| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000333628(MANE Select) | TUBB2A | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr6:3153907C>G (GRCh38) | |||||||||||||||||||||
| Gene symbol | TUBB2A | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.45, LOF (oe): 0.23, misssense (oe): 0.17, synonymous (oe): 0.90 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000333628.4 | |||||||||||||||||||||
| Genbank transcript ID | NM_001069 (exact from MANE), NM_001310315 (by similarity) | |||||||||||||||||||||
| UniProt / AlphaMissense peptide | TBB2A_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.1294G>C g.3638G>C | |||||||||||||||||||||
| AA changes |
| |||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||
| Length of protein | Normal | |||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||||||||||
| Variant DBs |
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| Protein conservation | ||||||||||||||||||||||
| Protein features |
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| Phylogenetic conservation |
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| 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 | 6 | |||||||||||||||||||||
| Strand | -1 | |||||||||||||||||||||
| Original gDNA sequence snippet | ACCAGGACGCCACGGCCGACGAACAAGGGGAGTTCGAGGAG | |||||||||||||||||||||
| Altered gDNA sequence snippet | ACCAGGACGCCACGGCCGACCAACAAGGGGAGTTCGAGGAG | |||||||||||||||||||||
| Original cDNA sequence snippet | ACCAGGACGCCACGGCCGACGAACAAGGGGAGTTCGAGGAG | |||||||||||||||||||||
| Altered cDNA sequence snippet | ACCAGGACGCCACGGCCGACCAACAAGGGGAGTTCGAGGAG | |||||||||||||||||||||
| Wildtype AA sequence | MREIVHIQAG QCGNQIGAKF WEVISDEHGI DPTGSYHGDS DLQLERINVY YNEAAGNKYV PRAILVDLEP GTMDSVRSGP FGQIFRPDNF VFGQSGAGNN WAKGHYTEGA ELVDSVLDVV RKESESCDCL QGFQLTHSLG GGTGSGMGTL LISKIREEYP DRIMNTFSVM PSPKVSDTVV EPYNATLSVH QLVENTDETY SIDNEALYDI CFRTLKLTTP TYGDLNHLVS ATMSGVTTCL RFPGQLNADL RKLAVNMVPF PRLHFFMPGF APLTSRGSQQ YRALTVPELT QQMFDSKNMM AACDPRHGRY LTVAAIFRGR MSMKEVDEQM LNVQNKNSSY FVEWIPNNVK TAVCDIPPRG LKMSATFIGN STAIQELFKR ISEQFTAMFR RKAFLHWYTG EGMDEMEFTE AESNMNDLVS EYQQYQDATA DEQGEFEEEE GEDEA* | |||||||||||||||||||||
| Mutated AA sequence | MREIVHIQAG QCGNQIGAKF WEVISDEHGI DPTGSYHGDS DLQLERINVY YNEAAGNKYV PRAILVDLEP GTMDSVRSGP FGQIFRPDNF VFGQSGAGNN WAKGHYTEGA ELVDSVLDVV RKESESCDCL QGFQLTHSLG GGTGSGMGTL LISKIREEYP DRIMNTFSVM PSPKVSDTVV EPYNATLSVH QLVENTDETY SIDNEALYDI CFRTLKLTTP TYGDLNHLVS ATMSGVTTCL RFPGQLNADL RKLAVNMVPF PRLHFFMPGF APLTSRGSQQ YRALTVPELT QQMFDSKNMM AACDPRHGRY LTVAAIFRGR MSMKEVDEQM LNVQNKNSSY FVEWIPNNVK TAVCDIPPRG LKMSATFIGN STAIQELFKR ISEQFTAMFR RKAFLHWYTG EGMDEMEFTE AESNMNDLVS EYQQYQDATA DQQGEFEEEE GEDEA* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 1338 / 1338 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 446 / 446 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 1419 / 1419 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 82 / 82 | |||||||||||||||||||||
| Last intron/exon boundary | 358 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 226 | |||||||||||||||||||||
| Length of CDS | 1338 | |||||||||||||||||||||
| Coding sequence (CDS) position | 1294 | |||||||||||||||||||||
| cDNA position | 1375 | |||||||||||||||||||||
| gDNA position | 3638 | |||||||||||||||||||||
| Chromosomal position | 3153907 | |||||||||||||||||||||
| Speed | 0.22 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