| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000389398(MANE Select) | VWA3A | Deleterious | 59|41 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr16:22116814A>G (GRCh38) | |||||||||||||
| Gene symbol | VWA3A | |||||||||||||
| Gene constraints | LOEUF: 1.01, LOF (oe): 0.87, misssense (oe): 0.89, synonymous (oe): 0.86 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000389398.10 | |||||||||||||
| Genbank transcript ID | NM_173615 (exact from MANE) | |||||||||||||
| UniProt / AlphaMissense peptide | VWA3A_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.871A>G g.24277A>G | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features |
| |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 16 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | TCCAGCAGTCCACCATGGGAAGAGACCTCATCATCCACTTC | |||||||||||||
| Altered gDNA sequence snippet | TCCAGCAGTCCACCATGGGAGGAGACCTCATCATCCACTTC | |||||||||||||
| Original cDNA sequence snippet | TCCAGCAGTCCACCATGGGAAGAGACCTCATCATCCACTTC | |||||||||||||
| Altered cDNA sequence snippet | TCCAGCAGTCCACCATGGGAGGAGACCTCATCATCCACTTC | |||||||||||||
| Wildtype AA sequence | MKKYRKISIG CFAMATQTSH VFHGQENMFL ENHCIRRNTG RDSKKPLKQK NMNGLGQNSD NGLLVTHVNQ TQDLLRLQGS ETQSSDWEDS EDWLSAHSLK CQKLTLADLI SQGTEVLEEG TNVVQKICFS TQIIRHFESK LSDTIEVYQE RIQWLTENSK KAFGLIKGAR VSILIDVSAI SSGPQKEEFQ KDLMSLIDEQ LSHKEKLFVL SFGTNAGSLW PDPMEVSAST LQELKLWVKT LQPDGGSNLL QALKKIFTLK GLDSLVAIMR SCPDQPSEIL SDYIQQSTMG RDLIIHFITY RCDDQMPPAV LKNLAEAVRG YYHCYSPKME HYTSRDMDEL LAEIQKAQSL LSHVQALQHS SPCEALTCTM EEISTEITNG PLISLLPKPP KHDAPLTIEF PNLDKTSAEW LKVNGLKAKK LSLYQVLAPN AFSPVEEFVP ILQKTVSSTI HEKAMIQFEW HDGTVKNIHV DPPFLYKYQQ QLSRAMRMYE RRIEWLSLAS RRIWGTVCEK RVVVLLDISA TNSMYIIHIQ HSLRLLLEEQ LSNKDCFNLI AFGSTIESWR PEMVPVSHNN LQSAWRWALN LRCRGSRNVL SALRKAVEVD FKDKDKHQSQ GIYLFTGGIP DQDMPTLSAY MAEACGGCDL QLNVCLFYVG EPKMDTTPPA RYASHTDTAA AYKEVTRAAG GRFHWFGDTG IYESDDINSI MSEMEKALNY SQKCAFLMAS LKNHSGKVLG SSALPKEKPK TLQLRSQPKK LCPPRPTVPL GARMSIKDDP DREKSPPLKS LKWRPLSSRV GISPAAAQPT KEGMMELRRK TKSREAETSL LLFYTEKGND VGSVYKKYPQ GRGLRRTSSS IDLPRKDTVC SSQEWVAKYG LKKLKLEISR CMGPNCTHQK SGQRSASAKH CSIFPSVEIH GVVRHIQWTP REMEVYIRHL EKVLRRYVQR LQWLLSGSRR LFGTVLESKV CILLDTSGSM GPYLQQVKTE LVLLIWEQLR KCCDSFNLLS FAESFQSWQD TLVETTDAAC HEAMQWVTHL QAQGSTSILQ ALLKAFSFHD LEGLYLLTDG KPDTSCSLVL NEVQKLREKR DVKVHTISLN CSDRAAVEFL RKLASFTGGR YHCPVGEDTL SKIHSLLTKG FINEKDPTLP PFEGDDLRIL AQEITKARSF LWQAQSFRSQ LQKKNDAEPK VTLS* | |||||||||||||
| Mutated AA sequence | MKKYRKISIG CFAMATQTSH VFHGQENMFL ENHCIRRNTG RDSKKPLKQK NMNGLGQNSD NGLLVTHVNQ TQDLLRLQGS ETQSSDWEDS EDWLSAHSLK CQKLTLADLI SQGTEVLEEG TNVVQKICFS TQIIRHFESK LSDTIEVYQE RIQWLTENSK KAFGLIKGAR VSILIDVSAI SSGPQKEEFQ KDLMSLIDEQ LSHKEKLFVL SFGTNAGSLW PDPMEVSAST LQELKLWVKT LQPDGGSNLL QALKKIFTLK GLDSLVAIMR SCPDQPSEIL SDYIQQSTMG GDLIIHFITY RCDDQMPPAV LKNLAEAVRG YYHCYSPKME HYTSRDMDEL LAEIQKAQSL LSHVQALQHS SPCEALTCTM EEISTEITNG PLISLLPKPP KHDAPLTIEF PNLDKTSAEW LKVNGLKAKK LSLYQVLAPN AFSPVEEFVP ILQKTVSSTI HEKAMIQFEW HDGTVKNIHV DPPFLYKYQQ QLSRAMRMYE RRIEWLSLAS RRIWGTVCEK RVVVLLDISA TNSMYIIHIQ HSLRLLLEEQ LSNKDCFNLI AFGSTIESWR PEMVPVSHNN LQSAWRWALN LRCRGSRNVL SALRKAVEVD FKDKDKHQSQ GIYLFTGGIP DQDMPTLSAY MAEACGGCDL QLNVCLFYVG EPKMDTTPPA RYASHTDTAA AYKEVTRAAG GRFHWFGDTG IYESDDINSI MSEMEKALNY SQKCAFLMAS LKNHSGKVLG SSALPKEKPK TLQLRSQPKK LCPPRPTVPL GARMSIKDDP DREKSPPLKS LKWRPLSSRV GISPAAAQPT KEGMMELRRK TKSREAETSL LLFYTEKGND VGSVYKKYPQ GRGLRRTSSS IDLPRKDTVC SSQEWVAKYG LKKLKLEISR CMGPNCTHQK SGQRSASAKH CSIFPSVEIH GVVRHIQWTP REMEVYIRHL EKVLRRYVQR LQWLLSGSRR LFGTVLESKV CILLDTSGSM GPYLQQVKTE LVLLIWEQLR KCCDSFNLLS FAESFQSWQD TLVETTDAAC HEAMQWVTHL QAQGSTSILQ ALLKAFSFHD LEGLYLLTDG KPDTSCSLVL NEVQKLREKR DVKVHTISLN CSDRAAVEFL RKLASFTGGR YHCPVGEDTL SKIHSLLTKG FINEKDPTLP PFEGDDLRIL AQEITKARSF LWQAQSFRSQ LQKKNDAEPK VTLS* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3555 / 3555 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1185 / 1185 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3652 / 3652 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 98 / 98 | |||||||||||||
| Last intron/exon boundary | 3666 | |||||||||||||
| Theoretical NMD boundary in CDS | 3518 | |||||||||||||
| Length of CDS | 3555 | |||||||||||||
| Coding sequence (CDS) position | 871 | |||||||||||||
| cDNA position | 968 | |||||||||||||
| gDNA position | 24277 | |||||||||||||
| Chromosomal position | 22116814 | |||||||||||||
| Speed | 0.33 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