| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ENG | Benign | 75|125 | without_ | No | Single base exchange | Normal |
| ||||||
ENST00000373203(MANE Select) | ENG | Benign | 81|119 | without_ | No | Single base exchange | Normal |
| |||||
| ENG | Benign | 89|111 | without_ | No | Single base exchange | Normal |
| ||||||
| ENG | Benign | 125|75 | without_ | No | Single base exchange | Normal |
| ||||||
| ENG | Benign | 125|75 | without_ | No | Single base exchange | Normal |
| ||||||
| ENG | Benign | 125|75 | without_ | No | Single base exchange | Normal |
| ||||||
| ENG | Benign | 125|75 | without_ | No | Single base exchange | Normal |
| ||||||
| ENG | Benign | 125|75 | without_ | No | Single base exchange | Normal |
| ||||||
| ENG | Benign | 125|75 | without_ | No | Single base exchange | Normal |
| ||||||
| ENG | Benign | 125|75 | without_ | No | Single base exchange | Normal |
| ||||||
| ENG | Benign | 125|75 | without_ | No | Single base exchange | Normal |
| ||||||
| ENG | Benign | 125|75 | without_ | No | Single base exchange | Normal |
| ||||||
| ENG | Benign | 125|75 | without_ | No | Single base exchange | Normal |
| ||||||
| ENG | Benign | 125|75 | without_ | No | Single base exchange | Normal |
| ||||||
| ENG | Benign | 125|75 | without_ | No | Single base exchange | Normal |
| ||||||
| ENG | Benign | 125|75 | without_ | No | Single base exchange | Normal |
| ||||||
| ENG | Benign | 125|75 | without_ | No | Single base exchange | Normal |
| ||||||
| ENG | Benign | 125|75 | without_ | No | Single base exchange | Normal |
| ||||||
| ENG | Benign | 125|75 | without_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr9:127824378G>A (GRCh38) | |||||||||||||
| Gene symbol | ENG | |||||||||||||
| Gene constraints | LOEUF: 0.39, LOF (oe): 0.26, misssense (oe): 0.87, synonymous (oe): 0.98 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000344849.5 | |||||||||||||
| Genbank transcript ID | NM_000118 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1060C>T g.30396C>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 | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered gDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Original cDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered cDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Wildtype AA sequence | MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF QLGLYLSPHF LQASNTIEPG QQSFVQVRVS PSVSEFLLQL DSCHLDLGPE GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP IPKTGTLSCT VALRPKTGSQ DQEVHRTVFM RLNIISPDLS GCTSKGLVLP AVLGITFGAF LIGALLTAAL WYIYSHTREY PRPPQ* | |||||||||||||
| Mutated AA sequence | MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF QLGLYLSPHF LQASNTIEPG QQSFVQVRVS PSVSEFLLQL DSCHLDLGPE GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP IPKTGTLSCT VALRPKTGSQ DQEVHRTVFM RLNIISPDLS GCTSKGLVLP AVLGITFGAF LIGALLTAAL WYIYSHTREY PRPPQ* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1878 / 1878 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 626 / 626 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2296 / 2296 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 419 / 419 | |||||||||||||
| Last intron/exon boundary | 2159 | |||||||||||||
| Theoretical NMD boundary in CDS | 1690 | |||||||||||||
| Length of CDS | 1878 | |||||||||||||
| Coding sequence (CDS) position | 1060 | |||||||||||||
| cDNA position | 1478 | |||||||||||||
| gDNA position | 30396 | |||||||||||||
| Chromosomal position | 127824378 | |||||||||||||
| 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 | Chr9:127824378G>A (GRCh38) | |||||||||||||
| Gene symbol | ENG | |||||||||||||
| Gene constraints | LOEUF: 0.37, LOF (oe): 0.25, misssense (oe): 0.88, synonymous (oe): 0.99 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000373203.9 | |||||||||||||
| Genbank transcript ID | NM_001114753 (exact from MANE) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1060C>T g.30396C>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 | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered gDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Original cDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered cDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Wildtype AA sequence | MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF QLGLYLSPHF LQASNTIEPG QQSFVQVRVS PSVSEFLLQL DSCHLDLGPE GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP IPKTGTLSCT VALRPKTGSQ DQEVHRTVFM RLNIISPDLS GCTSKGLVLP AVLGITFGAF LIGALLTAAL WYIYSHTRSP SKREPVVAVA APASSESSST NHSIGSTQST PCSTSSMA* | |||||||||||||
| Mutated AA sequence | MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF QLGLYLSPHF LQASNTIEPG QQSFVQVRVS PSVSEFLLQL DSCHLDLGPE GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP IPKTGTLSCT VALRPKTGSQ DQEVHRTVFM RLNIISPDLS GCTSKGLVLP AVLGITFGAF LIGALLTAAL WYIYSHTRSP SKREPVVAVA APASSESSST NHSIGSTQST PCSTSSMA* | |||||||||||||
| 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 | 2280 / 2280 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 304 / 304 | |||||||||||||
| Last intron/exon boundary | 2155 | |||||||||||||
| Theoretical NMD boundary in CDS | 1801 | |||||||||||||
| Length of CDS | 1977 | |||||||||||||
| Coding sequence (CDS) position | 1060 | |||||||||||||
| cDNA position | 1363 | |||||||||||||
| gDNA position | 30396 | |||||||||||||
| Chromosomal position | 127824378 | |||||||||||||
| 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 | Chr9:127824378G>A (GRCh38) | |||||||||||||
| Gene symbol | ENG | |||||||||||||
| Gene constraints | LOEUF: 0.42, LOF (oe): 0.26, misssense (oe): 0.88, synonymous (oe): 0.97 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000480266.7 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.514C>T g.30396C>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 | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered gDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Original cDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered cDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Wildtype AA sequence | MLEASQDMGR TLEWRPRTPA LVRGCHLEGV AGHKEAHILR VLPGHSAGPR TVTVKVELSC APGDLDAVLI LQGPPYVSWL IDANHNMQIW TTGEYSFKIF PEKNIRGFKL PDTPQGLLGE ARMLNASIVA SFVELPLASI VSLHASSCGG RLQTSPAPIQ TTPPKDTCSP ELLMSLIQTK CADDAMTLVL KKELVAHLKC TITGLTFWDP SCEAEDRGDK FVLRSAYSSC GMQVSASMIS NEAVVNILSS SSPQRKKVHC LNMDSLSFQL GLYLSPHFLQ ASNTIEPGQQ SFVQVRVSPS VSEFLLQLDS CHLDLGPEGG TVELIQGRAA KGNCVSLLSP SPEGDPRFSF LLHFYTVPIP KTGTLSCTVA LRPKTGSQDQ EVHRTVFMRL NIISPDLSGC TSKGLVLPAV LGITFGAFLI GALLTAALWY IYSHTRSPSK REPVVAVAAP ASSESSSTNH SIGSTQSTPC STSSMA* | |||||||||||||
| Mutated AA sequence | MLEASQDMGR TLEWRPRTPA LVRGCHLEGV AGHKEAHILR VLPGHSAGPR TVTVKVELSC APGDLDAVLI LQGPPYVSWL IDANHNMQIW TTGEYSFKIF PEKNIRGFKL PDTPQGLLGE ARMLNASIVA SFVELPLASI VSLHASSCGG RLQTSPAPIQ TTPPKDTCSP ELLMSLIQTK CADDAMTLVL KKELVAHLKC TITGLTFWDP SCEAEDRGDK FVLRSAYSSC GMQVSASMIS NEAVVNILSS SSPQRKKVHC LNMDSLSFQL GLYLSPHFLQ ASNTIEPGQQ SFVQVRVSPS VSEFLLQLDS CHLDLGPEGG TVELIQGRAA KGNCVSLLSP SPEGDPRFSF LLHFYTVPIP KTGTLSCTVA LRPKTGSQDQ EVHRTVFMRL NIISPDLSGC TSKGLVLPAV LGITFGAFLI GALLTAALWY IYSHTRSPSK REPVVAVAAP ASSESSSTNH SIGSTQSTPC STSSMA* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1431 / 1431 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 477 / 477 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2139 / 2139 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 709 / 709 | |||||||||||||
| Last intron/exon boundary | 2014 | |||||||||||||
| Theoretical NMD boundary in CDS | 1255 | |||||||||||||
| Length of CDS | 1431 | |||||||||||||
| Coding sequence (CDS) position | 514 | |||||||||||||
| cDNA position | 1222 | |||||||||||||
| gDNA position | 30396 | |||||||||||||
| Chromosomal position | 127824378 | |||||||||||||
| 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 | Chr9:127824378G>A (GRCh38) | |||||||||||||
| Gene symbol | ENG | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000714076.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1060C>T g.30396C>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 | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered gDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Original cDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered cDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Wildtype AA sequence | MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF QLGLYLSPHF LQASNTIEPG QQSFVQVRVS PSVSEFLLQL DSCHLDLGPE GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP IPKTGTLSCT VALRPKTGSQ DQEVHRTVFM RLNIISPDLS ETGFHHVSQD GLNLLTS* | |||||||||||||
| Mutated AA sequence | MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF QLGLYLSPHF LQASNTIEPG QQSFVQVRVS PSVSEFLLQL DSCHLDLGPE GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP IPKTGTLSCT VALRPKTGSQ DQEVHRTVFM RLNIISPDLS ETGFHHVSQD GLNLLTS* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1794 / 1794 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 598 / 598 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2097 / 2097 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 304 / 304 | |||||||||||||
| Last intron/exon boundary | 2044 | |||||||||||||
| Theoretical NMD boundary in CDS | 1690 | |||||||||||||
| Length of CDS | 1794 | |||||||||||||
| Coding sequence (CDS) position | 1060 | |||||||||||||
| cDNA position | 1363 | |||||||||||||
| gDNA position | 30396 | |||||||||||||
| Chromosomal position | 127824378 | |||||||||||||
| 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 | Chr9:127824378G>A (GRCh38) | |||||||||||||
| Gene symbol | ENG | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000714077.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1060C>T g.30396C>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 | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered gDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Original cDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered cDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Wildtype AA sequence | MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF QLGLYLSPHF LQASNTIEPG QQSFVQVRVS PSVSEFLLQL DSCHLDLGPE GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP IPKTGTLSCT VALRPKTGSQ DQEVHRTVFM RLNIISPDLS GCTSKGLVLP AVLGITFGAF LIGALLTAAL WYIYSHTQTG FHHVSQDGLN LLTS* | |||||||||||||
| Mutated AA sequence | MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF QLGLYLSPHF LQASNTIEPG QQSFVQVRVS PSVSEFLLQL DSCHLDLGPE GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP IPKTGTLSCT VALRPKTGSQ DQEVHRTVFM RLNIISPDLS GCTSKGLVLP AVLGITFGAF LIGALLTAAL WYIYSHTQTG FHHVSQDGLN LLTS* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1905 / 1905 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 635 / 635 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2208 / 2208 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 304 / 304 | |||||||||||||
| Last intron/exon boundary | 2155 | |||||||||||||
| Theoretical NMD boundary in CDS | 1801 | |||||||||||||
| Length of CDS | 1905 | |||||||||||||
| Coding sequence (CDS) position | 1060 | |||||||||||||
| cDNA position | 1363 | |||||||||||||
| gDNA position | 30396 | |||||||||||||
| Chromosomal position | 127824378 | |||||||||||||
| 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 | Chr9:127824378G>A (GRCh38) | |||||||||||||
| Gene symbol | ENG | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000713995.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.256C>T g.30396C>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 | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered gDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Original cDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered cDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Wildtype AA sequence | MQIWTTGEYS FKIFPEKNIR GFKLPDTPQG LLGEARMLNA SIVASFVELP LASIVSLHAS SCGGRLQTSP APIQTTPPKD TCSPELLMSL IQTKCADDAM TLVLKKELVA HLKCTITGLT FWDPSCEAED RGDKFVLRSA YSSCGMQVSA SMISNEAVVN ILSSSSPQRK KVHCLNMDSL SFQLGLYLSP HFLQASNTIE PGQQSFVQVR VSPSVSEFLL QLDSCHLDLG PEGGTVELIQ GRAAKGNCVS LLSPSPEGDP RFSFLLHFYT VPIPKTGTLS CTVALRPKTG SQDQEVHRTV FMRLNIISPD LSGCTSKGLV LPAVLGITFG AFLIGALLTA ALWYIYSHTR SPSKREPVVA VAAPASSESS STNHSIGSTQ STPCSTSSMA * | |||||||||||||
| Mutated AA sequence | MQIWTTGEYS FKIFPEKNIR GFKLPDTPQG LLGEARMLNA SIVASFVELP LASIVSLHAS SCGGRLQTSP APIQTTPPKD TCSPELLMSL IQTKCADDAM TLVLKKELVA HLKCTITGLT FWDPSCEAED RGDKFVLRSA YSSCGMQVSA SMISNEAVVN ILSSSSPQRK KVHCLNMDSL SFQLGLYLSP HFLQASNTIE PGQQSFVQVR VSPSVSEFLL QLDSCHLDLG PEGGTVELIQ GRAAKGNCVS LLSPSPEGDP RFSFLLHFYT VPIPKTGTLS CTVALRPKTG SQDQEVHRTV FMRLNIISPD LSGCTSKGLV LPAVLGITFG AFLIGALLTA ALWYIYSHTR SPSKREPVVA VAAPASSESS STNHSIGSTQ STPCSTSSMA * | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1173 / 1173 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 391 / 391 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1432 / 1432 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 260 / 260 | |||||||||||||
| Last intron/exon boundary | 1307 | |||||||||||||
| Theoretical NMD boundary in CDS | 997 | |||||||||||||
| Length of CDS | 1173 | |||||||||||||
| Coding sequence (CDS) position | 256 | |||||||||||||
| cDNA position | 515 | |||||||||||||
| gDNA position | 30396 | |||||||||||||
| Chromosomal position | 127824378 | |||||||||||||
| 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 | Chr9:127824378G>A (GRCh38) | |||||||||||||
| Gene symbol | ENG | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000713957.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.709C>T g.30396C>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 | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered gDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Original cDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered cDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Wildtype AA sequence | MGKNSSLVTF QEPPGVNTTE LPSFPKTQIL EWAAERGPIT SAAELNDPQS ILLRLGQAQG SLSFCMLEAS QDMGRTLEWR PRTPALVRGC HLEGVAGHKE AHILRVLPGH SAGPRTVTVK VELSCAPGDL DAVLILQGPP YVSWLIDANH NMQIWTTGEY SFKIFPEKNI RGFKLPDTPQ GLLGEARMLN ASIVASFVEL PLASIVSLHA SSCGGRLQTS PAPIQTTPPK DTCSPELLMS LIQTKCADDA MTLVLKKELV AHLKCTITGL TFWDPSCEAE DRGDKFVLRS AYSSCGMQVS ASMISNEAVV NILSSSSPQR KKVHCLNMDS LSFQLGLYLS PHFLQASNTI EPGQQSFVQV RVSPSVSEFL LQLDSCHLDL GPEGGTVELI QGRAAKGNCV SLLSPSPEGD PRFSFLLHFY TVPIPKTGTL SCTVALRPKT GSQDQEVHRT VFMRLNIISP DLSGCTSKGL VLPAVLGITF GAFLIGALLT AALWYIYSHT RSPSKREPVV AVAAPASSES SSTNHSIGST QSTPCSTSSM A* | |||||||||||||
| Mutated AA sequence | MGKNSSLVTF QEPPGVNTTE LPSFPKTQIL EWAAERGPIT SAAELNDPQS ILLRLGQAQG SLSFCMLEAS QDMGRTLEWR PRTPALVRGC HLEGVAGHKE AHILRVLPGH SAGPRTVTVK VELSCAPGDL DAVLILQGPP YVSWLIDANH NMQIWTTGEY SFKIFPEKNI RGFKLPDTPQ GLLGEARMLN ASIVASFVEL PLASIVSLHA SSCGGRLQTS PAPIQTTPPK DTCSPELLMS LIQTKCADDA MTLVLKKELV AHLKCTITGL TFWDPSCEAE DRGDKFVLRS AYSSCGMQVS ASMISNEAVV NILSSSSPQR KKVHCLNMDS LSFQLGLYLS PHFLQASNTI EPGQQSFVQV RVSPSVSEFL LQLDSCHLDL GPEGGTVELI QGRAAKGNCV SLLSPSPEGD PRFSFLLHFY TVPIPKTGTL SCTVALRPKT GSQDQEVHRT VFMRLNIISP DLSGCTSKGL VLPAVLGITF GAFLIGALLT AALWYIYSHT RSPSKREPVV AVAAPASSES SSTNHSIGST QSTPCSTSSM A* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1626 / 1626 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 542 / 542 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2258 / 2258 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 633 / 633 | |||||||||||||
| Last intron/exon boundary | 2133 | |||||||||||||
| Theoretical NMD boundary in CDS | 1450 | |||||||||||||
| Length of CDS | 1626 | |||||||||||||
| Coding sequence (CDS) position | 709 | |||||||||||||
| cDNA position | 1341 | |||||||||||||
| gDNA position | 30396 | |||||||||||||
| Chromosomal position | 127824378 | |||||||||||||
| 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 | Chr9:127824378G>A (GRCh38) | |||||||||||||
| Gene symbol | ENG | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000713997.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1060C>T g.30396C>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 | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered gDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Original cDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered cDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Wildtype AA sequence | MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF QLGLYLSPHF LQASNTIEPG QQSFVQVRVS PSVSEFLLQL DSCHLDLGPE GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP IPKTGTLSCT VALRPKTGSQ DQEVHRTVFM RLNIISPDLS GCTSKGLVLP AVLGITFGAF LIGALLTAAL WYIYSHTPSG SPWWRWLPRP PRRAAAPTTA SGAPRAPPAP PAAWHSPGPP RSPSRRD* | |||||||||||||
| Mutated AA sequence | MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF QLGLYLSPHF LQASNTIEPG QQSFVQVRVS PSVSEFLLQL DSCHLDLGPE GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP IPKTGTLSCT VALRPKTGSQ DQEVHRTVFM RLNIISPDLS GCTSKGLVLP AVLGITFGAF LIGALLTAAL WYIYSHTPSG SPWWRWLPRP PRRAAAPTTA SGAPRAPPAP PAAWHSPGPP RSPSRRD* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2004 / 2004 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 668 / 668 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2307 / 2307 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 304 / 304 | |||||||||||||
| Last intron/exon boundary | 2155 | |||||||||||||
| Theoretical NMD boundary in CDS | 1801 | |||||||||||||
| Length of CDS | 2004 | |||||||||||||
| Coding sequence (CDS) position | 1060 | |||||||||||||
| cDNA position | 1363 | |||||||||||||
| gDNA position | 30396 | |||||||||||||
| Chromosomal position | 127824378 | |||||||||||||
| 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 | Chr9:127824378G>A (GRCh38) | |||||||||||||
| Gene symbol | ENG | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000714102.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1060C>T g.30396C>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 | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered gDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Original cDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered cDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Wildtype AA sequence | MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM ISNEAVVNIL SSSSPQRVRV SPSVSEFLLQ LDSCHLDLGP EGGTVELIQG RAAKGNCVSL LSPSPEGDPR FSFLLHFYTV PIPKTGTLSC TVALRPKTGS QDQEVHRTVF MRLNIISPDL SGCTSKGLVL PAVLGITFGA FLIGALLTAA LWYIYSHTRS PSKREPVVAV AAPASSESSS TNHSIGSTQS TPCSTSSMA* | |||||||||||||
| Mutated AA sequence | MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM ISNEAVVNIL SSSSPQRVRV SPSVSEFLLQ LDSCHLDLGP EGGTVELIQG RAAKGNCVSL LSPSPEGDPR FSFLLHFYTV PIPKTGTLSC TVALRPKTGS QDQEVHRTVF MRLNIISPDL SGCTSKGLVL PAVLGITFGA FLIGALLTAA LWYIYSHTRS PSKREPVVAV AAPASSESSS TNHSIGSTQS TPCSTSSMA* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1860 / 1860 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 620 / 620 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2163 / 2163 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 304 / 304 | |||||||||||||
| Last intron/exon boundary | 2038 | |||||||||||||
| Theoretical NMD boundary in CDS | 1684 | |||||||||||||
| Length of CDS | 1860 | |||||||||||||
| Coding sequence (CDS) position | 1060 | |||||||||||||
| cDNA position | 1363 | |||||||||||||
| gDNA position | 30396 | |||||||||||||
| Chromosomal position | 127824378 | |||||||||||||
| 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 | Chr9:127824378G>A (GRCh38) | |||||||||||||
| Gene symbol | ENG | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000714127.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.256C>T g.30396C>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 | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered gDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Original cDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered cDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Wildtype AA sequence | MQIWTTGEYS FKIFPEKNIR GFKLPDTPQG LLGEARMLNA SIVASFVELP LASIVSLHAS SCGGRLQTSP APIQTTPPKD TCSPELLMSL IQTKCADDAM TLVLKKELVA HLKCTITGLT FWDPSCEAED RGDKFVLRSA YSSCGMQVSA SMISNEAVVN ILSSSSPQRK KVHCLNMDSL SFQLGLYLSP HFLQASNTIE PGQQSFVQVR VSPSVSEFLL QLDSCHLDLG PEGGTVELIQ GRAAKGNCVS LLSPSPEGDP RFSFLLHFYT VPIPKTGTLS CTVALRPKTG SQDQEVHRTV FMRLNIISPD LSGCTSKGLV LPAVLGITFG AFLIGALLTA ALWYIYSHTR EYPRPPQ* | |||||||||||||
| Mutated AA sequence | MQIWTTGEYS FKIFPEKNIR GFKLPDTPQG LLGEARMLNA SIVASFVELP LASIVSLHAS SCGGRLQTSP APIQTTPPKD TCSPELLMSL IQTKCADDAM TLVLKKELVA HLKCTITGLT FWDPSCEAED RGDKFVLRSA YSSCGMQVSA SMISNEAVVN ILSSSSPQRK KVHCLNMDSL SFQLGLYLSP HFLQASNTIE PGQQSFVQVR VSPSVSEFLL QLDSCHLDLG PEGGTVELIQ GRAAKGNCVS LLSPSPEGDP RFSFLLHFYT VPIPKTGTLS CTVALRPKTG SQDQEVHRTV FMRLNIISPD LSGCTSKGLV LPAVLGITFG AFLIGALLTA ALWYIYSHTR EYPRPPQ* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1074 / 1074 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 358 / 358 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1315 / 1315 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 242 / 242 | |||||||||||||
| Last intron/exon boundary | 1178 | |||||||||||||
| Theoretical NMD boundary in CDS | 886 | |||||||||||||
| Length of CDS | 1074 | |||||||||||||
| Coding sequence (CDS) position | 256 | |||||||||||||
| cDNA position | 497 | |||||||||||||
| gDNA position | 30396 | |||||||||||||
| Chromosomal position | 127824378 | |||||||||||||
| 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 | Chr9:127824378G>A (GRCh38) | |||||||||||||
| Gene symbol | ENG | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000714046.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1060C>T g.30396C>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 | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered gDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Original cDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered cDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Wildtype AA sequence | MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ TKCADDAMTL HLKCTITGLT FWDPSCEAED RGDKFVLRSA YSSCGMQVSA SMISNEAVVN ILSSSSPQRK KVHCLNMDSL SFQLGLYLSP HFLQASNTIE PGQQSFVQVR VSPSVSEFLL QLDSCHLDLG PEGGTVELIQ GRAAKGNCVS LLSPSPEGDP RFSFLLHFYT VPIPKTGTLS CTVALRPKTG SQDQEVHRTV FMRLNIISPD LSGCTSKGLV LPAVLGITFG AFLIGALLTA ALWYIYSHTR SPSKREPVVA VAAPASSESS STNHSIGSTQ STPCSTSSMA * | |||||||||||||
| Mutated AA sequence | MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ TKCADDAMTL HLKCTITGLT FWDPSCEAED RGDKFVLRSA YSSCGMQVSA SMISNEAVVN ILSSSSPQRK KVHCLNMDSL SFQLGLYLSP HFLQASNTIE PGQQSFVQVR VSPSVSEFLL QLDSCHLDLG PEGGTVELIQ GRAAKGNCVS LLSPSPEGDP RFSFLLHFYT VPIPKTGTLS CTVALRPKTG SQDQEVHRTV FMRLNIISPD LSGCTSKGLV LPAVLGITFG AFLIGALLTA ALWYIYSHTR SPSKREPVVA VAAPASSESS STNHSIGSTQ STPCSTSSMA * | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1953 / 1953 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 651 / 651 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1998 / 1998 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 46 / 46 | |||||||||||||
| Last intron/exon boundary | 1873 | |||||||||||||
| Theoretical NMD boundary in CDS | 1777 | |||||||||||||
| Length of CDS | 1953 | |||||||||||||
| Coding sequence (CDS) position | 1060 | |||||||||||||
| cDNA position | 1105 | |||||||||||||
| gDNA position | 30396 | |||||||||||||
| Chromosomal position | 127824378 | |||||||||||||
| 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 | Chr9:127824378G>A (GRCh38) | |||||||||||||
| Gene symbol | ENG | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000714084.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1060C>T g.30396C>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 | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered gDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Original cDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered cDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Wildtype AA sequence | MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF QLGLYLSPHF LQASNTIEPG QQSFVQVRVS PSVSEFLLQL DSCHLDLGPE GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP IPKTGTLSCT VALRPKTGSQ DQEVHRTVFM RLNIISPDLS GCTSKGLVLP AVLGITFGAF LIGALLTAAL WYIYSHTPWH SPGPPRSPSR RD* | |||||||||||||
| Mutated AA sequence | MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF QLGLYLSPHF LQASNTIEPG QQSFVQVRVS PSVSEFLLQL DSCHLDLGPE GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP IPKTGTLSCT VALRPKTGSQ DQEVHRTVFM RLNIISPDLS GCTSKGLVLP AVLGITFGAF LIGALLTAAL WYIYSHTPWH SPGPPRSPSR RD* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1899 / 1899 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 633 / 633 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2202 / 2202 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 304 / 304 | |||||||||||||
| Last intron/exon boundary | 2155 | |||||||||||||
| Theoretical NMD boundary in CDS | 1801 | |||||||||||||
| Length of CDS | 1899 | |||||||||||||
| Coding sequence (CDS) position | 1060 | |||||||||||||
| cDNA position | 1363 | |||||||||||||
| gDNA position | 30396 | |||||||||||||
| Chromosomal position | 127824378 | |||||||||||||
| 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 | Chr9:127824378G>A (GRCh38) | |||||||||||||
| Gene symbol | ENG | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000714047.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1060C>T g.30396C>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 | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered gDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Original cDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered cDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Wildtype AA sequence | MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF QLGLYLSPHF LQASNTIEPG QQSFVQVRVS PSVSEFLLQL DSCHLDLGPE GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP IPKTGTLSCT VALRPKTGSQ DQEVHRTVFM RLNIISPDLS GCTSKGLVLP AVLGITFGAF LIGALLTAAL WYIYSHTRET EQPPAGSTGV NSPWEPVLHS TQNGACSPRL PFPPPSQRPA ASAATGLEHL GVPPPHRTFN PVGLGYGCPG DRPLATLL* | |||||||||||||
| Mutated AA sequence | MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF QLGLYLSPHF LQASNTIEPG QQSFVQVRVS PSVSEFLLQL DSCHLDLGPE GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP IPKTGTLSCT VALRPKTGSQ DQEVHRTVFM RLNIISPDLS GCTSKGLVLP AVLGITFGAF LIGALLTAAL WYIYSHTRET EQPPAGSTGV NSPWEPVLHS TQNGACSPRL PFPPPSQRPA ASAATGLEHL GVPPPHRTFN PVGLGYGCPG DRPLATLL* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2097 / 2097 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 699 / 699 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2400 / 2400 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 304 / 304 | |||||||||||||
| Last intron/exon boundary | 2155 | |||||||||||||
| Theoretical NMD boundary in CDS | 1801 | |||||||||||||
| Length of CDS | 2097 | |||||||||||||
| Coding sequence (CDS) position | 1060 | |||||||||||||
| cDNA position | 1363 | |||||||||||||
| gDNA position | 30396 | |||||||||||||
| Chromosomal position | 127824378 | |||||||||||||
| 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 | Chr9:127824378G>A (GRCh38) | |||||||||||||
| Gene symbol | ENG | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000714126.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.256C>T g.30396C>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 | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered gDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Original cDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered cDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Wildtype AA sequence | MQIWTTGEYS FKIFPEKNIR GFKLPDTPQG LLGEARMLNA SIVASFVELP LASIVSLHAS SCGGRLQTSP APIQTTPPKD TCSPELLMSL IQTKCADDAM TLVLKKELVA HLKCTITGLT FWDPSCEAED RGDKFVLRSA YSSCGMQVSA SMISNEAVVN ILSSSSPQRK KVHCLNMDSL SFQLGLYLSP HFLQASNTIE PGQQSFVQVR VSPSVSEFLL QLDSCHLDLG PEGGTVELIQ GRAAKGNCVS LLSPSPEGDP RFSFLLHFYT VPIPKTGTLS CTVALRPKTG SQDQEVHRTV FMRLNIISPD LSGCTSKGLV LPAVLGITFG AFLIGALLTA ALWYIYSHTR EYPRPPQ* | |||||||||||||
| Mutated AA sequence | MQIWTTGEYS FKIFPEKNIR GFKLPDTPQG LLGEARMLNA SIVASFVELP LASIVSLHAS SCGGRLQTSP APIQTTPPKD TCSPELLMSL IQTKCADDAM TLVLKKELVA HLKCTITGLT FWDPSCEAED RGDKFVLRSA YSSCGMQVSA SMISNEAVVN ILSSSSPQRK KVHCLNMDSL SFQLGLYLSP HFLQASNTIE PGQQSFVQVR VSPSVSEFLL QLDSCHLDLG PEGGTVELIQ GRAAKGNCVS LLSPSPEGDP RFSFLLHFYT VPIPKTGTLS CTVALRPKTG SQDQEVHRTV FMRLNIISPD LSGCTSKGLV LPAVLGITFG AFLIGALLTA ALWYIYSHTR EYPRPPQ* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1074 / 1074 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 358 / 358 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1278 / 1278 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 205 / 205 | |||||||||||||
| Last intron/exon boundary | 1141 | |||||||||||||
| Theoretical NMD boundary in CDS | 886 | |||||||||||||
| Length of CDS | 1074 | |||||||||||||
| Coding sequence (CDS) position | 256 | |||||||||||||
| cDNA position | 460 | |||||||||||||
| gDNA position | 30396 | |||||||||||||
| Chromosomal position | 127824378 | |||||||||||||
| 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 | Chr9:127824378G>A (GRCh38) | |||||||||||||
| Gene symbol | ENG | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000714082.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1060C>T g.30396C>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 | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered gDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Original cDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered cDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Wildtype AA sequence | MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF QLGLYLSPHF LQASNTIEPG QQSFVQVRVS PSVSEFLLQL DSCHLDLGPE GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP IPKTGTLSCT VALRPKTGSQ DQEVHRTVFM RLNIISPDLS GELPPGCTSK GLVLPAVLGI TFGAFLIGAL LTAALWYIYS HTRSPSKREP VVAVAAPASS ESSSTNHSIG STQSTPCSTS SMA* | |||||||||||||
| Mutated AA sequence | MDRGTLPLAV ALLLASCSLS PTSLAETVHC DLQPVGPERG EVTYTTSQVS KGCVAQAPNA ILEVHVLFLE FPTGPSQLEL TLQASKQNGT WPREVLLVLS VNSSVFLHLQ ALGIPLHLAY NSSLVTFQEP PGVNTTELPS FPKTQILEWA AERGPITSAA ELNDPQSILL RLGQAQGSLS FCMLEASQDM GRTLEWRPRT PALVRGCHLE GVAGHKEAHI LRVLPGHSAG PRTVTVKVEL SCAPGDLDAV LILQGPPYVS WLIDANHNMQ IWTTGEYSFK IFPEKNIRGF KLPDTPQGLL GEARMLNASI VASFVELPLA SIVSLHASSC GGRLQTSPAP IQTTPPKDTC SPELLMSLIQ TKCADDAMTL VLKKELVAHL KCTITGLTFW DPSCEAEDRG DKFVLRSAYS SCGMQVSASM ISNEAVVNIL SSSSPQRKKV HCLNMDSLSF QLGLYLSPHF LQASNTIEPG QQSFVQVRVS PSVSEFLLQL DSCHLDLGPE GGTVELIQGR AAKGNCVSLL SPSPEGDPRF SFLLHFYTVP IPKTGTLSCT VALRPKTGSQ DQEVHRTVFM RLNIISPDLS GELPPGCTSK GLVLPAVLGI TFGAFLIGAL LTAALWYIYS HTRSPSKREP VVAVAAPASS ESSSTNHSIG STQSTPCSTS SMA* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1992 / 1992 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 664 / 664 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2338 / 2338 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 347 / 347 | |||||||||||||
| Last intron/exon boundary | 2213 | |||||||||||||
| Theoretical NMD boundary in CDS | 1816 | |||||||||||||
| Length of CDS | 1992 | |||||||||||||
| Coding sequence (CDS) position | 1060 | |||||||||||||
| cDNA position | 1406 | |||||||||||||
| gDNA position | 30396 | |||||||||||||
| Chromosomal position | 127824378 | |||||||||||||
| 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 | Chr9:127824378G>A (GRCh38) | |||||||||||||
| Gene symbol | ENG | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000713956.1 | |||||||||||||
| Genbank transcript ID | NM_001278138 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.514C>T g.30396C>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 | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered gDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Original cDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered cDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Wildtype AA sequence | MLEASQDMGR TLEWRPRTPA LVRGCHLEGV AGHKEAHILR VLPGHSAGPR TVTVKVELSC APGDLDAVLI LQGPPYVSWL IDANHNMQIW TTGEYSFKIF PEKNIRGFKL PDTPQGLLGE ARMLNASIVA SFVELPLASI VSLHASSCGG RLQTSPAPIQ TTPPKDTCSP ELLMSLIQTK CADDAMTLVL KKELVAHLKC TITGLTFWDP SCEAEDRGDK FVLRSAYSSC GMQVSASMIS NEAVVNILSS SSPQRKKVHC LNMDSLSFQL GLYLSPHFLQ ASNTIEPGQQ SFVQVRVSPS VSEFLLQLDS CHLDLGPEGG TVELIQGRAA KGNCVSLLSP SPEGDPRFSF LLHFYTVPIP KTGTLSCTVA LRPKTGSQDQ EVHRTVFMRL NIISPDLSGC TSKGLVLPAV LGITFGAFLI GALLTAALWY IYSHTRSPSK REPVVAVAAP ASSESSSTNH SIGSTQSTPC STSSMA* | |||||||||||||
| Mutated AA sequence | MLEASQDMGR TLEWRPRTPA LVRGCHLEGV AGHKEAHILR VLPGHSAGPR TVTVKVELSC APGDLDAVLI LQGPPYVSWL IDANHNMQIW TTGEYSFKIF PEKNIRGFKL PDTPQGLLGE ARMLNASIVA SFVELPLASI VSLHASSCGG RLQTSPAPIQ TTPPKDTCSP ELLMSLIQTK CADDAMTLVL KKELVAHLKC TITGLTFWDP SCEAEDRGDK FVLRSAYSSC GMQVSASMIS NEAVVNILSS SSPQRKKVHC LNMDSLSFQL GLYLSPHFLQ ASNTIEPGQQ SFVQVRVSPS VSEFLLQLDS CHLDLGPEGG TVELIQGRAA KGNCVSLLSP SPEGDPRFSF LLHFYTVPIP KTGTLSCTVA LRPKTGSQDQ EVHRTVFMRL NIISPDLSGC TSKGLVLPAV LGITFGAFLI GALLTAALWY IYSHTRSPSK REPVVAVAAP ASSESSSTNH SIGSTQSTPC STSSMA* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1431 / 1431 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 477 / 477 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2113 / 2113 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 683 / 683 | |||||||||||||
| Last intron/exon boundary | 1988 | |||||||||||||
| Theoretical NMD boundary in CDS | 1255 | |||||||||||||
| Length of CDS | 1431 | |||||||||||||
| Coding sequence (CDS) position | 514 | |||||||||||||
| cDNA position | 1196 | |||||||||||||
| gDNA position | 30396 | |||||||||||||
| Chromosomal position | 127824378 | |||||||||||||
| 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 | Chr9:127824378G>A (GRCh38) | |||||||||||||
| Gene symbol | ENG | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000714080.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.256C>T g.30396C>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 | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered gDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Original cDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered cDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Wildtype AA sequence | MQIWTTGEYS FKIFPEKNIR GFKLPDTPQG LLGEARMLNA SIVASFVELP LASIVSLHAS SCGGRLQTSP APIQTTPPKD TCSPELLMSL IQTKCADDAM TLVLKKELVA HLKCTITGLT FWDPSCEAED RGDKFVLRSA YSSCGMQVSA SMISNEAVVN ILSSSSPQRK KVHCLNMDSL SFQLGLYLSP HFLQASNTIE PGQQSFVQEV HRTVFMRLNI ISPDLSGCTS KGLVLPAVLG ITFGAFLIGA LLTAALWYIY SHTRSPSKRE PVVAVAAPAS SESSSTNHSI GSTQSTPCST SSMA* | |||||||||||||
| Mutated AA sequence | MQIWTTGEYS FKIFPEKNIR GFKLPDTPQG LLGEARMLNA SIVASFVELP LASIVSLHAS SCGGRLQTSP APIQTTPPKD TCSPELLMSL IQTKCADDAM TLVLKKELVA HLKCTITGLT FWDPSCEAED RGDKFVLRSA YSSCGMQVSA SMISNEAVVN ILSSSSPQRK KVHCLNMDSL SFQLGLYLSP HFLQASNTIE PGQQSFVQEV HRTVFMRLNI ISPDLSGCTS KGLVLPAVLG ITFGAFLIGA LLTAALWYIY SHTRSPSKRE PVVAVAAPAS SESSSTNHSI GSTQSTPCST SSMA* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 915 / 915 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 305 / 305 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1166 / 1166 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 252 / 252 | |||||||||||||
| Last intron/exon boundary | 1041 | |||||||||||||
| Theoretical NMD boundary in CDS | 739 | |||||||||||||
| Length of CDS | 915 | |||||||||||||
| Coding sequence (CDS) position | 256 | |||||||||||||
| cDNA position | 507 | |||||||||||||
| gDNA position | 30396 | |||||||||||||
| Chromosomal position | 127824378 | |||||||||||||
| 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 | Chr9:127824378G>A (GRCh38) | |||||||||||||
| Gene symbol | ENG | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000714079.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.256C>T g.30396C>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 | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered gDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Original cDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered cDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Wildtype AA sequence | MQIWTTGEYS FKIFPEKNIR GFKLPDTPQG LLGEARMLNA SIVASFVELP LASIVSLHAS SCGGRLQTSP APIQTTPPKD TCSPELLMSL IQTKCADDAM TLVLKKELVA HLKCTITGLT FWDPSCEAED RGDKFVLRSA YSSCGMQVSA SMISNEAVVN ILSSSSPQRK KVHCLNMDSL SFQLGLYLSP HFLQASNTIE PGQQSFVQVR VSPSVSEFLL QLDSCHLDLG PEGGTVELIQ GRAAKGNCVS LLSPSPEGDP RFSFLLHFYT VPIPKTGTLS CTVALRPKTG SQDQEVHRTV FMRLNIISPD LSGCTSKGLV LPAVLGITFG AFLIGALLTA ALWYIYSHTR SPSKREPVVA VAAPASSESS STNHSIGSTQ STPCSTSSMA * | |||||||||||||
| Mutated AA sequence | MQIWTTGEYS FKIFPEKNIR GFKLPDTPQG LLGEARMLNA SIVASFVELP LASIVSLHAS SCGGRLQTSP APIQTTPPKD TCSPELLMSL IQTKCADDAM TLVLKKELVA HLKCTITGLT FWDPSCEAED RGDKFVLRSA YSSCGMQVSA SMISNEAVVN ILSSSSPQRK KVHCLNMDSL SFQLGLYLSP HFLQASNTIE PGQQSFVQVR VSPSVSEFLL QLDSCHLDLG PEGGTVELIQ GRAAKGNCVS LLSPSPEGDP RFSFLLHFYT VPIPKTGTLS CTVALRPKTG SQDQEVHRTV FMRLNIISPD LSGCTSKGLV LPAVLGITFG AFLIGALLTA ALWYIYSHTR SPSKREPVVA VAAPASSESS STNHSIGSTQ STPCSTSSMA * | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1173 / 1173 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 391 / 391 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1380 / 1380 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 208 / 208 | |||||||||||||
| Last intron/exon boundary | 1255 | |||||||||||||
| Theoretical NMD boundary in CDS | 997 | |||||||||||||
| Length of CDS | 1173 | |||||||||||||
| Coding sequence (CDS) position | 256 | |||||||||||||
| cDNA position | 463 | |||||||||||||
| gDNA position | 30396 | |||||||||||||
| Chromosomal position | 127824378 | |||||||||||||
| 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 | Chr9:127824378G>A (GRCh38) | |||||||||||||
| Gene symbol | ENG | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000714078.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.256C>T g.30396C>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 | 9 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered gDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Original cDNA sequence snippet | AGGACACTTGTAGCCCGGAGCTGCTCATGTCCTTGATCCAG | |||||||||||||
| Altered cDNA sequence snippet | AGGACACTTGTAGCCCGGAGTTGCTCATGTCCTTGATCCAG | |||||||||||||
| Wildtype AA sequence | MQIWTTGEYS FKIFPEKNIR GFKLPDTPQG LLGEARMLNA SIVASFVELP LASIVSLHAS SCGGRLQTSP APIQTTPPKD TCSPELLMSL IQTKCADDAM TLVLKKELVA HLKCTITGLT FWDPSCEAED RGDKFVLRSA YSSCGMQVSA SMISNEAVVN ILSSSSPQRK KVHCLNMDSL SFQLGLYLSP HFLQASNTIE PGQQSFVQVR VSPSVSEFLL QLDSCHLDLG PEGGTVELIQ GRAAKGNCVS LLSPSPEGDP RFSFLLHFYT VPIPKTGTLS CTVALRPKTG SQDQEVHRTV FMRLNIISPD LSGELPPGCT SKGLVLPAVL GITFGAFLIG ALLTAALWYI YSHTRSPSKR EPVVAVAAPA SSESSSTNHS IGSTQSTPCS TSSMA* | |||||||||||||
| Mutated AA sequence | MQIWTTGEYS FKIFPEKNIR GFKLPDTPQG LLGEARMLNA SIVASFVELP LASIVSLHAS SCGGRLQTSP APIQTTPPKD TCSPELLMSL IQTKCADDAM TLVLKKELVA HLKCTITGLT FWDPSCEAED RGDKFVLRSA YSSCGMQVSA SMISNEAVVN ILSSSSPQRK KVHCLNMDSL SFQLGLYLSP HFLQASNTIE PGQQSFVQVR VSPSVSEFLL QLDSCHLDLG PEGGTVELIQ GRAAKGNCVS LLSPSPEGDP RFSFLLHFYT VPIPKTGTLS CTVALRPKTG SQDQEVHRTV FMRLNIISPD LSGELPPGCT SKGLVLPAVL GITFGAFLIG ALLTAALWYI YSHTRSPSKR EPVVAVAAPA SSESSSTNHS IGSTQSTPCS TSSMA* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1188 / 1188 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 396 / 396 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1432 / 1432 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 245 / 245 | |||||||||||||
| Last intron/exon boundary | 1307 | |||||||||||||
| Theoretical NMD boundary in CDS | 1012 | |||||||||||||
| Length of CDS | 1188 | |||||||||||||
| Coding sequence (CDS) position | 256 | |||||||||||||
| cDNA position | 500 | |||||||||||||
| gDNA position | 30396 | |||||||||||||
| Chromosomal position | 127824378 | |||||||||||||
| 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