| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000453960(MANE Select) | MECP2 | Deleterious | 45|55 | simple_ | No | Yes | Single base exchange | Normal |
| ||||
| MECP2 | Deleterious | 54|46 | simple_ | No | Yes | Single base exchange | Normal |
| |||||
| MECP2 | Deleterious | 54|46 | simple_ | No | Yes | Single base exchange | Normal |
| |||||
ENST00000303391(MANE Select) | MECP2 | Deleterious | 54|46 | simple_ | No | Yes | Single base exchange | Normal |
| ||||
| MECP2 | Deleterious | 54|46 | simple_ | No | Yes | Single base exchange | Normal |
| |||||
| MECP2 | Deleterious | 54|46 | simple_ | No | Yes | Single base exchange | Normal |
| |||||
| MECP2 | Deleterious | 54|46 | simple_ | No | Yes | Single base exchange | Normal |
|
| Analysed issue | Analysis result | ||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | ChrX:154032268G>A (GRCh38) | ||||||||||||||||||||||||||
| Gene symbol | MECP2 | ||||||||||||||||||||||||||
| Gene constraints | no data | ||||||||||||||||||||||||||
| Ensembl transcript ID | ENST00000453960.7 | ||||||||||||||||||||||||||
| Genbank transcript ID | NM_001110792 (exact from MANE), NM_001386139 (by similarity), NM_001369393 (by similarity) | ||||||||||||||||||||||||||
| UniProt / AlphaMissense peptide | MECP2_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||||||||||||
| Gene region | CDS | ||||||||||||||||||||||||||
| DNA changes | c.352C>T g.104836C>T | ||||||||||||||||||||||||||
| AA changes |
| ||||||||||||||||||||||||||
| Frameshift | No | ||||||||||||||||||||||||||
| Length of protein | Normal | ||||||||||||||||||||||||||
| Pathogenic variant (ClinVar) |
| ||||||||||||||||||||||||||
| 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 | 23 | ||||||||||||||||||||||||||
| Strand | -1 | ||||||||||||||||||||||||||
| Original gDNA sequence snippet | CCCTGCCTGAAGGCTGGACACGGAAGCTTAAGCAAAGGAAA | ||||||||||||||||||||||||||
| Altered gDNA sequence snippet | CCCTGCCTGAAGGCTGGACATGGAAGCTTAAGCAAAGGAAA | ||||||||||||||||||||||||||
| Original cDNA sequence snippet | CCCTGCCTGAAGGCTGGACACGGAAGCTTAAGCAAAGGAAA | ||||||||||||||||||||||||||
| Altered cDNA sequence snippet | CCCTGCCTGAAGGCTGGACATGGAAGCTTAAGCAAAGGAAA | ||||||||||||||||||||||||||
| Wildtype AA sequence | MAAAAAAAPS GGGGGGEEER LEEKSEDQDL QGLKDKPLKF KKVKKDKKEE KEGKHEPVQP SAHHSAEPAE AGKAETSEGS GSAPAVPEAS ASPKQRRSII RDRGPMYDDP TLPEGWTRKL KQRKSGRSAG KYDVYLINPQ GKAFRSKVEL IAYFEKVGDT SLDPNDFDFT VTGRGSPSRR EQKPPKKPKS PKAPGTGRGR GRPKGSGTTR PKAATSEGVQ VKRVLEKSPG KLLVKMPFQT SPGGKAEGGG ATTSTQVMVI KRPGRKRKAE ADPQAIPKKR GRKPGSVVAA AAAEAKKKAV KESSIRSVQE TVLPIKKRKT RETVSIEVKE VVKPLLVSTL GEKSGKGLKT CKSPGRKSKE SSPKGRSSSA SSPPKKEHHH HHHHSESPKA PVPLLPPLPP PPPEPESSED PTSPPEPQDL SSSVCKEEKM PRGGSLESDG CPKEPAKTQP AVATAATAAE KYKHRGEGER KDIVSSSMPR PNREEPVDSR TPVTERVS* | ||||||||||||||||||||||||||
| Mutated AA sequence | MAAAAAAAPS GGGGGGEEER LEEKSEDQDL QGLKDKPLKF KKVKKDKKEE KEGKHEPVQP SAHHSAEPAE AGKAETSEGS GSAPAVPEAS ASPKQRRSII RDRGPMYDDP TLPEGWTWKL KQRKSGRSAG KYDVYLINPQ GKAFRSKVEL IAYFEKVGDT SLDPNDFDFT VTGRGSPSRR EQKPPKKPKS PKAPGTGRGR GRPKGSGTTR PKAATSEGVQ VKRVLEKSPG KLLVKMPFQT SPGGKAEGGG ATTSTQVMVI KRPGRKRKAE ADPQAIPKKR GRKPGSVVAA AAAEAKKKAV KESSIRSVQE TVLPIKKRKT RETVSIEVKE VVKPLLVSTL GEKSGKGLKT CKSPGRKSKE SSPKGRSSSA SSPPKKEHHH HHHHSESPKA PVPLLPPLPP PPPEPESSED PTSPPEPQDL SSSVCKEEKM PRGGSLESDG CPKEPAKTQP AVATAATAAE KYKHRGEGER KDIVSSSMPR PNREEPVDSR TPVTERVS* | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 1497 / 1497 | ||||||||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 499 / 499 | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 1549 / 1549 | ||||||||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 53 / 53 | ||||||||||||||||||||||||||
| Last intron/exon boundary | 465 | ||||||||||||||||||||||||||
| Theoretical NMD boundary in CDS | 362 | ||||||||||||||||||||||||||
| Length of CDS | 1497 | ||||||||||||||||||||||||||
| Coding sequence (CDS) position | 352 | ||||||||||||||||||||||||||
| cDNA position | 404 | ||||||||||||||||||||||||||
| gDNA position | 104836 | ||||||||||||||||||||||||||
| Chromosomal position | 154032268 | ||||||||||||||||||||||||||
| Speed | 0.34 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 | ChrX:154032268G>A (GRCh38) | |||||||||
| Gene symbol | MECP2 | |||||||||
| Gene constraints | no data | |||||||||
| Ensembl transcript ID | ENST00000630151.3 | |||||||||
| Genbank transcript ID | NM_001369394 (by similarity) | |||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||
| Variant type | Single base exchange | |||||||||
| Gene region | CDS | |||||||||
| DNA changes | c.316C>T g.104836C>T | |||||||||
| AA changes |
| |||||||||
| Frameshift | No | |||||||||
| Length of protein | Normal | |||||||||
| Pathogenic variant (ClinVar) |
| |||||||||
| 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 | 23 | |||||||||
| Strand | -1 | |||||||||
| Original gDNA sequence snippet | CCCTGCCTGAAGGCTGGACACGGAAGCTTAAGCAAAGGAAA | |||||||||
| Altered gDNA sequence snippet | CCCTGCCTGAAGGCTGGACATGGAAGCTTAAGCAAAGGAAA | |||||||||
| Original cDNA sequence snippet | CCCTGCCTGAAGGCTGGACACGGAAGCTTAAGCAAAGGAAA | |||||||||
| Altered cDNA sequence snippet | CCCTGCCTGAAGGCTGGACATGGAAGCTTAAGCAAAGGAAA | |||||||||
| Wildtype AA sequence | MVAGMLGLRE EKSEDQDLQG LKDKPLKFKK VKKDKKEEKE GKHEPVQPSA HHSAEPAEAG KAETSEGSGS APAVPEASAS PKQRRSIIRD RGPMYDDPTL PEGWTRKLKQ RKSGRSAGKY DVYLINPQGK AFRSKVELIA YFEKVGDTSL DPNDFDFTVT GRGSPSRREQ KPPKKPKSPK APGTGRGRGR PKGSGTTRPK AATSEGVQVK RVLEKSPGKL LVKMPFQTSP GGKAEGGGAT TSTQVMVIKR PGRKRKAEAD PQAIPKKRGR KPGSVVAAAA AEAKKKAVKE SSIRSVQETV LPIKKRKTRE TVSIEVKEVV KPLLVSTLGE KSGKGLKTCK SPGRKSKESS PKGRSSSASS PPKKEHHHHH HHSESPKAPV PLLPPLPPPP PEPESSEDPT SPPEPQDLSS SVCKEEKMPR GGSLESDGCP KEPAKTQPAV ATAATAAEKY KHRGEGERKD IVSSSMPRPN REEPVDSRTP VTERVS* | |||||||||
| Mutated AA sequence | MVAGMLGLRE EKSEDQDLQG LKDKPLKFKK VKKDKKEEKE GKHEPVQPSA HHSAEPAEAG KAETSEGSGS APAVPEASAS PKQRRSIIRD RGPMYDDPTL PEGWTWKLKQ RKSGRSAGKY DVYLINPQGK AFRSKVELIA YFEKVGDTSL DPNDFDFTVT GRGSPSRREQ KPPKKPKSPK APGTGRGRGR PKGSGTTRPK AATSEGVQVK RVLEKSPGKL LVKMPFQTSP GGKAEGGGAT TSTQVMVIKR PGRKRKAEAD PQAIPKKRGR KPGSVVAAAA AEAKKKAVKE SSIRSVQETV LPIKKRKTRE TVSIEVKEVV KPLLVSTLGE KSGKGLKTCK SPGRKSKESS PKGRSSSASS PPKKEHHHHH HHSESPKAPV PLLPPLPPPP PEPESSEDPT SPPEPQDLSS SVCKEEKMPR GGSLESDGCP KEPAKTQPAV ATAATAAEKY KHRGEGERKD IVSSSMPRPN REEPVDSRTP VTERVS* | |||||||||
| Position of stopcodon in wt / mu CDS | 1461 / 1461 | |||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 487 / 487 | |||||||||
| Position of stopcodon in wt / mu cDNA | 1658 / 1658 | |||||||||
| Position of start ATG in wt / mu cDNA | 198 / 198 | |||||||||
| Last intron/exon boundary | 574 | |||||||||
| Theoretical NMD boundary in CDS | 326 | |||||||||
| Length of CDS | 1461 | |||||||||
| Coding sequence (CDS) position | 316 | |||||||||
| cDNA position | 513 | |||||||||
| gDNA position | 104836 | |||||||||
| Chromosomal position | 154032268 | |||||||||
| Speed | 0.36 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 | ChrX:154032268G>A (GRCh38) | |||||||||
| Gene symbol | MECP2 | |||||||||
| Gene constraints | no data | |||||||||
| Ensembl transcript ID | ENST00000415944.4 | |||||||||
| Genbank transcript ID | ||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||
| Variant type | Single base exchange | |||||||||
| Gene region | CDS | |||||||||
| DNA changes | c.316C>T g.104836C>T | |||||||||
| AA changes |
| |||||||||
| Frameshift | No | |||||||||
| Length of protein | Normal | |||||||||
| Pathogenic variant (ClinVar) |
| |||||||||
| 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 | 23 | |||||||||
| Strand | -1 | |||||||||
| Original gDNA sequence snippet | CCCTGCCTGAAGGCTGGACACGGAAGCTTAAGCAAAGGAAA | |||||||||
| Altered gDNA sequence snippet | CCCTGCCTGAAGGCTGGACATGGAAGCTTAAGCAAAGGAAA | |||||||||
| Original cDNA sequence snippet | CCCTGCCTGAAGGCTGGACACGGAAGCTTAAGCAAAGGAAA | |||||||||
| Altered cDNA sequence snippet | CCCTGCCTGAAGGCTGGACATGGAAGCTTAAGCAAAGGAAA | |||||||||
| Wildtype AA sequence | MVAGMLGLRE EKSEDQDLQG LKDKPLKFKK VKKDKKEEKE GKHEPVQPSA HHSAEPAEAG KAETSEGSGS APAVPEASAS PKQRRSIIRD RGPMYDDPTL PEGWTRKLKQ RKSGRSAGKY DVYLINPQGK AFRSKVELIA YFEKLQELAE AGDAPKGAAP RDPRRPRQRV CR* | |||||||||
| Mutated AA sequence | MVAGMLGLRE EKSEDQDLQG LKDKPLKFKK VKKDKKEEKE GKHEPVQPSA HHSAEPAEAG KAETSEGSGS APAVPEASAS PKQRRSIIRD RGPMYDDPTL PEGWTWKLKQ RKSGRSAGKY DVYLINPQGK AFRSKVELIA YFEKLQELAE AGDAPKGAAP RDPRRPRQRV CR* | |||||||||
| Position of stopcodon in wt / mu CDS | 519 / 519 | |||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 173 / 173 | |||||||||
| Position of stopcodon in wt / mu cDNA | 941 / 941 | |||||||||
| Position of start ATG in wt / mu cDNA | 423 / 423 | |||||||||
| Last intron/exon boundary | 854 | |||||||||
| Theoretical NMD boundary in CDS | 381 | |||||||||
| Length of CDS | 519 | |||||||||
| Coding sequence (CDS) position | 316 | |||||||||
| cDNA position | 738 | |||||||||
| gDNA position | 104836 | |||||||||
| Chromosomal position | 154032268 | |||||||||
| Speed | 0.34 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 | ChrX:154032268G>A (GRCh38) | |||||||||||||||||||||||||||||||
| Gene symbol | MECP2 | |||||||||||||||||||||||||||||||
| Gene constraints | no data | |||||||||||||||||||||||||||||||
| Ensembl transcript ID | ENST00000303391.11 | |||||||||||||||||||||||||||||||
| Genbank transcript ID | NM_004992 (exact from MANE), NM_001369394 (by similarity), NM_001386138 (by similarity), NM_001386137 (by similarity), NM_001369392 (by similarity), NM_001316337 (by similarity) | |||||||||||||||||||||||||||||||
| UniProt / AlphaMissense peptide | MECP2_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||||||||||||
| DNA changes | c.316C>T g.104836C>T | |||||||||||||||||||||||||||||||
| AA changes |
| |||||||||||||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||||||||||||
| Length of protein | Normal | |||||||||||||||||||||||||||||||
| Pathogenic variant (ClinVar) |
| |||||||||||||||||||||||||||||||
| 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 | 23 | |||||||||||||||||||||||||||||||
| Strand | -1 | |||||||||||||||||||||||||||||||
| Original gDNA sequence snippet | CCCTGCCTGAAGGCTGGACACGGAAGCTTAAGCAAAGGAAA | |||||||||||||||||||||||||||||||
| Altered gDNA sequence snippet | CCCTGCCTGAAGGCTGGACATGGAAGCTTAAGCAAAGGAAA | |||||||||||||||||||||||||||||||
| Original cDNA sequence snippet | CCCTGCCTGAAGGCTGGACACGGAAGCTTAAGCAAAGGAAA | |||||||||||||||||||||||||||||||
| Altered cDNA sequence snippet | CCCTGCCTGAAGGCTGGACATGGAAGCTTAAGCAAAGGAAA | |||||||||||||||||||||||||||||||
| Wildtype AA sequence | MVAGMLGLRE EKSEDQDLQG LKDKPLKFKK VKKDKKEEKE GKHEPVQPSA HHSAEPAEAG KAETSEGSGS APAVPEASAS PKQRRSIIRD RGPMYDDPTL PEGWTRKLKQ RKSGRSAGKY DVYLINPQGK AFRSKVELIA YFEKVGDTSL DPNDFDFTVT GRGSPSRREQ KPPKKPKSPK APGTGRGRGR PKGSGTTRPK AATSEGVQVK RVLEKSPGKL LVKMPFQTSP GGKAEGGGAT TSTQVMVIKR PGRKRKAEAD PQAIPKKRGR KPGSVVAAAA AEAKKKAVKE SSIRSVQETV LPIKKRKTRE TVSIEVKEVV KPLLVSTLGE KSGKGLKTCK SPGRKSKESS PKGRSSSASS PPKKEHHHHH HHSESPKAPV PLLPPLPPPP PEPESSEDPT SPPEPQDLSS SVCKEEKMPR GGSLESDGCP KEPAKTQPAV ATAATAAEKY KHRGEGERKD IVSSSMPRPN REEPVDSRTP VTERVS* | |||||||||||||||||||||||||||||||
| Mutated AA sequence | MVAGMLGLRE EKSEDQDLQG LKDKPLKFKK VKKDKKEEKE GKHEPVQPSA HHSAEPAEAG KAETSEGSGS APAVPEASAS PKQRRSIIRD RGPMYDDPTL PEGWTWKLKQ RKSGRSAGKY DVYLINPQGK AFRSKVELIA YFEKVGDTSL DPNDFDFTVT GRGSPSRREQ KPPKKPKSPK APGTGRGRGR PKGSGTTRPK AATSEGVQVK RVLEKSPGKL LVKMPFQTSP GGKAEGGGAT TSTQVMVIKR PGRKRKAEAD PQAIPKKRGR KPGSVVAAAA AEAKKKAVKE SSIRSVQETV LPIKKRKTRE TVSIEVKEVV KPLLVSTLGE KSGKGLKTCK SPGRKSKESS PKGRSSSASS PPKKEHHHHH HHSESPKAPV PLLPPLPPPP PEPESSEDPT SPPEPQDLSS SVCKEEKMPR GGSLESDGCP KEPAKTQPAV ATAATAAEKY KHRGEGERKD IVSSSMPRPN REEPVDSRTP VTERVS* | |||||||||||||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 1461 / 1461 | |||||||||||||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 487 / 487 | |||||||||||||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 1673 / 1673 | |||||||||||||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 213 / 213 | |||||||||||||||||||||||||||||||
| Last intron/exon boundary | 589 | |||||||||||||||||||||||||||||||
| Theoretical NMD boundary in CDS | 326 | |||||||||||||||||||||||||||||||
| Length of CDS | 1461 | |||||||||||||||||||||||||||||||
| Coding sequence (CDS) position | 316 | |||||||||||||||||||||||||||||||
| cDNA position | 528 | |||||||||||||||||||||||||||||||
| gDNA position | 104836 | |||||||||||||||||||||||||||||||
| Chromosomal position | 154032268 | |||||||||||||||||||||||||||||||
| Speed | 0.37 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 | ChrX:154032268G>A (GRCh38) | |||||||||
| Gene symbol | MECP2 | |||||||||
| Gene constraints | no data | |||||||||
| Ensembl transcript ID | ENST00000628176.2 | |||||||||
| Genbank transcript ID | ||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||
| Variant type | Single base exchange | |||||||||
| Gene region | CDS | |||||||||
| DNA changes | c.316C>T g.104836C>T | |||||||||
| AA changes |
| |||||||||
| Frameshift | No | |||||||||
| Length of protein | Normal | |||||||||
| Pathogenic variant (ClinVar) |
| |||||||||
| 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 | 23 | |||||||||
| Strand | -1 | |||||||||
| Original gDNA sequence snippet | CCCTGCCTGAAGGCTGGACACGGAAGCTTAAGCAAAGGAAA | |||||||||
| Altered gDNA sequence snippet | CCCTGCCTGAAGGCTGGACATGGAAGCTTAAGCAAAGGAAA | |||||||||
| Original cDNA sequence snippet | CCCTGCCTGAAGGCTGGACACGGAAGCTTAAGCAAAGGAAA | |||||||||
| Altered cDNA sequence snippet | CCCTGCCTGAAGGCTGGACATGGAAGCTTAAGCAAAGGAAA | |||||||||
| Wildtype AA sequence | MVAGMLGLRE EKSEDQDLQG LKDKPLKFKK VKKDKKEEKE GKHEPVQPSA HHSAEPAEAG KAETSEGSGS APAVPEASAS PKQRRSIIRD RGPMYDDPTL PEGWTRKLKQ RKSGRSAGKY DVYLINPQGK AFRSKVELIA YFEKLQELAE AGDAPKGAAP RDPRRPRQRV CR* | |||||||||
| Mutated AA sequence | MVAGMLGLRE EKSEDQDLQG LKDKPLKFKK VKKDKKEEKE GKHEPVQPSA HHSAEPAEAG KAETSEGSGS APAVPEASAS PKQRRSIIRD RGPMYDDPTL PEGWTWKLKQ RKSGRSAGKY DVYLINPQGK AFRSKVELIA YFEKLQELAE AGDAPKGAAP RDPRRPRQRV CR* | |||||||||
| Position of stopcodon in wt / mu CDS | 519 / 519 | |||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 173 / 173 | |||||||||
| Position of stopcodon in wt / mu cDNA | 751 / 751 | |||||||||
| Position of start ATG in wt / mu cDNA | 233 / 233 | |||||||||
| Last intron/exon boundary | 664 | |||||||||
| Theoretical NMD boundary in CDS | 381 | |||||||||
| Length of CDS | 519 | |||||||||
| Coding sequence (CDS) position | 316 | |||||||||
| cDNA position | 548 | |||||||||
| gDNA position | 104836 | |||||||||
| Chromosomal position | 154032268 | |||||||||
| Speed | 0.33 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 | ChrX:154032268G>A (GRCh38) | |||||||||
| Gene symbol | MECP2 | |||||||||
| Gene constraints | no data | |||||||||
| Ensembl transcript ID | ENST00000637917.2 | |||||||||
| Genbank transcript ID | ||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||
| Variant type | Single base exchange | |||||||||
| Gene region | CDS | |||||||||
| DNA changes | c.316C>T g.104836C>T | |||||||||
| AA changes |
| |||||||||
| Frameshift | No | |||||||||
| Length of protein | Normal | |||||||||
| Pathogenic variant (ClinVar) |
| |||||||||
| 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 | 23 | |||||||||
| Strand | -1 | |||||||||
| Original gDNA sequence snippet | CCCTGCCTGAAGGCTGGACACGGAAGCTTAAGCAAAGGAAA | |||||||||
| Altered gDNA sequence snippet | CCCTGCCTGAAGGCTGGACATGGAAGCTTAAGCAAAGGAAA | |||||||||
| Original cDNA sequence snippet | CCCTGCCTGAAGGCTGGACACGGAAGCTTAAGCAAAGGAAA | |||||||||
| Altered cDNA sequence snippet | CCCTGCCTGAAGGCTGGACATGGAAGCTTAAGCAAAGGAAA | |||||||||
| Wildtype AA sequence | MVAGMLGLRE EKSEDQDLQG LKDKPLKFKK VKKDKKEEKE GKHEPVQPSA HHSAEPAEAG KAETSEGSGS APAVPEASAS PKQRRSIIRD RGPMYDDPTL PEGWTRKLKQ RKSGRSAGKY DVYLINPQGK AFRSKVELIA YFEKETVLPI KKRKTRETVS IEVKEVVKPL LVSTLGEKSG KGLKTCKSPG RKSKESSPKG RSSSASSPPK KEHHHHHHHS ESPKAPVPLL PPLPPPPPEP ESSEDPTSPP EPQDLSSSVC KEEKMPRGGS LESDGCPKEP AKTQPAVATA ATAAEKYKHR GEGERKDIVS SSMPRPNREE PVDSRTPVTE RVS* | |||||||||
| Mutated AA sequence | MVAGMLGLRE EKSEDQDLQG LKDKPLKFKK VKKDKKEEKE GKHEPVQPSA HHSAEPAEAG KAETSEGSGS APAVPEASAS PKQRRSIIRD RGPMYDDPTL PEGWTWKLKQ RKSGRSAGKY DVYLINPQGK AFRSKVELIA YFEKETVLPI KKRKTRETVS IEVKEVVKPL LVSTLGEKSG KGLKTCKSPG RKSKESSPKG RSSSASSPPK KEHHHHHHHS ESPKAPVPLL PPLPPPPPEP ESSEDPTSPP EPQDLSSSVC KEEKMPRGGS LESDGCPKEP AKTQPAVATA ATAAEKYKHR GEGERKDIVS SSMPRPNREE PVDSRTPVTE RVS* | |||||||||
| Position of stopcodon in wt / mu CDS | 1002 / 1002 | |||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 334 / 334 | |||||||||
| Position of stopcodon in wt / mu cDNA | 1234 / 1234 | |||||||||
| Position of start ATG in wt / mu cDNA | 233 / 233 | |||||||||
| Last intron/exon boundary | 664 | |||||||||
| Theoretical NMD boundary in CDS | 381 | |||||||||
| Length of CDS | 1002 | |||||||||
| Coding sequence (CDS) position | 316 | |||||||||
| cDNA position | 548 | |||||||||
| gDNA position | 104836 | |||||||||
| Chromosomal position | 154032268 | |||||||||
| Speed | 0.34 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 | ChrX:154032268G>A (GRCh38) | |||||||||
| Gene symbol | MECP2 | |||||||||
| Gene constraints | no data | |||||||||
| Ensembl transcript ID | ENST00000407218.5 | |||||||||
| Genbank transcript ID | ||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||
| Variant type | Single base exchange | |||||||||
| Gene region | CDS | |||||||||
| DNA changes | c.352C>T g.104836C>T | |||||||||
| AA changes |
| |||||||||
| Frameshift | No | |||||||||
| Length of protein | Normal | |||||||||
| Pathogenic variant (ClinVar) |
| |||||||||
| 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 | 23 | |||||||||
| Strand | -1 | |||||||||
| Original gDNA sequence snippet | CCCTGCCTGAAGGCTGGACACGGAAGCTTAAGCAAAGGAAA | |||||||||
| Altered gDNA sequence snippet | CCCTGCCTGAAGGCTGGACATGGAAGCTTAAGCAAAGGAAA | |||||||||
| Original cDNA sequence snippet | CCCTGCCTGAAGGCTGGACACGGAAGCTTAAGCAAAGGAAA | |||||||||
| Altered cDNA sequence snippet | CCCTGCCTGAAGGCTGGACATGGAAGCTTAAGCAAAGGAAA | |||||||||
| Wildtype AA sequence | MAAAAAAAPS GGGGGGEEER LEEKSEDQDL QGLKDKPLKF KKVKKDKKEE KEGKHEPVQP SAHHSAEPAE AGKAETSEGS GSAPAVPEAS ASPKQRRSII RDRGPMYDDP TLPEGWTRKL KQRKSGRSAG KYDVYLINPQ GKAFRSKVEL IAYFEKLQEL AEAGDAPKGA APRDPRRPRQ RVCR* | |||||||||
| Mutated AA sequence | MAAAAAAAPS GGGGGGEEER LEEKSEDQDL QGLKDKPLKF KKVKKDKKEE KEGKHEPVQP SAHHSAEPAE AGKAETSEGS GSAPAVPEAS ASPKQRRSII RDRGPMYDDP TLPEGWTWKL KQRKSGRSAG KYDVYLINPQ GKAFRSKVEL IAYFEKLQEL AEAGDAPKGA APRDPRRPRQ RVCR* | |||||||||
| Position of stopcodon in wt / mu CDS | 555 / 555 | |||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 185 / 185 | |||||||||
| Position of stopcodon in wt / mu cDNA | 579 / 579 | |||||||||
| Position of start ATG in wt / mu cDNA | 25 / 25 | |||||||||
| Last intron/exon boundary | 492 | |||||||||
| Theoretical NMD boundary in CDS | 417 | |||||||||
| Length of CDS | 555 | |||||||||
| Coding sequence (CDS) position | 352 | |||||||||
| cDNA position | 376 | |||||||||
| gDNA position | 104836 | |||||||||
| Chromosomal position | 154032268 | |||||||||
| 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