKCF* | |||||||||||||||||||||
| Mutated AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS GGTTTYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ EYDESGPSIV HRKCF* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 1128 / 1128 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 376 / 376 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 1200 / 1200 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 73 / 73 | |||||||||||||||||||||
| Last intron/exon boundary | 1056 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 933 | |||||||||||||||||||||
| Length of CDS | 1128 | |||||||||||||||||||||
| Coding sequence (CDS) position | 914 | |||||||||||||||||||||
| cDNA position | 986 | |||||||||||||||||||||
| gDNA position | 12851 | |||||||||||||||||||||
| Chromosomal position | 81510997 | |||||||||||||||||||||
| 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 | Chr17:81510997A>G (GRCh38) | |||||||||||||
| Gene symbol | ACTG1 | |||||||||||||
| Gene constraints | LOEUF: 0.69, LOF (oe): 0.46, misssense (oe): 0.42, synonymous (oe): 1.89 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000644774.2 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.887T>C g.12851T>C | |||||||||||||
| 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 | 17 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||
| Altered gDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||
| Original cDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||
| Altered cDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||
| Wildtype AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QDSYVGDEAQ SKRGILTLKY PIEHGIVTNW DDMEKIWHHT FYNELRVAPE EHPVLLTEAP LNPKANREKM TQIMFETFNT PAMYVAIQAV LSLYASGRTT GIVMDSGDGV THTVPIYEGY ALPHAILRLD LAGRDLTDYL MKILTERGYS FTTTAEREIV RDIKEKLCYV ALDFEQEMAT AASSSSLEKS YELPDGQVIT IGNERFRCPE ALFQPSFLGM ESCGIHETTF NSIMKCDVDI RKDLYANTVL SGGTTMYPGI ADRMQKEITA LAPSTMKIKI IAPPERKYSV WIGGSILASL STFQQMWISK QEYDESGPSI VHRKCF* | |||||||||||||
| Mutated AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QDSYVGDEAQ SKRGILTLKY PIEHGIVTNW DDMEKIWHHT FYNELRVAPE EHPVLLTEAP LNPKANREKM TQIMFETFNT PAMYVAIQAV LSLYASGRTT GIVMDSGDGV THTVPIYEGY ALPHAILRLD LAGRDLTDYL MKILTERGYS FTTTAEREIV RDIKEKLCYV ALDFEQEMAT AASSSSLEKS YELPDGQVIT IGNERFRCPE ALFQPSFLGM ESCGIHETTF NSIMKCDVDI RKDLYANTVL SGGTTTYPGI ADRMQKEITA LAPSTMKIKI IAPPERKYSV WIGGSILASL STFQQMWISK QEYDESGPSI VHRKCF* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1101 / 1101 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 367 / 367 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1137 / 1137 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 37 / 37 | |||||||||||||
| Last intron/exon boundary | 993 | |||||||||||||
| Theoretical NMD boundary in CDS | 906 | |||||||||||||
| Length of CDS | 1101 | |||||||||||||
| Coding sequence (CDS) position | 887 | |||||||||||||
| cDNA position | 923 | |||||||||||||
| gDNA position | 12851 | |||||||||||||
| Chromosomal position | 81510997 | |||||||||||||
| 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 | Chr17:81510997A>G (GRCh38) | |||||||||||||||||||||
| Gene symbol | ACTG1 | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.62, LOF (oe): 0.39, misssense (oe): 0.43, synonymous (oe): 1.88 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000681052.1 | |||||||||||||||||||||
| Genbank transcript ID | ||||||||||||||||||||||
| UniProt / AlphaMissense peptide | ACTG_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.914T>C g.12851T>C | |||||||||||||||||||||
| 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 | 17 | |||||||||||||||||||||
| Strand | -1 | |||||||||||||||||||||
| Original gDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Altered gDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Original cDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Altered cDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Wildtype AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS GGTTMYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ EYDESGPSIV HRKCF* | |||||||||||||||||||||
| Mutated AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS GGTTTYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ EYDESGPSIV HRKCF* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 1128 / 1128 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 376 / 376 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 1214 / 1214 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 87 / 87 | |||||||||||||||||||||
| Last intron/exon boundary | 1070 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 933 | |||||||||||||||||||||
| Length of CDS | 1128 | |||||||||||||||||||||
| Coding sequence (CDS) position | 914 | |||||||||||||||||||||
| cDNA position | 1000 | |||||||||||||||||||||
| gDNA position | 12851 | |||||||||||||||||||||
| Chromosomal position | 81510997 | |||||||||||||||||||||
| Speed | 0.12 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 | Chr17:81510997A>G (GRCh38) | |||||||||||||||||||||
| Gene symbol | ACTG1 | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.62, LOF (oe): 0.39, misssense (oe): 0.43, synonymous (oe): 1.88 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000679480.1 | |||||||||||||||||||||
| Genbank transcript ID | ||||||||||||||||||||||
| UniProt / AlphaMissense peptide | ACTG_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.914T>C g.12851T>C | |||||||||||||||||||||
| 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 | 17 | |||||||||||||||||||||
| Strand | -1 | |||||||||||||||||||||
| Original gDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Altered gDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Original cDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Altered cDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Wildtype AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS GGTTMYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ EYDESGPSIV HRKCF* | |||||||||||||||||||||
| Mutated AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS GGTTTYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ EYDESGPSIV HRKCF* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 1128 / 1128 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 376 / 376 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 1205 / 1205 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 78 / 78 | |||||||||||||||||||||
| Last intron/exon boundary | 1061 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 933 | |||||||||||||||||||||
| Length of CDS | 1128 | |||||||||||||||||||||
| Coding sequence (CDS) position | 914 | |||||||||||||||||||||
| cDNA position | 991 | |||||||||||||||||||||
| gDNA position | 12851 | |||||||||||||||||||||
| Chromosomal position | 81510997 | |||||||||||||||||||||
| Speed | 0.14 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 | Chr17:81510997A>G (GRCh38) | |||||||||||||||||||||
| Gene symbol | ACTG1 | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.62, LOF (oe): 0.39, misssense (oe): 0.43, synonymous (oe): 1.88 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000570382.2 | |||||||||||||||||||||
| Genbank transcript ID | NM_001199954 (by similarity) | |||||||||||||||||||||
| UniProt / AlphaMissense peptide | ACTG_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.914T>C g.12851T>C | |||||||||||||||||||||
| 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 | 17 | |||||||||||||||||||||
| Strand | -1 | |||||||||||||||||||||
| Original gDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Altered gDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Original cDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Altered cDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Wildtype AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS GGTTMYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ EYDESGPSIV HRKCF* | |||||||||||||||||||||
| Mutated AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS GGTTTYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ EYDESGPSIV HRKCF* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 1128 / 1128 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 376 / 376 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 1338 / 1338 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 211 / 211 | |||||||||||||||||||||
| Last intron/exon boundary | 1194 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 933 | |||||||||||||||||||||
| Length of CDS | 1128 | |||||||||||||||||||||
| Coding sequence (CDS) position | 914 | |||||||||||||||||||||
| cDNA position | 1124 | |||||||||||||||||||||
| gDNA position | 12851 | |||||||||||||||||||||
| Chromosomal position | 81510997 | |||||||||||||||||||||
| 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 | Chr17:81510997A>G (GRCh38) | |||||||||||||||||||||
| Gene symbol | ACTG1 | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.62, LOF (oe): 0.39, misssense (oe): 0.43, synonymous (oe): 1.88 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000615544.5 | |||||||||||||||||||||
| Genbank transcript ID | ||||||||||||||||||||||
| UniProt / AlphaMissense peptide | ACTG_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.914T>C g.12851T>C | |||||||||||||||||||||
| 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 | 17 | |||||||||||||||||||||
| Strand | -1 | |||||||||||||||||||||
| Original gDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Altered gDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Original cDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Altered cDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Wildtype AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS GGTTMYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ EYDESGPSIV HRKCF* | |||||||||||||||||||||
| Mutated AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS GGTTTYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ EYDESGPSIV HRKCF* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 1128 / 1128 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 376 / 376 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 1181 / 1181 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 54 / 54 | |||||||||||||||||||||
| Last intron/exon boundary | 1037 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 933 | |||||||||||||||||||||
| Length of CDS | 1128 | |||||||||||||||||||||
| Coding sequence (CDS) position | 914 | |||||||||||||||||||||
| cDNA position | 967 | |||||||||||||||||||||
| gDNA position | 12851 | |||||||||||||||||||||
| Chromosomal position | 81510997 | |||||||||||||||||||||
| 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 | Chr17:81510997A>G (GRCh38) | |||||||||||||||||||||
| Gene symbol | ACTG1 | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.62, LOF (oe): 0.39, misssense (oe): 0.43, synonymous (oe): 1.88 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000575842.5 | |||||||||||||||||||||
| Genbank transcript ID | ||||||||||||||||||||||
| UniProt / AlphaMissense peptide | ACTG_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.914T>C g.12851T>C | |||||||||||||||||||||
| 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 | 17 | |||||||||||||||||||||
| Strand | -1 | |||||||||||||||||||||
| Original gDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Altered gDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Original cDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Altered cDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Wildtype AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS GGTTMYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ EYDESGPSIV HRKCF* | |||||||||||||||||||||
| Mutated AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS GGTTTYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ EYDESGPSIV HRKCF* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 1128 / 1128 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 376 / 376 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 1555 / 1555 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 428 / 428 | |||||||||||||||||||||
| Last intron/exon boundary | 1411 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 933 | |||||||||||||||||||||
| Length of CDS | 1128 | |||||||||||||||||||||
| Coding sequence (CDS) position | 914 | |||||||||||||||||||||
| cDNA position | 1341 | |||||||||||||||||||||
| gDNA position | 12851 | |||||||||||||||||||||
| Chromosomal position | 81510997 | |||||||||||||||||||||
| Speed | 0.12 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 | Chr17:81510997A>G (GRCh38) | |||||||||||||||||||||
| Gene symbol | ACTG1 | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.62, LOF (oe): 0.39, misssense (oe): 0.43, synonymous (oe): 1.88 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000575087.5 | |||||||||||||||||||||
| Genbank transcript ID | ||||||||||||||||||||||
| UniProt / AlphaMissense peptide | ACTG_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.914T>C g.12851T>C | |||||||||||||||||||||
| 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 | 17 | |||||||||||||||||||||
| Strand | -1 | |||||||||||||||||||||
| Original gDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Altered gDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Original cDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Altered cDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Wildtype AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS GGTTMYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ EYDESGPSIV HRKCF* | |||||||||||||||||||||
| Mutated AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS GGTTTYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ EYDESGPSIV HRKCF* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 1128 / 1128 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 376 / 376 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 1319 / 1319 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 192 / 192 | |||||||||||||||||||||
| Last intron/exon boundary | 1175 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 933 | |||||||||||||||||||||
| Length of CDS | 1128 | |||||||||||||||||||||
| Coding sequence (CDS) position | 914 | |||||||||||||||||||||
| cDNA position | 1105 | |||||||||||||||||||||
| gDNA position | 12851 | |||||||||||||||||||||
| Chromosomal position | 81510997 | |||||||||||||||||||||
| 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 | Chr17:81510997A>G (GRCh38) | |||||||||||||
| Gene symbol | ACTG1 | |||||||||||||
| Gene constraints | LOEUF: 0.58, LOF (oe): 0.36, misssense (oe): 0.42, synonymous (oe): 1.88 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000571691.6 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.842T>C g.12851T>C | |||||||||||||
| 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 | 17 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||
| Altered gDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||
| Original cDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||
| Altered cDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||
| Wildtype AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKAVLSLYA SGRTTGIVMD SGDGVTHTVP IYEGYALPHA ILRLDLAGRD LTDYLMKILT ERGYSFTTTA EREIVRDIKE KLCYVALDFE QEMATAASSS SLEKSYELPD GQVITIGNER FRCPEALFQP SFLGMESCGI HETTFNSIMK CDVDIRKDLY ANTVLSGGTT MYPGIADRMQ KEITALAPST MKIKIIAPPE RKYSVWIGGS ILASLSTFQQ MWISKQEYDE SGPSIVHRKC F* | |||||||||||||
| Mutated AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKAVLSLYA SGRTTGIVMD SGDGVTHTVP IYEGYALPHA ILRLDLAGRD LTDYLMKILT ERGYSFTTTA EREIVRDIKE KLCYVALDFE QEMATAASSS SLEKSYELPD GQVITIGNER FRCPEALFQP SFLGMESCGI HETTFNSIMK CDVDIRKDLY ANTVLSGGTT TYPGIADRMQ KEITALAPST MKIKIIAPPE RKYSVWIGGS ILASLSTFQQ MWISKQEYDE SGPSIVHRKC F* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1056 / 1056 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 352 / 352 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1128 / 1128 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 73 / 73 | |||||||||||||
| Last intron/exon boundary | 984 | |||||||||||||
| Theoretical NMD boundary in CDS | 861 | |||||||||||||
| Length of CDS | 1056 | |||||||||||||
| Coding sequence (CDS) position | 842 | |||||||||||||
| cDNA position | 914 | |||||||||||||
| gDNA position | 12851 | |||||||||||||
| Chromosomal position | 81510997 | |||||||||||||
| 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 | Chr17:81510997A>G (GRCh38) | |||||||||||||||||||||
| Gene symbol | ACTG1 | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.62, LOF (oe): 0.39, misssense (oe): 0.43, synonymous (oe): 1.88 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000571721.6 | |||||||||||||||||||||
| Genbank transcript ID | ||||||||||||||||||||||
| UniProt / AlphaMissense peptide | ACTG_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.914T>C g.12851T>C | |||||||||||||||||||||
| 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 | 17 | |||||||||||||||||||||
| Strand | -1 | |||||||||||||||||||||
| Original gDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Altered gDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Original cDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Altered cDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Wildtype AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS GGTTMYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ EYDESGPSIV HRKCF* | |||||||||||||||||||||
| Mutated AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS GGTTTYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ EYDESGPSIV HRKCF* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 1128 / 1128 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 376 / 376 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 1449 / 1449 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 322 / 322 | |||||||||||||||||||||
| Last intron/exon boundary | 1305 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 933 | |||||||||||||||||||||
| Length of CDS | 1128 | |||||||||||||||||||||
| Coding sequence (CDS) position | 914 | |||||||||||||||||||||
| cDNA position | 1235 | |||||||||||||||||||||
| gDNA position | 12851 | |||||||||||||||||||||
| Chromosomal position | 81510997 | |||||||||||||||||||||
| 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 | Chr17:81510997A>G (GRCh38) | |||||||||||||||||||||
| Gene symbol | ACTG1 | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.62, LOF (oe): 0.39, misssense (oe): 0.43, synonymous (oe): 1.88 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000575659.6 | |||||||||||||||||||||
| Genbank transcript ID | ||||||||||||||||||||||
| UniProt / AlphaMissense peptide | ACTG_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.914T>C g.12851T>C | |||||||||||||||||||||
| 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 | 17 | |||||||||||||||||||||
| Strand | -1 | |||||||||||||||||||||
| Original gDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Altered gDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Original cDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Altered cDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Wildtype AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS GGTTMYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ EYDESGPSIV HRKCF* | |||||||||||||||||||||
| Mutated AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS GGTTTYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ EYDESGPSIV HRKCF* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 1128 / 1128 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 376 / 376 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 1228 / 1228 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 101 / 101 | |||||||||||||||||||||
| Last intron/exon boundary | 1084 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 933 | |||||||||||||||||||||
| Length of CDS | 1128 | |||||||||||||||||||||
| Coding sequence (CDS) position | 914 | |||||||||||||||||||||
| cDNA position | 1014 | |||||||||||||||||||||
| gDNA position | 12851 | |||||||||||||||||||||
| Chromosomal position | 81510997 | |||||||||||||||||||||
| Speed | 0.13 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 | Chr17:81510997A>G (GRCh38) | |||||||||||||||||||||
| Gene symbol | ACTG1 | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.62, LOF (oe): 0.39, misssense (oe): 0.43, synonymous (oe): 1.88 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000575994.6 | |||||||||||||||||||||
| Genbank transcript ID | ||||||||||||||||||||||
| UniProt / AlphaMissense peptide | ACTG_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.914T>C g.12851T>C | |||||||||||||||||||||
| 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 | 17 | |||||||||||||||||||||
| Strand | -1 | |||||||||||||||||||||
| Original gDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Altered gDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Original cDNA sequence snippet | GCTGTCGGGCGGCACCACCATGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Altered cDNA sequence snippet | GCTGTCGGGCGGCACCACCACGTACCCGGGCATTGCCGACA | |||||||||||||||||||||
| Wildtype AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS GGTTMYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ EYDESGPSIV HRKCF* | |||||||||||||||||||||
| Mutated AA sequence | MEEEIAALVI DNGSGMCKAG FAGDDAPRAV FPSIVGRPRH QGVMVGMGQK DSYVGDEAQS KRGILTLKYP IEHGIVTNWD DMEKIWHHTF YNELRVAPEE HPVLLTEAPL NPKANREKMT QIMFETFNTP AMYVAIQAVL SLYASGRTTG IVMDSGDGVT HTVPIYEGYA LPHAILRLDL AGRDLTDYLM KILTERGYSF TTTAEREIVR DIKEKLCYVA LDFEQEMATA ASSSSLEKSY ELPDGQVITI GNERFRCPEA LFQPSFLGME SCGIHETTFN SIMKCDVDIR KDLYANTVLS GGTTTYPGIA DRMQKEITAL APSTMKIKII APPERKYSVW IGGSILASLS TFQQMWISKQ EYDESGPSIV HRKCF* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 1128 / 1128 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 376 / 376 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 1340 / 1340 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 213 / 213 | |||||||||||||||||||||
| Last intron/exon boundary | 1196 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 933 | |||||||||||||||||||||
| Length of CDS | 1128 | |||||||||||||||||||||
| Coding sequence (CDS) position | 914 | |||||||||||||||||||||
| cDNA position | 1126 | |||||||||||||||||||||
| gDNA position | 12851 | |||||||||||||||||||||
| Chromosomal position | 81510997 | |||||||||||||||||||||
| 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