| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000252034(MANE Select) | ELN | Benign | 18|82 | simple_ | No | Single base exchange | Normal |
| |||||
| ELN | Benign | 21|79 | simple_ | No | Single base exchange | Normal |
| ||||||
| ELN | Benign | 21|79 | simple_ | No | Single base exchange | Normal |
| ||||||
| ELN | Benign | 21|79 | simple_ | No | Single base exchange | Normal |
| ||||||
| ELN | Benign | 21|79 | simple_ | No | Single base exchange | Normal |
| ||||||
| ELN | Benign | 21|79 | simple_ | No | Single base exchange | Normal |
| ||||||
| ELN | Benign | 21|79 | simple_ | No | Single base exchange | Normal |
| ||||||
| ELN | Benign | 21|79 | simple_ | No | Single base exchange | Normal |
| ||||||
| ELN | Benign | 22|78 | simple_ | No | Single base exchange | Normal |
| ||||||
| ELN | Benign | 22|78 | simple_ | No | Single base exchange | Normal |
| ||||||
| ELN | Benign | 22|78 | simple_ | No | Single base exchange | Normal |
| ||||||
| ELN | Benign | 22|78 | simple_ | No | Single base exchange | Normal |
| ||||||
| ELN | Benign | 22|78 | simple_ | No | Single base exchange | Normal |
| ||||||
| ELN | Benign | 23|77 | simple_ | No | Single base exchange | Normal |
| ||||||
| ELN | Benign | 24|76 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr7:74051932A>T (GRCh38) | |||||||||||||
| Gene symbol | ELN | |||||||||||||
| Gene constraints | LOEUF: 0.70, LOF (oe): 0.56, misssense (oe): 0.89, synonymous (oe): 0.91 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000252034.12 | |||||||||||||
| Genbank transcript ID | NM_000501 (exact from MANE) | |||||||||||||
| UniProt / AlphaMissense peptide | ELN_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.898A>T g.24144A>T | |||||||||||||
| 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 | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Original cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Wildtype AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGT PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGVGTPAAA AAKAAAKAAQ FGLVPGVGVA PGVGVAPGVG VAPGVGLAPG VGVAPGVGVA PGVGVAPGIG PGGVAAAAKS AAKVAAKAQL RAAAGLGAGI PGLGVGVGVP GLGVGAGVPG LGVGAGVPGF GAVPGALAAA KAAKYGAAVP GVLGGLGALG GVGIPGGVVG AGPAAAAAAA KAAAKAAQFG LVGAAGLGGL GVGGLGVPGV GGLGGIPPAA AAKAAKYGAA GLGGVLGGAG QFPLGGVAAR PGFGLSPIFP GGACLGKACG RKRK* | |||||||||||||
| Mutated AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGS PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGVGTPAAA AAKAAAKAAQ FGLVPGVGVA PGVGVAPGVG VAPGVGLAPG VGVAPGVGVA PGVGVAPGIG PGGVAAAAKS AAKVAAKAQL RAAAGLGAGI PGLGVGVGVP GLGVGAGVPG LGVGAGVPGF GAVPGALAAA KAAKYGAAVP GVLGGLGALG GVGIPGGVVG AGPAAAAAAA KAAAKAAQFG LVGAAGLGGL GVGGLGVPGV GGLGGIPPAA AAKAAKYGAA GLGGVLGGAG QFPLGGVAAR PGFGLSPIFP GGACLGKACG RKRK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2175 / 2175 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 725 / 725 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2190 / 2190 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 16 / 16 | |||||||||||||
| Last intron/exon boundary | 2146 | |||||||||||||
| Theoretical NMD boundary in CDS | 2080 | |||||||||||||
| Length of CDS | 2175 | |||||||||||||
| Coding sequence (CDS) position | 898 | |||||||||||||
| cDNA position | 913 | |||||||||||||
| gDNA position | 24144 | |||||||||||||
| Chromosomal position | 74051932 | |||||||||||||
| Speed | 0.03 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 | Chr7:74051932A>T (GRCh38) | |||||||||||||
| Gene symbol | ELN | |||||||||||||
| Gene constraints | LOEUF: 0.68, LOF (oe): 0.55, misssense (oe): 0.89, synonymous (oe): 0.92 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000445912.5 | |||||||||||||
| Genbank transcript ID | NM_001278912 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.898A>T g.24144A>T | |||||||||||||
| 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 | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Original cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Wildtype AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGT PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGVGTPAAA AAKAAAKAAQ FGLVPGVGVA PGVGVAPGVG VAPGVGLAPG VGVAPGVGVA PGVGVAPGIG PGGVAAAAKS AAKVAAKAQL RAAAGLGAGI PGLGVGVGVP GLGVGAGVPG LGVGAGVPGF GAVPGALAAA KAAKYGAAVP GVLGGLGALG GVGIPGGVVG AGPAAAAAAA KAAAKAAQFG LVGAAGLGGL GVGGLGVPGV GGLGGIPPAA AAKAAKYGVA ARPGFGLSPI FPGGACLGKA CGRKRK* | |||||||||||||
| Mutated AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGS PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGVGTPAAA AAKAAAKAAQ FGLVPGVGVA PGVGVAPGVG VAPGVGLAPG VGVAPGVGVA PGVGVAPGIG PGGVAAAAKS AAKVAAKAQL RAAAGLGAGI PGLGVGVGVP GLGVGAGVPG LGVGAGVPGF GAVPGALAAA KAAKYGAAVP GVLGGLGALG GVGIPGGVVG AGPAAAAAAA KAAAKAAQFG LVGAAGLGGL GVGGLGVPGV GGLGGIPPAA AAKAAKYGVA ARPGFGLSPI FPGGACLGKA CGRKRK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2121 / 2121 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 707 / 707 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2520 / 2520 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 400 / 400 | |||||||||||||
| Last intron/exon boundary | 2476 | |||||||||||||
| Theoretical NMD boundary in CDS | 2026 | |||||||||||||
| Length of CDS | 2121 | |||||||||||||
| Coding sequence (CDS) position | 898 | |||||||||||||
| cDNA position | 1297 | |||||||||||||
| gDNA position | 24144 | |||||||||||||
| Chromosomal position | 74051932 | |||||||||||||
| Speed | 0.05 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 | Chr7:74051932A>T (GRCh38) | |||||||||||||
| Gene symbol | ELN | |||||||||||||
| Gene constraints | LOEUF: 0.70, LOF (oe): 0.56, misssense (oe): 0.88, synonymous (oe): 0.91 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000414324.5 | |||||||||||||
| Genbank transcript ID | NM_001278914 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.883A>T g.24144A>T | |||||||||||||
| 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 | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Original cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Wildtype AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAAPSVP GAVVPQPGAG VKPGKVPGVG LPGVYPGGVL PGARFPGVGV LPGVPTGAGV KPKAPGVGGA FAGIPGVGPF GGPQPGVPLG YPIKAPKLPG GYGLPYTTGK LPYGYGPGGV AGAAGKAGYP TGTGVGPQAA AAAAAKAAAK FGAGAAGVLP GVGGAGVPGV PGAIPGIGGI AGVGTPAAAA AAAAAAKAAK YGAAAGLVPG GPGFGPGVVG VPGAGVPGVG VPGAGIPVVP GAGIPGAAVP GVVSPEAAAK AAAKAAKYGA RPGVGVGGIP TYGVGAGGFP GFGVGVGGIP GVAGVPGVGG VPGVGGVPGV GISPEAQAAA AAKAAKYGLV PGVGVAPGVG VAPGVGVAPG VGLAPGVGVA PGVGVAPGVG VAPGIGPGGV AAAAKSAAKV AAKAQLRAAA GLGAGIPGLG VGVGVPGLGV GAGVPGLGVG AGVPGFGAVP GALAAAKAAK YGAAVPGVLG GLGALGGVGI PGGVVGAGPA AAAAAAKAAA KAAQFGLVGA AGLGGLGVGG LGVPGVGGLG GIPPAAAAKA AKYGAAGLGG VLGGAGQFPL GGVAARPGFG LSPIFPGGAC LGKACGRKRK * | |||||||||||||
| Mutated AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAAPSVP GAVVPQPGAG VKPGKVPGVG LPGVYPGGVL PGARFPGVGV LPGVPTGAGV KPKAPGVGGA FAGIPGVGPF GGPQPGVPLG YPIKAPKLPG GYGLPYTTGK LPYGYGPGGV AGAAGKAGYP TGTGVGPQAA AAAAAKAAAK FGAGAAGVLP GVGGAGVPGV PGAIPGIGGI AGVGSPAAAA AAAAAAKAAK YGAAAGLVPG GPGFGPGVVG VPGAGVPGVG VPGAGIPVVP GAGIPGAAVP GVVSPEAAAK AAAKAAKYGA RPGVGVGGIP TYGVGAGGFP GFGVGVGGIP GVAGVPGVGG VPGVGGVPGV GISPEAQAAA AAKAAKYGLV PGVGVAPGVG VAPGVGVAPG VGLAPGVGVA PGVGVAPGVG VAPGIGPGGV AAAAKSAAKV AAKAQLRAAA GLGAGIPGLG VGVGVPGLGV GAGVPGLGVG AGVPGFGAVP GALAAAKAAK YGAAVPGVLG GLGALGGVGI PGGVVGAGPA AAAAAAKAAA KAAQFGLVGA AGLGGLGVGG LGVPGVGGLG GIPPAAAAKA AKYGAAGLGG VLGGAGQFPL GGVAARPGFG LSPIFPGGAC LGKACGRKRK * | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2103 / 2103 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 701 / 701 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2162 / 2162 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 60 / 60 | |||||||||||||
| Last intron/exon boundary | 2118 | |||||||||||||
| Theoretical NMD boundary in CDS | 2008 | |||||||||||||
| Length of CDS | 2103 | |||||||||||||
| Coding sequence (CDS) position | 883 | |||||||||||||
| cDNA position | 942 | |||||||||||||
| gDNA position | 24144 | |||||||||||||
| Chromosomal position | 74051932 | |||||||||||||
| Speed | 0.04 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr7:74051932A>T (GRCh38) | |||||||||||||
| Gene symbol | ELN | |||||||||||||
| Gene constraints | LOEUF: 0.70, LOF (oe): 0.56, misssense (oe): 0.89, synonymous (oe): 0.91 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000380562.8 | |||||||||||||
| Genbank transcript ID | NM_001278915 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | ELN_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.898A>T g.24144A>T | |||||||||||||
| 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 | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Original cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Wildtype AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGT PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGVGTPAAA AAKAAAKAAQ FALLNLAGLV PGVGVAPGVG VAPGVGVAPG VGLAPGVGVA PGVGVAPGVG VAPGIGPGGV AAAAKSAAKV AAKAQLRAAA GLGAGIPGLG VGVGVPGLGV GAGVPGLGVG AGVPGFGAVP GALAAAKAAK YGAAVPGVLG GLGALGGVGI PGGVVGAGPA AAAAAAKAAA KAAQFGLVGA AGLGGLGVGG LGVPGVGGLG GIPPAAAAKA AKYGAAGLGG VLGGAGQFPL GGVAARPGFG LSPIFPGGAC LGKACGRKRK * | |||||||||||||
| Mutated AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGS PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGVGTPAAA AAKAAAKAAQ FALLNLAGLV PGVGVAPGVG VAPGVGVAPG VGLAPGVGVA PGVGVAPGVG VAPGIGPGGV AAAAKSAAKV AAKAQLRAAA GLGAGIPGLG VGVGVPGLGV GAGVPGLGVG AGVPGFGAVP GALAAAKAAK YGAAVPGVLG GLGALGGVGI PGGVVGAGPA AAAAAAKAAA KAAQFGLVGA AGLGGLGVGG LGVPGVGGLG GIPPAAAAKA AKYGAAGLGG VLGGAGQFPL GGVAARPGFG LSPIFPGGAC LGKACGRKRK * | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2193 / 2193 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 731 / 731 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2240 / 2240 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 48 / 48 | |||||||||||||
| Last intron/exon boundary | 2196 | |||||||||||||
| Theoretical NMD boundary in CDS | 2098 | |||||||||||||
| Length of CDS | 2193 | |||||||||||||
| Coding sequence (CDS) position | 898 | |||||||||||||
| cDNA position | 945 | |||||||||||||
| gDNA position | 24144 | |||||||||||||
| Chromosomal position | 74051932 | |||||||||||||
| Speed | 0.04 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr7:74051932A>T (GRCh38) | ||||||||||||||||
| Gene symbol | ELN | ||||||||||||||||
| Gene constraints | LOEUF: 0.67, LOF (oe): 0.54, misssense (oe): 0.89, synonymous (oe): 0.92 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000380575.8 | ||||||||||||||||
| Genbank transcript ID | NM_001081752 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | ELN_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.868A>T g.24144A>T | ||||||||||||||||
| 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 | 9 | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 7 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | ||||||||||||||||
| Altered gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | ||||||||||||||||
| Original cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | ||||||||||||||||
| Altered cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | ||||||||||||||||
| Wildtype AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGT PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGLVPGVGV APGVGVAPGV GVAPGVGLAP GVGVAPGVGV APGVGVAPGI GPGGVAAAAK SAAKVAAKAQ LRAAAGLGAG IPGLGVGVGV PGLGVGAGVP GLGVGAGVPG FGAVPGALAA AKAAKYGAAV PGVLGGLGAL GGVGIPGGVV GAGPAAAAAA AKAAAKAAQF GLVGAAGLGG LGVGGLGVPG VGGLGGIPPA AAAKAAKYGV AARPGFGLSP IFPGGACLGK ACGRKRK* | ||||||||||||||||
| Mutated AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGS PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGLVPGVGV APGVGVAPGV GVAPGVGLAP GVGVAPGVGV APGVGVAPGI GPGGVAAAAK SAAKVAAKAQ LRAAAGLGAG IPGLGVGVGV PGLGVGAGVP GLGVGAGVPG FGAVPGALAA AKAAKYGAAV PGVLGGLGAL GGVGIPGGVV GAGPAAAAAA AKAAAKAAQF GLVGAAGLGG LGVGGLGVPG VGGLGGIPPA AAAKAAKYGV AARPGFGLSP IFPGGACLGK ACGRKRK* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 2034 / 2034 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 678 / 678 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 2065 / 2065 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 32 / 32 | ||||||||||||||||
| Last intron/exon boundary | 2021 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 1939 | ||||||||||||||||
| Length of CDS | 2034 | ||||||||||||||||
| Coding sequence (CDS) position | 868 | ||||||||||||||||
| cDNA position | 899 | ||||||||||||||||
| gDNA position | 24144 | ||||||||||||||||
| Chromosomal position | 74051932 | ||||||||||||||||
| Speed | 0.03 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 | Chr7:74051932A>T (GRCh38) | |||||||||||||
| Gene symbol | ELN | |||||||||||||
| Gene constraints | LOEUF: 0.71, LOF (oe): 0.57, misssense (oe): 0.88, synonymous (oe): 0.91 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000458204.5 | |||||||||||||
| Genbank transcript ID | NM_001278917 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.868A>T g.24144A>T | |||||||||||||
| 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 | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Original cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Wildtype AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGT PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGVGTPAAA AAKAAAKAAQ FGLVPGVGVA PGVGVAPGVG VAPGVGLAPG VGVAPGVGVA PGVGVAPGIG PGGVAAAAKS AAKVAAKAQL RAAAGLGAGI PGLGVGVGVP GLGVGAGVPG LGVGAGVPGF GAVPGALAAA KAAKYGAAVP GVLGGLGALG GVGIPGGVVG AGPAAAAAAA KAAAKAAQFG LVGAAGLGGL GVGGLGVPGV GGLGGIPPAA AAKAAKYGAA GLGGVLGGAG QFPLGGVAAR PGFGLSPIFP GGACLGKACG RKRK* | |||||||||||||
| Mutated AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGS PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGVGTPAAA AAKAAAKAAQ FGLVPGVGVA PGVGVAPGVG VAPGVGLAPG VGVAPGVGVA PGVGVAPGIG PGGVAAAAKS AAKVAAKAQL RAAAGLGAGI PGLGVGVGVP GLGVGAGVPG LGVGAGVPGF GAVPGALAAA KAAKYGAAVP GVLGGLGALG GVGIPGGVVG AGPAAAAAAA KAAAKAAQFG LVGAAGLGGL GVGGLGVPGV GGLGGIPPAA AAKAAKYGAA GLGGVLGGAG QFPLGGVAAR PGFGLSPIFP GGACLGKACG RKRK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2145 / 2145 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 715 / 715 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2170 / 2170 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 26 / 26 | |||||||||||||
| Last intron/exon boundary | 2126 | |||||||||||||
| Theoretical NMD boundary in CDS | 2050 | |||||||||||||
| Length of CDS | 2145 | |||||||||||||
| Coding sequence (CDS) position | 868 | |||||||||||||
| cDNA position | 893 | |||||||||||||
| gDNA position | 24144 | |||||||||||||
| Chromosomal position | 74051932 | |||||||||||||
| Speed | 0.04 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr7:74051932A>T (GRCh38) | |||||||||||||
| Gene symbol | ELN | |||||||||||||
| Gene constraints | LOEUF: 0.70, LOF (oe): 0.56, misssense (oe): 0.89, synonymous (oe): 0.92 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000357036.9 | |||||||||||||
| Genbank transcript ID | NM_001081754 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | ELN_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.913A>T g.24144A>T | |||||||||||||
| 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 | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Original cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Wildtype AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAAPSVP GAVVPQPGAG VKPGKVPGVG LPGVYPGGVL PGARFPGVGV LPGVPTGAGV KPKAPGVGGA FAGIPGVGPF GGPQPGVPLG YPIKAPKLPG GYGLPYTTGK LPYGYGPGGV AGAAGKAGYP TGTGVGPQAA AAAAAKAAAK FGAGAAGVLP GVGGAGVPGV PGAIPGIGGI AGVGTPAAAA AAAAAAKAAK YGAAAGLVPG GPGFGPGVVG VPGAGVPGVG VPGAGIPVVP GAGIPGAAVP GVVSPEAAAK AAAKAAKYGA RPGVGVGGIP TYGVGAGGFP GFGVGVGGIP GVAGVPGVGG VPGVGGVPGV GISPEAQAAA AAKAAKYGVG TPAAAAAKAA AKAAQFGLVP GVGVAPGVGV APGVGVAPGV GLAPGVGVAP GVGVAPGVGV APGIGPGGVA AAAKSAAKVA AKAQLRAAAG LGAGIPGLGV GVGVPGLGVG AGVPGLGVGA GVPGFGAVPG ALAAAKAAKY GAAVPGVLGG LGALGGVGIP GGVVGAGPAA AAAAAKAAAK AAQFGLVGAA GLGGLGVGGL GVPGVGGLGG IPPAAAAKAA KYGVAARPGF GLSPIFPGGA CLGKACGRKR K* | |||||||||||||
| Mutated AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAAPSVP GAVVPQPGAG VKPGKVPGVG LPGVYPGGVL PGARFPGVGV LPGVPTGAGV KPKAPGVGGA FAGIPGVGPF GGPQPGVPLG YPIKAPKLPG GYGLPYTTGK LPYGYGPGGV AGAAGKAGYP TGTGVGPQAA AAAAAKAAAK FGAGAAGVLP GVGGAGVPGV PGAIPGIGGI AGVGSPAAAA AAAAAAKAAK YGAAAGLVPG GPGFGPGVVG VPGAGVPGVG VPGAGIPVVP GAGIPGAAVP GVVSPEAAAK AAAKAAKYGA RPGVGVGGIP TYGVGAGGFP GFGVGVGGIP GVAGVPGVGG VPGVGGVPGV GISPEAQAAA AAKAAKYGVG TPAAAAAKAA AKAAQFGLVP GVGVAPGVGV APGVGVAPGV GLAPGVGVAP GVGVAPGVGV APGIGPGGVA AAAKSAAKVA AKAQLRAAAG LGAGIPGLGV GVGVPGLGVG AGVPGLGVGA GVPGFGAVPG ALAAAKAAKY GAAVPGVLGG LGALGGVGIP GGVVGAGPAA AAAAAKAAAK AAQFGLVGAA GLGGLGVGGL GVPGVGGLGG IPPAAAAKAA KYGVAARPGF GLSPIFPGGA CLGKACGRKR K* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2136 / 2136 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 712 / 712 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2154 / 2154 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 19 / 19 | |||||||||||||
| Last intron/exon boundary | 2110 | |||||||||||||
| Theoretical NMD boundary in CDS | 2041 | |||||||||||||
| Length of CDS | 2136 | |||||||||||||
| Coding sequence (CDS) position | 913 | |||||||||||||
| cDNA position | 931 | |||||||||||||
| gDNA position | 24144 | |||||||||||||
| Chromosomal position | 74051932 | |||||||||||||
| Speed | 0.04 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr7:74051932A>T (GRCh38) | |||||||||||||
| Gene symbol | ELN | |||||||||||||
| Gene constraints | LOEUF: 0.67, LOF (oe): 0.54, misssense (oe): 0.89, synonymous (oe): 0.91 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000429192.5 | |||||||||||||
| Genbank transcript ID | NM_001081753 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | ELN_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.913A>T g.24144A>T | |||||||||||||
| 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 | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Original cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Wildtype AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAAPSVP GAVVPQPGAG VKPGKVPGVG LPGVYPGGVL PGARFPGVGV LPGVPTGAGV KPKAPGVGGA FAGIPGVGPF GGPQPGVPLG YPIKAPKLPG GYGLPYTTGK LPYGYGPGGV AGAAGKAGYP TGTGVGPQAA AAAAAKAAAK FGAGAAGVLP GVGGAGVPGV PGAIPGIGGI AGVGTPAAAA AAAAAAKAAK YGAAAGLVPG GPGFGPGVVG VPGAGVPGVG VPGAGIPVVP GAGIPGAAVP GVVSPEAAAK AAAKAAKYGA RPGVGVGGIP TYGVGAGGFP GFGVGVGGIP GVAGVPGVGG VPGVGGVPGV GISPEAQAAA AAKAAKYGLV PGVGVAPGVG VAPGVGVAPG VGLAPGVGVA PGVGVAPGVG VAPGIGPGGV AAAAKSAAKV AAKAQLRAAA GLGAGIPGLG VGVGVPGLGV GAGVPGLGVG AGVPGFGAVP GALAAAKAAK YGAAVPGVLG GLGALGGVGI PGGVVGAGPA AAAAAAKAAA KAAQFGLVGA AGLGGLGVGG LGVPGVGGLG GIPPAAAAKA AKYGVAARPG FGLSPIFPGG ACLGKACGRK RK* | |||||||||||||
| Mutated AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAAPSVP GAVVPQPGAG VKPGKVPGVG LPGVYPGGVL PGARFPGVGV LPGVPTGAGV KPKAPGVGGA FAGIPGVGPF GGPQPGVPLG YPIKAPKLPG GYGLPYTTGK LPYGYGPGGV AGAAGKAGYP TGTGVGPQAA AAAAAKAAAK FGAGAAGVLP GVGGAGVPGV PGAIPGIGGI AGVGSPAAAA AAAAAAKAAK YGAAAGLVPG GPGFGPGVVG VPGAGVPGVG VPGAGIPVVP GAGIPGAAVP GVVSPEAAAK AAAKAAKYGA RPGVGVGGIP TYGVGAGGFP GFGVGVGGIP GVAGVPGVGG VPGVGGVPGV GISPEAQAAA AAKAAKYGLV PGVGVAPGVG VAPGVGVAPG VGLAPGVGVA PGVGVAPGVG VAPGIGPGGV AAAAKSAAKV AAKAQLRAAA GLGAGIPGLG VGVGVPGLGV GAGVPGLGVG AGVPGFGAVP GALAAAKAAK YGAAVPGVLG GLGALGGVGI PGGVVGAGPA AAAAAAKAAA KAAQFGLVGA AGLGGLGVGG LGVPGVGGLG GIPPAAAAKA AKYGVAARPG FGLSPIFPGG ACLGKACGRK RK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2079 / 2079 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 693 / 693 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2094 / 2094 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 16 / 16 | |||||||||||||
| Last intron/exon boundary | 2050 | |||||||||||||
| Theoretical NMD boundary in CDS | 1984 | |||||||||||||
| Length of CDS | 2079 | |||||||||||||
| Coding sequence (CDS) position | 913 | |||||||||||||
| cDNA position | 928 | |||||||||||||
| gDNA position | 24144 | |||||||||||||
| Chromosomal position | 74051932 | |||||||||||||
| Speed | 0.04 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr7:74051932A>T (GRCh38) | |||||||||||||
| Gene symbol | ELN | |||||||||||||
| Gene constraints | LOEUF: 0.61, LOF (oe): 0.48, misssense (oe): 0.89, synonymous (oe): 0.92 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000320492.11 | |||||||||||||
| Genbank transcript ID | NM_001278913 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.790A>T g.24144A>T | |||||||||||||
| 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 | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Original cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Wildtype AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG KPLKPGLGAF PAVTFPGALV PGGVADAAAA YKAAKAGAGL GGVPGVGGLG VSAGAVVPQP GAGVKPGKVP GVGLPGVYPG GVLPGARFPG VGVLPGVPTG AGVKPKAPGV GPFGGPQPGV PLGYPIKAPK LPGYGPGGVA GAAGKAGYPT GTGVGPQAAA AAAAKAAAKF GAGAAGVLPG VGGAGVPGVP GAIPGIGGIA GVGTPAAAAA AAAAAKAAKY GAAAGLVPGG PGFGPGVVGV PGAGVPGVGV PGAGIPVVPG AGIPGAAVPG VVSPEAAAKA AAKAAKYGAR PGVGVGGIPT YGVGAGGFPG FGVGVGAEAQ AAAAAKAAKY GLVPGVGVAP GVGVAPGVGV APGVGLAPGV GVAPGVGVAP GVGVAPGIGP GGVAAAAKSA AKVAAKAQLR AAAGLGAGIP GLGVGVGVPG LGVGAGVPGL GVGAGVPGFG AVPGALAAAK AAKYGAAVPG VLGGLGALGG VGIPGGVVGA GPAAAAAAAK AAAKAAQFGL VGAAGLGGLG VGGLGVPGVG GLGGIPPAAA AKAAKYGAAG LGGVLGGAGQ FPLGGVAARP GFGLSPIFPG GACLGKACGR KRK* | |||||||||||||
| Mutated AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG KPLKPGLGAF PAVTFPGALV PGGVADAAAA YKAAKAGAGL GGVPGVGGLG VSAGAVVPQP GAGVKPGKVP GVGLPGVYPG GVLPGARFPG VGVLPGVPTG AGVKPKAPGV GPFGGPQPGV PLGYPIKAPK LPGYGPGGVA GAAGKAGYPT GTGVGPQAAA AAAAKAAAKF GAGAAGVLPG VGGAGVPGVP GAIPGIGGIA GVGSPAAAAA AAAAAKAAKY GAAAGLVPGG PGFGPGVVGV PGAGVPGVGV PGAGIPVVPG AGIPGAAVPG VVSPEAAAKA AAKAAKYGAR PGVGVGGIPT YGVGAGGFPG FGVGVGAEAQ AAAAAKAAKY GLVPGVGVAP GVGVAPGVGV APGVGLAPGV GVAPGVGVAP GVGVAPGIGP GGVAAAAKSA AKVAAKAQLR AAAGLGAGIP GLGVGVGVPG LGVGAGVPGL GVGAGVPGFG AVPGALAAAK AAKYGAAVPG VLGGLGALGG VGIPGGVVGA GPAAAAAAAK AAAKAAQFGL VGAAGLGGLG VGGLGVPGVG GLGGIPPAAA AKAAKYGAAG LGGVLGGAGQ FPLGGVAARP GFGLSPIFPG GACLGKACGR KRK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1932 / 1932 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 644 / 644 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2014 / 2014 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 83 / 83 | |||||||||||||
| Last intron/exon boundary | 1970 | |||||||||||||
| Theoretical NMD boundary in CDS | 1837 | |||||||||||||
| Length of CDS | 1932 | |||||||||||||
| Coding sequence (CDS) position | 790 | |||||||||||||
| cDNA position | 872 | |||||||||||||
| gDNA position | 24144 | |||||||||||||
| Chromosomal position | 74051932 | |||||||||||||
| Speed | 0.04 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr7:74051932A>T (GRCh38) | ||||||||||||||||
| Gene symbol | ELN | ||||||||||||||||
| Gene constraints | LOEUF: 0.64, LOF (oe): 0.50, misssense (oe): 0.90, synonymous (oe): 0.91 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000380584.8 | ||||||||||||||||
| Genbank transcript ID | NM_001278916 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | ELN_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.856A>T g.24144A>T | ||||||||||||||||
| 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 | 9 | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 7 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | ||||||||||||||||
| Altered gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | ||||||||||||||||
| Original cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | ||||||||||||||||
| Altered cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | ||||||||||||||||
| Wildtype AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGYGPGG VAGAAGKAGY PTGTGVGPQA AAAAAAKAAA KFGAGAAGVL PGVGGAGVPG VPGAIPGIGG IAGVGTPAAA AAAAAAAKAA KYGAAAGLVP GGPGFGPGVV GVPGAGVPGV GVPGAGIPVV PGAGIPGAAV PGVVSPEAAA KAAAKAAKYG ARPGVGVGGI PTYGVGAGGF PGFGVGVGGI PGVAGVPGVG GVPGVGGVPG VGISPEAQAA AAAKAAKYGL VPGVGVAPGV GVAPGVGVAP GVGLAPGVGV APGVGVAPGV GVAPGIGPGG VAGAAAGLGA GIPGLGVGVG VPGLGVGAGV PGLGVGAGVP GFGAVPGALA AAKAAKYGAA VPGVLGGLGA LGGVGIPGGV VGAGPAAAAA AAKAAAKAAQ FGLVGAAGLG GLGVGGLGVP GVGGLGGIPP AAAAKAAKYG VAARPGFGLS PIFPGGACLG KACGRKRK* | ||||||||||||||||
| Mutated AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGYGPGG VAGAAGKAGY PTGTGVGPQA AAAAAAKAAA KFGAGAAGVL PGVGGAGVPG VPGAIPGIGG IAGVGSPAAA AAAAAAAKAA KYGAAAGLVP GGPGFGPGVV GVPGAGVPGV GVPGAGIPVV PGAGIPGAAV PGVVSPEAAA KAAAKAAKYG ARPGVGVGGI PTYGVGAGGF PGFGVGVGGI PGVAGVPGVG GVPGVGGVPG VGISPEAQAA AAAKAAKYGL VPGVGVAPGV GVAPGVGVAP GVGLAPGVGV APGVGVAPGV GVAPGIGPGG VAGAAAGLGA GIPGLGVGVG VPGLGVGAGV PGLGVGAGVP GFGAVPGALA AAKAAKYGAA VPGVLGGLGA LGGVGIPGGV VGAGPAAAAA AAKAAAKAAQ FGLVGAAGLG GLGVGGLGVP GVGGLGGIPP AAAAKAAKYG VAARPGFGLS PIFPGGACLG KACGRKRK* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 1977 / 1977 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 659 / 659 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 2007 / 2007 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 31 / 31 | ||||||||||||||||
| Last intron/exon boundary | 1963 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 1882 | ||||||||||||||||
| Length of CDS | 1977 | ||||||||||||||||
| Coding sequence (CDS) position | 856 | ||||||||||||||||
| cDNA position | 886 | ||||||||||||||||
| gDNA position | 24144 | ||||||||||||||||
| Chromosomal position | 74051932 | ||||||||||||||||
| 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 | Chr7:74051932A>T (GRCh38) | |||||||||||||
| Gene symbol | ELN | |||||||||||||
| Gene constraints | LOEUF: 0.64, LOF (oe): 0.49, misssense (oe): 0.89, synonymous (oe): 0.91 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000380553.8 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | ELN_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.547A>T g.24144A>T | |||||||||||||
| 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 | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Original cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Wildtype AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG KPLKPVPGGL AGAGLGAGVG GAFAGIPGVG PFGGPQPGVP LGYPIKAPKL PGYGPGGVAG AAGKAGYPTG TGVGPQAAAA AAAKAAAKFG AGAAGVLPGV GGAGVPGVPG AIPGIGGIAG VGTPAAAAAA AAAAKAAKYG AAAGLVPGGP GFGPGVVGVP GAGVPGVGVP GAGIPVVPGA GIPGAAVPGV VSPEAAAKAA AKAAKYGARP GVGVGGIPTY GVGAGGFPGF GVGVGGIPGV AGVPGVGGVP GVGGVPGVGI SPEAQAAAAA KAAKYGLVPG VGVAPGVGVA PGVGVAPGVG LAPGVGVAPG VGVAPGVGVA PGIGPGGVAA AAKSAAKVAA KAQLRAAAGL GAGIPGLGVG VGVPGLGVGA GVPGLGVGAG VPGFGAVPGA LAAAKAAKYG AAVPGVLGGL GALGGVGIPG GVVGAGPAAA AAAAKAAAKA AQFGLVGAAG LGGLGVGGLG VPGVGGLGGI PPAAAAKAAK YGVAARPGFG LSPIFPGGAC LGKACGRKRK * | |||||||||||||
| Mutated AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG KPLKPVPGGL AGAGLGAGVG GAFAGIPGVG PFGGPQPGVP LGYPIKAPKL PGYGPGGVAG AAGKAGYPTG TGVGPQAAAA AAAKAAAKFG AGAAGVLPGV GGAGVPGVPG AIPGIGGIAG VGSPAAAAAA AAAAKAAKYG AAAGLVPGGP GFGPGVVGVP GAGVPGVGVP GAGIPVVPGA GIPGAAVPGV VSPEAAAKAA AKAAKYGARP GVGVGGIPTY GVGAGGFPGF GVGVGGIPGV AGVPGVGGVP GVGGVPGVGI SPEAQAAAAA KAAKYGLVPG VGVAPGVGVA PGVGVAPGVG LAPGVGVAPG VGVAPGVGVA PGIGPGGVAA AAKSAAKVAA KAQLRAAAGL GAGIPGLGVG VGVPGLGVGA GVPGLGVGAG VPGFGAVPGA LAAAKAAKYG AAVPGVLGGL GALGGVGIPG GVVGAGPAAA AAAAKAAAKA AQFGLVGAAG LGGLGVGGLG VPGVGGLGGI PPAAAAKAAK YGVAARPGFG LSPIFPGGAC LGKACGRKRK * | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1713 / 1713 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 571 / 571 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1726 / 1726 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 14 / 14 | |||||||||||||
| Last intron/exon boundary | 1682 | |||||||||||||
| Theoretical NMD boundary in CDS | 1618 | |||||||||||||
| Length of CDS | 1713 | |||||||||||||
| Coding sequence (CDS) position | 547 | |||||||||||||
| cDNA position | 560 | |||||||||||||
| gDNA position | 24144 | |||||||||||||
| Chromosomal position | 74051932 | |||||||||||||
| Speed | 0.05 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 | Chr7:74051932A>T (GRCh38) | |||||||||||||
| Gene symbol | ELN | |||||||||||||
| Gene constraints | LOEUF: 0.68, LOF (oe): 0.54, misssense (oe): 0.89, synonymous (oe): 0.91 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000380576.9 | |||||||||||||
| Genbank transcript ID | NM_001081755 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | ELN_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.898A>T g.24144A>T | |||||||||||||
| 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 | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Original cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Wildtype AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGT PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGLVPGVGV APGVGVAPGV GVAPGVGLAP GVGVAPGVGV APGVGVAPGI GPGGVAAAAK SAAKVAAKAQ LRAAAGLGAG IPGLGVGVGV PGLGVGAGVP GLGVGAGVPG FGAVPGALAA AKAAKYGAAV PGVLGGLGAL GGVGIPGGVV GAGPAAAAAA AKAAAKAAQF GLVGAAGLGG LGVGGLGVPG VGGLGGIPPA AAAKAAKYGA AGLGGVLGGA GQFPLGGVAA RPGFGLSPIF PGGACLGKAC GRKRK* | |||||||||||||
| Mutated AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGS PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGLVPGVGV APGVGVAPGV GVAPGVGLAP GVGVAPGVGV APGVGVAPGI GPGGVAAAAK SAAKVAAKAQ LRAAAGLGAG IPGLGVGVGV PGLGVGAGVP GLGVGAGVPG FGAVPGALAA AKAAKYGAAV PGVLGGLGAL GGVGIPGGVV GAGPAAAAAA AKAAAKAAQF GLVGAAGLGG LGVGGLGVPG VGGLGGIPPA AAAKAAKYGA AGLGGVLGGA GQFPLGGVAA RPGFGLSPIF PGGACLGKAC GRKRK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2118 / 2118 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 706 / 706 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2131 / 2131 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 14 / 14 | |||||||||||||
| Last intron/exon boundary | 2087 | |||||||||||||
| Theoretical NMD boundary in CDS | 2023 | |||||||||||||
| Length of CDS | 2118 | |||||||||||||
| Coding sequence (CDS) position | 898 | |||||||||||||
| cDNA position | 911 | |||||||||||||
| gDNA position | 24144 | |||||||||||||
| Chromosomal position | 74051932 | |||||||||||||
| Speed | 0.03 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 | Chr7:74051932A>T (GRCh38) | |||||||||||||
| Gene symbol | ELN | |||||||||||||
| Gene constraints | LOEUF: 0.72, LOF (oe): 0.58, misssense (oe): 0.89, synonymous (oe): 0.91 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000320399.10 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | ELN_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.898A>T g.24144A>T | |||||||||||||
| 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 | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Original cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Wildtype AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGT PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGVGTPAAA AAKAAAKAAQ FGLVPGVGVA PGVGVAPGVG VAPGVGLAPG VGVAPGVGVA PGVGVAPGIG PGGVAAAAKS AAKVAAKAQL RAAAGLGAGI PGLGVGVGVP GLGVGAGVPG LGVGAGVPGF GAGADEGVRR SLSPELREGD PSSSQHLPST PSSPRVPGAL AAAKAAKYGA AVPGVLGGLG ALGGVGIPGG VVGAGPAAAA AAAKAAAKAA QFGLVGAAGL GGLGVGGLGV PGVGGLGGIP PAAAAKAAKY GAAGLGGVLG GAGQFPLGGV AARPGFGLSP IFPGGACLGK ACGRKRK* | |||||||||||||
| Mutated AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGS PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGVGTPAAA AAKAAAKAAQ FGLVPGVGVA PGVGVAPGVG VAPGVGLAPG VGVAPGVGVA PGVGVAPGIG PGGVAAAAKS AAKVAAKAQL RAAAGLGAGI PGLGVGVGVP GLGVGAGVPG LGVGAGVPGF GAGADEGVRR SLSPELREGD PSSSQHLPST PSSPRVPGAL AAAKAAKYGA AVPGVLGGLG ALGGVGIPGG VVGAGPAAAA AAAKAAAKAA QFGLVGAAGL GGLGVGGLGV PGVGGLGGIP PAAAAKAAKY GAAGLGGVLG GAGQFPLGGV AARPGFGLSP IFPGGACLGK ACGRKRK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2274 / 2274 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 758 / 758 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2274 / 2274 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | |||||||||||||
| Last intron/exon boundary | 2230 | |||||||||||||
| Theoretical NMD boundary in CDS | 2179 | |||||||||||||
| Length of CDS | 2274 | |||||||||||||
| Coding sequence (CDS) position | 898 | |||||||||||||
| cDNA position | 898 | |||||||||||||
| gDNA position | 24144 | |||||||||||||
| Chromosomal position | 74051932 | |||||||||||||
| Speed | 0.05 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 | Chr7:74051932A>T (GRCh38) | |||||||||||||
| Gene symbol | ELN | |||||||||||||
| Gene constraints | LOEUF: 0.64, LOF (oe): 0.49, misssense (oe): 0.90, synonymous (oe): 0.93 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000621115.4 | |||||||||||||
| Genbank transcript ID | NM_001278918 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.766A>T g.24144A>T | |||||||||||||
| 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 | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Original cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Wildtype AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGVGP FGGPQPGVPL GYPIKAPKLP GGYGLPYTTG KLPYGYGPGG VAGAAGKAGY PTGTGVGPQA AAAAAAKAAA KFGAGAAGVL PGVGGAGVPG VPGAIPGIGG IAGVGTPAAA AAAAAAAKAA KYGAAAGLVP GGPGFGPGVV GVPGAGVPGV GVPGAGIPVV PGAGIPGAAV PGVVSPEAAA KAAAKAAKYG ARPGVGVGGI PTYGVGAGGF PGFGVGVGAE AQAAAAAKAA KYGLVPGVGV APGVGVAPGV GVAPGVGLAP GVGVAPGVGV APGVGVAPGI GPGGVAAAAK SAAKVAAKAQ LRAAAGLGAG IPGLGVGVGV PGLGVGAGVP GLGVGAGVPG FGAVPGALAA AKAAKYGAAV PGVLGGLGAL GGVGIPGGVV GAGPAAAAAA AKAAAKAAQF GLVGAAGLGG LGVGGLGVPG VGGLGGIPPA AAAKAAKYGV AARPGFGLSP IFPGGACLGK ACGRKRK* | |||||||||||||
| Mutated AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGVGP FGGPQPGVPL GYPIKAPKLP GGYGLPYTTG KLPYGYGPGG VAGAAGKAGY PTGTGVGPQA AAAAAAKAAA KFGAGAAGVL PGVGGAGVPG VPGAIPGIGG IAGVGSPAAA AAAAAAAKAA KYGAAAGLVP GGPGFGPGVV GVPGAGVPGV GVPGAGIPVV PGAGIPGAAV PGVVSPEAAA KAAAKAAKYG ARPGVGVGGI PTYGVGAGGF PGFGVGVGAE AQAAAAAKAA KYGLVPGVGV APGVGVAPGV GVAPGVGLAP GVGVAPGVGV APGVGVAPGI GPGGVAAAAK SAAKVAAKAQ LRAAAGLGAG IPGLGVGVGV PGLGVGAGVP GLGVGAGVPG FGAVPGALAA AKAAKYGAAV PGVLGGLGAL GGVGIPGGVV GAGPAAAAAA AKAAAKAAQF GLVGAAGLGG LGVGGLGVPG VGGLGGIPPA AAAKAAKYGV AARPGFGLSP IFPGGACLGK ACGRKRK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1854 / 1854 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 618 / 618 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2253 / 2253 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 400 / 400 | |||||||||||||
| Last intron/exon boundary | 2209 | |||||||||||||
| Theoretical NMD boundary in CDS | 1759 | |||||||||||||
| Length of CDS | 1854 | |||||||||||||
| Coding sequence (CDS) position | 766 | |||||||||||||
| cDNA position | 1165 | |||||||||||||
| gDNA position | 24144 | |||||||||||||
| Chromosomal position | 74051932 | |||||||||||||
| Speed | 0.04 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr7:74051932A>T (GRCh38) | |||||||||||||
| Gene symbol | ELN | |||||||||||||
| Gene constraints | LOEUF: 0.73, LOF (oe): 0.60, misssense (oe): 0.90, synonymous (oe): 0.93 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000692049.1 | |||||||||||||
| Genbank transcript ID | NM_001278939 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | ELN_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.898A>T g.24144A>T | |||||||||||||
| 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 | 9 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 7 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered gDNA sequence snippet | CTGTGTTTTCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Original cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGACTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Altered cDNA sequence snippet | GAGGCATCGCAGGCGTTGGGTCTCCAGCTGCAGCTGCAGCT | |||||||||||||
| Wildtype AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGT PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGAAGAGVL GGLVPGAPGA VPGVPGTGGV PGVGTPAAAA AKAAAKAAQF GLVPGVGVAP GVGVAPGVGV APGVGLAPGV GVAPGVGVAP GVGVAPGIGP GGVAAAAKSA AKVAAKAQLR AAAGLGAGIP GLGVGVGVPG LGVGAGVPGL GVGAGVPGFG AGADEGVRRS LSPELREGDP SSSQHLPSTP SSPRVPGALA AAKAAKYGAA VPGVLGGLGA LGGVGIPGGV VGAGPAAAAA AAKAAAKAAQ FGLVGAAGLG GLGVGGLGVP GVGGLGGIPP AAAAKAAKYG AAGLGGVLGG AGQFPLGGVA ARPGFGLSPI FPGGACLGKA CGRKRK* | |||||||||||||
| Mutated AA sequence | MAGLTAAAPR PGVLLLLLSI LHPSRPGGVP GAIPGGVPGG VFYPGAGLGA LGGGALGPGG KPLKPVPGGL AGAGLGAGLG AFPAVTFPGA LVPGGVADAA AAYKAAKAGA GLGGVPGVGG LGVSAGAVVP QPGAGVKPGK VPGVGLPGVY PGGVLPGARF PGVGVLPGVP TGAGVKPKAP GVGGAFAGIP GVGPFGGPQP GVPLGYPIKA PKLPGGYGLP YTTGKLPYGY GPGGVAGAAG KAGYPTGTGV GPQAAAAAAA KAAAKFGAGA AGVLPGVGGA GVPGVPGAIP GIGGIAGVGS PAAAAAAAAA AKAAKYGAAA GLVPGGPGFG PGVVGVPGAG VPGVGVPGAG IPVVPGAGIP GAAVPGVVSP EAAAKAAAKA AKYGARPGVG VGGIPTYGVG AGGFPGFGVG VGGIPGVAGV PGVGGVPGVG GVPGVGISPE AQAAAAAKAA KYGAAGAGVL GGLVPGAPGA VPGVPGTGGV PGVGTPAAAA AKAAAKAAQF GLVPGVGVAP GVGVAPGVGV APGVGLAPGV GVAPGVGVAP GVGVAPGIGP GGVAAAAKSA AKVAAKAQLR AAAGLGAGIP GLGVGVGVPG LGVGAGVPGL GVGAGVPGFG AGADEGVRRS LSPELREGDP SSSQHLPSTP SSPRVPGALA AAKAAKYGAA VPGVLGGLGA LGGVGIPGGV VGAGPAAAAA AAKAAAKAAQ FGLVGAAGLG GLGVGGLGVP GVGGLGGIPP AAAAKAAKYG AAGLGGVLGG AGQFPLGGVA ARPGFGLSPI FPGGACLGKA CGRKRK* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2361 / 2361 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 787 / 787 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2361 / 2361 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | |||||||||||||
| Last intron/exon boundary | 2317 | |||||||||||||
| Theoretical NMD boundary in CDS | 2266 | |||||||||||||
| Length of CDS | 2361 | |||||||||||||
| Coding sequence (CDS) position | 898 | |||||||||||||
| cDNA position | 898 | |||||||||||||
| gDNA position | 24144 | |||||||||||||
| Chromosomal position | 74051932 | |||||||||||||
| Speed | 0.04 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project