| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BDNF | Deleterious | 103|97 | without_ | No | Single base exchange | Normal | |||||||
| BDNF | Deleterious | 103|97 | without_ | No | Single base exchange | Normal | |||||||
| BDNF | Deleterious | 103|97 | without_ | No | Single base exchange | Normal | |||||||
| BDNF | Deleterious | 103|97 | without_ | No | Single base exchange | Normal | |||||||
| BDNF | Deleterious | 103|97 | without_ | No | Single base exchange | Normal | |||||||
| BDNF | Deleterious | 103|97 | without_ | No | Single base exchange | Normal | |||||||
| BDNF | Deleterious | 103|97 | without_ | No | Single base exchange | Normal | |||||||
| BDNF | Deleterious | 103|97 | without_ | No | Single base exchange | Normal | |||||||
| BDNF | Deleterious | 103|97 | without_ | No | Single base exchange | Normal | |||||||
| BDNF | Deleterious | 103|97 | without_ | No | Single base exchange | Normal | |||||||
| BDNF | Deleterious | 103|97 | without_ | No | Single base exchange | Normal | |||||||
| BDNF | Deleterious | 103|97 | without_ | No | Single base exchange | Normal | |||||||
ENST00000356660(MANE Select) | BDNF | Deleterious | 103|97 | without_ | No | Single base exchange | Normal | ||||||
| BDNF | Deleterious | 105|95 | without_ | No | Single base exchange | Normal | |||||||
| BDNF | Benign | 99|101 | without_ | No | Single base exchange | Normal |
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr11:27657923G>A (GRCh38) | |||||||||||||
| Gene symbol | BDNF | |||||||||||||
| Gene constraints | LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000439476.6 | |||||||||||||
| Genbank transcript ID | NM_001143816 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.642C>T g.64136C>T | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered gDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Original cDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered cDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Wildtype AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Mutated AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 744 / 744 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 248 / 248 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1604 / 1604 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 861 / 861 | |||||||||||||
| Last intron/exon boundary | 839 | |||||||||||||
| Theoretical NMD boundary in CDS | cannot be calculated, distance between start ATG and last intron/exon boundary is too small | |||||||||||||
| Length of CDS | 744 | |||||||||||||
| Coding sequence (CDS) position | 642 | |||||||||||||
| cDNA position | 1502 | |||||||||||||
| gDNA position | 64136 | |||||||||||||
| Chromosomal position | 27657923 | |||||||||||||
| Speed | 0.02 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 | Chr11:27657923G>A (GRCh38) | |||||||||||||
| Gene symbol | BDNF | |||||||||||||
| Gene constraints | LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000418212.5 | |||||||||||||
| Genbank transcript ID | NM_001143814 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.642C>T g.64136C>T | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered gDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Original cDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered cDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Wildtype AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Mutated AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 744 / 744 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 248 / 248 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1197 / 1197 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 454 / 454 | |||||||||||||
| Last intron/exon boundary | 432 | |||||||||||||
| Theoretical NMD boundary in CDS | cannot be calculated, distance between start ATG and last intron/exon boundary is too small | |||||||||||||
| Length of CDS | 744 | |||||||||||||
| Coding sequence (CDS) position | 642 | |||||||||||||
| cDNA position | 1095 | |||||||||||||
| gDNA position | 64136 | |||||||||||||
| Chromosomal position | 27657923 | |||||||||||||
| Speed | 0.01 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 | Chr11:27657923G>A (GRCh38) | |||||||||||||
| Gene symbol | BDNF | |||||||||||||
| Gene constraints | LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000533246.5 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.642C>T g.64136C>T | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered gDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Original cDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered cDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Wildtype AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Mutated AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 744 / 744 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 248 / 248 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1072 / 1072 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 329 / 329 | |||||||||||||
| Last intron/exon boundary | 307 | |||||||||||||
| Theoretical NMD boundary in CDS | cannot be calculated, distance between start ATG and last intron/exon boundary is too small | |||||||||||||
| Length of CDS | 744 | |||||||||||||
| Coding sequence (CDS) position | 642 | |||||||||||||
| cDNA position | 970 | |||||||||||||
| gDNA position | 64136 | |||||||||||||
| Chromosomal position | 27657923 | |||||||||||||
| Speed | 0.02 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 | Chr11:27657923G>A (GRCh38) | |||||||||||||
| Gene symbol | BDNF | |||||||||||||
| Gene constraints | LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000530861.5 | |||||||||||||
| Genbank transcript ID | NM_001143812 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.642C>T g.64136C>T | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered gDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Original cDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered cDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Wildtype AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Mutated AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 744 / 744 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 248 / 248 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 990 / 990 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 247 / 247 | |||||||||||||
| Last intron/exon boundary | 225 | |||||||||||||
| Theoretical NMD boundary in CDS | cannot be calculated, distance between start ATG and last intron/exon boundary is too small | |||||||||||||
| Length of CDS | 744 | |||||||||||||
| Coding sequence (CDS) position | 642 | |||||||||||||
| cDNA position | 888 | |||||||||||||
| gDNA position | 64136 | |||||||||||||
| Chromosomal position | 27657923 | |||||||||||||
| Speed | 0.01 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 | Chr11:27657923G>A (GRCh38) | |||||||||||||
| Gene symbol | BDNF | |||||||||||||
| Gene constraints | LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000395983.7 | |||||||||||||
| Genbank transcript ID | NM_001143808 (by similarity), NM_001143809 (by similarity), NM_001143811 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.642C>T g.64136C>T | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered gDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Original cDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered cDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Wildtype AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Mutated AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 744 / 744 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 248 / 248 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 848 / 848 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 105 / 105 | |||||||||||||
| Last intron/exon boundary | 83 | |||||||||||||
| Theoretical NMD boundary in CDS | cannot be calculated, distance between start ATG and last intron/exon boundary is too small | |||||||||||||
| Length of CDS | 744 | |||||||||||||
| Coding sequence (CDS) position | 642 | |||||||||||||
| cDNA position | 746 | |||||||||||||
| gDNA position | 64136 | |||||||||||||
| Chromosomal position | 27657923 | |||||||||||||
| Speed | 0.01 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 | Chr11:27657923G>A (GRCh38) | |||||||||||||
| Gene symbol | BDNF | |||||||||||||
| Gene constraints | LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000532997.5 | |||||||||||||
| Genbank transcript ID | NM_001143807 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.642C>T g.64136C>T | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered gDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Original cDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered cDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Wildtype AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Mutated AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 744 / 744 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 248 / 248 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1002 / 1002 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 259 / 259 | |||||||||||||
| Last intron/exon boundary | 237 | |||||||||||||
| Theoretical NMD boundary in CDS | cannot be calculated, distance between start ATG and last intron/exon boundary is too small | |||||||||||||
| Length of CDS | 744 | |||||||||||||
| Coding sequence (CDS) position | 642 | |||||||||||||
| cDNA position | 900 | |||||||||||||
| gDNA position | 64136 | |||||||||||||
| Chromosomal position | 27657923 | |||||||||||||
| Speed | 0.01 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 | Chr11:27657923G>A (GRCh38) | |||||||||||||
| Gene symbol | BDNF | |||||||||||||
| Gene constraints | LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000395981.7 | |||||||||||||
| Genbank transcript ID | NM_170732 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.642C>T g.64136C>T | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered gDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Original cDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered cDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Wildtype AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Mutated AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 744 / 744 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 248 / 248 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1143 / 1143 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 400 / 400 | |||||||||||||
| Last intron/exon boundary | 378 | |||||||||||||
| Theoretical NMD boundary in CDS | cannot be calculated, distance between start ATG and last intron/exon boundary is too small | |||||||||||||
| Length of CDS | 744 | |||||||||||||
| Coding sequence (CDS) position | 642 | |||||||||||||
| cDNA position | 1041 | |||||||||||||
| gDNA position | 64136 | |||||||||||||
| Chromosomal position | 27657923 | |||||||||||||
| Speed | 0.01 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 | Chr11:27657923G>A (GRCh38) | |||||||||||||
| Gene symbol | BDNF | |||||||||||||
| Gene constraints | LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000395978.7 | |||||||||||||
| Genbank transcript ID | NM_001143806 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.642C>T g.64136C>T | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered gDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Original cDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered cDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Wildtype AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Mutated AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 744 / 744 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 248 / 248 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1060 / 1060 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 317 / 317 | |||||||||||||
| Last intron/exon boundary | 295 | |||||||||||||
| Theoretical NMD boundary in CDS | cannot be calculated, distance between start ATG and last intron/exon boundary is too small | |||||||||||||
| Length of CDS | 744 | |||||||||||||
| Coding sequence (CDS) position | 642 | |||||||||||||
| cDNA position | 958 | |||||||||||||
| gDNA position | 64136 | |||||||||||||
| Chromosomal position | 27657923 | |||||||||||||
| Speed | 0.01 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 | Chr11:27657923G>A (GRCh38) | |||||||||||||
| Gene symbol | BDNF | |||||||||||||
| Gene constraints | LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000525950.5 | |||||||||||||
| Genbank transcript ID | NM_001143805 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.642C>T g.64136C>T | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered gDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Original cDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered cDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Wildtype AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Mutated AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 744 / 744 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 248 / 248 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 901 / 901 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 158 / 158 | |||||||||||||
| Last intron/exon boundary | 136 | |||||||||||||
| Theoretical NMD boundary in CDS | cannot be calculated, distance between start ATG and last intron/exon boundary is too small | |||||||||||||
| Length of CDS | 744 | |||||||||||||
| Coding sequence (CDS) position | 642 | |||||||||||||
| cDNA position | 799 | |||||||||||||
| gDNA position | 64136 | |||||||||||||
| Chromosomal position | 27657923 | |||||||||||||
| Speed | 0.01 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 | Chr11:27657923G>A (GRCh38) | |||||||||||||
| Gene symbol | BDNF | |||||||||||||
| Gene constraints | LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000525528.1 | |||||||||||||
| Genbank transcript ID | NM_170733 (by similarity), NM_170735 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.642C>T g.64136C>T | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered gDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Original cDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered cDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Wildtype AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Mutated AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 744 / 744 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 248 / 248 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1838 / 1838 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1095 / 1095 | |||||||||||||
| Last intron/exon boundary | 0 | |||||||||||||
| Theoretical NMD boundary in CDS | cannot be calculated, distance between start ATG and last intron/exon boundary is too small | |||||||||||||
| Length of CDS | 744 | |||||||||||||
| Coding sequence (CDS) position | 642 | |||||||||||||
| cDNA position | 1736 | |||||||||||||
| gDNA position | 64136 | |||||||||||||
| Chromosomal position | 27657923 | |||||||||||||
| Speed | 0.01 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 | Chr11:27657923G>A (GRCh38) | |||||||||||||
| Gene symbol | BDNF | |||||||||||||
| Gene constraints | LOEUF: 0.52, LOF (oe): 0.28, misssense (oe): 0.61, synonymous (oe): 0.78 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000395986.6 | |||||||||||||
| Genbank transcript ID | NM_170734 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.687C>T g.64136C>T | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered gDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Original cDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered cDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Wildtype AA sequence | MQSREEEWFH QVRRVMTILF LTMVISYFGC MKAAPMKEAN IRGQGGLAYP GVRTHGTLES VNGPKAGSRG LTSLADTFEH VIEELLDEDQ KVRPNEENNK DADLYTSRVM LSSQVPLEPP LLFLLEEYKN YLDAANMSMR VRRHSDPARR GELSVCDSIS EWVTAADKKT AVDMSGGTVT VLEKVPVSKG QLKQYFYETK CNPMGYTKEG CRGIDKRHWN SQCRTTQSYV RALTMDSKKR IGWRFIRIDT SCVCTLTIKR GR* | |||||||||||||
| Mutated AA sequence | MQSREEEWFH QVRRVMTILF LTMVISYFGC MKAAPMKEAN IRGQGGLAYP GVRTHGTLES VNGPKAGSRG LTSLADTFEH VIEELLDEDQ KVRPNEENNK DADLYTSRVM LSSQVPLEPP LLFLLEEYKN YLDAANMSMR VRRHSDPARR GELSVCDSIS EWVTAADKKT AVDMSGGTVT VLEKVPVSKG QLKQYFYETK CNPMGYTKEG CRGIDKRHWN SQCRTTQSYV RALTMDSKKR IGWRFIRIDT SCVCTLTIKR GR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 789 / 789 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 263 / 263 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1051 / 1051 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 263 / 263 | |||||||||||||
| Last intron/exon boundary | 286 | |||||||||||||
| Theoretical NMD boundary in CDS | cannot be calculated, distance between start ATG and last intron/exon boundary is too small | |||||||||||||
| Length of CDS | 789 | |||||||||||||
| Coding sequence (CDS) position | 687 | |||||||||||||
| cDNA position | 949 | |||||||||||||
| gDNA position | 64136 | |||||||||||||
| Chromosomal position | 27657923 | |||||||||||||
| Speed | 0.01 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 | Chr11:27657923G>A (GRCh38) | |||||||||||||
| Gene symbol | BDNF | |||||||||||||
| Gene constraints | LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000533131.5 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.642C>T g.64136C>T | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered gDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Original cDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered cDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Wildtype AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Mutated AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 744 / 744 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 248 / 248 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 950 / 950 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 207 / 207 | |||||||||||||
| Last intron/exon boundary | 185 | |||||||||||||
| Theoretical NMD boundary in CDS | cannot be calculated, distance between start ATG and last intron/exon boundary is too small | |||||||||||||
| Length of CDS | 744 | |||||||||||||
| Coding sequence (CDS) position | 642 | |||||||||||||
| cDNA position | 848 | |||||||||||||
| gDNA position | 64136 | |||||||||||||
| Chromosomal position | 27657923 | |||||||||||||
| Speed | 0.02 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 | Chr11:27657923G>A (GRCh38) | |||||||||||||
| Gene symbol | BDNF | |||||||||||||
| Gene constraints | LOEUF: 0.23, LOF (oe): 0.05, misssense (oe): 0.58, synonymous (oe): 0.78 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000356660.9 | |||||||||||||
| Genbank transcript ID | NM_001709 (exact from MANE), NM_001143813 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.642C>T g.64136C>T | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered gDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Original cDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered cDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Wildtype AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Mutated AA sequence | MTILFLTMVI SYFGCMKAAP MKEANIRGQG GLAYPGVRTH GTLESVNGPK AGSRGLTSLA DTFEHVIEEL LDEDQKVRPN EENNKDADLY TSRVMLSSQV PLEPPLLFLL EEYKNYLDAA NMSMRVRRHS DPARRGELSV CDSISEWVTA ADKKTAVDMS GGTVTVLEKV PVSKGQLKQY FYETKCNPMG YTKEGCRGID KRHWNSQCRT TQSYVRALTM DSKKRIGWRF IRIDTSCVCT LTIKRGR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 744 / 744 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 248 / 248 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1057 / 1057 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 314 / 314 | |||||||||||||
| Last intron/exon boundary | 292 | |||||||||||||
| Theoretical NMD boundary in CDS | cannot be calculated, distance between start ATG and last intron/exon boundary is too small | |||||||||||||
| Length of CDS | 744 | |||||||||||||
| Coding sequence (CDS) position | 642 | |||||||||||||
| cDNA position | 955 | |||||||||||||
| gDNA position | 64136 | |||||||||||||
| Chromosomal position | 27657923 | |||||||||||||
| Speed | 0.01 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 | Chr11:27657923G>A (GRCh38) | |||||||||||||
| Gene symbol | BDNF | |||||||||||||
| Gene constraints | LOEUF: 0.20, LOF (oe): 0.04, misssense (oe): 0.59, synonymous (oe): 0.78 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000314915.6 | |||||||||||||
| Genbank transcript ID | NM_170731 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.666C>T g.64136C>T | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered gDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Original cDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered cDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Wildtype AA sequence | MFHQVRRVMT ILFLTMVISY FGCMKAAPMK EANIRGQGGL AYPGVRTHGT LESVNGPKAG SRGLTSLADT FEHVIEELLD EDQKVRPNEE NNKDADLYTS RVMLSSQVPL EPPLLFLLEE YKNYLDAANM SMRVRRHSDP ARRGELSVCD SISEWVTAAD KKTAVDMSGG TVTVLEKVPV SKGQLKQYFY ETKCNPMGYT KEGCRGIDKR HWNSQCRTTQ SYVRALTMDS KKRIGWRFIR IDTSCVCTLT IKRGR* | |||||||||||||
| Mutated AA sequence | MFHQVRRVMT ILFLTMVISY FGCMKAAPMK EANIRGQGGL AYPGVRTHGT LESVNGPKAG SRGLTSLADT FEHVIEELLD EDQKVRPNEE NNKDADLYTS RVMLSSQVPL EPPLLFLLEE YKNYLDAANM SMRVRRHSDP ARRGELSVCD SISEWVTAAD KKTAVDMSGG TVTVLEKVPV SKGQLKQYFY ETKCNPMGYT KEGCRGIDKR HWNSQCRTTQ SYVRALTMDS KKRIGWRFIR IDTSCVCTLT IKRGR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 768 / 768 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 256 / 256 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1412 / 1412 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 645 / 645 | |||||||||||||
| Last intron/exon boundary | 647 | |||||||||||||
| Theoretical NMD boundary in CDS | cannot be calculated, distance between start ATG and last intron/exon boundary is too small | |||||||||||||
| Length of CDS | 768 | |||||||||||||
| Coding sequence (CDS) position | 666 | |||||||||||||
| cDNA position | 1310 | |||||||||||||
| gDNA position | 64136 | |||||||||||||
| Chromosomal position | 27657923 | |||||||||||||
| Speed | 0.01 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 | Chr11:27657923G>A (GRCh38) | |||||||||||||
| Gene symbol | BDNF | |||||||||||||
| Gene constraints | LOEUF: 0.54, LOF (oe): 0.30, misssense (oe): 0.67, synonymous (oe): 0.84 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000438929.5 | |||||||||||||
| Genbank transcript ID | NM_001143810 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.888C>T g.64136C>T | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 11 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered gDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Original cDNA sequence snippet | TGCCGAACTACCCAGTCGTACGTGCGGGCCCTTACCATGGA | |||||||||||||
| Altered cDNA sequence snippet | TGCCGAACTACCCAGTCGTATGTGCGGGCCCTTACCATGGA | |||||||||||||
| Wildtype AA sequence | MCGATSFLHE CTRLILVTTQ NAEFLQKGLQ VHTCFGVYPH ASVWHDCASQ KKGCAVYLHV SVEFNKLIPE NGFIKFHQVR RVMTILFLTM VISYFGCMKA APMKEANIRG QGGLAYPGVR THGTLESVNG PKAGSRGLTS LADTFEHVIE ELLDEDQKVR PNEENNKDAD LYTSRVMLSS QVPLEPPLLF LLEEYKNYLD AANMSMRVRR HSDPARRGEL SVCDSISEWV TAADKKTAVD MSGGTVTVLE KVPVSKGQLK QYFYETKCNP MGYTKEGCRG IDKRHWNSQC RTTQSYVRAL TMDSKKRIGW RFIRIDTSCV CTLTIKRGR* | |||||||||||||
| Mutated AA sequence | MCGATSFLHE CTRLILVTTQ NAEFLQKGLQ VHTCFGVYPH ASVWHDCASQ KKGCAVYLHV SVEFNKLIPE NGFIKFHQVR RVMTILFLTM VISYFGCMKA APMKEANIRG QGGLAYPGVR THGTLESVNG PKAGSRGLTS LADTFEHVIE ELLDEDQKVR PNEENNKDAD LYTSRVMLSS QVPLEPPLLF LLEEYKNYLD AANMSMRVRR HSDPARRGEL SVCDSISEWV TAADKKTAVD MSGGTVTVLE KVPVSKGQLK QYFYETKCNP MGYTKEGCRG IDKRHWNSQC RTTQSYVRAL TMDSKKRIGW RFIRIDTSCV CTLTIKRGR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 990 / 990 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 330 / 330 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1131 / 1131 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 142 / 142 | |||||||||||||
| Last intron/exon boundary | 366 | |||||||||||||
| Theoretical NMD boundary in CDS | 174 | |||||||||||||
| Length of CDS | 990 | |||||||||||||
| Coding sequence (CDS) position | 888 | |||||||||||||
| cDNA position | 1029 | |||||||||||||
| gDNA position | 64136 | |||||||||||||
| Chromosomal position | 27657923 | |||||||||||||
| Speed | 0.02 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