| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000216181(MANE Select) | MYH9 | Benign | 93|107 | without_ | No | Single base exchange | Normal | ||||||
| MYH9 | Benign | 93|107 | without_ | No | Single base exchange | Normal |
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr22:36312211C>T (GRCh38) | |||||||||||||
| Gene symbol | MYH9 | |||||||||||||
| Gene constraints | LOEUF: 0.16, LOF (oe): 0.12, misssense (oe): 0.67, synonymous (oe): 0.95 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000216181.11 | |||||||||||||
| Genbank transcript ID | NM_002473 (exact from MANE) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1566G>A g.75800G>A | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 12 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 22 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TTCCTCCAGGCAGGCCCCCCGGGCATTCTGGCCCTGCTGGA | |||||||||||||
| Altered gDNA sequence snippet | TTCCTCCAGGCAGGCCCCCCAGGCATTCTGGCCCTGCTGGA | |||||||||||||
| Original cDNA sequence snippet | GAGAAGCCAGCAGGCCCCCCGGGCATTCTGGCCCTGCTGGA | |||||||||||||
| Altered cDNA sequence snippet | GAGAAGCCAGCAGGCCCCCCAGGCATTCTGGCCCTGCTGGA | |||||||||||||
| Wildtype AA sequence | MAQQAADKYL YVDKNFINNP LAQADWAAKK LVWVPSDKSG FEPASLKEEV GEEAIVELVE NGKKVKVNKD DIQKMNPPKF SKVEDMAELT CLNEASVLHN LKERYYSGLI YTYSGLFCVV INPYKNLPIY SEEIVEMYKG KKRHEMPPHI YAITDTAYRS MMQDREDQSI LCTGESGAGK TENTKKVIQY LAYVASSHKS KKDQGELERQ LLQANPILEA FGNAKTVKND NSSRFGKFIR INFDVNGYIV GANIETYLLE KSRAIRQAKE ERTFHIFYYL LSGAGEHLKT DLLLEPYNKY RFLSNGHVTI PGQQDKDMFQ ETMEAMRIMG IPEEEQMGLL RVISGVLQLG NIVFKKERNT DQASMPDNTA AQKVSHLLGI NVTDFTRGIL TPRIKVGRDY VQKAQTKEQA DFAIEALAKA TYERMFRWLV LRINKALDKT KRQGASFIGI LDIAGFEIFD LNSFEQLCIN YTNEKLQQLF NHTMFILEQE EYQREGIEWN FIDFGLDLQP CIDLIEKPAG PPGILALLDE ECWFPKATDK SFVEKVMQEQ GTHPKFQKPK QLKDKADFCI IHYAGKVDYK ADEWLMKNMD PLNDNIATLL HQSSDKFVSE LWKDVDRIIG LDQVAGMSET ALPGAFKTRK GMFRTVGQLY KEQLAKLMAT LRNTNPNFVR CIIPNHEKKA GKLDPHLVLD QLRCNGVLEG IRICRQGFPN RVVFQEFRQR YEILTPNSIP KGFMDGKQAC VLMIKALELD SNLYRIGQSK VFFRAGVLAH LEEERDLKIT DVIIGFQACC RGYLARKAFA KRQQQLTAMK VLQRNCAAYL KLRNWQWWRL FTKVKPLLQV SRQEEEMMAK EEELVKVREK QLAAENRLTE METLQSQLMA EKLQLQEQLQ AETELCAEAE ELRARLTAKK QELEEICHDL EARVEEEEER CQHLQAEKKK MQQNIQELEE QLEEEESARQ KLQLEKVTTE AKLKKLEEEQ IILEDQNCKL AKEKKLLEDR IAEFTTNLTE EEEKSKSLAK LKNKHEAMIT DLEERLRREE KQRQELEKTR RKLEGDSTDL SDQIAELQAQ IAELKMQLAK KEEELQAALA RVEEEAAQKN MALKKIRELE SQISELQEDL ESERASRNKA EKQKRDLGEE LEALKTELED TLDSTAAQQE LRSKREQEVN ILKKTLEEEA KTHEAQIQEM RQKHSQAVEE LAEQLEQTKR VKANLEKAKQ TLENERGELA NEVKVLLQGK GDSEHKRKKV EAQLQELQVK FNEGERVRTE LADKVTKLQV ELDNVTGLLS QSDSKSSKLT KDFSALESQL QDTQELLQEE NRQKLSLSTK LKQVEDEKNS FREQLEEEEE AKHNLEKQIA TLHAQVADMK KKMEDSVGCL ETAEEVKRKL QKDLEGLSQR HEEKVAAYDK LEKTKTRLQQ ELDDLLVDLD HQRQSACNLE KKQKKFDQLL AEEKTISAKY AEERDRAEAE AREKETKALS LARALEEAME QKAELERLNK QFRTEMEDLM SSKDDVGKSV HELEKSKRAL EQQVEEMKTQ LEELEDELQA TEDAKLRLEV NLQAMKAQFE RDLQGRDEQS EEKKKQLVRQ VREMEAELED ERKQRSMAVA ARKKLEMDLK DLEAHIDSAN KNRDEAIKQL RKLQAQMKDC MRELDDTRAS REEILAQAKE NEKKLKSMEA EMIQLQEELA AAERAKRQAQ QERDELADEI ANSSGKGALA LEEKRRLEAR IAQLEEELEE EQGNTELIND RLKKANLQID QINTDLNLER SHAQKNENAR QQLERQNKEL KVKLQEMEGT VKSKYKASIT ALEAKIAQLE EQLDNETKER QAACKQVRRT EKKLKDVLLQ VDDERRNAEQ YKDQADKAST RLKQLKRQLE EAEEEAQRAN ASRRKLQREL EDATETADAM NREVSSLKNK LRRGDLPFVV PRRMARKGAG DGSDEEVDGK ADGAEAKPAE * | |||||||||||||
| Mutated AA sequence | MAQQAADKYL YVDKNFINNP LAQADWAAKK LVWVPSDKSG FEPASLKEEV GEEAIVELVE NGKKVKVNKD DIQKMNPPKF SKVEDMAELT CLNEASVLHN LKERYYSGLI YTYSGLFCVV INPYKNLPIY SEEIVEMYKG KKRHEMPPHI YAITDTAYRS MMQDREDQSI LCTGESGAGK TENTKKVIQY LAYVASSHKS KKDQGELERQ LLQANPILEA FGNAKTVKND NSSRFGKFIR INFDVNGYIV GANIETYLLE KSRAIRQAKE ERTFHIFYYL LSGAGEHLKT DLLLEPYNKY RFLSNGHVTI PGQQDKDMFQ ETMEAMRIMG IPEEEQMGLL RVISGVLQLG NIVFKKERNT DQASMPDNTA AQKVSHLLGI NVTDFTRGIL TPRIKVGRDY VQKAQTKEQA DFAIEALAKA TYERMFRWLV LRINKALDKT KRQGASFIGI LDIAGFEIFD LNSFEQLCIN YTNEKLQQLF NHTMFILEQE EYQREGIEWN FIDFGLDLQP CIDLIEKPAG PPGILALLDE ECWFPKATDK SFVEKVMQEQ GTHPKFQKPK QLKDKADFCI IHYAGKVDYK ADEWLMKNMD PLNDNIATLL HQSSDKFVSE LWKDVDRIIG LDQVAGMSET ALPGAFKTRK GMFRTVGQLY KEQLAKLMAT LRNTNPNFVR CIIPNHEKKA GKLDPHLVLD QLRCNGVLEG IRICRQGFPN RVVFQEFRQR YEILTPNSIP KGFMDGKQAC VLMIKALELD SNLYRIGQSK VFFRAGVLAH LEEERDLKIT DVIIGFQACC RGYLARKAFA KRQQQLTAMK VLQRNCAAYL KLRNWQWWRL FTKVKPLLQV SRQEEEMMAK EEELVKVREK QLAAENRLTE METLQSQLMA EKLQLQEQLQ AETELCAEAE ELRARLTAKK QELEEICHDL EARVEEEEER CQHLQAEKKK MQQNIQELEE QLEEEESARQ KLQLEKVTTE AKLKKLEEEQ IILEDQNCKL AKEKKLLEDR IAEFTTNLTE EEEKSKSLAK LKNKHEAMIT DLEERLRREE KQRQELEKTR RKLEGDSTDL SDQIAELQAQ IAELKMQLAK KEEELQAALA RVEEEAAQKN MALKKIRELE SQISELQEDL ESERASRNKA EKQKRDLGEE LEALKTELED TLDSTAAQQE LRSKREQEVN ILKKTLEEEA KTHEAQIQEM RQKHSQAVEE LAEQLEQTKR VKANLEKAKQ TLENERGELA NEVKVLLQGK GDSEHKRKKV EAQLQELQVK FNEGERVRTE LADKVTKLQV ELDNVTGLLS QSDSKSSKLT KDFSALESQL QDTQELLQEE NRQKLSLSTK LKQVEDEKNS FREQLEEEEE AKHNLEKQIA TLHAQVADMK KKMEDSVGCL ETAEEVKRKL QKDLEGLSQR HEEKVAAYDK LEKTKTRLQQ ELDDLLVDLD HQRQSACNLE KKQKKFDQLL AEEKTISAKY AEERDRAEAE AREKETKALS LARALEEAME QKAELERLNK QFRTEMEDLM SSKDDVGKSV HELEKSKRAL EQQVEEMKTQ LEELEDELQA TEDAKLRLEV NLQAMKAQFE RDLQGRDEQS EEKKKQLVRQ VREMEAELED ERKQRSMAVA ARKKLEMDLK DLEAHIDSAN KNRDEAIKQL RKLQAQMKDC MRELDDTRAS REEILAQAKE NEKKLKSMEA EMIQLQEELA AAERAKRQAQ QERDELADEI ANSSGKGALA LEEKRRLEAR IAQLEEELEE EQGNTELIND RLKKANLQID QINTDLNLER SHAQKNENAR QQLERQNKEL KVKLQEMEGT VKSKYKASIT ALEAKIAQLE EQLDNETKER QAACKQVRRT EKKLKDVLLQ VDDERRNAEQ YKDQADKAST RLKQLKRQLE EAEEEAQRAN ASRRKLQREL EDATETADAM NREVSSLKNK LRRGDLPFVV PRRMARKGAG DGSDEEVDGK ADGAEAKPAE * | |||||||||||||
| Position of stopcodon in wt / mu CDS | 5883 / 5883 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1961 / 1961 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 6063 / 6063 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 181 / 181 | |||||||||||||
| Last intron/exon boundary | 5945 | |||||||||||||
| Theoretical NMD boundary in CDS | 5714 | |||||||||||||
| Length of CDS | 5883 | |||||||||||||
| Coding sequence (CDS) position | 1566 | |||||||||||||
| cDNA position | 1746 | |||||||||||||
| gDNA position | 75800 | |||||||||||||
| Chromosomal position | 36312211 | |||||||||||||
| Speed | 0.03 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 | Chr22:36312211C>T (GRCh38) | |||||||||||||
| Gene symbol | MYH9 | |||||||||||||
| Gene constraints | LOEUF: 0.16, LOF (oe): 0.12, misssense (oe): 0.67, synonymous (oe): 0.95 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000685801.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1566G>A g.75800G>A | |||||||||||||
| AA changes | no AA changes | |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | N/A | |||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | 12 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 22 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TTCCTCCAGGCAGGCCCCCCGGGCATTCTGGCCCTGCTGGA | |||||||||||||
| Altered gDNA sequence snippet | TTCCTCCAGGCAGGCCCCCCAGGCATTCTGGCCCTGCTGGA | |||||||||||||
| Original cDNA sequence snippet | GAGAAGCCAGCAGGCCCCCCGGGCATTCTGGCCCTGCTGGA | |||||||||||||
| Altered cDNA sequence snippet | GAGAAGCCAGCAGGCCCCCCAGGCATTCTGGCCCTGCTGGA | |||||||||||||
| Wildtype AA sequence | MAQQAADKYL YVDKNFINNP LAQADWAAKK LVWVPSDKSG FEPASLKEEV GEEAIVELVE NGKKVKVNKD DIQKMNPPKF SKVEDMAELT CLNEASVLHN LKERYYSGLI YTYSGLFCVV INPYKNLPIY SEEIVEMYKG KKRHEMPPHI YAITDTAYRS MMQDREDQSI LCTGESGAGK TENTKKVIQY LAYVASSHKS KKDQGELERQ LLQANPILEA FGNAKTVKND NSSRFGKFIR INFDVNGYIV GANIETYLLE KSRAIRQAKE ERTFHIFYYL LSGAGEHLKT DLLLEPYNKY RFLSNGHVTI PGQQDKDMFQ ETMEAMRIMG IPEEEQMGLL RVISGVLQLG NIVFKKERNT DQASMPDNTA AQKVSHLLGI NVTDFTRGIL TPRIKVGRDY VQKAQTKEQA DFAIEALAKA TYERMFRWLV LRINKALDKT KRQGASFIGI LDIAGFEIFD LNSFEQLCIN YTNEKLQQLF NHTMFILEQE EYQREGIEWN FIDFGLDLQP CIDLIEKPAG PPGILALLDE ECWFPKATDK SFVEKVMQEQ GTHPKFQKPK QLKDKADFCI IHYAGKVDYK ADEWLMKNMD PLNDNIATLL HQSSDKFVSE LWKDEMQSTQ RAYFYHRFPI LHLEPVDRII GLDQVAGMSE TALPGAFKTR KGMFRTVGQL YKEQLAKLMA TLRNTNPNFV RCIIPNHEKK AGKLDPHLVL DQLRCNGVLE GIRICRQGFP NRVVFQEFRQ RYEILTPNSI PKGFMDGKQA CVLMIKALEL DSNLYRIGQS KVFFRAGVLA HLEEERDLKI TDVIIGFQAC CRGYLARKAF AKRQQQLTAM KVLQRNCAAY LKLRNWQWWR LFTKVKPLLQ VSRQEEEMMA KEEELVKVRE KQLAAENRLT EMETLQSQLM AEKLQLQEQL QAETELCAEA EELRARLTAK KQELEEICHD LEARVEEEEE RCQHLQAEKK KMQQNIQELE EQLEEEESAR QKLQLEKVTT EAKLKKLEEE QIILEDQNCK LAKEKKLLED RIAEFTTNLT EEEEKSKSLA KLKNKHEAMI TDLEERLRRE EKQRQELEKT RRKLEGDSTD LSDQIAELQA QIAELKMQLA KKEEELQAAL ARVEEEAAQK NMALKKIREL ESQISELQED LESERASRNK AEKQKRDLGE ELEALKTELE DTLDSTAAQQ ELRSKREQEV NILKKTLEEE AKTHEAQIQE MRQKHSQAVE ELAEQLEQTK RVKANLEKAK QTLENERGEL ANEVKVLLQG KGDSEHKRKK VEAQLQELQV KFNEGERVRT ELADKVTKLQ VELDNVTGLL SQSDSKSSKL TKDFSALESQ LQDTQELLQE ENRQKLSLST KLKQVEDEKN SFREQLEEEE EAKHNLEKQI ATLHAQVADM KKKMEDSVGC LETAEEVKRK LQKDLEGLSQ RHEEKVAAYD KLEKTKTRLQ QELDDLLVDL DHQRQSACNL EKKQKKFDQL LAEEKTISAK YAEERDRAEA EAREKETKAL SLARALEEAM EQKAELERLN KQFRTEMEDL MSSKDDVGKS VHELEKSKRA LEQQVEEMKT QLEELEDELQ ATEDAKLRLE VNLQAMKAQF ERDLQGRDEQ SEEKKKQLVR QVREMEAELE DERKQRSMAV AARKKLEMDL KDLEAHIDSA NKNRDEAIKQ LRKLQAQMKD CMRELDDTRA SREEILAQAK ENEKKLKSME AEMIQLQEEL AAAERAKRQA QQERDELADE IANSSGKGAL ALEEKRRLEA RIAQLEEELE EEQGNTELIN DRLKKANLQI DQINTDLNLE RSHAQKNENA RQQLERQNKE LKVKLQEMEG TVKSKYKASI TALEAKIAQL EEQLDNETKE RQAACKQVRR TEKKLKDVLL QVDDERRNAE QYKDQADKAS TRLKQLKRQL EEAEEEAQRA NASRRKLQRE LEDATETADA MNREVSSLKN KLRRGDLPFV VPRRMARKGA GDGSDEEVDG KADGAEAKPA E* | |||||||||||||
| Mutated AA sequence | MAQQAADKYL YVDKNFINNP LAQADWAAKK LVWVPSDKSG FEPASLKEEV GEEAIVELVE NGKKVKVNKD DIQKMNPPKF SKVEDMAELT CLNEASVLHN LKERYYSGLI YTYSGLFCVV INPYKNLPIY SEEIVEMYKG KKRHEMPPHI YAITDTAYRS MMQDREDQSI LCTGESGAGK TENTKKVIQY LAYVASSHKS KKDQGELERQ LLQANPILEA FGNAKTVKND NSSRFGKFIR INFDVNGYIV GANIETYLLE KSRAIRQAKE ERTFHIFYYL LSGAGEHLKT DLLLEPYNKY RFLSNGHVTI PGQQDKDMFQ ETMEAMRIMG IPEEEQMGLL RVISGVLQLG NIVFKKERNT DQASMPDNTA AQKVSHLLGI NVTDFTRGIL TPRIKVGRDY VQKAQTKEQA DFAIEALAKA TYERMFRWLV LRINKALDKT KRQGASFIGI LDIAGFEIFD LNSFEQLCIN YTNEKLQQLF NHTMFILEQE EYQREGIEWN FIDFGLDLQP CIDLIEKPAG PPGILALLDE ECWFPKATDK SFVEKVMQEQ GTHPKFQKPK QLKDKADFCI IHYAGKVDYK ADEWLMKNMD PLNDNIATLL HQSSDKFVSE LWKDEMQSTQ RAYFYHRFPI LHLEPVDRII GLDQVAGMSE TALPGAFKTR KGMFRTVGQL YKEQLAKLMA TLRNTNPNFV RCIIPNHEKK AGKLDPHLVL DQLRCNGVLE GIRICRQGFP NRVVFQEFRQ RYEILTPNSI PKGFMDGKQA CVLMIKALEL DSNLYRIGQS KVFFRAGVLA HLEEERDLKI TDVIIGFQAC CRGYLARKAF AKRQQQLTAM KVLQRNCAAY LKLRNWQWWR LFTKVKPLLQ VSRQEEEMMA KEEELVKVRE KQLAAENRLT EMETLQSQLM AEKLQLQEQL QAETELCAEA EELRARLTAK KQELEEICHD LEARVEEEEE RCQHLQAEKK KMQQNIQELE EQLEEEESAR QKLQLEKVTT EAKLKKLEEE QIILEDQNCK LAKEKKLLED RIAEFTTNLT EEEEKSKSLA KLKNKHEAMI TDLEERLRRE EKQRQELEKT RRKLEGDSTD LSDQIAELQA QIAELKMQLA KKEEELQAAL ARVEEEAAQK NMALKKIREL ESQISELQED LESERASRNK AEKQKRDLGE ELEALKTELE DTLDSTAAQQ ELRSKREQEV NILKKTLEEE AKTHEAQIQE MRQKHSQAVE ELAEQLEQTK RVKANLEKAK QTLENERGEL ANEVKVLLQG KGDSEHKRKK VEAQLQELQV KFNEGERVRT ELADKVTKLQ VELDNVTGLL SQSDSKSSKL TKDFSALESQ LQDTQELLQE ENRQKLSLST KLKQVEDEKN SFREQLEEEE EAKHNLEKQI ATLHAQVADM KKKMEDSVGC LETAEEVKRK LQKDLEGLSQ RHEEKVAAYD KLEKTKTRLQ QELDDLLVDL DHQRQSACNL EKKQKKFDQL LAEEKTISAK YAEERDRAEA EAREKETKAL SLARALEEAM EQKAELERLN KQFRTEMEDL MSSKDDVGKS VHELEKSKRA LEQQVEEMKT QLEELEDELQ ATEDAKLRLE VNLQAMKAQF ERDLQGRDEQ SEEKKKQLVR QVREMEAELE DERKQRSMAV AARKKLEMDL KDLEAHIDSA NKNRDEAIKQ LRKLQAQMKD CMRELDDTRA SREEILAQAK ENEKKLKSME AEMIQLQEEL AAAERAKRQA QQERDELADE IANSSGKGAL ALEEKRRLEA RIAQLEEELE EEQGNTELIN DRLKKANLQI DQINTDLNLE RSHAQKNENA RQQLERQNKE LKVKLQEMEG TVKSKYKASI TALEAKIAQL EEQLDNETKE RQAACKQVRR TEKKLKDVLL QVDDERRNAE QYKDQADKAS TRLKQLKRQL EEAEEEAQRA NASRRKLQRE LEDATETADA MNREVSSLKN KLRRGDLPFV VPRRMARKGA GDGSDEEVDG KADGAEAKPA E* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 5946 / 5946 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1982 / 1982 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 6160 / 6160 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 215 / 215 | |||||||||||||
| Last intron/exon boundary | 6042 | |||||||||||||
| Theoretical NMD boundary in CDS | 5777 | |||||||||||||
| Length of CDS | 5946 | |||||||||||||
| Coding sequence (CDS) position | 1566 | |||||||||||||
| cDNA position | 1780 | |||||||||||||
| gDNA position | 75800 | |||||||||||||
| Chromosomal position | 36312211 | |||||||||||||
| 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