| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000453321(MANE Select) | TMEM67 | Deleterious | 76|24 | simple_ | No | Single base exchange | Normal |
| |||||
| TMEM67 | Deleterious | 91|9 | simple_ | No | Single base exchange | Normal |
| ||||||
| TMEM67 | Deleterious | 95|5 | simple_ | No | Single base exchange | Normal |
| ||||||
| TMEM67 | Deleterious | 96|4 | simple_ | No | Single base exchange | Normal |
| ||||||
| TMEM67 | Deleterious | 96|4 | simple_ | No | Single base exchange | Normal |
| ||||||
| TMEM67 | Deleterious | 97|3 | simple_ | No | Single base exchange | Normal |
| ||||||
| TMEM67 | Deleterious | 97|3 | simple_ | No | Single base exchange | Normal |
| ||||||
| TMEM67 | Deleterious | 97|3 | simple_ | No | Single base exchange | Normal |
| ||||||
| TMEM67 | Deleterious | 101|99 | without_ | No | Single base exchange | N/A |
|
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr8:93786243C>G (GRCh38) | ||||||||||||||||
| Gene symbol | TMEM67 | ||||||||||||||||
| Gene constraints | LOEUF: 1.08, LOF (oe): 0.87, misssense (oe): 0.88, synonymous (oe): 0.92 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000453321.8 | ||||||||||||||||
| Genbank transcript ID | NM_153704 (exact from MANE) | ||||||||||||||||
| UniProt / AlphaMissense peptide | MKS3_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.1309C>G g.31400C>G | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | 21 | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 8 | ||||||||||||||||
| Strand | 1 | ||||||||||||||||
| Original gDNA sequence snippet | ACAGCAACTCTGGAAAGTGGCTTCTAACTCGGCGCATTTTC | ||||||||||||||||
| Altered gDNA sequence snippet | ACAGCAACTCTGGAAAGTGGGTTCTAACTCGGCGCATTTTC | ||||||||||||||||
| Original cDNA sequence snippet | ACAGCAACTCTGGAAAGTGGCTTCTAACTCGGCGCATTTTC | ||||||||||||||||
| Altered cDNA sequence snippet | ACAGCAACTCTGGAAAGTGGGTTCTAACTCGGCGCATTTTC | ||||||||||||||||
| Wildtype AA sequence | MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD NNQYFDISAL SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC PENMKGVTED GWNCISCPSD LTAEGKCHCP IGHILVERDI NGTLLSQATC ELCDGNENSF MVVNALGDRC VRCEPTFVNT SRSCACSEPN ILTGGLCFSS TGNFPLRRIS AARYGEVGMS LTSEWFAKYL QSSAAACWVY ANLTSCQALG NMCVMNMNSY DFATFDACGL FQFIFENTAG LSTVHSISFW RQNLPWLFYG DQLGLAPQVL SSTSLPTNFS FKGENQNTKL KFVAASYDIR GNFLKWQTLE GGVLQLCPDT ETRLNAAYSF GTTYQQNCEI PISKILIDFP TPIFYDVYLE YTDENQHQYI LAVPVLNLNL QHNKIFVNQD SNSGKWLLTR RIFLVDAVSG RENDLGTQPR VIRVATQISL SVHLVPNTIN GNIYPPLITI AYSDIDIKDA NSQSVKVSFS VTYEMDHGEA HVQTDIALGV LGGLAVLASL LKTAGWKRRI GSPMIDLQTV VKFLVYYAGD LANVFFIITV GTGLYWLIFF KAQKSVSVLL PMPIQEERFV TYVGCAFALK ALQFLHKLIS QITIDVFFID WERPKGKVLK AVEGEGGVRS ATVPVSIWRT YFVANEWNEI QTVRKINSLF QVLTVLFFLE VVGFKNLALM DSSSSLSRNP PSYIAPYSCI LRYAVSAALW LAIGIIQVVF FAVFYERFIE DKIRQFVDLC SMSNISVFLL SHKCFGYYIH GRSVHGHADT NMEEMNMNLK REAENLCSQR GLVPNTDGQT FEIAISNQMR QHYDRIHETL IRKNGPARLL SSSASTFEQS IKAYHMMNKF LGSFIDHVHK EMDYFIKDKL LLERILGMEF MEPMEKSIFY NDEGYSFSSV LYYGNEATLL IFDLLFFCVV DLACQNFILA SFLTYLQQEI FRYIRNTVGQ KNLASKTLVD QRFLI* | ||||||||||||||||
| Mutated AA sequence | MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD NNQYFDISAL SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC PENMKGVTED GWNCISCPSD LTAEGKCHCP IGHILVERDI NGTLLSQATC ELCDGNENSF MVVNALGDRC VRCEPTFVNT SRSCACSEPN ILTGGLCFSS TGNFPLRRIS AARYGEVGMS LTSEWFAKYL QSSAAACWVY ANLTSCQALG NMCVMNMNSY DFATFDACGL FQFIFENTAG LSTVHSISFW RQNLPWLFYG DQLGLAPQVL SSTSLPTNFS FKGENQNTKL KFVAASYDIR GNFLKWQTLE GGVLQLCPDT ETRLNAAYSF GTTYQQNCEI PISKILIDFP TPIFYDVYLE YTDENQHQYI LAVPVLNLNL QHNKIFVNQD SNSGKWVLTR RIFLVDAVSG RENDLGTQPR VIRVATQISL SVHLVPNTIN GNIYPPLITI AYSDIDIKDA NSQSVKVSFS VTYEMDHGEA HVQTDIALGV LGGLAVLASL LKTAGWKRRI GSPMIDLQTV VKFLVYYAGD LANVFFIITV GTGLYWLIFF KAQKSVSVLL PMPIQEERFV TYVGCAFALK ALQFLHKLIS QITIDVFFID WERPKGKVLK AVEGEGGVRS ATVPVSIWRT YFVANEWNEI QTVRKINSLF QVLTVLFFLE VVGFKNLALM DSSSSLSRNP PSYIAPYSCI LRYAVSAALW LAIGIIQVVF FAVFYERFIE DKIRQFVDLC SMSNISVFLL SHKCFGYYIH GRSVHGHADT NMEEMNMNLK REAENLCSQR GLVPNTDGQT FEIAISNQMR QHYDRIHETL IRKNGPARLL SSSASTFEQS IKAYHMMNKF LGSFIDHVHK EMDYFIKDKL LLERILGMEF MEPMEKSIFY NDEGYSFSSV LYYGNEATLL IFDLLFFCVV DLACQNFILA SFLTYLQQEI FRYIRNTVGQ KNLASKTLVD QRFLI* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 2988 / 2988 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 996 / 996 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 3009 / 3009 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 22 / 22 | ||||||||||||||||
| Last intron/exon boundary | 2928 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 2856 | ||||||||||||||||
| Length of CDS | 2988 | ||||||||||||||||
| Coding sequence (CDS) position | 1309 | ||||||||||||||||
| cDNA position | 1330 | ||||||||||||||||
| gDNA position | 31400 | ||||||||||||||||
| Chromosomal position | 93786243 | ||||||||||||||||
| 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 | Chr8:93786243C>G (GRCh38) | |||||||||||||
| Gene symbol | TMEM67 | |||||||||||||
| Gene constraints | LOEUF: 1.05, LOF (oe): 0.83, misssense (oe): 0.90, synonymous (oe): 0.90 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000521517.6 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1309C>G g.31400C>G | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 21 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 8 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | ACAGCAACTCTGGAAAGTGGCTTCTAACTCGGCGCATTTTC | |||||||||||||
| Altered gDNA sequence snippet | ACAGCAACTCTGGAAAGTGGGTTCTAACTCGGCGCATTTTC | |||||||||||||
| Original cDNA sequence snippet | ACAGCAACTCTGGAAAGTGGCTTCTAACTCGGCGCATTTTC | |||||||||||||
| Altered cDNA sequence snippet | ACAGCAACTCTGGAAAGTGGGTTCTAACTCGGCGCATTTTC | |||||||||||||
| Wildtype AA sequence | MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD NNQYFDISAL SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC PENMKGVTED GWNCISCPSD LTAEGKCHCP IGHILVERDI NGTLLSQATC ELCDGNENSF MVVNALGDRC VRCEPTFVNT SRSCACSEPN ILTGGLCFSS TGNFPLRRIS AARYGEVGMS LTSEWFAKYL QSSAAACWVY ANLTSCQALG NMCVMNMNSY DFATFDACGL FQFIFENTAG LSTVHSISFW RQNLPWLFYG DQLGLAPQVL SSTSLPTNFS FKGENQNTKL KFVAASYDIR GNFLKWQTLE GGVLQLCPDT ETRLNAAYSF GTTYQQNCEI PISKILIDFP TPIFYDVYLE YTDENQHQYI LAVPVLNLNL QHNKIFVNQD SNSGKWLLTR RIFLVDAVSG RENDLGTQPR VIRVATQISL SVHLVPNTIN GNIYPPLITI AYSDIDIKDA NSQSVKVSFS VTYEMDHGEA HVQTDIALGV LGGLAVLASL LKTAGWKRRI GSPMIDLQAQ KSVSVLLPMP IQEERFVTYV GCAFALKALQ FLHKLISQIT IDVFFIDWER PKGKVLKAVE GEGGVRSATV PVSIWRTYFV ANEWNEIQTV RKINSLFQVL TVLFFLEVVG FKNLALMDSS SSLSRNPPSY IAPYSCILRY AVSAALWLAI GIIQVVFFAV FYERFIEDKI RQFVDLCSMS NISVFLLSHK CFGYYIHGRS VHGHADTNME EMNMNLKREA ENLCSQRGLV PNTDGQTFEI AISNQMRQHY DRIHETLIRK NGPARLLSSS ASTFEQSIKA YHMMNKFLGS FIDHVHKEMD YFIKDKLLLE RILGMEFMEP MEKSIFYNDE GYSFSSVLYY GNEATLLIFD LLFFCVVDLA CQNFILASFL TYLQQEIFRY IRNTVGQKNL ASKTLVDQRF LI* | |||||||||||||
| Mutated AA sequence | MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD NNQYFDISAL SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC PENMKGVTED GWNCISCPSD LTAEGKCHCP IGHILVERDI NGTLLSQATC ELCDGNENSF MVVNALGDRC VRCEPTFVNT SRSCACSEPN ILTGGLCFSS TGNFPLRRIS AARYGEVGMS LTSEWFAKYL QSSAAACWVY ANLTSCQALG NMCVMNMNSY DFATFDACGL FQFIFENTAG LSTVHSISFW RQNLPWLFYG DQLGLAPQVL SSTSLPTNFS FKGENQNTKL KFVAASYDIR GNFLKWQTLE GGVLQLCPDT ETRLNAAYSF GTTYQQNCEI PISKILIDFP TPIFYDVYLE YTDENQHQYI LAVPVLNLNL QHNKIFVNQD SNSGKWVLTR RIFLVDAVSG RENDLGTQPR VIRVATQISL SVHLVPNTIN GNIYPPLITI AYSDIDIKDA NSQSVKVSFS VTYEMDHGEA HVQTDIALGV LGGLAVLASL LKTAGWKRRI GSPMIDLQAQ KSVSVLLPMP IQEERFVTYV GCAFALKALQ FLHKLISQIT IDVFFIDWER PKGKVLKAVE GEGGVRSATV PVSIWRTYFV ANEWNEIQTV RKINSLFQVL TVLFFLEVVG FKNLALMDSS SSLSRNPPSY IAPYSCILRY AVSAALWLAI GIIQVVFFAV FYERFIEDKI RQFVDLCSMS NISVFLLSHK CFGYYIHGRS VHGHADTNME EMNMNLKREA ENLCSQRGLV PNTDGQTFEI AISNQMRQHY DRIHETLIRK NGPARLLSSS ASTFEQSIKA YHMMNKFLGS FIDHVHKEMD YFIKDKLLLE RILGMEFMEP MEKSIFYNDE GYSFSSVLYY GNEATLLIFD LLFFCVVDLA CQNFILASFL TYLQQEIFRY IRNTVGQKNL ASKTLVDQRF LI* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2889 / 2889 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 963 / 963 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2889 / 2889 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | |||||||||||||
| Last intron/exon boundary | 2808 | |||||||||||||
| Theoretical NMD boundary in CDS | 2757 | |||||||||||||
| Length of CDS | 2889 | |||||||||||||
| Coding sequence (CDS) position | 1309 | |||||||||||||
| cDNA position | 1309 | |||||||||||||
| gDNA position | 31400 | |||||||||||||
| Chromosomal position | 93786243 | |||||||||||||
| 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 | Chr8:93786243C>G (GRCh38) | |||||||||||||
| Gene symbol | TMEM67 | |||||||||||||
| Gene constraints | LOEUF: 1.08, LOF (oe): 0.86, misssense (oe): 0.90, synonymous (oe): 0.91 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000683362.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.970C>G g.31400C>G | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 21 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 8 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | ACAGCAACTCTGGAAAGTGGCTTCTAACTCGGCGCATTTTC | |||||||||||||
| Altered gDNA sequence snippet | ACAGCAACTCTGGAAAGTGGGTTCTAACTCGGCGCATTTTC | |||||||||||||
| Original cDNA sequence snippet | ACAGCAACTCTGGAAAGTGGCTTCTAACTCGGCGCATTTTC | |||||||||||||
| Altered cDNA sequence snippet | ACAGCAACTCTGGAAAGTGGGTTCTAACTCGGCGCATTTTC | |||||||||||||
| Wildtype AA sequence | MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD NNQYFDISAL SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC PENMGMSLTS EWFAKYLQSS AAACWVYANL TSCQALGNMC VMNMNSYDFA TFDACGLFQF IFENTAGLST VHSISFWRQN LPWLFYGDQL GLAPQVLSST SLPTNFSFKG ENQNTKLKFV AASYDIRGNF LKWQTLEGGV LQLCPDTETR LNAAYSFGTT YQQNCEIPIS KILIDFPTPI FYDVYLEYTD ENQHQYILAV PVLNLNLQHN KIFVNQDSNS GKWLLTRRIF LVDAVSGREN DLGTQPRVIR VATQISLSVH LVPNTINGNI YPPLITIAYS DIDIKDANSQ SVKVSFSVTY EMDHGEAHVQ TDIALGVLGG LAVLASLLKT AGWKRRIGSP MIDLQTVVKF LVYYAGDLAN VFFIITVGTG LYWLIFFKAQ KSVSVLLPMP IQEERFVTYV GCAFALKALQ FLHKLISQIT IDVFFIDWER PKGKVLKAVE GEGGVRSATV PVSIWRTYFV ANEWNEIQTV RKINSLFQVL TVLFFLEVVG FKNLALMDSS SSLSRNPPSY IAPYSCILRY AVSAALWLAI GIIQVVFFAV FYERFIEDKI RQFVDLCSMS NISVFLLSHK CFGYYIHGRS VHGHADTNME EMNMNLKREA ENLCSQRGLV PNTDGQTFEI AISNQMRQHY DRIHETLIRK NGPARLLSSS ASTFEQSIKA YHMMNKFLGS FIDHVHKEMD YFIKDKLLLE RILGMEFMEP MEKSIFYNDE GYSFSSVLYY GNEATLLIFD LLFFCVVDLA CQNFILASFL TYLQQEIFRY IRNTVGQKNL ASKTLVDQRF LI* | |||||||||||||
| Mutated AA sequence | MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD NNQYFDISAL SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC PENMGMSLTS EWFAKYLQSS AAACWVYANL TSCQALGNMC VMNMNSYDFA TFDACGLFQF IFENTAGLST VHSISFWRQN LPWLFYGDQL GLAPQVLSST SLPTNFSFKG ENQNTKLKFV AASYDIRGNF LKWQTLEGGV LQLCPDTETR LNAAYSFGTT YQQNCEIPIS KILIDFPTPI FYDVYLEYTD ENQHQYILAV PVLNLNLQHN KIFVNQDSNS GKWVLTRRIF LVDAVSGREN DLGTQPRVIR VATQISLSVH LVPNTINGNI YPPLITIAYS DIDIKDANSQ SVKVSFSVTY EMDHGEAHVQ TDIALGVLGG LAVLASLLKT AGWKRRIGSP MIDLQTVVKF LVYYAGDLAN VFFIITVGTG LYWLIFFKAQ KSVSVLLPMP IQEERFVTYV GCAFALKALQ FLHKLISQIT IDVFFIDWER PKGKVLKAVE GEGGVRSATV PVSIWRTYFV ANEWNEIQTV RKINSLFQVL TVLFFLEVVG FKNLALMDSS SSLSRNPPSY IAPYSCILRY AVSAALWLAI GIIQVVFFAV FYERFIEDKI RQFVDLCSMS NISVFLLSHK CFGYYIHGRS VHGHADTNME EMNMNLKREA ENLCSQRGLV PNTDGQTFEI AISNQMRQHY DRIHETLIRK NGPARLLSSS ASTFEQSIKA YHMMNKFLGS FIDHVHKEMD YFIKDKLLLE RILGMEFMEP MEKSIFYNDE GYSFSSVLYY GNEATLLIFD LLFFCVVDLA CQNFILASFL TYLQQEIFRY IRNTVGQKNL ASKTLVDQRF LI* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2649 / 2649 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 883 / 883 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2670 / 2670 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 22 / 22 | |||||||||||||
| Last intron/exon boundary | 2589 | |||||||||||||
| Theoretical NMD boundary in CDS | 2517 | |||||||||||||
| Length of CDS | 2649 | |||||||||||||
| Coding sequence (CDS) position | 970 | |||||||||||||
| cDNA position | 991 | |||||||||||||
| gDNA position | 31400 | |||||||||||||
| Chromosomal position | 93786243 | |||||||||||||
| 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 | Chr8:93786243C>G (GRCh38) | |||||||||||||
| Gene symbol | TMEM67 | |||||||||||||
| Gene constraints | LOEUF: 1.14, LOF (oe): 0.88, misssense (oe): 0.90, synonymous (oe): 0.91 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000453906.6 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.427C>G g.31400C>G | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 21 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 8 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | ACAGCAACTCTGGAAAGTGGCTTCTAACTCGGCGCATTTTC | |||||||||||||
| Altered gDNA sequence snippet | ACAGCAACTCTGGAAAGTGGGTTCTAACTCGGCGCATTTTC | |||||||||||||
| Original cDNA sequence snippet | ACAGCAACTCTGGAAAGTGGCTTCTAACTCGGCGCATTTTC | |||||||||||||
| Altered cDNA sequence snippet | ACAGCAACTCTGGAAAGTGGGTTCTAACTCGGCGCATTTTC | |||||||||||||
| Wildtype AA sequence | MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD NNQYFDISAL SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC PENMKGVTED GWNCISCPSD LTAEGKCHCP IGHILDSNSG KWLLTRRIFL VDAVSGREND LGTQPRVIRV ATQISLSVHL VPNTINGNIY PPLITIAYSD IDIKDANSQS VKVSFSVTYE MDHGEAHVQT DIALGVLGGL AVLASLLKTA GWKRRIGSPM IDLQTVVKFL VYYAGDLANV FFIITVGTGL YWLIFFKAQK SVSVLLPMPI QEERFVTYVG CAFALKALQF LHKLISQITI DVFFIDWERP KGKVLKAVEG EGGVRSATVP VSIWRTYFVA NEWNEIQTVR KINSLFQVLT VLFFLEVVGF KNLALMDSSS SLSRNPPSYI APYSCILRYA VSAALWLAIG IIQVVFFAVF YERFIEDKIR QFVDLCSMSN ISVFLLSHKC FGYYIHGRSV HGHADTNMEE MNMNLKREAE NLCSQRGLVP NTDGQTFEIA ISNQMRQHYD RIHETLIRKN GPARLLSSSA STFEQSIKAY HMMNKFLGSF IDHVHKEMDY FIKDKLLLER ILGMEFMEPM EKSIFYNDEG YSFSSVLYYG NEATLLIFDL LFFCVVDLAC QNFILASFLT YLQQEIFRYI RNTVGQKNLA SKTLVDQRFL I* | |||||||||||||
| Mutated AA sequence | MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD NNQYFDISAL SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC PENMKGVTED GWNCISCPSD LTAEGKCHCP IGHILDSNSG KWVLTRRIFL VDAVSGREND LGTQPRVIRV ATQISLSVHL VPNTINGNIY PPLITIAYSD IDIKDANSQS VKVSFSVTYE MDHGEAHVQT DIALGVLGGL AVLASLLKTA GWKRRIGSPM IDLQTVVKFL VYYAGDLANV FFIITVGTGL YWLIFFKAQK SVSVLLPMPI QEERFVTYVG CAFALKALQF LHKLISQITI DVFFIDWERP KGKVLKAVEG EGGVRSATVP VSIWRTYFVA NEWNEIQTVR KINSLFQVLT VLFFLEVVGF KNLALMDSSS SLSRNPPSYI APYSCILRYA VSAALWLAIG IIQVVFFAVF YERFIEDKIR QFVDLCSMSN ISVFLLSHKC FGYYIHGRSV HGHADTNMEE MNMNLKREAE NLCSQRGLVP NTDGQTFEIA ISNQMRQHYD RIHETLIRKN GPARLLSSSA STFEQSIKAY HMMNKFLGSF IDHVHKEMDY FIKDKLLLER ILGMEFMEPM EKSIFYNDEG YSFSSVLYYG NEATLLIFDL LFFCVVDLAC QNFILASFLT YLQQEIFRYI RNTVGQKNLA SKTLVDQRFL I* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2106 / 2106 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 702 / 702 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2127 / 2127 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 22 / 22 | |||||||||||||
| Last intron/exon boundary | 2046 | |||||||||||||
| Theoretical NMD boundary in CDS | 1974 | |||||||||||||
| Length of CDS | 2106 | |||||||||||||
| Coding sequence (CDS) position | 427 | |||||||||||||
| cDNA position | 448 | |||||||||||||
| gDNA position | 31400 | |||||||||||||
| Chromosomal position | 93786243 | |||||||||||||
| Speed | 0.12 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 | Chr8:93786243C>G (GRCh38) | |||||||||||||
| Gene symbol | TMEM67 | |||||||||||||
| Gene constraints | LOEUF: 1.14, LOF (oe): 0.88, misssense (oe): 0.90, synonymous (oe): 0.91 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000682036.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.427C>G g.31400C>G | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 21 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 8 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | ACAGCAACTCTGGAAAGTGGCTTCTAACTCGGCGCATTTTC | |||||||||||||
| Altered gDNA sequence snippet | ACAGCAACTCTGGAAAGTGGGTTCTAACTCGGCGCATTTTC | |||||||||||||
| Original cDNA sequence snippet | ACAGCAACTCTGGAAAGTGGCTTCTAACTCGGCGCATTTTC | |||||||||||||
| Altered cDNA sequence snippet | ACAGCAACTCTGGAAAGTGGGTTCTAACTCGGCGCATTTTC | |||||||||||||
| Wildtype AA sequence | MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD NNQYFDISAL SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC PENMKGVTED GWNCISCPSD LTAEGKCHCP IGHILDSNSG KWLLTRRIFL VDAVSGREND LGTQPRVIRV ATQISLSVHL VPNTINGNIY PPLITIAYSD IDIKDANSQS VKVSFSVTYE MDHGEAHVQT DTEFCTCCPG WSAMARSWLT ATSASRVQAI LLSQPPEYLG LQIALGVLGG LAVLASLLKT AGWKRRIGSP MIDLQTVVKF LVYYAGDLAN VFFIITVGTG LYWLIFFKAQ KSVSVLLPMP IQEERFVTYV GCAFALKALQ FLHKLISQIT IDVFFIDWER PKGKVLKAVE GEGGVRSATV PVSIWRTYFV ANEWNEIQTV RKINSLFQVL TVLFFLEVVG FKNLALMDSS SSLSRNPPSY IAPYSCILRY AVSAALWLAI GIIQVVFFAV FYERFIEDKI RQFVDLCSMS NISVFLLSHK CFGYYIHGRS VHGHADTNME EMNMNLKREA ENLCSQRGLV PNTDGQTFEI AISNQMRQHY DRIHETLIRK NGPARLLSSS ASTFEQSIKA YHMMNKFLGS FIDHVHKEMD YFIKDKLLLE RILGMEFMEP MEKSIFYNDE GYSFSSVLYY GNEATLLIFD LLFFCVVDLA CQNFILASFL TYLQQEIFRY IRNTVGQKNL ASKTLVDQRF LI* | |||||||||||||
| Mutated AA sequence | MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD NNQYFDISAL SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC PENMKGVTED GWNCISCPSD LTAEGKCHCP IGHILDSNSG KWVLTRRIFL VDAVSGREND LGTQPRVIRV ATQISLSVHL VPNTINGNIY PPLITIAYSD IDIKDANSQS VKVSFSVTYE MDHGEAHVQT DTEFCTCCPG WSAMARSWLT ATSASRVQAI LLSQPPEYLG LQIALGVLGG LAVLASLLKT AGWKRRIGSP MIDLQTVVKF LVYYAGDLAN VFFIITVGTG LYWLIFFKAQ KSVSVLLPMP IQEERFVTYV GCAFALKALQ FLHKLISQIT IDVFFIDWER PKGKVLKAVE GEGGVRSATV PVSIWRTYFV ANEWNEIQTV RKINSLFQVL TVLFFLEVVG FKNLALMDSS SSLSRNPPSY IAPYSCILRY AVSAALWLAI GIIQVVFFAV FYERFIEDKI RQFVDLCSMS NISVFLLSHK CFGYYIHGRS VHGHADTNME EMNMNLKREA ENLCSQRGLV PNTDGQTFEI AISNQMRQHY DRIHETLIRK NGPARLLSSS ASTFEQSIKA YHMMNKFLGS FIDHVHKEMD YFIKDKLLLE RILGMEFMEP MEKSIFYNDE GYSFSSVLYY GNEATLLIFD LLFFCVVDLA CQNFILASFL TYLQQEIFRY IRNTVGQKNL ASKTLVDQRF LI* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2229 / 2229 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 743 / 743 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2250 / 2250 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 22 / 22 | |||||||||||||
| Last intron/exon boundary | 2169 | |||||||||||||
| Theoretical NMD boundary in CDS | 2097 | |||||||||||||
| Length of CDS | 2229 | |||||||||||||
| Coding sequence (CDS) position | 427 | |||||||||||||
| cDNA position | 448 | |||||||||||||
| gDNA position | 31400 | |||||||||||||
| Chromosomal position | 93786243 | |||||||||||||
| Speed | 0.12 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 | Chr8:93786243C>G (GRCh38) | |||||||||||||
| Gene symbol | TMEM67 | |||||||||||||
| Gene constraints | LOEUF: 1.09, LOF (oe): 0.87, misssense (oe): 0.84, synonymous (oe): 0.90 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000684064.1 | |||||||||||||
| Genbank transcript ID | NM_001142301 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1000C>G g.31400C>G | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 21 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 8 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | ACAGCAACTCTGGAAAGTGGCTTCTAACTCGGCGCATTTTC | |||||||||||||
| Altered gDNA sequence snippet | ACAGCAACTCTGGAAAGTGGGTTCTAACTCGGCGCATTTTC | |||||||||||||
| Original cDNA sequence snippet | ACAGCAACTCTGGAAAGTGGCTTCTAACTCGGCGCATTTTC | |||||||||||||
| Altered cDNA sequence snippet | ACAGCAACTCTGGAAAGTGGGTTCTAACTCGGCGCATTTTC | |||||||||||||
| Wildtype AA sequence | MKGVTEDGWN CISCPSDLTA EGKCHCPIGH ILVERDINGT LLSQATCELC DGNENSFMVV NALGDRCVRC EPTFVNTSRS CACSEPNILT GGLCFSSTGN FPLRRISAAR YGEVGMSLTS EWFAKYLQSS AAACWVYANL TSCQALGNMC VMNMNSYDFA TFDACGLFQF IFENTAGLST VHSISFWRQN LPWLFYGDQL GLAPQVLSST SLPTNFSFKG ENQNTKLKFV AASYDIRGNF LKWQTLEGGV LQLCPDTETR LNAAYSFGTT YQQNCEIPIS KILIDFPTPI FYDVYLEYTD ENQHQYILAV PVLNLNLQHN KIFVNQDSNS GKWLLTRRIF LVDAVSGREN DLGTQPRVIR VATQISLSVH LVPNTINGNI YPPLITIAYS DIDIKDANSQ SVKVSFSVTY EMDHGEAHVQ TDIALGVLGG LAVLASLLKT AGWKRRIGSP MIDLQTVVKF LVYYAGDLAN VFFIITVGTG LYWLIFFKAQ KSVSVLLPMP IQEERFVTYV GCAFALKALQ FLHKLISQIT IDVFFIDWER PKGKVLKAVE GEGGVRSATV PVSIWRTYFV ANEWNEIQTV RKINSLFQVL TVLFFLEVVG FKNLALMDSS SSLSRNPPSY IAPYSCILRY AVSAALWLAI GIIQVVFFAV FYERFIEDKI RQFVDLCSMS NISVFLLSHK CFGYYIHGRS VHGHADTNME EMNMNLKREA ENLCSQRGLV PNTDGQTFEI AISNQMRQHY DRIHETLIRK NGPARLLSSS ASTFEQSIKA YHMMNKFLGS FIDHVHKEMD YFIKDKLLLE RILGMEFMEP MEKSIFYNDE GYSFSSVLYY GNEATLLIFD LLFFCVVDLA CQNFILASFL TYLQQEIFRY IRNTVGQKNL ASKTLVDQRF LI* | |||||||||||||
| Mutated AA sequence | MKGVTEDGWN CISCPSDLTA EGKCHCPIGH ILVERDINGT LLSQATCELC DGNENSFMVV NALGDRCVRC EPTFVNTSRS CACSEPNILT GGLCFSSTGN FPLRRISAAR YGEVGMSLTS EWFAKYLQSS AAACWVYANL TSCQALGNMC VMNMNSYDFA TFDACGLFQF IFENTAGLST VHSISFWRQN LPWLFYGDQL GLAPQVLSST SLPTNFSFKG ENQNTKLKFV AASYDIRGNF LKWQTLEGGV LQLCPDTETR LNAAYSFGTT YQQNCEIPIS KILIDFPTPI FYDVYLEYTD ENQHQYILAV PVLNLNLQHN KIFVNQDSNS GKWVLTRRIF LVDAVSGREN DLGTQPRVIR VATQISLSVH LVPNTINGNI YPPLITIAYS DIDIKDANSQ SVKVSFSVTY EMDHGEAHVQ TDIALGVLGG LAVLASLLKT AGWKRRIGSP MIDLQTVVKF LVYYAGDLAN VFFIITVGTG LYWLIFFKAQ KSVSVLLPMP IQEERFVTYV GCAFALKALQ FLHKLISQIT IDVFFIDWER PKGKVLKAVE GEGGVRSATV PVSIWRTYFV ANEWNEIQTV RKINSLFQVL TVLFFLEVVG FKNLALMDSS SSLSRNPPSY IAPYSCILRY AVSAALWLAI GIIQVVFFAV FYERFIEDKI RQFVDLCSMS NISVFLLSHK CFGYYIHGRS VHGHADTNME EMNMNLKREA ENLCSQRGLV PNTDGQTFEI AISNQMRQHY DRIHETLIRK NGPARLLSSS ASTFEQSIKA YHMMNKFLGS FIDHVHKEMD YFIKDKLLLE RILGMEFMEP MEKSIFYNDE GYSFSSVLYY GNEATLLIFD LLFFCVVDLA CQNFILASFL TYLQQEIFRY IRNTVGQKNL ASKTLVDQRF LI* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2679 / 2679 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 893 / 893 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2949 / 2949 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 271 / 271 | |||||||||||||
| Last intron/exon boundary | 2868 | |||||||||||||
| Theoretical NMD boundary in CDS | 2547 | |||||||||||||
| Length of CDS | 2679 | |||||||||||||
| Coding sequence (CDS) position | 1000 | |||||||||||||
| cDNA position | 1270 | |||||||||||||
| gDNA position | 31400 | |||||||||||||
| Chromosomal position | 93786243 | |||||||||||||
| Speed | 0.12 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 | Chr8:93786243C>G (GRCh38) | |||||||||||||
| Gene symbol | TMEM67 | |||||||||||||
| Gene constraints | LOEUF: 1.08, LOF (oe): 0.87, misssense (oe): 0.88, synonymous (oe): 0.92 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000520680.2 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1309C>G g.31400C>G | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 21 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 8 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | ACAGCAACTCTGGAAAGTGGCTTCTAACTCGGCGCATTTTC | |||||||||||||
| Altered gDNA sequence snippet | ACAGCAACTCTGGAAAGTGGGTTCTAACTCGGCGCATTTTC | |||||||||||||
| Original cDNA sequence snippet | ACAGCAACTCTGGAAAGTGGCTTCTAACTCGGCGCATTTTC | |||||||||||||
| Altered cDNA sequence snippet | ACAGCAACTCTGGAAAGTGGGTTCTAACTCGGCGCATTTTC | |||||||||||||
| Wildtype AA sequence | MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD NNQYFDISAL SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC PENMKGVTED GWNCISCPSD LTAEGKCHCP IGHILVERDI NGTLLSQATC ELCDGNENSF MVVNALGDRC VRCEPTFVNT SRSCACSEPN ILTGGLCFSS TGNFPLRRIS AARYGEVGMS LTSEWFAKYL QSSAAACWVY ANLTSCQALG NMCVMNMNSY DFATFDACGL FQFIFENTAG LSTVHSISFW RQNLPWLFYG DQLGLAPQVL SSTSLPTNFS FKGENQNTKL KFVAASYDIR GNFLKWQTLE GGVLQLCPDT ETRLNAAYSF GTTYQQNCEI PISKILIDFP TPIFYDVYLE YTDENQHQYI LAVPVLNLNL QHNKIFVNQD SNSGKWLLTR RIFLVDAVSG RENDLGTQPR VIRVATQISL SVHLVPNTIN GNIYPPLITI AYSDIDIKDA NSQSVKVSFS VTYEMDHGEA HVQTDTEFCT CCPGWSAMAR SWLTATSASR VQAILLSQPP EYLGLQIALG VLGGLAVLAS LLKTAGWKRR IGSPMIDLQT VVKFLVYYAG DLANVFFIIT VGTGLYWLIF FKAQKSVSVL LPMPIQEERF VTYVGCAFAL KALQFLHKLI SQITIDVFFI DWERPKGKVL KAVEGEGGVR SATVPVSIWR TYFVANEWNE IQTVRKINSL FQVLTVLFFL EVVGFKNLAL MDSSSSLSRN PPSYIAPYSC ILRYAVSAAL WLAIGIIQVV FFAVFYERFI EDKIRQFVDL CSMSNISVFL LSHKCFGYYI HGRSVHGHAD TNMEEMNMNL KREAENLCSQ RGLVPNTDGQ TFEIAISNQM RQHYDRIHET LIRKNGPARL LSSSASTFEQ SIKAYHMMNK FLGSFIDHVH KEMDYFIKDK LLLERILGME FMEPMEKSIF YNDEGYSFSS VLYYGNEATL LIFDLLFFCV VDLACQNFIL ASFLTYLQQE IFRYIRNTVG QKNLASKTLV DQRFLI* | |||||||||||||
| Mutated AA sequence | MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD NNQYFDISAL SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC PENMKGVTED GWNCISCPSD LTAEGKCHCP IGHILVERDI NGTLLSQATC ELCDGNENSF MVVNALGDRC VRCEPTFVNT SRSCACSEPN ILTGGLCFSS TGNFPLRRIS AARYGEVGMS LTSEWFAKYL QSSAAACWVY ANLTSCQALG NMCVMNMNSY DFATFDACGL FQFIFENTAG LSTVHSISFW RQNLPWLFYG DQLGLAPQVL SSTSLPTNFS FKGENQNTKL KFVAASYDIR GNFLKWQTLE GGVLQLCPDT ETRLNAAYSF GTTYQQNCEI PISKILIDFP TPIFYDVYLE YTDENQHQYI LAVPVLNLNL QHNKIFVNQD SNSGKWVLTR RIFLVDAVSG RENDLGTQPR VIRVATQISL SVHLVPNTIN GNIYPPLITI AYSDIDIKDA NSQSVKVSFS VTYEMDHGEA HVQTDTEFCT CCPGWSAMAR SWLTATSASR VQAILLSQPP EYLGLQIALG VLGGLAVLAS LLKTAGWKRR IGSPMIDLQT VVKFLVYYAG DLANVFFIIT VGTGLYWLIF FKAQKSVSVL LPMPIQEERF VTYVGCAFAL KALQFLHKLI SQITIDVFFI DWERPKGKVL KAVEGEGGVR SATVPVSIWR TYFVANEWNE IQTVRKINSL FQVLTVLFFL EVVGFKNLAL MDSSSSLSRN PPSYIAPYSC ILRYAVSAAL WLAIGIIQVV FFAVFYERFI EDKIRQFVDL CSMSNISVFL LSHKCFGYYI HGRSVHGHAD TNMEEMNMNL KREAENLCSQ RGLVPNTDGQ TFEIAISNQM RQHYDRIHET LIRKNGPARL LSSSASTFEQ SIKAYHMMNK FLGSFIDHVH KEMDYFIKDK LLLERILGME FMEPMEKSIF YNDEGYSFSS VLYYGNEATL LIFDLLFFCV VDLACQNFIL ASFLTYLQQE IFRYIRNTVG QKNLASKTLV DQRFLI* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3111 / 3111 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1037 / 1037 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3116 / 3116 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 6 / 6 | |||||||||||||
| Last intron/exon boundary | 3035 | |||||||||||||
| Theoretical NMD boundary in CDS | 2979 | |||||||||||||
| Length of CDS | 3111 | |||||||||||||
| Coding sequence (CDS) position | 1309 | |||||||||||||
| cDNA position | 1314 | |||||||||||||
| gDNA position | 31400 | |||||||||||||
| Chromosomal position | 93786243 | |||||||||||||
| Speed | 0.11 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 | Chr8:93786243C>G (GRCh38) | |||||||||||||
| Gene symbol | TMEM67 | |||||||||||||
| Gene constraints | LOEUF: 1.08, LOF (oe): 0.87, misssense (oe): 0.88, synonymous (oe): 0.92 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000452276.6 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1309C>G g.31400C>G | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 21 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 8 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | ACAGCAACTCTGGAAAGTGGCTTCTAACTCGGCGCATTTTC | |||||||||||||
| Altered gDNA sequence snippet | ACAGCAACTCTGGAAAGTGGGTTCTAACTCGGCGCATTTTC | |||||||||||||
| Original cDNA sequence snippet | ACAGCAACTCTGGAAAGTGGCTTCTAACTCGGCGCATTTTC | |||||||||||||
| Altered cDNA sequence snippet | ACAGCAACTCTGGAAAGTGGGTTCTAACTCGGCGCATTTTC | |||||||||||||
| Wildtype AA sequence | MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD NNQYFDISAL SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC PENMKGVTED GWNCISCPSD LTAEGKCHCP IGHILVERDI NGTLLSQATC ELCDGNENSF MVVNALGDRC VRCEPTFVNT SRSCACSEPN ILTGGLCFSS TGNFPLRRIS AARYGEVGMS LTSEWFAKYL QSSAAACWVY ANLTSCQALG NMCVMNMNSY DFATFDACGL FQFIFENTAG LSTVHSISFW RQNLPWLFYG DQLGLAPQVL SSTSLPTNFS FKGENQNTKL KFVAASYDIR GNFLKWQTLE GGVLQLCPDT ETRLNAAYSF GTTYQQNCEI PISKILIDFP TPIFYDVYLE YTDENQHQYI LAVPVLNLNL QHNKIFVNQD SNSGKWLLTR RIFLVDAVSG RENDLGTQPR VIRVATQISL SVHLVPNTIN GNIYPPLITI AYSDIDIKDA NSQSVKVSFS VTYEMDHGEA HVQTDIALGV LGGLAVLASL LKTAGWKRRI GSPMIDLQTV VKFLVYYAGD LANVFFIITV GTGLYWLIFF KAQKSVSVLL PMPIQEERFV TYVGCAFALK ALQFLHKLIS QITIDVFFID WERPKGKVLK AVEGEGGVRS ATVPVSIWRT YFVANEWNEI QTVRKINSLF QVLTVLFFLE VVGFKNLALM DSSSSLSRNP PSYIAPYSCI LRYAVSAALW LAIGIIQVVF FAVFYERFIE DKIRQFVDLC SMSNENLCSQ RGLVPNTDGQ TFEIAISNQM RQHYDRIHET LIRKNGPARL LSSSASTFEQ SIKAYHMMNK FLGSFIDHVH KEMDYFIKDK LLLERILGME FMEPMEKSIF YNDEGYSFSS VLYYGNEATL LIFDLLFFCV VDLACQNFIL ASFLTYLQQE IFRYIRNTVG QKNLASKTLV DQRFLI* | |||||||||||||
| Mutated AA sequence | MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD NNQYFDISAL SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC PENMKGVTED GWNCISCPSD LTAEGKCHCP IGHILVERDI NGTLLSQATC ELCDGNENSF MVVNALGDRC VRCEPTFVNT SRSCACSEPN ILTGGLCFSS TGNFPLRRIS AARYGEVGMS LTSEWFAKYL QSSAAACWVY ANLTSCQALG NMCVMNMNSY DFATFDACGL FQFIFENTAG LSTVHSISFW RQNLPWLFYG DQLGLAPQVL SSTSLPTNFS FKGENQNTKL KFVAASYDIR GNFLKWQTLE GGVLQLCPDT ETRLNAAYSF GTTYQQNCEI PISKILIDFP TPIFYDVYLE YTDENQHQYI LAVPVLNLNL QHNKIFVNQD SNSGKWVLTR RIFLVDAVSG RENDLGTQPR VIRVATQISL SVHLVPNTIN GNIYPPLITI AYSDIDIKDA NSQSVKVSFS VTYEMDHGEA HVQTDIALGV LGGLAVLASL LKTAGWKRRI GSPMIDLQTV VKFLVYYAGD LANVFFIITV GTGLYWLIFF KAQKSVSVLL PMPIQEERFV TYVGCAFALK ALQFLHKLIS QITIDVFFID WERPKGKVLK AVEGEGGVRS ATVPVSIWRT YFVANEWNEI QTVRKINSLF QVLTVLFFLE VVGFKNLALM DSSSSLSRNP PSYIAPYSCI LRYAVSAALW LAIGIIQVVF FAVFYERFIE DKIRQFVDLC SMSNENLCSQ RGLVPNTDGQ TFEIAISNQM RQHYDRIHET LIRKNGPARL LSSSASTFEQ SIKAYHMMNK FLGSFIDHVH KEMDYFIKDK LLLERILGME FMEPMEKSIF YNDEGYSFSS VLYYGNEATL LIFDLLFFCV VDLACQNFIL ASFLTYLQQE IFRYIRNTVG QKNLASKTLV DQRFLI* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2871 / 2871 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 957 / 957 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2871 / 2871 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1 / 1 | |||||||||||||
| Last intron/exon boundary | 2790 | |||||||||||||
| Theoretical NMD boundary in CDS | 2739 | |||||||||||||
| Length of CDS | 2871 | |||||||||||||
| Coding sequence (CDS) position | 1309 | |||||||||||||
| cDNA position | 1309 | |||||||||||||
| gDNA position | 31400 | |||||||||||||
| Chromosomal position | 93786243 | |||||||||||||
| Speed | 0.13 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 | Chr8:93786243C>G (GRCh38) | |||||||||||||
| Gene symbol | TMEM67 | |||||||||||||
| Gene constraints | LOEUF: 1.13, LOF (oe): 0.91, misssense (oe): 0.89, synonymous (oe): 0.90 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000409623.8 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.1289-25C>G g.31400C>G | |||||||||||||
| 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 | 25 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 8 | |||||||||||||
| Strand | 1 | |||||||||||||
| Original gDNA sequence snippet | ACAGCAACTCTGGAAAGTGGCTTCTAACTCGGCGCATTTTC | |||||||||||||
| Altered gDNA sequence snippet | ACAGCAACTCTGGAAAGTGGGTTCTAACTCGGCGCATTTTC | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MATRGGAGVA MAVWSLLSAR AVTAFLLLFL PRFLQAQTFS FPFQQPEKCD NNQYFDISAL SCVPCGANQR QDARGTSCVC LPGFQMISNN GGPAIICKKC PENMKGVTED GWNCISCPSD LTAEGKCHCP IGHILVERDI NGTLLSQATC ELCDGNENSF MVVNALGDRC VRCEPTFVNT SRSCACSEPN ILTGGLCFSS TGNFPLRRIS AARYGEVGMS LTSEWFAKYL QSSAAACWVY ANLTSCQALG NMCVMNMNSY DFATFDACGL FQFIFENTAG LSTVHSISFW RQNLPWLFYG DQLGLAPQVL SSTSLPTNFS FKGENQNTKL KFVAASYDIR GNFLKWQTLE GGVLQLCPDT ETRLNAAYSF GTTYQQNCEI PISKILIDFP TPIFYDVYLE YTDENQHQYI LAVPVLNLNL QHNKIFVNQV DAVSGRENDL GTQPRVIRVA TQISLSVHLV PNTINGNIYP PLITIAYSDI DIKDANSQSV KVSFSVTYEM DHGEAHVQTD IALGVLGGLA VLASLLKTAG WKRRIGSPMI DLQTVVKFLV YYAGDLANVF FIITVGTGLY WLIFFKAQKS VSVLLPMPIQ EERFVTYVGC AFALKALQFL HKLISQITID VFFIDWERPK GKVLKAVEGE GGVRSATVPV SIWRTYFVAN EWNEIQTVRK INSLFQVLTV LFFLEVVGFK NLALMDSSSS LSRNPPSYIA PYSCILRYAV SAALWLAIGI IQVVFFAVFY ERFIEDKIRQ FVDLCSMSNI SVFLLSHKCF GYYIHGRSVH GHADTNMEEM NMNLKREAEN LCSQRGLVPN TDGQTFEIAI SNQMRQHYDR IHETLIRKNG PARLLSSSAS TFEQSIKAYH MMNKFLGSFI DHVHKEMDYF IKDKLLLERI LGMEFMEPME KSIFYNDEGY SFSSVLYYGN EATLLIFDLL FFCVVDLACQ NFILASFLTY LQQEIFRYIR NTVGQKNLAS KTLVDQRFLI * | |||||||||||||
| 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 | 17 / 17 | |||||||||||||
| Last intron/exon boundary | 2878 | |||||||||||||
| Theoretical NMD boundary in CDS | 2811 | |||||||||||||
| Length of CDS | 2943 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 31400 | |||||||||||||
| Chromosomal position | 93786243 | |||||||||||||
| 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