| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000288710(MANE Select) | DRC1 | Benign | 0|200 | without_ | No | Single base exchange | Normal |
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr2:26402046C>T (GRCh38) | |||||||||||||
| Gene symbol | DRC1 | |||||||||||||
| Gene constraints | LOEUF: 0.87, LOF (oe): 0.72, misssense (oe): 0.94, synonymous (oe): 0.95 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000288710.7 | |||||||||||||
| Genbank transcript ID | NM_145038 (exact from MANE) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.57C>T g.127C>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 | 2 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | AACGTGGACGAGCACTTGTCCACCCAGATTCTCGCGCCCTC | |||||||||||||
| Altered gDNA sequence snippet | AACGTGGACGAGCACTTGTCTACCCAGATTCTCGCGCCCTC | |||||||||||||
| Original cDNA sequence snippet | AACGTGGACGAGCACTTGTCCACCCAGATTCTCGCGCCCTC | |||||||||||||
| Altered cDNA sequence snippet | AACGTGGACGAGCACTTGTCTACCCAGATTCTCGCGCCCTC | |||||||||||||
| Wildtype AA sequence | MNPPGSLEAL DPNVDEHLST QILAPSVHSD NSQERIQARR LRIAARLEAR RREALGEYLD GKKESEEDQS KSYKQKEESR LKLAKLLLCG TELVTNIQVA IDIREIHRRV EEEEIKRQRI EKLENEVKTS QDKFDEITSK WEEGKQKRIP QELWEMLNTQ QLHCAGLLED KNKLISELQQ ELKTKDDQYV KDLKKQSDDI CLLLERMEEQ VKNVMKTFRE ELYNIEKAFE VERQELLASN KKKWEQALQA HNAKELEYLN NRMKKVEDYE KQLNRQRIWD CEEYNMIKIK LEQDVQILEQ QLQQRKAIYQ LNQEKLEYNL QVLKKRDEES TVIKSQQKRK INRLHDILNN LRSKYAKQIK QFQEENQSLT SDYKRLVMQF KELQKAMRHF ALIDDEKFWE IWLMNEEEAK DLIARAFDVD RIIHTHHLGL PWAAPDFWFL NNVGPISQQP QKSATQIVEE MLMRSEEEEA EEAAAEPESY LDLPKQISEK TTKRILMLLC DESGFLIESK LLSLLLPLEQ NECYLLRLDA IFSALGIESE DDLYKLVNFF LKYRAHRLSS SLQIKPCSQA SMEKASMEET STRSELELAE QTEMEGEKEE SLVEGEKEEE EETPPSPWVI HPNDVLKILE AFVMGLKKPR DSRAPLRVQK NVRDNSKDSE YWQALTTVIP SSKQNLWDAL YTALEKYHLV LTQRAKLLLE NSSLEQQNTE LQALLQQYLN SKINSELQVP PTQVLRVPTK * | |||||||||||||
| Mutated AA sequence | MNPPGSLEAL DPNVDEHLST QILAPSVHSD NSQERIQARR LRIAARLEAR RREALGEYLD GKKESEEDQS KSYKQKEESR LKLAKLLLCG TELVTNIQVA IDIREIHRRV EEEEIKRQRI EKLENEVKTS QDKFDEITSK WEEGKQKRIP QELWEMLNTQ QLHCAGLLED KNKLISELQQ ELKTKDDQYV KDLKKQSDDI CLLLERMEEQ VKNVMKTFRE ELYNIEKAFE VERQELLASN KKKWEQALQA HNAKELEYLN NRMKKVEDYE KQLNRQRIWD CEEYNMIKIK LEQDVQILEQ QLQQRKAIYQ LNQEKLEYNL QVLKKRDEES TVIKSQQKRK INRLHDILNN LRSKYAKQIK QFQEENQSLT SDYKRLVMQF KELQKAMRHF ALIDDEKFWE IWLMNEEEAK DLIARAFDVD RIIHTHHLGL PWAAPDFWFL NNVGPISQQP QKSATQIVEE MLMRSEEEEA EEAAAEPESY LDLPKQISEK TTKRILMLLC DESGFLIESK LLSLLLPLEQ NECYLLRLDA IFSALGIESE DDLYKLVNFF LKYRAHRLSS SLQIKPCSQA SMEKASMEET STRSELELAE QTEMEGEKEE SLVEGEKEEE EETPPSPWVI HPNDVLKILE AFVMGLKKPR DSRAPLRVQK NVRDNSKDSE YWQALTTVIP SSKQNLWDAL YTALEKYHLV LTQRAKLLLE NSSLEQQNTE LQALLQQYLN SKINSELQVP PTQVLRVPTK * | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2223 / 2223 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 741 / 741 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2293 / 2293 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 71 / 71 | |||||||||||||
| Last intron/exon boundary | 2236 | |||||||||||||
| Theoretical NMD boundary in CDS | 2115 | |||||||||||||
| Length of CDS | 2223 | |||||||||||||
| Coding sequence (CDS) position | 57 | |||||||||||||
| cDNA position | 127 | |||||||||||||
| gDNA position | 127 | |||||||||||||
| Chromosomal position | 26402046 | |||||||||||||
| 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