| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000334304(MANE Select) | ADGRA3 | Benign | 45|155 | without_ | No | Single base exchange | Normal |
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr4:22388491A>C (GRCh38) | |||||||||||||
| Gene symbol | ADGRA3 | |||||||||||||
| Gene constraints | LOEUF: 0.61, LOF (oe): 0.48, misssense (oe): 0.91, synonymous (oe): 0.95 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000334304.10 | |||||||||||||
| Genbank transcript ID | NM_145290 (exact from MANE) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3180T>G g.127576T>G | |||||||||||||
| 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 | 4 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | AGACTTGCGTGGATCATGACTTGCTGCCCAGGACGGAGCTC | |||||||||||||
| Altered gDNA sequence snippet | AGACTTGCGTGGATCATGACGTGCTGCCCAGGACGGAGCTC | |||||||||||||
| Original cDNA sequence snippet | AGACTTGCGTGGATCATGACTTGCTGCCCAGGACGGAGCTC | |||||||||||||
| Altered cDNA sequence snippet | AGACTTGCGTGGATCATGACGTGCTGCCCAGGACGGAGCTC | |||||||||||||
| Wildtype AA sequence | MEPPGRRRGR AQPPLLLPLS LLALLALLGG GGGGGAAALP AGCKHDGRPR GAGRAAGAAE GKVVCSSLEL AQVLPPDTLP NRTVTLILSN NKISELKNGS FSGLSLLERL DLRNNLISSI DPGAFWGLSS LKRLDLTNNR IGCLNADIFR GLTNLVRLNL SGNLFSSLSQ GTFDYLASLR SLEFQTEYLL CDCNILWMHR WVKEKNITVR DTRCVYPKSL QAQPVTGVKQ ELLTCDPPLE LPSFYMTPSH RQVVFEGDSL PFQCMASYID QDMQVLWYQD GRIVETDESQ GIFVEKNMIH NCSLIASALT ISNIQAGSTG NWGCHVQTKR GNNTRTVDIV VLESSAQYCP PERVVNNKGD FRWPRTLAGI TAYLQCTRNT HGSGIYPGNP QDERKAWRRC DRGGFWADDD YSRCQYANDV TRVLYMFNQM PLNLTNAVAT ARQLLAYTVE AANFSDKMDV IFVAEMIEKF GRFTKEEKSK ELGDVMVDIA SNIMLADERV LWLAQREAKA CSRIVQCLQR IATYRLAGGA HVYSTYSPNI ALEAYVIKST GFTGMTCTVF QKVAASDRTG LSDYGRRDPE GNLDKQLSFK CNVSNTFSSL ALKNTIVEAS IQLPPSLFSP KQKRELRPTD DSLYKLQLIA FRNGKLFPAT GNSTNLADDG KRRTVVTPVI LTKIDGVNVD THHIPVNVTL RRIAHGADAV AARWDFDLLN GQGGWKSDGC HILYSDENIT TIQCYSLSNY AVLMDLTGSE LYTQAASLLH PVVYTTAIIL LLCLLAVIVS YIYHHSLIRI SLKSWHMLVN LCFHIFLTCV VFVGGITQTR NASICQAVGI ILHYSTLATV LWVGVTARNI YKQVTKKAKR CQDPDEPPPP PRPMLRFYLI GGGIPIIVCG ITAAANIKNY GSRPNAPYCW MAWEPSLGAF YGPASFITFV NCMYFLSIFI QLKRHPERKY ELKEPTEEQQ RLAANENGEI NHQDSMSLSL ISTSALENEH TFHSQLLGAS LTLLLYVALW MFGALAVSLY YPLDLVFSFV FGATSLSFSA FFVVHHCVNR EDVRLAWIMT CCPGRSSYSV QVNVQPPNSN GTNGEAPKCP NSSAESSCTN KSASSFKNSS QGCKLTNLQA AAAQCHANSL PLNSTPQLDN SLTEHSMDND IKMHVAPLEV QFRTNVHSSR HHKNRSKGHR ASRLTVLREY AYDVPTSVEG SVQNGLPKSR LGNNEGHSRS RRAYLAYRER QYNPPQQDSS DACSTLPKSS RNFEKPVSTT SKKDALRKPA VVELENQQKS YGLNLAIQNG PIKSNGQEGP LLGTDSTGNV RTGLWKHETT V* | |||||||||||||
| Mutated AA sequence | MEPPGRRRGR AQPPLLLPLS LLALLALLGG GGGGGAAALP AGCKHDGRPR GAGRAAGAAE GKVVCSSLEL AQVLPPDTLP NRTVTLILSN NKISELKNGS FSGLSLLERL DLRNNLISSI DPGAFWGLSS LKRLDLTNNR IGCLNADIFR GLTNLVRLNL SGNLFSSLSQ GTFDYLASLR SLEFQTEYLL CDCNILWMHR WVKEKNITVR DTRCVYPKSL QAQPVTGVKQ ELLTCDPPLE LPSFYMTPSH RQVVFEGDSL PFQCMASYID QDMQVLWYQD GRIVETDESQ GIFVEKNMIH NCSLIASALT ISNIQAGSTG NWGCHVQTKR GNNTRTVDIV VLESSAQYCP PERVVNNKGD FRWPRTLAGI TAYLQCTRNT HGSGIYPGNP QDERKAWRRC DRGGFWADDD YSRCQYANDV TRVLYMFNQM PLNLTNAVAT ARQLLAYTVE AANFSDKMDV IFVAEMIEKF GRFTKEEKSK ELGDVMVDIA SNIMLADERV LWLAQREAKA CSRIVQCLQR IATYRLAGGA HVYSTYSPNI ALEAYVIKST GFTGMTCTVF QKVAASDRTG LSDYGRRDPE GNLDKQLSFK CNVSNTFSSL ALKNTIVEAS IQLPPSLFSP KQKRELRPTD DSLYKLQLIA FRNGKLFPAT GNSTNLADDG KRRTVVTPVI LTKIDGVNVD THHIPVNVTL RRIAHGADAV AARWDFDLLN GQGGWKSDGC HILYSDENIT TIQCYSLSNY AVLMDLTGSE LYTQAASLLH PVVYTTAIIL LLCLLAVIVS YIYHHSLIRI SLKSWHMLVN LCFHIFLTCV VFVGGITQTR NASICQAVGI ILHYSTLATV LWVGVTARNI YKQVTKKAKR CQDPDEPPPP PRPMLRFYLI GGGIPIIVCG ITAAANIKNY GSRPNAPYCW MAWEPSLGAF YGPASFITFV NCMYFLSIFI QLKRHPERKY ELKEPTEEQQ RLAANENGEI NHQDSMSLSL ISTSALENEH TFHSQLLGAS LTLLLYVALW MFGALAVSLY YPLDLVFSFV FGATSLSFSA FFVVHHCVNR EDVRLAWIMT CCPGRSSYSV QVNVQPPNSN GTNGEAPKCP NSSAESSCTN KSASSFKNSS QGCKLTNLQA AAAQCHANSL PLNSTPQLDN SLTEHSMDND IKMHVAPLEV QFRTNVHSSR HHKNRSKGHR ASRLTVLREY AYDVPTSVEG SVQNGLPKSR LGNNEGHSRS RRAYLAYRER QYNPPQQDSS DACSTLPKSS RNFEKPVSTT SKKDALRKPA VVELENQQKS YGLNLAIQNG PIKSNGQEGP LLGTDSTGNV RTGLWKHETT V* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3966 / 3966 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1322 / 1322 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 4248 / 4248 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 283 / 283 | |||||||||||||
| Last intron/exon boundary | 3005 | |||||||||||||
| Theoretical NMD boundary in CDS | 2672 | |||||||||||||
| Length of CDS | 3966 | |||||||||||||
| Coding sequence (CDS) position | 3180 | |||||||||||||
| cDNA position | 3462 | |||||||||||||
| gDNA position | 127576 | |||||||||||||
| Chromosomal position | 22388491 | |||||||||||||
| 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