| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MUTYH | Deleterious | 60|40 | simple_ | No | Single base exchange | Normal |
| ||||||
| MUTYH | Deleterious | 60|40 | simple_ | No | Single base exchange | Normal |
| ||||||
ENST00000710952(MANE Select) | MUTYH | Deleterious | 60|40 | simple_ | No | Single base exchange | Normal |
| |||||
| MUTYH | Deleterious | 82|18 | simple_ | No | Single base exchange | Normal |
| ||||||
| MUTYH | Deleterious | 83|17 | simple_ | No | Single base exchange | Normal |
| ||||||
| MUTYH | Deleterious | 83|17 | simple_ | No | Single base exchange | Normal |
| ||||||
| MUTYH | Deleterious | 83|17 | simple_ | No | Single base exchange | Normal |
| ||||||
| MUTYH | Deleterious | 84|16 | simple_ | No | Single base exchange | Normal |
| ||||||
| MUTYH | Deleterious | 85|15 | simple_ | No | Single base exchange | Normal |
| ||||||
ENST00000456914(MANE Select) | MUTYH | Deleterious | 85|15 | simple_ | No | Single base exchange | Normal |
| |||||
| MUTYH | Deleterious | 85|15 | simple_ | No | Single base exchange | Normal |
| ||||||
| MUTYH | Deleterious | 87|13 | simple_ | No | Single base exchange | Normal |
| ||||||
| MUTYH | Deleterious | 88|12 | simple_ | No | Single base exchange | Normal |
| ||||||
| MUTYH | Deleterious | 88|12 | simple_ | No | Single base exchange | Normal |
| ||||||
| MUTYH | Deleterious | 89|11 | simple_ | No | Single base exchange | Normal |
| ||||||
| MUTYH | Deleterious | 91|9 | simple_ | No | Single base exchange | Normal |
| ||||||
| MUTYH | Deleterious | 91|9 | simple_ | No | Single base exchange | Normal |
| ||||||
| MUTYH | Deleterious | 120|80 | without_ | No | Single base exchange | N/A | |||||||
| MUTYH | Deleterious | 140|60 | without_ | No | Single base exchange | N/A | |||||||
| MUTYH | Deleterious | 140|60 | without_ | No | Single base exchange | N/A | |||||||
| MUTYH | Deleterious | 179|21 | without_ | No | Single base exchange | N/A |
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:45331756C>A (GRCh38) | |||||||||||||
| Gene symbol | MUTYH | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000713750.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1007G>T g.9138G>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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Original cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Wildtype AA sequence | MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRGRRLQE GARKVVEELG GHMPRTAETL QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD VEECAPNTGQ CHLCLPPSEP WDQTLGVVNF PRKASRKPPR EESSATCVLE QPGALGAQIL LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q* | |||||||||||||
| Mutated AA sequence | MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRGRRLQE GARKVVEELG GHMPRTAETL QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD VEECAPNTGQ CHLCLPPSEP WDQTLGVVNF PRKASLKPPR EESSATCVLE QPGALGAQIL LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1566 / 1566 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 522 / 522 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1715 / 1715 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 150 / 150 | |||||||||||||
| Last intron/exon boundary | 1583 | |||||||||||||
| Theoretical NMD boundary in CDS | 1383 | |||||||||||||
| Length of CDS | 1566 | |||||||||||||
| Coding sequence (CDS) position | 1007 | |||||||||||||
| cDNA position | 1156 | |||||||||||||
| gDNA position | 9138 | |||||||||||||
| Chromosomal position | 45331756 | |||||||||||||
| Speed | 0.09 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 | Chr1:45331756C>A (GRCh38) | |||||||||||||
| Gene symbol | MUTYH | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000713751.1 | |||||||||||||
| Genbank transcript ID | NM_001407087 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1028G>T g.9138G>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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Original cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Wildtype AA sequence | MAYKAIMRKP RAAVGSGHRK QAASQEGRQK HAKNNSQAKP SACDAGLARQ PEEVVLQASV SSYHLFRDVA EVTAFRGSLL SWYDQEKRDL PWRRRAEDEM DLDRRAYAVW VSEVMLQQTQ VATVINYYTG WMQKWPTLQD LASASLEEVN QLWAGLGYYS RGRRLQEGAR KVVEELGGHM PRTAETLQQL LPGVGRYTAG AIASIAFGQA TGVVDGNVAR VLCRVRAIGA DPSSTLVSQQ LWGLAQQLVD PARPGDFNQA AMELGATVCT PQRPLCSQCP VESLCRARQR VEQEQLLASG SLSGSPDVEE CAPNTGQCHL CLPPSEPWDQ TLGVVNFPRK ASRKPPREES SATCVLEQPG ALGAQILLVQ RPNSGLLAGL WEFPSVTWEP SEQLQRKALL QELQRWAGPL PATHLRHLGE VVHTFSHIKL TYQVYGLALE GQTPVTTVPP GARWLTQEEF HTAAVSTAMK KVFRVYQGQQ PGTCMGSKRS QVSSPCSRKK PRMGQQVLDN FFRSHISTDA HSLNSAAQ* | |||||||||||||
| Mutated AA sequence | MAYKAIMRKP RAAVGSGHRK QAASQEGRQK HAKNNSQAKP SACDAGLARQ PEEVVLQASV SSYHLFRDVA EVTAFRGSLL SWYDQEKRDL PWRRRAEDEM DLDRRAYAVW VSEVMLQQTQ VATVINYYTG WMQKWPTLQD LASASLEEVN QLWAGLGYYS RGRRLQEGAR KVVEELGGHM PRTAETLQQL LPGVGRYTAG AIASIAFGQA TGVVDGNVAR VLCRVRAIGA DPSSTLVSQQ LWGLAQQLVD PARPGDFNQA AMELGATVCT PQRPLCSQCP VESLCRARQR VEQEQLLASG SLSGSPDVEE CAPNTGQCHL CLPPSEPWDQ TLGVVNFPRK ASLKPPREES SATCVLEQPG ALGAQILLVQ RPNSGLLAGL WEFPSVTWEP SEQLQRKALL QELQRWAGPL PATHLRHLGE VVHTFSHIKL TYQVYGLALE GQTPVTTVPP GARWLTQEEF HTAAVSTAMK KVFRVYQGQQ PGTCMGSKRS QVSSPCSRKK PRMGQQVLDN FFRSHISTDA HSLNSAAQ* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1587 / 1587 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 529 / 529 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1880 / 1880 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 294 / 294 | |||||||||||||
| Last intron/exon boundary | 1748 | |||||||||||||
| Theoretical NMD boundary in CDS | 1404 | |||||||||||||
| Length of CDS | 1587 | |||||||||||||
| Coding sequence (CDS) position | 1028 | |||||||||||||
| cDNA position | 1321 | |||||||||||||
| gDNA position | 9138 | |||||||||||||
| Chromosomal position | 45331756 | |||||||||||||
| Speed | 0.10 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 | Chr1:45331756C>A (GRCh38) | |||||||||||||
| Gene symbol | MUTYH | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000710952.2 | |||||||||||||
| Genbank transcript ID | NM_001128425 (exact from MANE) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1091G>T g.9138G>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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Original cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Wildtype AA sequence | MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDACAGMIAE CPGAPAGLAR QPEEVVLQAS VSSYHLFRDV AEVTAFRGSL LSWYDQEKRD LPWRRRAEDE MDLDRRAYAV WVSEVMLQQT QVATVINYYT GWMQKWPTLQ DLASASLEEV NQLWAGLGYY SRGRRLQEGA RKVVEELGGH MPRTAETLQQ LLPGVGRYTA GAIASIAFGQ ATGVVDGNVA RVLCRVRAIG ADPSSTLVSQ QLWGLAQQLV DPARPGDFNQ AAMELGATVC TPQRPLCSQC PVESLCRARQ RVEQEQLLAS GSLSGSPDVE ECAPNTGQCH LCLPPSEPWD QTLGVVNFPR KASRKPPREE SSATCVLEQP GALGAQILLV QRPNSGLLAG LWEFPSVTWE PSEQLQRKAL LQELQRWAGP LPATHLRHLG EVVHTFSHIK LTYQVYGLAL EGQTPVTTVP PGARWLTQEE FHTAAVSTAM KKVFRVYQGQ QPGTCMGSKR SQVSSPCSRK KPRMGQQVLD NFFRSHISTD AHSLNSAAQ* | |||||||||||||
| Mutated AA sequence | MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDACAGMIAE CPGAPAGLAR QPEEVVLQAS VSSYHLFRDV AEVTAFRGSL LSWYDQEKRD LPWRRRAEDE MDLDRRAYAV WVSEVMLQQT QVATVINYYT GWMQKWPTLQ DLASASLEEV NQLWAGLGYY SRGRRLQEGA RKVVEELGGH MPRTAETLQQ LLPGVGRYTA GAIASIAFGQ ATGVVDGNVA RVLCRVRAIG ADPSSTLVSQ QLWGLAQQLV DPARPGDFNQ AAMELGATVC TPQRPLCSQC PVESLCRARQ RVEQEQLLAS GSLSGSPDVE ECAPNTGQCH LCLPPSEPWD QTLGVVNFPR KASLKPPREE SSATCVLEQP GALGAQILLV QRPNSGLLAG LWEFPSVTWE PSEQLQRKAL LQELQRWAGP LPATHLRHLG EVVHTFSHIK LTYQVYGLAL EGQTPVTTVP PGARWLTQEE FHTAAVSTAM KKVFRVYQGQ QPGTCMGSKR SQVSSPCSRK KPRMGQQVLD NFFRSHISTD AHSLNSAAQ* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1650 / 1650 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 550 / 550 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1836 / 1836 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 187 / 187 | |||||||||||||
| Last intron/exon boundary | 1704 | |||||||||||||
| Theoretical NMD boundary in CDS | 1467 | |||||||||||||
| Length of CDS | 1650 | |||||||||||||
| Coding sequence (CDS) position | 1091 | |||||||||||||
| cDNA position | 1277 | |||||||||||||
| gDNA position | 9138 | |||||||||||||
| Chromosomal position | 45331756 | |||||||||||||
| Speed | 0.10 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 | Chr1:45331756C>A (GRCh38) | |||||||||||||
| Gene symbol | MUTYH | |||||||||||||
| Gene constraints | LOEUF: 1.05, LOF (oe): 0.85, misssense (oe): 0.91, synonymous (oe): 0.85 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000448481.5 | |||||||||||||
| Genbank transcript ID | NM_001293191 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | MUTYH_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1040G>T g.9138G>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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Original cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Wildtype AA sequence | MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGM IAECPGAPAG LARQPEEVVL QASVSSYHLF RDVAEVTAFR GSLLSWYDQE KRDLPWRRRA EDEMDLDRRA YAVWVSEVML QQTQVATVIN YYTGWMQKWP TLQDLASASL EEVNQLWAGL GYYSRGRRLQ EGARKVVEEL GGHMPRTAET LQQLLPGVGR YTAGAIASIA FGQATGVVDG NVARVLCRVR AIGADPSSTL VSQQLWGLAQ QLVDPARPGD FNQAAMELGA TVCTPQRPLC SQCPVESLCR ARQRVEQEQL LASGSLSGSP DVEECAPNTG QCHLCLPPSE PWDQTLGVVN FPRKASRKPP REESSATCVL EQPGALGAQI LLVQRPNSGL LAGLWEFPSV TWEPSEQLQR KALLQELQRW AGPLPATHLR HLGEVVHTFS HIKLTYQVYG LALEGQTPVT TVPPGARWLT QEEFHTAAVS TAMKKVFRVY QGQQPGTCMG SKRSQVSSPC SRKKPRMGQQ VLDNFFRSHI STDAHSLNSA AQ* | |||||||||||||
| Mutated AA sequence | MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGM IAECPGAPAG LARQPEEVVL QASVSSYHLF RDVAEVTAFR GSLLSWYDQE KRDLPWRRRA EDEMDLDRRA YAVWVSEVML QQTQVATVIN YYTGWMQKWP TLQDLASASL EEVNQLWAGL GYYSRGRRLQ EGARKVVEEL GGHMPRTAET LQQLLPGVGR YTAGAIASIA FGQATGVVDG NVARVLCRVR AIGADPSSTL VSQQLWGLAQ QLVDPARPGD FNQAAMELGA TVCTPQRPLC SQCPVESLCR ARQRVEQEQL LASGSLSGSP DVEECAPNTG QCHLCLPPSE PWDQTLGVVN FPRKASLKPP REESSATCVL EQPGALGAQI LLVQRPNSGL LAGLWEFPSV TWEPSEQLQR KALLQELQRW AGPLPATHLR HLGEVVHTFS HIKLTYQVYG LALEGQTPVT TVPPGARWLT QEEFHTAAVS TAMKKVFRVY QGQQPGTCMG SKRSQVSSPC SRKKPRMGQQ VLDNFFRSHI STDAHSLNSA AQ* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1599 / 1599 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 533 / 533 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1642 / 1642 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 44 / 44 | |||||||||||||
| Last intron/exon boundary | 1510 | |||||||||||||
| Theoretical NMD boundary in CDS | 1416 | |||||||||||||
| Length of CDS | 1599 | |||||||||||||
| Coding sequence (CDS) position | 1040 | |||||||||||||
| cDNA position | 1083 | |||||||||||||
| gDNA position | 9138 | |||||||||||||
| Chromosomal position | 45331756 | |||||||||||||
| Speed | 0.09 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 | Chr1:45331756C>A (GRCh38) | |||||||||||||
| Gene symbol | MUTYH | |||||||||||||
| Gene constraints | LOEUF: 1.15, LOF (oe): 0.83, misssense (oe): 0.96, synonymous (oe): 0.90 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000412971.6 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.623G>T g.9138G>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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Original cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Wildtype AA sequence | MTPLVSRLSR LWEVNQLWAG LGYYSRGRRL QEGARKVVEE LGGHMPRTAE TLQQLLPGVG RYTAGAIASI AFGQATGVVD GNVARVLCRV RAIGADPSST LVSQQLWGLA QQLVDPARPG DFNQAAMELG ATVCTPQRPL CSQCPVESLC RARQRVEQEQ LLASGSLSGS PDVEECAPNT GQCHLCLPPS EPWDQTLGVV NFPRKASRKP PREESSATCV LEQPGALGAQ ILLVQRPNSG LLAGLWEFPS VTWEPSEQLQ RKALLQELQR WAGPLPATHL RHLGEVVHTF SHIKLTYQVY GLALEGQTPV TTVPPGARWL TQEEFHTAAV STAMKKVFRV YQGQQPGTCM GSKRSQVSSP CSRKKPRMGQ QVLDNFFRSH ISTDAHSLNS AAQ* | |||||||||||||
| Mutated AA sequence | MTPLVSRLSR LWEVNQLWAG LGYYSRGRRL QEGARKVVEE LGGHMPRTAE TLQQLLPGVG RYTAGAIASI AFGQATGVVD GNVARVLCRV RAIGADPSST LVSQQLWGLA QQLVDPARPG DFNQAAMELG ATVCTPQRPL CSQCPVESLC RARQRVEQEQ LLASGSLSGS PDVEECAPNT GQCHLCLPPS EPWDQTLGVV NFPRKASLKP PREESSATCV LEQPGALGAQ ILLVQRPNSG LLAGLWEFPS VTWEPSEQLQ RKALLQELQR WAGPLPATHL RHLGEVVHTF SHIKLTYQVY GLALEGQTPV TTVPPGARWL TQEEFHTAAV STAMKKVFRV YQGQQPGTCM GSKRSQVSSP CSRKKPRMGQ QVLDNFFRSH ISTDAHSLNS AAQ* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1182 / 1182 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 394 / 394 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1309 / 1309 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 128 / 128 | |||||||||||||
| Last intron/exon boundary | 1177 | |||||||||||||
| Theoretical NMD boundary in CDS | 999 | |||||||||||||
| Length of CDS | 1182 | |||||||||||||
| Coding sequence (CDS) position | 623 | |||||||||||||
| cDNA position | 750 | |||||||||||||
| gDNA position | 9138 | |||||||||||||
| Chromosomal position | 45331756 | |||||||||||||
| Speed | 0.08 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 | Chr1:45331756C>A (GRCh38) | |||||||||||||
| Gene symbol | MUTYH | |||||||||||||
| Gene constraints | LOEUF: 1.02, LOF (oe): 0.83, misssense (oe): 0.90, synonymous (oe): 0.85 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000354383.10 | |||||||||||||
| Genbank transcript ID | NM_001407071 (by similarity), NM_001407079 (by similarity), NM_001048172 (by similarity), NM_001407078 (by similarity), NM_001407086 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | MUTYH_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1010G>T g.9138G>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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Original cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Wildtype AA sequence | MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDAG LARQPEEVVL QASVSSYHLF RDVAEVTAFR GSLLSWYDQE KRDLPWRRRA EDEMDLDRRA YAVWVSEVML QQTQVATVIN YYTGWMQKWP TLQDLASASL EEVNQLWAGL GYYSRGRRLQ EGARKVVEEL GGHMPRTAET LQQLLPGVGR YTAGAIASIA FGQATGVVDG NVARVLCRVR AIGADPSSTL VSQQLWGLAQ QLVDPARPGD FNQAAMELGA TVCTPQRPLC SQCPVESLCR ARQRVEQEQL LASGSLSGSP DVEECAPNTG QCHLCLPPSE PWDQTLGVVN FPRKASRKPP REESSATCVL EQPGALGAQI LLVQRPNSGL LAGLWEFPSV TWEPSEQLQR KALLQELQRW AGPLPATHLR HLGEVVHTFS HIKLTYQVYG LALEGQTPVT TVPPGARWLT QEEFHTAAVS TAMKKVFRVY QGQQPGTCMG SKRSQVSSPC SRKKPRMGQQ VLDNFFRSHI STDAHSLNSA AQ* | |||||||||||||
| Mutated AA sequence | MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDAG LARQPEEVVL QASVSSYHLF RDVAEVTAFR GSLLSWYDQE KRDLPWRRRA EDEMDLDRRA YAVWVSEVML QQTQVATVIN YYTGWMQKWP TLQDLASASL EEVNQLWAGL GYYSRGRRLQ EGARKVVEEL GGHMPRTAET LQQLLPGVGR YTAGAIASIA FGQATGVVDG NVARVLCRVR AIGADPSSTL VSQQLWGLAQ QLVDPARPGD FNQAAMELGA TVCTPQRPLC SQCPVESLCR ARQRVEQEQL LASGSLSGSP DVEECAPNTG QCHLCLPPSE PWDQTLGVVN FPRKASLKPP REESSATCVL EQPGALGAQI LLVQRPNSGL LAGLWEFPSV TWEPSEQLQR KALLQELQRW AGPLPATHLR HLGEVVHTFS HIKLTYQVYG LALEGQTPVT TVPPGARWLT QEEFHTAAVS TAMKKVFRVY QGQQPGTCMG SKRSQVSSPC SRKKPRMGQQ VLDNFFRSHI STDAHSLNSA AQ* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1569 / 1569 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 523 / 523 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1680 / 1680 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 112 / 112 | |||||||||||||
| Last intron/exon boundary | 1548 | |||||||||||||
| Theoretical NMD boundary in CDS | 1386 | |||||||||||||
| Length of CDS | 1569 | |||||||||||||
| Coding sequence (CDS) position | 1010 | |||||||||||||
| cDNA position | 1121 | |||||||||||||
| gDNA position | 9138 | |||||||||||||
| Chromosomal position | 45331756 | |||||||||||||
| Speed | 0.08 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 | Chr1:45331756C>A (GRCh38) | |||||||||||||
| Gene symbol | MUTYH | |||||||||||||
| Gene constraints | LOEUF: 1.05, LOF (oe): 0.85, misssense (oe): 0.90, synonymous (oe): 0.86 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000528013.6 | |||||||||||||
| Genbank transcript ID | NM_001407083 (by similarity), NM_001407085 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1049G>T g.9138G>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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Original cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Wildtype AA sequence | MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDAC AGMIAECPGA PAGLARQPEE VVLQASVSSY HLFRDVAEVT AFRGSLLSWY DQEKRDLPWR RRAEDEMDLD RRAYAVWVSE VMLQQTQVAT VINYYTGWMQ KWPTLQDLAS ASLEEVNQLW AGLGYYSRGR RLQEGARKVV EELGGHMPRT AETLQQLLPG VGRYTAGAIA SIAFGQATGV VDGNVARVLC RVRAIGADPS STLVSQQLWG LAQQLVDPAR PGDFNQAAME LGATVCTPQR PLCSQCPVES LCRARQRVEQ EQLLASGSLS GSPDVEECAP NTGQCHLCLP PSEPWDQTLG VVNFPRKASR KPPREESSAT CVLEQPGALG AQILLVQRPN SGLLAGLWEF PSVTWEPSEQ LQRKALLQEL QRWAGPLPAT HLRHLGEVVH TFSHIKLTYQ VYGLALEGQT PVTTVPPGAR WLTQEEFHTA AVSTAMKKVF RVYQGQQPGT CMGSKRSQVS SPCSRKKPRM GQQVLDNFFR SHISTDAHSL NSAAQ* | |||||||||||||
| Mutated AA sequence | MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDAC AGMIAECPGA PAGLARQPEE VVLQASVSSY HLFRDVAEVT AFRGSLLSWY DQEKRDLPWR RRAEDEMDLD RRAYAVWVSE VMLQQTQVAT VINYYTGWMQ KWPTLQDLAS ASLEEVNQLW AGLGYYSRGR RLQEGARKVV EELGGHMPRT AETLQQLLPG VGRYTAGAIA SIAFGQATGV VDGNVARVLC RVRAIGADPS STLVSQQLWG LAQQLVDPAR PGDFNQAAME LGATVCTPQR PLCSQCPVES LCRARQRVEQ EQLLASGSLS GSPDVEECAP NTGQCHLCLP PSEPWDQTLG VVNFPRKASL KPPREESSAT CVLEQPGALG AQILLVQRPN SGLLAGLWEF PSVTWEPSEQ LQRKALLQEL QRWAGPLPAT HLRHLGEVVH TFSHIKLTYQ VYGLALEGQT PVTTVPPGAR WLTQEEFHTA AVSTAMKKVF RVYQGQQPGT CMGSKRSQVS SPCSRKKPRM GQQVLDNFFR SHISTDAHSL NSAAQ* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1608 / 1608 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 536 / 536 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1662 / 1662 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 55 / 55 | |||||||||||||
| Last intron/exon boundary | 1530 | |||||||||||||
| Theoretical NMD boundary in CDS | 1425 | |||||||||||||
| Length of CDS | 1608 | |||||||||||||
| Coding sequence (CDS) position | 1049 | |||||||||||||
| cDNA position | 1103 | |||||||||||||
| gDNA position | 9138 | |||||||||||||
| Chromosomal position | 45331756 | |||||||||||||
| Speed | 0.07 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 | Chr1:45331756C>A (GRCh38) | |||||||||||||
| Gene symbol | MUTYH | |||||||||||||
| Gene constraints | LOEUF: 1.09, LOF (oe): 0.84, misssense (oe): 0.87, synonymous (oe): 0.86 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000435155.2 | |||||||||||||
| Genbank transcript ID | NM_001407077 (by similarity), NM_001407075 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | MUTYH_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1040G>T g.9138G>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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Original cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Wildtype AA sequence | MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGM IAECPGAPAG LARQPEEVVL QASVSSYHLF RDVAEVTAFR GSLLSWYDQE KRDLPWRRRA EDEMDLDRRA YAVWVSEVML QQTQVATVIN YYTGWMQKWP TLQDLASASL EEVNQLWAGL GYYSRGRRLQ EGARKVVEEL GGHMPRTAET LQQLLPGVGR YTAGAIASIA FGQATGVVDG NVARVLCRVR AIGADPSSTL VSQQLWGLAQ QLVDPARPGD FNQAAMELGA TVCTPQRPLC SQCPVESLCR ARQRVEQEQL LASGSLSGSP DVEECAPNTG QCHLCLPPSE PWDQTLGVVN FPRKASRKPP REESSATCVL EQPGALGAQI LLVQRPNSGL LAGLWEFPSV TWEPSEQLQR KALLQELQRW AGPLPATHLR HLGEVVHTFS HIKLTYQVYG LALEGQTPVT TVPPGARWLT QEEFHTAAVS TAMKKVFRVY QGQQPGTCMG SKRSQVSSPC SRKKPRMGQQ VLDNFFRSHI STDAHSLNSA AQ* | |||||||||||||
| Mutated AA sequence | MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGM IAECPGAPAG LARQPEEVVL QASVSSYHLF RDVAEVTAFR GSLLSWYDQE KRDLPWRRRA EDEMDLDRRA YAVWVSEVML QQTQVATVIN YYTGWMQKWP TLQDLASASL EEVNQLWAGL GYYSRGRRLQ EGARKVVEEL GGHMPRTAET LQQLLPGVGR YTAGAIASIA FGQATGVVDG NVARVLCRVR AIGADPSSTL VSQQLWGLAQ QLVDPARPGD FNQAAMELGA TVCTPQRPLC SQCPVESLCR ARQRVEQEQL LASGSLSGSP DVEECAPNTG QCHLCLPPSE PWDQTLGVVN FPRKASLKPP REESSATCVL EQPGALGAQI LLVQRPNSGL LAGLWEFPSV TWEPSEQLQR KALLQELQRW AGPLPATHLR HLGEVVHTFS HIKLTYQVYG LALEGQTPVT TVPPGARWLT QEEFHTAAVS TAMKKVFRVY QGQQPGTCMG SKRSQVSSPC SRKKPRMGQQ VLDNFFRSHI STDAHSLNSA AQ* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1599 / 1599 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 533 / 533 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1750 / 1750 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 152 / 152 | |||||||||||||
| Last intron/exon boundary | 1618 | |||||||||||||
| Theoretical NMD boundary in CDS | 1416 | |||||||||||||
| Length of CDS | 1599 | |||||||||||||
| Coding sequence (CDS) position | 1040 | |||||||||||||
| cDNA position | 1191 | |||||||||||||
| gDNA position | 9138 | |||||||||||||
| Chromosomal position | 45331756 | |||||||||||||
| Speed | 0.09 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 | Chr1:45331756C>A (GRCh38) | |||||||||||||
| Gene symbol | MUTYH | |||||||||||||
| Gene constraints | LOEUF: 1.02, LOF (oe): 0.83, misssense (oe): 0.90, synonymous (oe): 0.84 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000372104.5 | |||||||||||||
| Genbank transcript ID | NM_001293195 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | MUTYH_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1007G>T g.9138G>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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Original cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Wildtype AA sequence | MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRGRRLQE GARKVVEELG GHMPRTAETL QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD VEECAPNTGQ CHLCLPPSEP WDQTLGVVNF PRKASRKPPR EESSATCVLE QPGALGAQIL LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q* | |||||||||||||
| Mutated AA sequence | MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRGRRLQE GARKVVEELG GHMPRTAETL QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD VEECAPNTGQ CHLCLPPSEP WDQTLGVVNF PRKASLKPPR EESSATCVLE QPGALGAQIL LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1566 / 1566 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 522 / 522 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1759 / 1759 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 194 / 194 | |||||||||||||
| Last intron/exon boundary | 1627 | |||||||||||||
| Theoretical NMD boundary in CDS | 1383 | |||||||||||||
| Length of CDS | 1566 | |||||||||||||
| Coding sequence (CDS) position | 1007 | |||||||||||||
| cDNA position | 1200 | |||||||||||||
| gDNA position | 9138 | |||||||||||||
| Chromosomal position | 45331756 | |||||||||||||
| Speed | 0.10 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 | Chr1:45331756C>A (GRCh38) | |||||||||||||
| Gene symbol | MUTYH | |||||||||||||
| Gene constraints | LOEUF: 1.02, LOF (oe): 0.83, misssense (oe): 0.90, synonymous (oe): 0.84 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000456914.7 | |||||||||||||
| Genbank transcript ID | NM_001048174 (exact from MANE), NM_001407091 (by similarity), NM_001407088 (by similarity), NM_001407089 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | MUTYH_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1007G>T g.9138G>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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Original cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Wildtype AA sequence | MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRGRRLQE GARKVVEELG GHMPRTAETL QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD VEECAPNTGQ CHLCLPPSEP WDQTLGVVNF PRKASRKPPR EESSATCVLE QPGALGAQIL LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q* | |||||||||||||
| Mutated AA sequence | MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRGRRLQE GARKVVEELG GHMPRTAETL QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD VEECAPNTGQ CHLCLPPSEP WDQTLGVVNF PRKASLKPPR EESSATCVLE QPGALGAQIL LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1566 / 1566 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 522 / 522 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1644 / 1644 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 79 / 79 | |||||||||||||
| Last intron/exon boundary | 1512 | |||||||||||||
| Theoretical NMD boundary in CDS | 1383 | |||||||||||||
| Length of CDS | 1566 | |||||||||||||
| Coding sequence (CDS) position | 1007 | |||||||||||||
| cDNA position | 1085 | |||||||||||||
| gDNA position | 9138 | |||||||||||||
| Chromosomal position | 45331756 | |||||||||||||
| Speed | 0.07 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 | Chr1:45331756C>A (GRCh38) | |||||||||||||
| Gene symbol | MUTYH | |||||||||||||
| Gene constraints | LOEUF: 1.02, LOF (oe): 0.83, misssense (oe): 0.90, synonymous (oe): 0.84 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000355498.6 | |||||||||||||
| Genbank transcript ID | NM_001407072 (by similarity), NM_001350651 (by similarity), NM_001293192 (by similarity), NM_001350650 (by similarity), NM_001048171 (by similarity), NM_001407070 (by similarity), NM_001407082 (by similarity), NM_001293196 (by similarity), NM_001407080 (by similarity), NM_001048173 (by similarity), NM_001407081 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | MUTYH_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1007G>T g.9138G>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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Original cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Wildtype AA sequence | MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRGRRLQE GARKVVEELG GHMPRTAETL QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD VEECAPNTGQ CHLCLPPSEP WDQTLGVVNF PRKASRKPPR EESSATCVLE QPGALGAQIL LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q* | |||||||||||||
| Mutated AA sequence | MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRGRRLQE GARKVVEELG GHMPRTAETL QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD VEECAPNTGQ CHLCLPPSEP WDQTLGVVNF PRKASLKPPR EESSATCVLE QPGALGAQIL LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1566 / 1566 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 522 / 522 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1712 / 1712 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 147 / 147 | |||||||||||||
| Last intron/exon boundary | 1580 | |||||||||||||
| Theoretical NMD boundary in CDS | 1383 | |||||||||||||
| Length of CDS | 1566 | |||||||||||||
| Coding sequence (CDS) position | 1007 | |||||||||||||
| cDNA position | 1153 | |||||||||||||
| gDNA position | 9138 | |||||||||||||
| Chromosomal position | 45331756 | |||||||||||||
| Speed | 0.08 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 | Chr1:45331756C>A (GRCh38) | |||||||||||||
| Gene symbol | MUTYH | |||||||||||||
| Gene constraints | LOEUF: 1.00, LOF (oe): 0.82, misssense (oe): 0.91, synonymous (oe): 0.85 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000372110.7 | |||||||||||||
| Genbank transcript ID | NM_001293190 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | MUTYH_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1052G>T g.9138G>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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Original cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Wildtype AA sequence | MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDAGLARQPE EVVLQASVSS YHLFRDVAEV TAFRGSLLSW YDQEKRDLPW RRRAEDEMDL DRRAYAVWVS EVMLQQTQVA TVINYYTGWM QKWPTLQDLA SASLEEVNQL WAGLGYYSRG RRLQEGARKV VEELGGHMPR TAETLQQLLP GVGRYTAGAI ASIAFGQATG VVDGNVARVL CRVRAIGADP SSTLVSQQLW GLAQQLVDPA RPGDFNQAAM ELGATVCTPQ RPLCSQCPVE SLCRARQRVE QEQLLASGSL SGSPDVEECA PNTGQCHLCL PPSEPWDQTL GVVNFPRKAS RKPPREESSA TCVLEQPGAL GAQILLVQRP NSGLLAGLWE FPSVTWEPSE QLQRKALLQE LQRWAGPLPA THLRHLGEVV HTFSHIKLTY QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT AAVSTAMKKV FRVYQGQQPG TCMGSKRSQV SSPCSRKKPR MGQQVLDNFF RSHISTDAHS LNSAAQ* | |||||||||||||
| Mutated AA sequence | MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDAGLARQPE EVVLQASVSS YHLFRDVAEV TAFRGSLLSW YDQEKRDLPW RRRAEDEMDL DRRAYAVWVS EVMLQQTQVA TVINYYTGWM QKWPTLQDLA SASLEEVNQL WAGLGYYSRG RRLQEGARKV VEELGGHMPR TAETLQQLLP GVGRYTAGAI ASIAFGQATG VVDGNVARVL CRVRAIGADP SSTLVSQQLW GLAQQLVDPA RPGDFNQAAM ELGATVCTPQ RPLCSQCPVE SLCRARQRVE QEQLLASGSL SGSPDVEECA PNTGQCHLCL PPSEPWDQTL GVVNFPRKAS LKPPREESSA TCVLEQPGAL GAQILLVQRP NSGLLAGLWE FPSVTWEPSE QLQRKALLQE LQRWAGPLPA THLRHLGEVV HTFSHIKLTY QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT AAVSTAMKKV FRVYQGQQPG TCMGSKRSQV SSPCSRKKPR MGQQVLDNFF RSHISTDAHS LNSAAQ* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1611 / 1611 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 537 / 537 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1745 / 1745 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 135 / 135 | |||||||||||||
| Last intron/exon boundary | 1613 | |||||||||||||
| Theoretical NMD boundary in CDS | 1428 | |||||||||||||
| Length of CDS | 1611 | |||||||||||||
| Coding sequence (CDS) position | 1052 | |||||||||||||
| cDNA position | 1186 | |||||||||||||
| gDNA position | 9138 | |||||||||||||
| Chromosomal position | 45331756 | |||||||||||||
| Speed | 0.07 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 | Chr1:45331756C>A (GRCh38) | |||||||||||||
| Gene symbol | MUTYH | |||||||||||||
| Gene constraints | LOEUF: 1.03, LOF (oe): 0.84, misssense (oe): 0.91, synonymous (oe): 0.85 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000372098.7 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | MUTYH_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1082G>T g.9138G>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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Original cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Wildtype AA sequence | MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGMIAECPG APAGLARQPE EVVLQASVSS YHLFRDVAEV TAFRGSLLSW YDQEKRDLPW RRRAEDEMDL DRRAYAVWVS EVMLQQTQVA TVINYYTGWM QKWPTLQDLA SASLEEVNQL WAGLGYYSRG RRLQEGARKV VEELGGHMPR TAETLQQLLP GVGRYTAGAI ASIAFGQATG VVDGNVARVL CRVRAIGADP SSTLVSQQLW GLAQQLVDPA RPGDFNQAAM ELGATVCTPQ RPLCSQCPVE SLCRARQRVE QEQLLASGSL SGSPDVEECA PNTGQCHLCL PPSEPWDQTL GVVNFPRKAS RKPPREESSA TCVLEQPGAL GAQILLVQRP NSGLLAGLWE FPSVTWEPSE QLQRKALLQE LQRWAGPLPA THLRHLGEVV HTFSHIKLTY QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT AAVSTAMKKV FRVYQGQQPG TCMGSKRSQV SSPCSRKKPR MGQQVLDNFF RSHISTDAHS LNSAAQ* | |||||||||||||
| Mutated AA sequence | MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGMIAECPG APAGLARQPE EVVLQASVSS YHLFRDVAEV TAFRGSLLSW YDQEKRDLPW RRRAEDEMDL DRRAYAVWVS EVMLQQTQVA TVINYYTGWM QKWPTLQDLA SASLEEVNQL WAGLGYYSRG RRLQEGARKV VEELGGHMPR TAETLQQLLP GVGRYTAGAI ASIAFGQATG VVDGNVARVL CRVRAIGADP SSTLVSQQLW GLAQQLVDPA RPGDFNQAAM ELGATVCTPQ RPLCSQCPVE SLCRARQRVE QEQLLASGSL SGSPDVEECA PNTGQCHLCL PPSEPWDQTL GVVNFPRKAS LKPPREESSA TCVLEQPGAL GAQILLVQRP NSGLLAGLWE FPSVTWEPSE QLQRKALLQE LQRWAGPLPA THLRHLGEVV HTFSHIKLTY QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT AAVSTAMKKV FRVYQGQQPG TCMGSKRSQV SSPCSRKKPR MGQQVLDNFF RSHISTDAHS LNSAAQ* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1641 / 1641 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 547 / 547 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1775 / 1775 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 135 / 135 | |||||||||||||
| Last intron/exon boundary | 1643 | |||||||||||||
| Theoretical NMD boundary in CDS | 1458 | |||||||||||||
| Length of CDS | 1641 | |||||||||||||
| Coding sequence (CDS) position | 1082 | |||||||||||||
| cDNA position | 1216 | |||||||||||||
| gDNA position | 9138 | |||||||||||||
| Chromosomal position | 45331756 | |||||||||||||
| Speed | 0.09 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 | Chr1:45331756C>A (GRCh38) | |||||||||||||
| Gene symbol | MUTYH | |||||||||||||
| Gene constraints | LOEUF: 1.03, LOF (oe): 0.84, misssense (oe): 0.91, synonymous (oe): 0.85 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000672818.3 | |||||||||||||
| Genbank transcript ID | NM_001407069 (by similarity), NM_012222 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | MUTYH_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1082G>T g.9138G>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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Original cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Wildtype AA sequence | MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGMIAECPG APAGLARQPE EVVLQASVSS YHLFRDVAEV TAFRGSLLSW YDQEKRDLPW RRRAEDEMDL DRRAYAVWVS EVMLQQTQVA TVINYYTGWM QKWPTLQDLA SASLEEVNQL WAGLGYYSRG RRLQEGARKV VEELGGHMPR TAETLQQLLP GVGRYTAGAI ASIAFGQATG VVDGNVARVL CRVRAIGADP SSTLVSQQLW GLAQQLVDPA RPGDFNQAAM ELGATVCTPQ RPLCSQCPVE SLCRARQRVE QEQLLASGSL SGSPDVEECA PNTGQCHLCL PPSEPWDQTL GVVNFPRKAS RKPPREESSA TCVLEQPGAL GAQILLVQRP NSGLLAGLWE FPSVTWEPSE QLQRKALLQE LQRWAGPLPA THLRHLGEVV HTFSHIKLTY QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT AAVSTAMKKV FRVYQGQQPG TCMGSKRSQV SSPCSRKKPR MGQQVLDNFF RSHISTDAHS LNSAAQ* | |||||||||||||
| Mutated AA sequence | MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGMIAECPG APAGLARQPE EVVLQASVSS YHLFRDVAEV TAFRGSLLSW YDQEKRDLPW RRRAEDEMDL DRRAYAVWVS EVMLQQTQVA TVINYYTGWM QKWPTLQDLA SASLEEVNQL WAGLGYYSRG RRLQEGARKV VEELGGHMPR TAETLQQLLP GVGRYTAGAI ASIAFGQATG VVDGNVARVL CRVRAIGADP SSTLVSQQLW GLAQQLVDPA RPGDFNQAAM ELGATVCTPQ RPLCSQCPVE SLCRARQRVE QEQLLASGSL SGSPDVEECA PNTGQCHLCL PPSEPWDQTL GVVNFPRKAS LKPPREESSA TCVLEQPGAL GAQILLVQRP NSGLLAGLWE FPSVTWEPSE QLQRKALLQE LQRWAGPLPA THLRHLGEVV HTFSHIKLTY QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT AAVSTAMKKV FRVYQGQQPG TCMGSKRSQV SSPCSRKKPR MGQQVLDNFF RSHISTDAHS LNSAAQ* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1641 / 1641 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 547 / 547 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1827 / 1827 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 187 / 187 | |||||||||||||
| Last intron/exon boundary | 1695 | |||||||||||||
| Theoretical NMD boundary in CDS | 1458 | |||||||||||||
| Length of CDS | 1641 | |||||||||||||
| Coding sequence (CDS) position | 1082 | |||||||||||||
| cDNA position | 1268 | |||||||||||||
| gDNA position | 9138 | |||||||||||||
| Chromosomal position | 45331756 | |||||||||||||
| Speed | 0.08 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 | Chr1:45331756C>A (GRCh38) | |||||||||||||
| Gene symbol | MUTYH | |||||||||||||
| Gene constraints | LOEUF: 1.01, LOF (oe): 0.82, misssense (oe): 0.91, synonymous (oe): 0.84 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000372115.7 | |||||||||||||
| Genbank transcript ID | NM_001407073 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | MUTYH_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1049G>T g.9138G>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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Original cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Wildtype AA sequence | MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGLARQPEE VVLQASVSSY HLFRDVAEVT AFRGSLLSWY DQEKRDLPWR RRAEDEMDLD RRAYAVWVSE VMLQQTQVAT VINYYTGWMQ KWPTLQDLAS ASLEEVNQLW AGLGYYSRGR RLQEGARKVV EELGGHMPRT AETLQQLLPG VGRYTAGAIA SIAFGQATGV VDGNVARVLC RVRAIGADPS STLVSQQLWG LAQQLVDPAR PGDFNQAAME LGATVCTPQR PLCSQCPVES LCRARQRVEQ EQLLASGSLS GSPDVEECAP NTGQCHLCLP PSEPWDQTLG VVNFPRKASR KPPREESSAT CVLEQPGALG AQILLVQRPN SGLLAGLWEF PSVTWEPSEQ LQRKALLQEL QRWAGPLPAT HLRHLGEVVH TFSHIKLTYQ VYGLALEGQT PVTTVPPGAR WLTQEEFHTA AVSTAMKKVF RVYQGQQPGT CMGSKRSQVS SPCSRKKPRM GQQVLDNFFR SHISTDAHSL NSAAQ* | |||||||||||||
| Mutated AA sequence | MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGLARQPEE VVLQASVSSY HLFRDVAEVT AFRGSLLSWY DQEKRDLPWR RRAEDEMDLD RRAYAVWVSE VMLQQTQVAT VINYYTGWMQ KWPTLQDLAS ASLEEVNQLW AGLGYYSRGR RLQEGARKVV EELGGHMPRT AETLQQLLPG VGRYTAGAIA SIAFGQATGV VDGNVARVLC RVRAIGADPS STLVSQQLWG LAQQLVDPAR PGDFNQAAME LGATVCTPQR PLCSQCPVES LCRARQRVEQ EQLLASGSLS GSPDVEECAP NTGQCHLCLP PSEPWDQTLG VVNFPRKASL KPPREESSAT CVLEQPGALG AQILLVQRPN SGLLAGLWEF PSVTWEPSEQ LQRKALLQEL QRWAGPLPAT HLRHLGEVVH TFSHIKLTYQ VYGLALEGQT PVTTVPPGAR WLTQEEFHTA AVSTAMKKVF RVYQGQQPGT CMGSKRSQVS SPCSRKKPRM GQQVLDNFFR SHISTDAHSL NSAAQ* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1608 / 1608 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 536 / 536 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1824 / 1824 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 217 / 217 | |||||||||||||
| Last intron/exon boundary | 1692 | |||||||||||||
| Theoretical NMD boundary in CDS | 1425 | |||||||||||||
| Length of CDS | 1608 | |||||||||||||
| Coding sequence (CDS) position | 1049 | |||||||||||||
| cDNA position | 1265 | |||||||||||||
| gDNA position | 9138 | |||||||||||||
| Chromosomal position | 45331756 | |||||||||||||
| Speed | 0.08 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 | Chr1:45331756C>A (GRCh38) | |||||||||||||
| Gene symbol | MUTYH | |||||||||||||
| Gene constraints | LOEUF: 1.20, LOF (oe): 0.66, misssense (oe): 0.82, synonymous (oe): 0.83 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000483127.2 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1025G>T g.9138G>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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Original cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Wildtype AA sequence | MAYKAIMRKP RAAVGSGHRK QAASQEGRQK HAKNNSQAKP SACDGLARQP EEVVLQASVS SYHLFRDVAE VTAFRGSLLS WYDQEKRDLP WRRRAEDEMD LDRRAYAVWV SEVMLQQTQV ATVINYYTGW MQKWPTLQDL ASASLEEVNQ LWAGLGYYSR GRRLQEGARK VVEELGGHMP RTAETLQQLL PGVGRYTAGA IASIAFGQAT GVVDGNVARV LCRVRAIGAD PSSTLVSQQL WGLAQQLVDP ARPGDFNQAA MELGATVCTP QRPLCSQCPV ESLCRARQRV EQEQLLASGS LSGSPDVEEC APNTGQCHLC LPPSEPWDQT LGVVNFPRKA SRKPPREESS ATCVLEQPGA LGAQILLVQR PNSGLLAGLW EFPSVTWEPS EQLQRKALLQ ELQRWAGPLP ATHLRHLGEV VHTFSHIKLT YQVYGLALEG QTPVTTVPPG ARWLTQEEFH TAAVSTAMKK VFRVYQGQQP GTCMGSKRSQ VSSPCSRKKP RMGQQVLDNF FRSHISTDAH SLNSAAQ* | |||||||||||||
| Mutated AA sequence | MAYKAIMRKP RAAVGSGHRK QAASQEGRQK HAKNNSQAKP SACDGLARQP EEVVLQASVS SYHLFRDVAE VTAFRGSLLS WYDQEKRDLP WRRRAEDEMD LDRRAYAVWV SEVMLQQTQV ATVINYYTGW MQKWPTLQDL ASASLEEVNQ LWAGLGYYSR GRRLQEGARK VVEELGGHMP RTAETLQQLL PGVGRYTAGA IASIAFGQAT GVVDGNVARV LCRVRAIGAD PSSTLVSQQL WGLAQQLVDP ARPGDFNQAA MELGATVCTP QRPLCSQCPV ESLCRARQRV EQEQLLASGS LSGSPDVEEC APNTGQCHLC LPPSEPWDQT LGVVNFPRKA SLKPPREESS ATCVLEQPGA LGAQILLVQR PNSGLLAGLW EFPSVTWEPS EQLQRKALLQ ELQRWAGPLP ATHLRHLGEV VHTFSHIKLT YQVYGLALEG QTPVTTVPPG ARWLTQEEFH TAAVSTAMKK VFRVYQGQQP GTCMGSKRSQ VSSPCSRKKP RMGQQVLDNF FRSHISTDAH SLNSAAQ* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1584 / 1584 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 528 / 528 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2090 / 2090 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 507 / 507 | |||||||||||||
| Last intron/exon boundary | 1958 | |||||||||||||
| Theoretical NMD boundary in CDS | 1401 | |||||||||||||
| Length of CDS | 1584 | |||||||||||||
| Coding sequence (CDS) position | 1025 | |||||||||||||
| cDNA position | 1531 | |||||||||||||
| gDNA position | 9138 | |||||||||||||
| Chromosomal position | 45331756 | |||||||||||||
| Speed | 0.08 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 | Chr1:45331756C>A (GRCh38) | |||||||||||||
| Gene symbol | MUTYH | |||||||||||||
| Gene constraints | LOEUF: 0.98, LOF (oe): 0.79, misssense (oe): 0.88, synonymous (oe): 0.83 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000672314.2 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | MUTYH_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1007G>T g.9138G>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 | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Original cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered cDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Wildtype AA sequence | MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRGRRLQE GARKVVEELG GHMPRTAETL QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD VEECAPNTGQ CHLCLPPSEP WDQTLGVVNF PRKASRKPPR EESSATCVLE QPGALGAQIL LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q* | |||||||||||||
| Mutated AA sequence | MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGL ARQPEEVVLQ ASVSSYHLFR DVAEVTAFRG SLLSWYDQEK RDLPWRRRAE DEMDLDRRAY AVWVSEVMLQ QTQVATVINY YTGWMQKWPT LQDLASASLE EVNQLWAGLG YYSRGRRLQE GARKVVEELG GHMPRTAETL QQLLPGVGRY TAGAIASIAF GQATGVVDGN VARVLCRVRA IGADPSSTLV SQQLWGLAQQ LVDPARPGDF NQAAMELGAT VCTPQRPLCS QCPVESLCRA RQRVEQEQLL ASGSLSGSPD VEECAPNTGQ CHLCLPPSEP WDQTLGVVNF PRKASLKPPR EESSATCVLE QPGALGAQIL LVQRPNSGLL AGLWEFPSVT WEPSEQLQRK ALLQELQRWA GPLPATHLRH LGEVVHTFSH IKLTYQVYGL ALEGQTPVTT VPPGARWLTQ EEFHTAAVST AMKKVFRVYQ GQQPGTCMGS KRSQVSSPCS RKKPRMGQQV LDNFFRSHIS TDAHSLNSAA Q* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1566 / 1566 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 522 / 522 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2696 / 2696 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1131 / 1131 | |||||||||||||
| Last intron/exon boundary | 2564 | |||||||||||||
| Theoretical NMD boundary in CDS | 1383 | |||||||||||||
| Length of CDS | 1566 | |||||||||||||
| Coding sequence (CDS) position | 1007 | |||||||||||||
| cDNA position | 2137 | |||||||||||||
| gDNA position | 9138 | |||||||||||||
| Chromosomal position | 45331756 | |||||||||||||
| Speed | 0.07 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 | Chr1:45331756C>A (GRCh38) | |||||||||||||
| Gene symbol | MUTYH | |||||||||||||
| Gene constraints | LOEUF: 1.19, LOF (oe): 0.83, misssense (oe): 0.96, synonymous (oe): 0.91 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000529892.6 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.956-200G>T g.9138G>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 | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MTPLVSRLSR LWAIMRKPRA AVGSGHRKQA ASQEGRQKHA KNNSQAKPSA CDGLARQPEE VVLQASVSSY HLFRDVAEVT AFRGSLLSWY DQEKRDLPWR RRAEDEMDLD RRAYAVWVSE VMLQQTQVAT VINYYTGWMQ KWPTLQDLAS ASLEEVNQLW AGLGYYSRGR RLQEGARKVV EELGGHMPRT AETLQQLLPG VGRYTAGAIA SIAFGQATGV VDGNVARVLC RVRAIGADPS STLVSQQLWG LAQQLVDPAR PGDFNQAAME LGATVCTPQR PLCSQCPVES LCRARQRVEQ EQLLASGSLS GSPDVEECGL LAGLWEFPSV TWEPSEQLQR KALLQELQRW AGPLPATHLR HLGEVVHTFS HIKLTYQVYG LALEGQTPVT TVPPGARWLT QEEFHTAAVS TAMKKVFRVY QGQQPGTCMG SKRSQVSSPC SRKKPRMGQQ VLDNFFRSHI STDAHSLNSA AQ* | |||||||||||||
| 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 | 162 / 162 | |||||||||||||
| Last intron/exon boundary | 1448 | |||||||||||||
| Theoretical NMD boundary in CDS | 1236 | |||||||||||||
| Length of CDS | 1419 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 9138 | |||||||||||||
| Chromosomal position | 45331756 | |||||||||||||
| 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 | Chr1:45331756C>A (GRCh38) | |||||||||||||
| Gene symbol | MUTYH | |||||||||||||
| Gene constraints | LOEUF: 1.18, LOF (oe): 0.83, misssense (oe): 0.97, synonymous (oe): 0.87 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000529984.5 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.188-200G>T g.9138G>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 | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGG ESTLGWPGLL FSWPAAAGGS SEGLLAGLWE FPSVTWEPSE QLQRKALLQE LQRWAGPLPA THLRHLGEVV HTFSHIKLTY QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT AAVSTAMKKV FRVYQGQQPG TCMGSKRSQV SSPCSRKKPR MGQQVLDNFF RSHISTDAHS LNSAAQ* | |||||||||||||
| 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 | 236 / 236 | |||||||||||||
| Last intron/exon boundary | 754 | |||||||||||||
| Theoretical NMD boundary in CDS | 468 | |||||||||||||
| Length of CDS | 651 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 9138 | |||||||||||||
| Chromosomal position | 45331756 | |||||||||||||
| 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 | Chr1:45331756C>A (GRCh38) | |||||||||||||
| Gene symbol | MUTYH | |||||||||||||
| Gene constraints | LOEUF: 1.18, LOF (oe): 0.83, misssense (oe): 0.97, synonymous (oe): 0.87 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000488731.6 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.188-200G>T g.9138G>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 | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGG ESTLGWPGLL FSWPAAAGGS SEGLLAGLWE FPSVTWEPSE QLQRKALLQE LQRWAGPLPA THLRHLGEVV HTFSHIKLTY QVYGLALEGQ TPVTTVPPGA RWLTQEEFHT AAVSTAMKKV FRVYQGQQPG TCMGSKRSQV SSPCSRKKPR MGQQVLDNFF RSHISTDAHS LNSAAQ* | |||||||||||||
| 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 | 27 / 27 | |||||||||||||
| Last intron/exon boundary | 545 | |||||||||||||
| Theoretical NMD boundary in CDS | 468 | |||||||||||||
| Length of CDS | 651 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 9138 | |||||||||||||
| Chromosomal position | 45331756 | |||||||||||||
| Speed | 0.01 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 | Chr1:45331756C>A (GRCh38) | |||||||||||||
| Gene symbol | MUTYH | |||||||||||||
| Gene constraints | LOEUF: 1.52, LOF (oe): 0.74, misssense (oe): 0.84, synonymous (oe): 0.89 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000531105.5 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.116-2319G>T g.9138G>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 | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCGCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Altered gDNA sequence snippet | CTTCCCCAGAAAGGCCAGCCTCAAGCCCCCCAGGGAGGAGA | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MRKPRAAVGS GHRKQAASQE GRQKHAKNNS QAKPSACDGF QKVPGVLSVQ SEKAPHGPAS PG* | |||||||||||||
| 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 | 195 / 195 | |||||||||||||
| Last intron/exon boundary | 309 | |||||||||||||
| Theoretical NMD boundary in CDS | 64 | |||||||||||||
| Length of CDS | 189 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 9138 | |||||||||||||
| Chromosomal position | 45331756 | |||||||||||||
| Speed | 0.01 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