| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| COL11A1 | Deleterious | 157|43 | without_ | Yes | Single base exchange | N/A |
| ||||||
| COL11A1 | Deleterious | 159|41 | without_ | Yes | Single base exchange | N/A |
| ||||||
ENST00000370096(MANE Select) | COL11A1 | Deleterious | 159|41 | without_ | Yes | Single base exchange | N/A |
| |||||
| COL11A1 | Deleterious | 161|39 | without_ | Yes | Single base exchange | N/A |
|
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr1:102965484T>C (GRCh38) | |||||||||||||
| Gene symbol | COL11A1 | |||||||||||||
| Gene constraints | LOEUF: 0.34, LOF (oe): 0.27, misssense (oe): 0.93, synonymous (oe): 1.07 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000353414.8 | |||||||||||||
| Genbank transcript ID | NM_001190709 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | COBA1_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.2799+3A>G g.143389A>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 | MaxEntScan:
| |||||||||||||
| Distance from splice site | 3 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCC | |||||||||||||
| Altered gDNA sequence snippet | GGAGTGGTTGGACCACAGGTGTGTTCCTTTGCTTTATTTCC | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MEPWSSRWKT KRWLWDFTVT TLALTFLFQA REVRGAAPVD VLKALDFHNS PEGISKTTGF CTNRKNSKGS DTAYRVSKQA QLSAPTKQLF PGGTFPEDFS ILFTVKPKKG IQSFLLSIYN EHGIQQIGVE VGRSPVFLFE DHTGKPAPED YPLFRTVNIA DGKWHRVAIS VEKKTVTMIV DCKKKTTKPL DRSERAIVDT NGITVFGTRI LDEEVFEGDI QQFLITGDPK AAYDYCEHYS PDCDSSAPKA AQAQEPQIDE ANIVDDFQEY NYGTMESYQT EAPRHVSGTN EPNPVEEIFT EEYLTGEDYD SQRKNSEDTL YENKEIDGRD SDLLVDGDLG EYDFYEYKEY EDKPTSPPNE EFGPGVPAET DITETSINGH GAYGEKGQKG EPAVVEPGML VEGPPGPAGP AGIMGPPGLQ GPTGPPGDPG DRGPPGRPGL PGADGLPGPP GTMLMLPFRY GGDGSKGPTI SAQEAQAQAI LQQARIALRG PPGPMGLTGR PGPVGGPGSS GAKGESGDPG PQGPRGVQGP PGPTGKPGKR GRPGADGGRG MPGEPGAKGD RGFDGLPGLP GDKGHRGERG PQGPPGPPGD DGMRGEDGEI GPRGLPGEAG PRGLLGPRGT PGAPGQPGMA GVDGPPGPKG NMGPQGEPGP PGQQGNPGPQ GLPGPQGPIG PPGEKGPQGK PGLAGLPGAD GPPGHPGKEG QSGEKGALGP PGPQGPIGYP GPRGVKGADG VRGLKGSKGE KGEDGFPGFK GDMGLKGDRG EVGQIGPRGE DGPEGPKGRA GPTGDPGPSG QAGEKGKLGV PGLPGYPGRQ GPKGSTGFPG FPGANGEKGA RGVAGKPGPR GQRGPTGPRG SRGARGPTGK PGPKGTSGGD GPPGPPGERG PQGPQGPVGF PGPKGPPGPP GKDGLPGHPG QRGETGFQGK TGPPGPGGVV GPQGPTGETG PIGERGHPGP PGPPGEQGLP GAAGKEGAKG DPGPQGISGK DGPAGLRGFP GERGLPGAQG APGLKGGEGP QGPPGPVGSP GERGSAGTAG PIGLPGRPGP QGPPGPAGEK GAPGEKGPQG PAGRDGVQGP VGLPGPAGPA GSPGEDGDKG EIGEPGQKGS KGDKGENGPP GPPGLQGPVG APGIAGGDGE PGPRGQQGMF GQKGDEGARG FPGPPGPIGL QGLPGPPGEK GENGDVGPMG PPGPPGPRGP QGPNGADGPQ GPPGSVGSVG GVGEKGEPGE AGNPGPPGEA GVGGPKGERG EKGEAGPPGA AGPPGAKGPP GDDGPKGNPG PVGFPGDPGP PGEPGPAGQD GVGGDKGEDG DPGQPGPPGP SGEAGPPGPP GKRGPPGAAG AEGRQGEKGA KGEAGAEGPP GKTGPVGPQG PAGKPGPEGL RGIPGPVGEQ GLPGAAGQDG PPGPMGPPGL PGLKGDPGSK GEKGHPGLIG LIGPPGEQGE KGDRGLPGTQ GSPGAKGDGG IPGPAGPLGP PGPPGLPGPQ GPKGNKGSTG PAGQKGDSGL PGPPGSPGPP GEVIQPLPIL SSKKTRRHTE GMQADADDNI LDYSDGMEEI FGSLNSLKQD IEHMKFPMGT QTNPARTCKD LQLSHPDFPD GEYWIDPNQG CSGDSFKVYC NFTSGGETCI YPDKKSEGVR ISSWPKEKPG SWFSEFKRGK LLSYLDVEGN SINMVQMTFL KLLTASARQN FTYHCHQSAA WYDVSSGSYD KALRFLGSND EEMSYDNNPF IKTLYDGCAS RKGYEKTVIE INTPKIDQVP IVDVMINDFG DQNQKFGFEV GPVCFLG* | |||||||||||||
| 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 | 319 / 319 | |||||||||||||
| Last intron/exon boundary | 5475 | |||||||||||||
| Theoretical NMD boundary in CDS | 5106 | |||||||||||||
| Length of CDS | 5304 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 143389 | |||||||||||||
| Chromosomal position | 102965484 | |||||||||||||
| 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 | Chr1:102965484T>C (GRCh38) | |||||||||||||
| Gene symbol | COL11A1 | |||||||||||||
| Gene constraints | LOEUF: 0.38, LOF (oe): 0.30, misssense (oe): 0.95, synonymous (oe): 1.07 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000358392.6 | |||||||||||||
| Genbank transcript ID | NM_080629 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | COBA1_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.2952+3A>G g.143389A>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 | MaxEntScan:
| |||||||||||||
| Distance from splice site | 3 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCC | |||||||||||||
| Altered gDNA sequence snippet | GGAGTGGTTGGACCACAGGTGTGTTCCTTTGCTTTATTTCC | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MEPWSSRWKT KRWLWDFTVT TLALTFLFQA REVRGAAPVD VLKALDFHNS PEGISKTTGF CTNRKNSKGS DTAYRVSKQA QLSAPTKQLF PGGTFPEDFS ILFTVKPKKG IQSFLLSIYN EHGIQQIGVE VGRSPVFLFE DHTGKPAPED YPLFRTVNIA DGKWHRVAIS VEKKTVTMIV DCKKKTTKPL DRSERAIVDT NGITVFGTRI LDEEVFEGDI QQFLITGDPK AAYDYCEHYS PDCDSSAPKA AQAQEPQIDE KKKSNFKKKM RTVATKSKEK SKKFTPPKSE KFSSKKKKSY QASAKAKLGV KANIVDDFQE YNYGTMESYQ TEAPRHVSGT NEPNPVEEIF TEEYLTGEDY DSQRKNSEDT LYENKEIDGR DSDLLVDGDL GEYDFYEYKE YEDKPTSPPN EEFGPGVPAE TDITETSING HGAYGEKGQK GEPAVVEPGM LVEGPPGPAG PAGIMGPPGL QGPTGPPGDP GDRGPPGRPG LPGADGLPGP PGTMLMLPFR YGGDGSKGPT ISAQEAQAQA ILQQARIALR GPPGPMGLTG RPGPVGGPGS SGAKGESGDP GPQGPRGVQG PPGPTGKPGK RGRPGADGGR GMPGEPGAKG DRGFDGLPGL PGDKGHRGER GPQGPPGPPG DDGMRGEDGE IGPRGLPGEA GPRGLLGPRG TPGAPGQPGM AGVDGPPGPK GNMGPQGEPG PPGQQGNPGP QGLPGPQGPI GPPGEKGPQG KPGLAGLPGA DGPPGHPGKE GQSGEKGALG PPGPQGPIGY PGPRGVKGAD GVRGLKGSKG EKGEDGFPGF KGDMGLKGDR GEVGQIGPRG EDGPEGPKGR AGPTGDPGPS GQAGEKGKLG VPGLPGYPGR QGPKGSTGFP GFPGANGEKG ARGVAGKPGP RGQRGPTGPR GSRGARGPTG KPGPKGTSGG DGPPGPPGER GPQGPQGPVG FPGPKGPPGP PGKDGLPGHP GQRGETGFQG KTGPPGPGGV VGPQGPTGET GPIGERGHPG PPGPPGEQGL PGAAGKEGAK GDPGPQGISG KDGPAGLRGF PGERGLPGAQ GAPGLKGGEG PQGPPGPVGS PGERGSAGTA GPIGLPGRPG PQGPPGPAGE KGAPGEKGPQ GPAGRDGVQG PVGLPGPAGP AGSPGEDGDK GEIGEPGQKG SKGDKGENGP PGPPGLQGPV GAPGIAGGDG EPGPRGQQGM FGQKGDEGAR GFPGPPGPIG LQGLPGPPGE KGENGDVGPM GPPGPPGPRG PQGPNGADGP QGPPGSVGSV GGVGEKGEPG EAGNPGPPGE AGVGGPKGER GEKGEAGPPG AAGPPGAKGP PGDDGPKGNP GPVGFPGDPG PPGEPGPAGQ DGVGGDKGED GDPGQPGPPG PSGEAGPPGP PGKRGPPGAA GAEGRQGEKG AKGEAGAEGP PGKTGPVGPQ GPAGKPGPEG LRGIPGPVGE QGLPGAAGQD GPPGPMGPPG LPGLKGDPGS KGEKGHPGLI GLIGPPGEQG EKGDRGLPGT QGSPGAKGDG GIPGPAGPLG PPGPPGLPGP QGPKGNKGST GPAGQKGDSG LPGPPGSPGP PGEVIQPLPI LSSKKTRRHT EGMQADADDN ILDYSDGMEE IFGSLNSLKQ DIEHMKFPMG TQTNPARTCK DLQLSHPDFP DGEYWIDPNQ GCSGDSFKVY CNFTSGGETC IYPDKKSEGV RISSWPKEKP GSWFSEFKRG KLLSYLDVEG NSINMVQMTF LKLLTASARQ NFTYHCHQSA AWYDVSSGSY DKALRFLGSN DEEMSYDNNP FIKTLYDGCA SRKGYEKTVI EINTPKIDQV PIVDVMINDF GDQNQKFGFE VGPVCFLG* | |||||||||||||
| 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 | 319 / 319 | |||||||||||||
| Last intron/exon boundary | 5628 | |||||||||||||
| Theoretical NMD boundary in CDS | 5259 | |||||||||||||
| Length of CDS | 5457 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 143389 | |||||||||||||
| Chromosomal position | 102965484 | |||||||||||||
| 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 | Chr1:102965484T>C (GRCh38) | |||||||||||||
| Gene symbol | COL11A1 | |||||||||||||
| Gene constraints | LOEUF: 0.35, LOF (oe): 0.28, misssense (oe): 0.94, synonymous (oe): 1.07 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000370096.9 | |||||||||||||
| Genbank transcript ID | NM_001854 (exact from MANE) | |||||||||||||
| UniProt / AlphaMissense peptide | COBA1_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.2916+3A>G g.143389A>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 | MaxEntScan:
| |||||||||||||
| Distance from splice site | 3 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCC | |||||||||||||
| Altered gDNA sequence snippet | GGAGTGGTTGGACCACAGGTGTGTTCCTTTGCTTTATTTCC | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MEPWSSRWKT KRWLWDFTVT TLALTFLFQA REVRGAAPVD VLKALDFHNS PEGISKTTGF CTNRKNSKGS DTAYRVSKQA QLSAPTKQLF PGGTFPEDFS ILFTVKPKKG IQSFLLSIYN EHGIQQIGVE VGRSPVFLFE DHTGKPAPED YPLFRTVNIA DGKWHRVAIS VEKKTVTMIV DCKKKTTKPL DRSERAIVDT NGITVFGTRI LDEEVFEGDI QQFLITGDPK AAYDYCEHYS PDCDSSAPKA AQAQEPQIDE YAPEDIIEYD YEYGEAEYKE AESVTEGPTV TEETIAQTEA NIVDDFQEYN YGTMESYQTE APRHVSGTNE PNPVEEIFTE EYLTGEDYDS QRKNSEDTLY ENKEIDGRDS DLLVDGDLGE YDFYEYKEYE DKPTSPPNEE FGPGVPAETD ITETSINGHG AYGEKGQKGE PAVVEPGMLV EGPPGPAGPA GIMGPPGLQG PTGPPGDPGD RGPPGRPGLP GADGLPGPPG TMLMLPFRYG GDGSKGPTIS AQEAQAQAIL QQARIALRGP PGPMGLTGRP GPVGGPGSSG AKGESGDPGP QGPRGVQGPP GPTGKPGKRG RPGADGGRGM PGEPGAKGDR GFDGLPGLPG DKGHRGERGP QGPPGPPGDD GMRGEDGEIG PRGLPGEAGP RGLLGPRGTP GAPGQPGMAG VDGPPGPKGN MGPQGEPGPP GQQGNPGPQG LPGPQGPIGP PGEKGPQGKP GLAGLPGADG PPGHPGKEGQ SGEKGALGPP GPQGPIGYPG PRGVKGADGV RGLKGSKGEK GEDGFPGFKG DMGLKGDRGE VGQIGPRGED GPEGPKGRAG PTGDPGPSGQ AGEKGKLGVP GLPGYPGRQG PKGSTGFPGF PGANGEKGAR GVAGKPGPRG QRGPTGPRGS RGARGPTGKP GPKGTSGGDG PPGPPGERGP QGPQGPVGFP GPKGPPGPPG KDGLPGHPGQ RGETGFQGKT GPPGPGGVVG PQGPTGETGP IGERGHPGPP GPPGEQGLPG AAGKEGAKGD PGPQGISGKD GPAGLRGFPG ERGLPGAQGA PGLKGGEGPQ GPPGPVGSPG ERGSAGTAGP IGLPGRPGPQ GPPGPAGEKG APGEKGPQGP AGRDGVQGPV GLPGPAGPAG SPGEDGDKGE IGEPGQKGSK GDKGENGPPG PPGLQGPVGA PGIAGGDGEP GPRGQQGMFG QKGDEGARGF PGPPGPIGLQ GLPGPPGEKG ENGDVGPMGP PGPPGPRGPQ GPNGADGPQG PPGSVGSVGG VGEKGEPGEA GNPGPPGEAG VGGPKGERGE KGEAGPPGAA GPPGAKGPPG DDGPKGNPGP VGFPGDPGPP GEPGPAGQDG VGGDKGEDGD PGQPGPPGPS GEAGPPGPPG KRGPPGAAGA EGRQGEKGAK GEAGAEGPPG KTGPVGPQGP AGKPGPEGLR GIPGPVGEQG LPGAAGQDGP PGPMGPPGLP GLKGDPGSKG EKGHPGLIGL IGPPGEQGEK GDRGLPGTQG SPGAKGDGGI PGPAGPLGPP GPPGLPGPQG PKGNKGSTGP AGQKGDSGLP GPPGSPGPPG EVIQPLPILS SKKTRRHTEG MQADADDNIL DYSDGMEEIF GSLNSLKQDI EHMKFPMGTQ TNPARTCKDL QLSHPDFPDG EYWIDPNQGC SGDSFKVYCN FTSGGETCIY PDKKSEGVRI SSWPKEKPGS WFSEFKRGKL LSYLDVEGNS INMVQMTFLK LLTASARQNF TYHCHQSAAW YDVSSGSYDK ALRFLGSNDE EMSYDNNPFI KTLYDGCASR KGYEKTVIEI NTPKIDQVPI VDVMINDFGD QNQKFGFEVG PVCFLG* | |||||||||||||
| 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 | 345 / 345 | |||||||||||||
| Last intron/exon boundary | 5618 | |||||||||||||
| Theoretical NMD boundary in CDS | 5223 | |||||||||||||
| Length of CDS | 5421 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 143389 | |||||||||||||
| Chromosomal position | 102965484 | |||||||||||||
| 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 | Chr1:102965484T>C (GRCh38) | |||||||||||||
| Gene symbol | COL11A1 | |||||||||||||
| Gene constraints | LOEUF: 0.33, LOF (oe): 0.26, misssense (oe): 0.93, synonymous (oe): 1.09 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000512756.5 | |||||||||||||
| Genbank transcript ID | NM_080630 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | COBA1_HUMAN | AlphaMissense: transcript, gene | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | intron | |||||||||||||
| DNA changes | c.2568+3A>G g.143389A>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 | MaxEntScan:
| |||||||||||||
| Distance from splice site | 3 | |||||||||||||
| Kozak consensus sequence altered? | N/A | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | N/A | |||||||||||||
| Chromosome | 1 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | GGAGTGGTTGGACCACAGGTATGTTCCTTTGCTTTATTTCC | |||||||||||||
| Altered gDNA sequence snippet | GGAGTGGTTGGACCACAGGTGTGTTCCTTTGCTTTATTTCC | |||||||||||||
| Original cDNA sequence snippet | N/A | |||||||||||||
| Altered cDNA sequence snippet | N/A | |||||||||||||
| Wildtype AA sequence | MEPWSSRWKT KRWLWDFTVT TLALTFLFQA REVRGAAPVD VLKALDFHNS PEGISKTTGF CTNRKNSKGS DTAYRVSKQA QLSAPTKQLF PGGTFPEDFS ILFTVKPKKG IQSFLLSIYN EHGIQQIGVE VGRSPVFLFE DHTGKPAPED YPLFRTVNIA DGKWHRVAIS VEKKTVTMIV DCKKKTTKPL DRSERAIVDT NGITVFGTRI LDEEVFEGDI QQFLITGDPK AAYDYCEHYS PDCDSSAPKA AQAQEPQIDE YAPEDIIEYD YEYGEAEYKE AESVTEGPTV TEETIAQTEI NGHGAYGEKG QKGEPAVVEP GMLVEGPPGP AGPAGIMGPP GLQGPTGPPG DPGDRGPPGR PGLPGADGLP GPPGTMLMLP FRYGGDGSKG PTISAQEAQA QAILQQARIA LRGPPGPMGL TGRPGPVGGP GSSGAKGESG DPGPQGPRGV QGPPGPTGKP GKRGRPGADG GRGMPGEPGA KGDRGFDGLP GLPGDKGHRG ERGPQGPPGP PGDDGMRGED GEIGPRGLPG EAGPRGLLGP RGTPGAPGQP GMAGVDGPPG PKGNMGPQGE PGPPGQQGNP GPQGLPGPQG PIGPPGEKGP QGKPGLAGLP GADGPPGHPG KEGQSGEKGA LGPPGPQGPI GYPGPRGVKG ADGVRGLKGS KGEKGEDGFP GFKGDMGLKG DRGEVGQIGP RGEDGPEGPK GRAGPTGDPG PSGQAGEKGK LGVPGLPGYP GRQGPKGSTG FPGFPGANGE KGARGVAGKP GPRGQRGPTG PRGSRGARGP TGKPGPKGTS GGDGPPGPPG ERGPQGPQGP VGFPGPKGPP GPPGKDGLPG HPGQRGETGF QGKTGPPGPG GVVGPQGPTG ETGPIGERGH PGPPGPPGEQ GLPGAAGKEG AKGDPGPQGI SGKDGPAGLR GFPGERGLPG AQGAPGLKGG EGPQGPPGPV GSPGERGSAG TAGPIGLPGR PGPQGPPGPA GEKGAPGEKG PQGPAGRDGV QGPVGLPGPA GPAGSPGEDG DKGEIGEPGQ KGSKGDKGEN GPPGPPGLQG PVGAPGIAGG DGEPGPRGQQ GMFGQKGDEG ARGFPGPPGP IGLQGLPGPP GEKGENGDVG PMGPPGPPGP RGPQGPNGAD GPQGPPGSVG SVGGVGEKGE PGEAGNPGPP GEAGVGGPKG ERGEKGEAGP PGAAGPPGAK GPPGDDGPKG NPGPVGFPGD PGPPGEPGPA GQDGVGGDKG EDGDPGQPGP PGPSGEAGPP GPPGKRGPPG AAGAEGRQGE KGAKGEAGAE GPPGKTGPVG PQGPAGKPGP EGLRGIPGPV GEQGLPGAAG QDGPPGPMGP PGLPGLKGDP GSKGEKGHPG LIGLIGPPGE QGEKGDRGLP GTQGSPGAKG DGGIPGPAGP LGPPGPPGLP GPQGPKGNKG STGPAGQKGD SGLPGPPGSP GPPGEVIQPL PILSSKKTRR HTEGMQADAD DNILDYSDGM EEIFGSLNSL KQDIEHMKFP MGTQTNPART CKDLQLSHPD FPDGEYWIDP NQGCSGDSFK VYCNFTSGGE TCIYPDKKSE GVRISSWPKE KPGSWFSEFK RGKLLSYLDV EGNSINMVQM TFLKLLTASA RQNFTYHCHQ SAAWYDVSSG SYDKALRFLG SNDEEMSYDN NPFIKTLYDG CASRKGYEKT VIEINTPKID QVPIVDVMIN DFGDQNQKFG FEVGPVCFLG * | |||||||||||||
| 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 | 302 / 302 | |||||||||||||
| Last intron/exon boundary | 5227 | |||||||||||||
| Theoretical NMD boundary in CDS | 4875 | |||||||||||||
| Length of CDS | 5073 | |||||||||||||
| Coding sequence (CDS) position | N/A | |||||||||||||
| cDNA position | N/A | |||||||||||||
| gDNA position | 143389 | |||||||||||||
| Chromosomal position | 102965484 | |||||||||||||
| 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