| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACVRL1 | Deleterious | 61|39 | simple_ | No | Single base exchange | Normal |
| ||||||
ENST00000388922(MANE Select) | ACVRL1 | Deleterious | 61|39 | simple_ | No | Single base exchange | Normal |
| |||||
| ACVRL1 | Deleterious | 72|28 | simple_ | No | Single base exchange | Normal |
| ||||||
| ACVRL1 | Deleterious | 75|25 | simple_ | No | Single base exchange | Normal |
| ||||||
| ACVRL1 | Benign | 9|191 | without_ | No | Single base exchange | N/A | |||||||
| ACVRL1 | Benign | 25|75 | simple_ | No | Single base exchange | Normal |
| ||||||
| ACVRL1 | Benign | 43|57 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:51913114C>T (GRCh38) | |||||||||||||
| Gene symbol | ACVRL1 | |||||||||||||
| Gene constraints | LOEUF: 0.57, LOF (oe): 0.39, misssense (oe): 0.67, synonymous (oe): 1.02 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000550683.5 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.119C>T g.6207C>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 16 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 12 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TCCAGGAGACCCTGTGAAGCCGTCTCGGGGCCCGCTGGTGA | |||||||||||||
| Altered gDNA sequence snippet | TCCAGGAGACCCTGTGAAGCTGTCTCGGGGCCCGCTGGTGA | |||||||||||||
| Original cDNA sequence snippet | CCAGGGAGACCCTGTGAAGCCGTCTCGGGGCCCGCTGGTGA | |||||||||||||
| Altered cDNA sequence snippet | CCAGGGAGACCCTGTGAAGCTGTCTCGGGGCCCGCTGGTGA | |||||||||||||
| Wildtype AA sequence | MALTPPLLLL SAGTMTLGSP RKGLLMLLMA LVTQGDPVKP SRGPLVTCTC ESPHCKGPTC RGAWCTVVLV REEGRHPQEH RGCGNLHREL CRGRPTEFVN HYCCDSHLCN HNVSLVLEAT QPPSEQPGTD GQLALILGPV LALLALVALG VLGLWHVRRR QEKQRGLHSE LGESSLILKA SEQGDSMLGD LLDSDCTTGS GSGLPFLVQR TVARQVALVE CVGKGRYGEV WRGLWHGESV AVKIFSSRDE QSWFRETEIY NTVLLRHDNI LGFIASDMTS RNSSTQLWLI THYHEHGSLY DFLQRQTLEP HLALRLAVSA ACGLAHLHVE IFGTQGKPAI AHRDFKSRNV LVKSNLQCCI ADLGLAVMHS QGSDYLDIGN NPRVGTKRYM APEVLDEQIR TDCFESYKWT DIWAFGLVLW EIARRTIVNG IVEDYRPPFY DVVPNDPSFE DMKKVVCVDQ QTPTIPNRLA ADPVLSGLAQ MMRECWYPNP SARLTALRIK KTLQKISNSP EKPKVIQ* | |||||||||||||
| Mutated AA sequence | MALTPPLLLL SAGTMTLGSP RKGLLMLLMA LVTQGDPVKL SRGPLVTCTC ESPHCKGPTC RGAWCTVVLV REEGRHPQEH RGCGNLHREL CRGRPTEFVN HYCCDSHLCN HNVSLVLEAT QPPSEQPGTD GQLALILGPV LALLALVALG VLGLWHVRRR QEKQRGLHSE LGESSLILKA SEQGDSMLGD LLDSDCTTGS GSGLPFLVQR TVARQVALVE CVGKGRYGEV WRGLWHGESV AVKIFSSRDE QSWFRETEIY NTVLLRHDNI LGFIASDMTS RNSSTQLWLI THYHEHGSLY DFLQRQTLEP HLALRLAVSA ACGLAHLHVE IFGTQGKPAI AHRDFKSRNV LVKSNLQCCI ADLGLAVMHS QGSDYLDIGN NPRVGTKRYM APEVLDEQIR TDCFESYKWT DIWAFGLVLW EIARRTIVNG IVEDYRPPFY DVVPNDPSFE DMKKVVCVDQ QTPTIPNRLA ADPVLSGLAQ MMRECWYPNP SARLTALRIK KTLQKISNSP EKPKVIQ* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1554 / 1554 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 518 / 518 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1655 / 1655 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 102 / 102 | |||||||||||||
| Last intron/exon boundary | 1520 | |||||||||||||
| Theoretical NMD boundary in CDS | 1368 | |||||||||||||
| Length of CDS | 1554 | |||||||||||||
| Coding sequence (CDS) position | 119 | |||||||||||||
| cDNA position | 220 | |||||||||||||
| gDNA position | 6207 | |||||||||||||
| Chromosomal position | 51913114 | |||||||||||||
| Speed | 0.16 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 | Chr12:51913114C>T (GRCh38) | |||||||||||||||||||||
| Gene symbol | ACVRL1 | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.57, LOF (oe): 0.40, misssense (oe): 0.66, synonymous (oe): 1.02 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000388922.9 | |||||||||||||||||||||
| Genbank transcript ID | NM_000020 (exact from MANE), NM_001077401 (by similarity) | |||||||||||||||||||||
| UniProt / AlphaMissense peptide | ACVL1_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.77C>T g.6207C>T | |||||||||||||||||||||
| AA changes |
| |||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||
| Length of protein | Normal | |||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||||||||||
| Variant DBs |
| |||||||||||||||||||||
| Protein conservation | ||||||||||||||||||||||
| Protein features |
| |||||||||||||||||||||
| Phylogenetic conservation |
| |||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||||||||||
| Distance from splice site | 16 | |||||||||||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||||||||||
| poly(A) signal | N/A | |||||||||||||||||||||
| AA sequence altered | Yes | |||||||||||||||||||||
| Chromosome | 12 | |||||||||||||||||||||
| Strand | 1 | |||||||||||||||||||||
| Original gDNA sequence snippet | TCCAGGAGACCCTGTGAAGCCGTCTCGGGGCCCGCTGGTGA | |||||||||||||||||||||
| Altered gDNA sequence snippet | TCCAGGAGACCCTGTGAAGCTGTCTCGGGGCCCGCTGGTGA | |||||||||||||||||||||
| Original cDNA sequence snippet | CCAGGGAGACCCTGTGAAGCCGTCTCGGGGCCCGCTGGTGA | |||||||||||||||||||||
| Altered cDNA sequence snippet | CCAGGGAGACCCTGTGAAGCTGTCTCGGGGCCCGCTGGTGA | |||||||||||||||||||||
| Wildtype AA sequence | MTLGSPRKGL LMLLMALVTQ GDPVKPSRGP LVTCTCESPH CKGPTCRGAW CTVVLVREEG RHPQEHRGCG NLHRELCRGR PTEFVNHYCC DSHLCNHNVS LVLEATQPPS EQPGTDGQLA LILGPVLALL ALVALGVLGL WHVRRRQEKQ RGLHSELGES SLILKASEQG DSMLGDLLDS DCTTGSGSGL PFLVQRTVAR QVALVECVGK GRYGEVWRGL WHGESVAVKI FSSRDEQSWF RETEIYNTVL LRHDNILGFI ASDMTSRNSS TQLWLITHYH EHGSLYDFLQ RQTLEPHLAL RLAVSAACGL AHLHVEIFGT QGKPAIAHRD FKSRNVLVKS NLQCCIADLG LAVMHSQGSD YLDIGNNPRV GTKRYMAPEV LDEQIRTDCF ESYKWTDIWA FGLVLWEIAR RTIVNGIVED YRPPFYDVVP NDPSFEDMKK VVCVDQQTPT IPNRLAADPV LSGLAQMMRE CWYPNPSARL TALRIKKTLQ KISNSPEKPK VIQ* | |||||||||||||||||||||
| Mutated AA sequence | MTLGSPRKGL LMLLMALVTQ GDPVKLSRGP LVTCTCESPH CKGPTCRGAW CTVVLVREEG RHPQEHRGCG NLHRELCRGR PTEFVNHYCC DSHLCNHNVS LVLEATQPPS EQPGTDGQLA LILGPVLALL ALVALGVLGL WHVRRRQEKQ RGLHSELGES SLILKASEQG DSMLGDLLDS DCTTGSGSGL PFLVQRTVAR QVALVECVGK GRYGEVWRGL WHGESVAVKI FSSRDEQSWF RETEIYNTVL LRHDNILGFI ASDMTSRNSS TQLWLITHYH EHGSLYDFLQ RQTLEPHLAL RLAVSAACGL AHLHVEIFGT QGKPAIAHRD FKSRNVLVKS NLQCCIADLG LAVMHSQGSD YLDIGNNPRV GTKRYMAPEV LDEQIRTDCF ESYKWTDIWA FGLVLWEIAR RTIVNGIVED YRPPFYDVVP NDPSFEDMKK VVCVDQQTPT IPNRLAADPV LSGLAQMMRE CWYPNPSARL TALRIKKTLQ KISNSPEKPK VIQ* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 1512 / 1512 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 504 / 504 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 1709 / 1709 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 198 / 198 | |||||||||||||||||||||
| Last intron/exon boundary | 1574 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 1326 | |||||||||||||||||||||
| Length of CDS | 1512 | |||||||||||||||||||||
| Coding sequence (CDS) position | 77 | |||||||||||||||||||||
| cDNA position | 274 | |||||||||||||||||||||
| gDNA position | 6207 | |||||||||||||||||||||
| Chromosomal position | 51913114 | |||||||||||||||||||||
| Speed | 0.16 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 | Chr12:51913114C>T (GRCh38) | |||||||||||||||||||||
| Gene symbol | ACVRL1 | |||||||||||||||||||||
| Gene constraints | LOEUF: 1.89, LOF (oe): 1.30, misssense (oe): 0.92, synonymous (oe): 1.17 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000551576.6 | |||||||||||||||||||||
| Genbank transcript ID | NM_001406487 (by similarity) | |||||||||||||||||||||
| UniProt / AlphaMissense peptide | ACVL1_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.77C>T g.6207C>T | |||||||||||||||||||||
| AA changes |
| |||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||
| Length of protein | Normal | |||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||||||||||
| Variant DBs |
| |||||||||||||||||||||
| Protein conservation | ||||||||||||||||||||||
| Protein features |
| |||||||||||||||||||||
| Phylogenetic conservation |
| |||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||||||||||
| Distance from splice site | 16 | |||||||||||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||||||||||
| poly(A) signal | N/A | |||||||||||||||||||||
| AA sequence altered | Yes | |||||||||||||||||||||
| Chromosome | 12 | |||||||||||||||||||||
| Strand | 1 | |||||||||||||||||||||
| Original gDNA sequence snippet | TCCAGGAGACCCTGTGAAGCCGTCTCGGGGCCCGCTGGTGA | |||||||||||||||||||||
| Altered gDNA sequence snippet | TCCAGGAGACCCTGTGAAGCTGTCTCGGGGCCCGCTGGTGA | |||||||||||||||||||||
| Original cDNA sequence snippet | CCAGGGAGACCCTGTGAAGCCGTCTCGGGGCCCGCTGGTGA | |||||||||||||||||||||
| Altered cDNA sequence snippet | CCAGGGAGACCCTGTGAAGCTGTCTCGGGGCCCGCTGGTGA | |||||||||||||||||||||
| Wildtype AA sequence | MTLGSPRKGL LMLLMALVTQ GDPVKPSRGP LVTCTCESPH CKGPTCRGAW CTVVLVREEG RHPQEHRGCG NLHRELCRGR PTEFVNHYCC DSHLCNHNVS LVLEATQPPS EQPGTDGQLA LILGPVLALL ALVALGVLGL WHVRRRQEKQ RGLHSELGES SLILKASEQG DSMLGDLLDS DCTTGSGSGL PFLVQRTVAR QVALVECVGK GRYGEVWRGL WHGESVAVKI FSSRDEQSWF RETEIYNTVL LRHDNILGFI ASDMTSRNSS TQLWLITHYH EHGSLYDFLQ RQTLEPHLAL RLAVSAACGL AHLHVEIFGT QGKPAIAHRD FKSRNVLVKS NLQCCIADLG LAVMHSQGSD YLDIGNNPRV GTKRYMAPEV LDEQIRTDCF ESYKWTDIWA FGLVLWEIAR RTIVNGIVED YRPPFYDVVP NDPSFEDMKK VVCVDQQTPT IPNRLAADPV LSGLAQMMRE CWYPNPSARL TALRIKKTLQ KISNSPEKPK VIQ* | |||||||||||||||||||||
| Mutated AA sequence | MTLGSPRKGL LMLLMALVTQ GDPVKLSRGP LVTCTCESPH CKGPTCRGAW CTVVLVREEG RHPQEHRGCG NLHRELCRGR PTEFVNHYCC DSHLCNHNVS LVLEATQPPS EQPGTDGQLA LILGPVLALL ALVALGVLGL WHVRRRQEKQ RGLHSELGES SLILKASEQG DSMLGDLLDS DCTTGSGSGL PFLVQRTVAR QVALVECVGK GRYGEVWRGL WHGESVAVKI FSSRDEQSWF RETEIYNTVL LRHDNILGFI ASDMTSRNSS TQLWLITHYH EHGSLYDFLQ RQTLEPHLAL RLAVSAACGL AHLHVEIFGT QGKPAIAHRD FKSRNVLVKS NLQCCIADLG LAVMHSQGSD YLDIGNNPRV GTKRYMAPEV LDEQIRTDCF ESYKWTDIWA FGLVLWEIAR RTIVNGIVED YRPPFYDVVP NDPSFEDMKK VVCVDQQTPT IPNRLAADPV LSGLAQMMRE CWYPNPSARL TALRIKKTLQ KISNSPEKPK VIQ* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 1512 / 1512 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 504 / 504 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 1802 / 1802 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 291 / 291 | |||||||||||||||||||||
| Last intron/exon boundary | 1667 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 1326 | |||||||||||||||||||||
| Length of CDS | 1512 | |||||||||||||||||||||
| Coding sequence (CDS) position | 77 | |||||||||||||||||||||
| cDNA position | 367 | |||||||||||||||||||||
| gDNA position | 6207 | |||||||||||||||||||||
| Chromosomal position | 51913114 | |||||||||||||||||||||
| Speed | 0.13 s | |||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr12:51913114C>T (GRCh38) | |||||||||||||
| Gene symbol | ACVRL1 | |||||||||||||
| Gene constraints | LOEUF: 1.03, LOF (oe): 0.57, misssense (oe): 0.80, synonymous (oe): 1.06 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000547400.6 | |||||||||||||
| Genbank transcript ID | NM_001406491 (by similarity), NM_001406490 (by similarity), NM_001406492 (by similarity), NM_001406494 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.119C>T g.6207C>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 16 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 12 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TCCAGGAGACCCTGTGAAGCCGTCTCGGGGCCCGCTGGTGA | |||||||||||||
| Altered gDNA sequence snippet | TCCAGGAGACCCTGTGAAGCTGTCTCGGGGCCCGCTGGTGA | |||||||||||||
| Original cDNA sequence snippet | CCAGGGAGACCCTGTGAAGCCGTCTCGGGGCCCGCTGGTGA | |||||||||||||
| Altered cDNA sequence snippet | CCAGGGAGACCCTGTGAAGCTGTCTCGGGGCCCGCTGGTGA | |||||||||||||
| Wildtype AA sequence | MALTPPLLLL SAGTMTLGSP RKGLLMLLMA LVTQGDPVKP SRGPLVTCTC ESPHCKGPTC RGAWCTVVLV REEGRHPQEH RGCGNLHREL CRGRPTEFVN HYCCDSHLCN HNVSLVLEGK GRYGEVWRGL WHGESVAVKI FSSRDEQSWF RETEIYNTVL LRHDNILGFI ASDMTSRNSS TQLWLITHYH EHGSLYDFLQ RQTLEPHLAL RLAVSAACGL AHLHVEIFGT QGKPAIAHRD FKSRNVLVKS NLQCCIADLG LAVMHSQGSD YLDIGNNPRV GTKRYMAPEV LDEQIRTDCF ESYKWTDIWA FGLVLWEIAR RTIVNGIVED YRPPFYDVVP NDPSFEDMKK VVCVDQQTPT IPNRLAADPV LSGLAQMMRE CWYPNPSARL TALRIKKTLQ KISNSPEKPK VIQ* | |||||||||||||
| Mutated AA sequence | MALTPPLLLL SAGTMTLGSP RKGLLMLLMA LVTQGDPVKL SRGPLVTCTC ESPHCKGPTC RGAWCTVVLV REEGRHPQEH RGCGNLHREL CRGRPTEFVN HYCCDSHLCN HNVSLVLEGK GRYGEVWRGL WHGESVAVKI FSSRDEQSWF RETEIYNTVL LRHDNILGFI ASDMTSRNSS TQLWLITHYH EHGSLYDFLQ RQTLEPHLAL RLAVSAACGL AHLHVEIFGT QGKPAIAHRD FKSRNVLVKS NLQCCIADLG LAVMHSQGSD YLDIGNNPRV GTKRYMAPEV LDEQIRTDCF ESYKWTDIWA FGLVLWEIAR RTIVNGIVED YRPPFYDVVP NDPSFEDMKK VVCVDQQTPT IPNRLAADPV LSGLAQMMRE CWYPNPSARL TALRIKKTLQ KISNSPEKPK VIQ* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1242 / 1242 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 414 / 414 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1346 / 1346 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 105 / 105 | |||||||||||||
| Last intron/exon boundary | 1211 | |||||||||||||
| Theoretical NMD boundary in CDS | 1056 | |||||||||||||
| Length of CDS | 1242 | |||||||||||||
| Coding sequence (CDS) position | 119 | |||||||||||||
| cDNA position | 223 | |||||||||||||
| gDNA position | 6207 | |||||||||||||
| Chromosomal position | 51913114 | |||||||||||||
| Speed | 0.15 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 | Chr12:51913114C>T (GRCh38) | |||||||||||||
| Gene symbol | ACVRL1 | |||||||||||||
| Gene constraints | LOEUF: 0.46, LOF (oe): 0.27, misssense (oe): 0.57, synonymous (oe): 0.96 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000419526.6 | |||||||||||||
| Genbank transcript ID | NM_001406495 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.103+579C>T g.6207C>T | |||||||||||||
| AA changes | N/A | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | N/A | |||||||||||||
| 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? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 12 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TCCAGGAGACCCTGTGAAGCCGTCTCGGGGCCCGCTGGTGA | |||||||||||||
| Altered gDNA sequence snippet | TCCAGGAGACCCTGTGAAGCTGTCTCGGGGCCCGCTGGTGA | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MALTPPLLLL SAGTMTLGSP RKGLLMLLMA LVTQGKGRYG EVWRGLWHGE SVAVKIFSSR DEQSWFRETE IYNTVLLRHD NILGFIASDM TSRNSSTQLW LITHYHEHGS LYDFLQRQTL EPHLALRLAV SAACGLAHLH VEIFGTQGKP AIAHRDFKSR NVLVKSNLQC CIADLGLAVM HSQGSDYLDI GNNPRVGTKR YMAPEVLDEQ IRTDCFESYK WTDIWAFGLV LWEIARRTIV NGIVEDYRPP FYDVVPNDPS FEDMKKVVCV DQQTPTIPNR LAADPVLSGL AQMMRECWYP NPSARLTALR IKKTLQKISN SPEKPKVIQ* | |||||||||||||
| Mutated AA sequence | ||||||||||||||
| Position of stopcodon in wt / mu CDS | N/A | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | N/A | |||||||||||||
| Position of stopcodon in wt / mu cDNA | N/A | |||||||||||||
| Position of start ATG in wt / mu cDNA | 63 / 63 | |||||||||||||
| Last intron/exon boundary | 917 | |||||||||||||
| Theoretical NMD boundary in CDS | 804 | |||||||||||||
| Length of CDS | 990 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 6207 | |||||||||||||
| Chromosomal position | 51913114 | |||||||||||||
| 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 | Chr12:51913114C>T (GRCh38) | |||||||||||||
| Gene symbol | ACVRL1 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000713619.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.77C>T g.6207C>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 16 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 12 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TCCAGGAGACCCTGTGAAGCCGTCTCGGGGCCCGCTGGTGA | |||||||||||||
| Altered gDNA sequence snippet | TCCAGGAGACCCTGTGAAGCTGTCTCGGGGCCCGCTGGTGA | |||||||||||||
| Original cDNA sequence snippet | CCAGGGAGACCCTGTGAAGCCGTCTCGGGGCCCGCTGGTGA | |||||||||||||
| Altered cDNA sequence snippet | CCAGGGAGACCCTGTGAAGCTGTCTCGGGGCCCGCTGGTGA | |||||||||||||
| Wildtype AA sequence | MTLGSPRKGL LMLLMALVTQ GDPVKPSRGP LVTCTCESPH CKGPTCRGAW CTVVLVREEG RHPQEHRGCG NLHRELCRGR PTEFVNHYCC DSHLCNHNVS LVLEATQPPS EQPGTDGQLA LILGPVLALL ALVALGVLGL WHVRRRQEKQ RGLHSELGES SLILKASEQG DSMLGDLLDS DCTTGSGSGL PFLVQRTVAR QVALVECVGK GRYGEVWRGL WHGFIASDMT SRNSSTQLWL ITHYHEHGSL YDFLQRQTLE PHLALRLAVS AACGLAHLHV EIFGTQGKPA IAHRDFKSRN VLVKSNLQCC IADLGLAVMH SQGSDYLDIG NNPRVGTKRY MAPEVLDEQI RTDCFESYKW TDIWAFGLVL WEIARRTIVN GIVEDYRPPF YDVVPNDPSF EDMKKVVCVD QQTPTIPNRL AADPVLSGLA QMMRECWYPN PSARLTALRI KKTLQKISNS PEKPKVIQ* | |||||||||||||
| Mutated AA sequence | MTLGSPRKGL LMLLMALVTQ GDPVKLSRGP LVTCTCESPH CKGPTCRGAW CTVVLVREEG RHPQEHRGCG NLHRELCRGR PTEFVNHYCC DSHLCNHNVS LVLEATQPPS EQPGTDGQLA LILGPVLALL ALVALGVLGL WHVRRRQEKQ RGLHSELGES SLILKASEQG DSMLGDLLDS DCTTGSGSGL PFLVQRTVAR QVALVECVGK GRYGEVWRGL WHGFIASDMT SRNSSTQLWL ITHYHEHGSL YDFLQRQTLE PHLALRLAVS AACGLAHLHV EIFGTQGKPA IAHRDFKSRN VLVKSNLQCC IADLGLAVMH SQGSDYLDIG NNPRVGTKRY MAPEVLDEQI RTDCFESYKW TDIWAFGLVL WEIARRTIVN GIVEDYRPPF YDVVPNDPSF EDMKKVVCVD QQTPTIPNRL AADPVLSGLA QMMRECWYPN PSARLTALRI KKTLQKISNS PEKPKVIQ* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1407 / 1407 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 469 / 469 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1611 / 1611 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 205 / 205 | |||||||||||||
| Last intron/exon boundary | 1476 | |||||||||||||
| Theoretical NMD boundary in CDS | 1221 | |||||||||||||
| Length of CDS | 1407 | |||||||||||||
| Coding sequence (CDS) position | 77 | |||||||||||||
| cDNA position | 281 | |||||||||||||
| gDNA position | 6207 | |||||||||||||
| Chromosomal position | 51913114 | |||||||||||||
| Speed | 0.15 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 | Chr12:51913114C>T (GRCh38) | |||||||||||||
| Gene symbol | ACVRL1 | |||||||||||||
| Gene constraints | LOEUF: 0.54, LOF (oe): 0.17, misssense (oe): 0.59, synonymous (oe): 0.88 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000552678.2 | |||||||||||||
| Genbank transcript ID | NM_001406488 (by similarity), NM_001406489 (by similarity), NM_001406493 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.77C>T g.6207C>T | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 16 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 12 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TCCAGGAGACCCTGTGAAGCCGTCTCGGGGCCCGCTGGTGA | |||||||||||||
| Altered gDNA sequence snippet | TCCAGGAGACCCTGTGAAGCTGTCTCGGGGCCCGCTGGTGA | |||||||||||||
| Original cDNA sequence snippet | CCAGGGAGACCCTGTGAAGCCGTCTCGGGGCCCGCTGGTGA | |||||||||||||
| Altered cDNA sequence snippet | CCAGGGAGACCCTGTGAAGCTGTCTCGGGGCCCGCTGGTGA | |||||||||||||
| Wildtype AA sequence | MTLGSPRKGL LMLLMALVTQ GDPVKPSRGP LVTCTCESPH CKGPTCRGAW CTVVLVREEG RHPQEHRGCG NLHRELCRGR PTEFVNHYCC DSHLCNHNVS LVLEATQPPS EQPGTDGQLA LILGPVLALL ALVALGVLGL WHVRRRQEKQ RGLHSELGES SLILKASEQG DSMLGDLLDS DCTTGSGSGL PFLVQRTVAR QVALVECVGK GRYGEVWRGL WHGESVAVKI FSSRDEQSWF RETEIYNTVL LRHDNILGFI ASDMTSRNSS TQLWLITHYH EHGSLYDFLQ RQTLEPHLAL RLAVSAACGL AHLHVEIFGT QGKPAIAHRD FKSRNVLVKS NLQCCIADLG LAVMHSQGSD YLDIGNNPRV GTKRYMAPEV LDEQIRTDCF ESYKWTDIWA FGLVLWEIAR RTIVNGIVED YRPPFYDVVP NDPSFEDMKK VVCVDQQTPT IPNRLAADPV RPLLGLGWRG VVAHGWDFWA QELVSEASAS SHRY* | |||||||||||||
| Mutated AA sequence | MTLGSPRKGL LMLLMALVTQ GDPVKLSRGP LVTCTCESPH CKGPTCRGAW CTVVLVREEG RHPQEHRGCG NLHRELCRGR PTEFVNHYCC DSHLCNHNVS LVLEATQPPS EQPGTDGQLA LILGPVLALL ALVALGVLGL WHVRRRQEKQ RGLHSELGES SLILKASEQG DSMLGDLLDS DCTTGSGSGL PFLVQRTVAR QVALVECVGK GRYGEVWRGL WHGESVAVKI FSSRDEQSWF RETEIYNTVL LRHDNILGFI ASDMTSRNSS TQLWLITHYH EHGSLYDFLQ RQTLEPHLAL RLAVSAACGL AHLHVEIFGT QGKPAIAHRD FKSRNVLVKS NLQCCIADLG LAVMHSQGSD YLDIGNNPRV GTKRYMAPEV LDEQIRTDCF ESYKWTDIWA FGLVLWEIAR RTIVNGIVED YRPPFYDVVP NDPSFEDMKK VVCVDQQTPT IPNRLAADPV RPLLGLGWRG VVAHGWDFWA QELVSEASAS SHRY* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1485 / 1485 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 495 / 495 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1565 / 1565 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 81 / 81 | |||||||||||||
| Last intron/exon boundary | 1326 | |||||||||||||
| Theoretical NMD boundary in CDS | 1195 | |||||||||||||
| Length of CDS | 1485 | |||||||||||||
| Coding sequence (CDS) position | 77 | |||||||||||||
| cDNA position | 157 | |||||||||||||
| gDNA position | 6207 | |||||||||||||
| Chromosomal position | 51913114 | |||||||||||||
| Speed | 0.12 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project