| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PALB2 | Deleterious | 74|26 | 3utr | No | Single base exchange | Normal | |||||||
| PALB2 | Benign | 7|193 | without_ | No | Single base exchange | Normal | |||||||
| PALB2 | Benign | 7|193 | without_ | No | Single base exchange | Normal | |||||||
| PALB2 | Benign | 7|193 | without_ | No | Single base exchange | Normal | |||||||
| PALB2 | Benign | 7|193 | without_ | No | Single base exchange | Normal | |||||||
| PALB2 | Benign | 7|193 | without_ | No | Single base exchange | Normal | |||||||
| PALB2 | Benign | 33|67 | 3utr | No | Single base exchange | Normal | |||||||
ENST00000261584(MANE Select) | PALB2 | Benign | 56|144 | without_ | No | Single base exchange | Normal | ||||||
| PALB2 | Benign | 69|131 | without_ | No | Single base exchange | Normal | |||||||
| PALB2 | Benign | 78|122 | without_ | No | Single base exchange | Normal |
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr16:23603654G>A (GRCh38) | |||||||||||||
| Gene symbol | PALB2 | |||||||||||||
| Gene constraints | LOEUF: 1.54, LOF (oe): 0.62, misssense (oe): 0.90, synonymous (oe): 0.82 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000566069.6 | |||||||||||||
| Genbank transcript ID | NM_001407302 (by similarity), NM_001407301 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | 3'UTR, CDS | |||||||||||||
| DNA changes | c.3217C>T g.37668C>T | |||||||||||||
| 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 | 16 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | polyA signal ok | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 16 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | ATCAGGTTCCTGGAAGGTGACGTGAAAGATCACTGTGCAGC | |||||||||||||
| Altered gDNA sequence snippet | ATCAGGTTCCTGGAAGGTGATGTGAAAGATCACTGTGCAGC | |||||||||||||
| Original cDNA sequence snippet | AAATGGTTCCTGGAAGGTGACGTGAAAGATCACTGTGCAGC | |||||||||||||
| Altered cDNA sequence snippet | AAATGGTTCCTGGAAGGTGATGTGAAAGATCACTGTGCAGC | |||||||||||||
| Wildtype AA sequence | MDEPPGKPLS CEEKEKLKEK LAFLKREYSK TLARLQRAQR AEKIKHSIKK TVEEQDCLSQ QDLSPQLKHS EPKNKICVYD KLHIKTHLDE ETGEKTSITL DVGPESFNPG DGPGGLPIQR TDDTQEHFPH RVSDPSGEQK QKLPSRRKKQ QKRTFISQER DCVFGTDSLR LSGKRLKEQE EISSKNPARS PVTEIRTHLL SLKSELPDSP EPVTEINEDS VLIPPTAQPE KGVDTFLRRP NFTRATTVPL QTLSDSGSSQ HLEHIPPKGS SELTTHDLKN IRFTSPVSLE AQGKKMTVST DNLLVNKAIS KSGQLPTSSN LEANISCSLN ELTYNNLPAN ENQNLKEQNQ TEKSLKSPSD TLDGRNENLQ ESEILSQPKS LSLEATSPLS AEKHSCTVPE GLLFPAEYYV RTTRSMSNCQ RKVAVEAVIQ SHLDVKKKGF KNKNKDASKN LNLSNEETDQ SEIRMSGTCT GQPSSRTSQK LLSLTKVSSP AGPTEDNDLS RKAVAQAPGR RYTGKRKSAC TPASDHCEPL LPTSSLSIVN RSKEEVTSHK YQHEKLFIQV KGKKSRHQKE DSLSWSNSAY LSLDDDAFTA PFHRDGMLSL KQLLSFLSIT DFQLPDEDFG PLKLEKVKSC SEKPVEPFES KMFGERHLKE GSCIFPEELS PKRMDTEMED LEEDLIVLPG KSHPKRPNSQ SQHTKTGLSS SILLYTPLNT VAPDDNDRPT TDMCSPAFPI LGTTPAFGPQ GSYEKASTEV AGRTCCTPQL AHLKDSVCLA SDTKQFDSSG SPAKPHTTLQ VSGRQGQPTC DCDSVPPGTP PPIESFTFKE NQLCRNTCQE LHKHSVEQTE TAELPASDSI NPGNLQLVSE LKNPSGSCSV DVSAMFWERA GCKEPCIITA CEDVVSLWKA LDAWQWEKLY TWHFAEVPVL QIVPVPDVYN LVCVALGNLE IREIRALFCS SDDESEKQVL LKSGNIKAVL GLTKRRLVSS SGTLSDQQVE VMTFAEDGGG KENQFLMPPE ETILTFAEVQ GMQEALLGTT IMNNIVIWNL KTGQLLKKMH IDDSYQASVC HKAYSEMVPG R* | |||||||||||||
| Mutated AA sequence | MDEPPGKPLS CEEKEKLKEK LAFLKREYSK TLARLQRAQR AEKIKHSIKK TVEEQDCLSQ QDLSPQLKHS EPKNKICVYD KLHIKTHLDE ETGEKTSITL DVGPESFNPG DGPGGLPIQR TDDTQEHFPH RVSDPSGEQK QKLPSRRKKQ QKRTFISQER DCVFGTDSLR LSGKRLKEQE EISSKNPARS PVTEIRTHLL SLKSELPDSP EPVTEINEDS VLIPPTAQPE KGVDTFLRRP NFTRATTVPL QTLSDSGSSQ HLEHIPPKGS SELTTHDLKN IRFTSPVSLE AQGKKMTVST DNLLVNKAIS KSGQLPTSSN LEANISCSLN ELTYNNLPAN ENQNLKEQNQ TEKSLKSPSD TLDGRNENLQ ESEILSQPKS LSLEATSPLS AEKHSCTVPE GLLFPAEYYV RTTRSMSNCQ RKVAVEAVIQ SHLDVKKKGF KNKNKDASKN LNLSNEETDQ SEIRMSGTCT GQPSSRTSQK LLSLTKVSSP AGPTEDNDLS RKAVAQAPGR RYTGKRKSAC TPASDHCEPL LPTSSLSIVN RSKEEVTSHK YQHEKLFIQV KGKKSRHQKE DSLSWSNSAY LSLDDDAFTA PFHRDGMLSL KQLLSFLSIT DFQLPDEDFG PLKLEKVKSC SEKPVEPFES KMFGERHLKE GSCIFPEELS PKRMDTEMED LEEDLIVLPG KSHPKRPNSQ SQHTKTGLSS SILLYTPLNT VAPDDNDRPT TDMCSPAFPI LGTTPAFGPQ GSYEKASTEV AGRTCCTPQL AHLKDSVCLA SDTKQFDSSG SPAKPHTTLQ VSGRQGQPTC DCDSVPPGTP PPIESFTFKE NQLCRNTCQE LHKHSVEQTE TAELPASDSI NPGNLQLVSE LKNPSGSCSV DVSAMFWERA GCKEPCIITA CEDVVSLWKA LDAWQWEKLY TWHFAEVPVL QIVPVPDVYN LVCVALGNLE IREIRALFCS SDDESEKQVL LKSGNIKAVL GLTKRRLVSS SGTLSDQQVE VMTFAEDGGG KENQFLMPPE ETILTFAEVQ GMQEALLGTT IMNNIVIWNL KTGQLLKKMH IDDSYQASVC HKAYSEMVPG R* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3216 / 3216 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1072 / 1072 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3355 / 3355 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 140 / 140 | |||||||||||||
| Last intron/exon boundary | 3340 | |||||||||||||
| Theoretical NMD boundary in CDS | 3150 | |||||||||||||
| Length of CDS | 3216 | |||||||||||||
| Coding sequence (CDS) position | 3217 | |||||||||||||
| cDNA position | 3356 | |||||||||||||
| gDNA position | 37668 | |||||||||||||
| Chromosomal position | 23603654 | |||||||||||||
| Speed | 0.10 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr16:23603654G>A (GRCh38) | |||||||||||||
| Gene symbol | PALB2 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000697374.1 | |||||||||||||
| Genbank transcript ID | NM_001407304 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2481C>T g.37668C>T | |||||||||||||
| 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 | 16 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 16 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | ATCAGGTTCCTGGAAGGTGACGTGAAAGATCACTGTGCAGC | |||||||||||||
| Altered gDNA sequence snippet | ATCAGGTTCCTGGAAGGTGATGTGAAAGATCACTGTGCAGC | |||||||||||||
| Original cDNA sequence snippet | GGCAGGTTCCTGGAAGGTGACGTGAAAGATCACTGTGCAGC | |||||||||||||
| Altered cDNA sequence snippet | GGCAGGTTCCTGGAAGGTGATGTGAAAGATCACTGTGCAGC | |||||||||||||
| Wildtype AA sequence | MTVSTDNLLV NKAISKSGQL PTSSNLEANI SCSLNELTYN NLPANENQNL KEQNQTEKSL KSPSDTLDGR NENLQESEIL SQPKSLSLEA TSPLSAEKHS CTVPEGLLFP AEYYVRTTRS MSNCQRKVAV EAVIQSHLDV KKKGFKNKNK DASKNLNLSN EETDQSEIRM SGTCTGQPSS RTSQKLLSLT KVSSPAGPTE DNDLSRKAVA QAPGRRYTGK RKSACTPASD HCEPLLPTSS LSIVNRSKEE VTSHKYQHEK LFIQVKGKKS RHQKEDSLSW SNSAYLSLDD DAFTAPFHRD GMLSLKQLLS FLSITDFQLP DEDFGPLKLE KVKSCSEKPV EPFESKMFGE RHLKEGSCIF PEELSPKRMD TEMEDLEEDL IVLPGKSHPK RPNSQSQHTK TGLSSSILLY TPLNTVAPDD NDRPTTDMCS PAFPILGTTP AFGPQGSYEK ASTEVAGRTC CTPQLAHLKD SVCLASDTKQ FDSSGSPAKP HTTLQVSGRQ GQPTCDCDSV PPGTPPPIES FTFKENQLCR NTCQELHKHS VEQTETAELP ASDSINPGNL QLVSELKNPS GSCSVDVSAM FWERAGCKEP CIITACEDVV SLWKALDAWQ WEKLYTWHFA EVPVLQIVPV PDVYNLVCVA LGNLEIREIR ALFCSSDDES EKQVLLKSGN IKAVLGLTKR RLVSSSGTLS DQQVEVMTFA EDGGGKENQF LMPPEETILT FAEVQGMQEA LLGTTIMNNI VIWNLKTGQL LKKMHIDDSY QASVCHKAYS EMGLLFIVLS HPCAKESESL RSPVFQLIVI NPKTTLSVGV MLYCLPPGQA GRFLEGDVKD HCAAAILTSG TIAIWDLLLG QCTALLPPVS DQHWSFVKWS GTDSHLLAGQ KDGNIFVYHY S* | |||||||||||||
| Mutated AA sequence | MTVSTDNLLV NKAISKSGQL PTSSNLEANI SCSLNELTYN NLPANENQNL KEQNQTEKSL KSPSDTLDGR NENLQESEIL SQPKSLSLEA TSPLSAEKHS CTVPEGLLFP AEYYVRTTRS MSNCQRKVAV EAVIQSHLDV KKKGFKNKNK DASKNLNLSN EETDQSEIRM SGTCTGQPSS RTSQKLLSLT KVSSPAGPTE DNDLSRKAVA QAPGRRYTGK RKSACTPASD HCEPLLPTSS LSIVNRSKEE VTSHKYQHEK LFIQVKGKKS RHQKEDSLSW SNSAYLSLDD DAFTAPFHRD GMLSLKQLLS FLSITDFQLP DEDFGPLKLE KVKSCSEKPV EPFESKMFGE RHLKEGSCIF PEELSPKRMD TEMEDLEEDL IVLPGKSHPK RPNSQSQHTK TGLSSSILLY TPLNTVAPDD NDRPTTDMCS PAFPILGTTP AFGPQGSYEK ASTEVAGRTC CTPQLAHLKD SVCLASDTKQ FDSSGSPAKP HTTLQVSGRQ GQPTCDCDSV PPGTPPPIES FTFKENQLCR NTCQELHKHS VEQTETAELP ASDSINPGNL QLVSELKNPS GSCSVDVSAM FWERAGCKEP CIITACEDVV SLWKALDAWQ WEKLYTWHFA EVPVLQIVPV PDVYNLVCVA LGNLEIREIR ALFCSSDDES EKQVLLKSGN IKAVLGLTKR RLVSSSGTLS DQQVEVMTFA EDGGGKENQF LMPPEETILT FAEVQGMQEA LLGTTIMNNI VIWNLKTGQL LKKMHIDDSY QASVCHKAYS EMGLLFIVLS HPCAKESESL RSPVFQLIVI NPKTTLSVGV MLYCLPPGQA GRFLEGDVKD HCAAAILTSG TIAIWDLLLG QCTALLPPVS DQHWSFVKWS GTDSHLLAGQ KDGNIFVYHY S* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2676 / 2676 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 892 / 892 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 4084 / 4084 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1409 / 1409 | |||||||||||||
| Last intron/exon boundary | 3873 | |||||||||||||
| Theoretical NMD boundary in CDS | 2414 | |||||||||||||
| Length of CDS | 2676 | |||||||||||||
| Coding sequence (CDS) position | 2481 | |||||||||||||
| cDNA position | 3889 | |||||||||||||
| gDNA position | 37668 | |||||||||||||
| Chromosomal position | 23603654 | |||||||||||||
| 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 | Chr16:23603654G>A (GRCh38) | |||||||||||||
| Gene symbol | PALB2 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000713774.1 | |||||||||||||
| Genbank transcript ID | NM_001407299 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3129C>T g.37668C>T | |||||||||||||
| 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 | 16 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 16 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | ATCAGGTTCCTGGAAGGTGACGTGAAAGATCACTGTGCAGC | |||||||||||||
| Altered gDNA sequence snippet | ATCAGGTTCCTGGAAGGTGATGTGAAAGATCACTGTGCAGC | |||||||||||||
| Original cDNA sequence snippet | ATTTGGTTCCTGGAAGGTGACGTGAAAGATCACTGTGCAGC | |||||||||||||
| Altered cDNA sequence snippet | ATTTGGTTCCTGGAAGGTGATGTGAAAGATCACTGTGCAGC | |||||||||||||
| Wildtype AA sequence | MDEPPGKPLS CEEKEKLKEK LAFLKREYSK TLARLQRAQR AEKIKHSIKK TVEEQDCLSQ QDLSPQLKHS EPKNKICVYD KLHIKTHLDE ETGEKTSITL DVGPESFNPG DGPGGLPIQR TDDTQEHFPH RVSDPSGEQK QKLPSRRKKQ QKRTFISQER DCVFGTDSLR LSGKRLKEQE EISSKNPARS PVTEIRTHLL SLKSELPDSP EPVTEINEDS VLIPPTAQPE KGVDTFLRRP NFTRATTVPL QTLSDSGSSQ HLEHIPPKGS SELTTHDLKN IRFTSPVSLE AQGKKMTVST DNLLVNKAIS KSGQLPTSSN LEANISCSLN ELTYNNLPAN ENQNLKEQNQ TEKSLKSPSD TLDGRNENLQ ESEILSQPKS LSLEATSPLS AEKHSCTVPE GLLFPAEYYV RTTRSMSNCQ RKVAVEAVIQ SHLDVKKKGF KNKNKDASKN LNLSNEETDQ SEIRMSGTCT GQPSSRTSQK LLSLTKVSSP AGPTEDNDLS RKAVAQAPGR RYTGKRKSAC TPASDHCEPL LPTSSLSIVN RSKEEVTSHK YQHEKLFIQV KGKKSRHQKE DSLSWSNSAY LSLDDDAFTA PFHRDGMLSL KQLLSFLSIT DFQLPDEDFG PLKLEKVKSC SEKPVEPFES KMFGERHLKE GSCIFPEELS PKRMDTEMED LEEDLIVLPG KSHPKRPNSQ SQHTKTGLSS SILLYTPLNT VAPDDNDRPT TDMCSPAFPI LGTTPAFGPQ GSYEKASTEV AGRTCCTPQL AHLKDSVCLA SDTKQFDSSG SPAKPHTTLQ VSGRQGQPTC DCDSVPPGTP PPIESFTFKE NQLCRNTCQE LHKHSVEQTE TAELPASDSI NPGNLQLVSE LKNPSGSCSV DVSAMFWERA GCKEPCIITA CEDVVSLWKA LDAWQWEKLY TWHFAEVPVL QIVPVPDVYN LVCVALGNLE IREIRALFCS SDDESEKQVL LKSGNIKAVL GLTKRRLVSS SGTLSDQQVE VMTFAEDGGG KENQFLMPPE ETILTFAEVQ GMQEALLGTT IMNNIVIWFL EGDVKDHCAA AILTSGTIAI WDLLLGQCTA LLPPVSDQHW SFVKWSGTDS HLLAGQKDGN IFVYHYS* | |||||||||||||
| Mutated AA sequence | MDEPPGKPLS CEEKEKLKEK LAFLKREYSK TLARLQRAQR AEKIKHSIKK TVEEQDCLSQ QDLSPQLKHS EPKNKICVYD KLHIKTHLDE ETGEKTSITL DVGPESFNPG DGPGGLPIQR TDDTQEHFPH RVSDPSGEQK QKLPSRRKKQ QKRTFISQER DCVFGTDSLR LSGKRLKEQE EISSKNPARS PVTEIRTHLL SLKSELPDSP EPVTEINEDS VLIPPTAQPE KGVDTFLRRP NFTRATTVPL QTLSDSGSSQ HLEHIPPKGS SELTTHDLKN IRFTSPVSLE AQGKKMTVST DNLLVNKAIS KSGQLPTSSN LEANISCSLN ELTYNNLPAN ENQNLKEQNQ TEKSLKSPSD TLDGRNENLQ ESEILSQPKS LSLEATSPLS AEKHSCTVPE GLLFPAEYYV RTTRSMSNCQ RKVAVEAVIQ SHLDVKKKGF KNKNKDASKN LNLSNEETDQ SEIRMSGTCT GQPSSRTSQK LLSLTKVSSP AGPTEDNDLS RKAVAQAPGR RYTGKRKSAC TPASDHCEPL LPTSSLSIVN RSKEEVTSHK YQHEKLFIQV KGKKSRHQKE DSLSWSNSAY LSLDDDAFTA PFHRDGMLSL KQLLSFLSIT DFQLPDEDFG PLKLEKVKSC SEKPVEPFES KMFGERHLKE GSCIFPEELS PKRMDTEMED LEEDLIVLPG KSHPKRPNSQ SQHTKTGLSS SILLYTPLNT VAPDDNDRPT TDMCSPAFPI LGTTPAFGPQ GSYEKASTEV AGRTCCTPQL AHLKDSVCLA SDTKQFDSSG SPAKPHTTLQ VSGRQGQPTC DCDSVPPGTP PPIESFTFKE NQLCRNTCQE LHKHSVEQTE TAELPASDSI NPGNLQLVSE LKNPSGSCSV DVSAMFWERA GCKEPCIITA CEDVVSLWKA LDAWQWEKLY TWHFAEVPVL QIVPVPDVYN LVCVALGNLE IREIRALFCS SDDESEKQVL LKSGNIKAVL GLTKRRLVSS SGTLSDQQVE VMTFAEDGGG KENQFLMPPE ETILTFAEVQ GMQEALLGTT IMNNIVIWFL EGDVKDHCAA AILTSGTIAI WDLLLGQCTA LLPPVSDQHW SFVKWSGTDS HLLAGQKDGN IFVYHYS* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3324 / 3324 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1108 / 1108 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3478 / 3478 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 155 / 155 | |||||||||||||
| Last intron/exon boundary | 3267 | |||||||||||||
| Theoretical NMD boundary in CDS | 3062 | |||||||||||||
| Length of CDS | 3324 | |||||||||||||
| Coding sequence (CDS) position | 3129 | |||||||||||||
| cDNA position | 3283 | |||||||||||||
| gDNA position | 37668 | |||||||||||||
| Chromosomal position | 23603654 | |||||||||||||
| 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 | Chr16:23603654G>A (GRCh38) | |||||||||||||
| Gene symbol | PALB2 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000697377.2 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3210C>T g.37668C>T | |||||||||||||
| 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 | 16 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 16 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | ATCAGGTTCCTGGAAGGTGACGTGAAAGATCACTGTGCAGC | |||||||||||||
| Altered gDNA sequence snippet | ATCAGGTTCCTGGAAGGTGATGTGAAAGATCACTGTGCAGC | |||||||||||||
| Original cDNA sequence snippet | GGCAGGTTCCTGGAAGGTGACGTGAAAGATCACTGTGCAGC | |||||||||||||
| Altered cDNA sequence snippet | GGCAGGTTCCTGGAAGGTGATGTGAAAGATCACTGTGCAGC | |||||||||||||
| Wildtype AA sequence | MFPACADVIL ILAYLLVELK EKLAFLKREY SKTLARLQRA QRAEKIKHSI KKTVEEQDCL SQQDLSPQLK HSEPKNKICV YDKLHIKTHL DEETGEKTSI TLDVGPESFN PGDGPGGLPI QRTDDTQEHF PHRVSDPSGE QKQKLPSRRK KQQKRTFISQ ERDCVFGTDS LRLSGKRLKE QEEISSKNPA RSPVTEIRTH LLSLKSELPD SPEPVTEINE DSVLIPPTAQ PEKGVDTFLR RPNFTRATTV PLQTLSDSGS SQHLEHIPPK GSSELTTHDL KNIRFTSPVS LEAQGKKMTV STDNLLVNKA ISKSGQLPTS SNLEANISCS LNELTYNNLP ANENQNLKEQ NQTEKSLKSP SDTLDGRNEN LQESEILSQP KSLSLEATSP LSAEKHSCTV PEGLLFPAEY YVRTTRSMSN CQRKVAVEAV IQSHLDVKKK GFKNKNKDAS KNLNLSNEET DQSEIRMSGT CTGQPSSRTS QKLLSLTKVS SPAGPTEDND LSRKAVAQAP GRRYTGKRKS ACTPASDHCE PLLPTSSLSI VNRSKEEVTS HKYQHEKLFI QVKGKKSRHQ KEDSLSWSNS AYLSLDDDAF TAPFHRDGML SLKQLLSFLS ITDFQLPDED FGPLKLEKVK SCSEKPVEPF ESKMFGERHL KEGSCIFPEE LSPKRMDTEM EDLEEDLIVL PGKSHPKRPN SQSQHTKTGL SSSILLYTPL NTVAPDDNDR PTTDMCSPAF PILGTTPAFG PQGSYEKAST EVAGRTCCTP QLAHLKDSVC LASDTKQFDS SGSPAKPHTT LQVSGRQGQP TCDCDSVPPG TPPPIESFTF KENQLCRNTC QELHKHSVEQ TETAELPASD SINPGNLQLV SELKVPVLQI VPVPDVYNLV CVALGNLEIR EIRALFCSSD DESEKQVLLK SGNIKAVLGL TKRRLVSSSG TLSDQQVEVM TFAEDGGGKE NQFLMPPEET ILTFAEVQGM QEALLGTTIM NNIVIWNLKT GQLLKKMHID DSYQASVCHK AYSEMGLLFI VLSHPCAKES ESLRSPVFQL IVINPKTTLS VGVMLYCLPP GQAGRFLEGD VKDHCAAAIL TSGTIAIWDL LLGQCTALLP PVSDQHWSFV KWSGTDSHLL AGQKDGNIFV YHYS* | |||||||||||||
| Mutated AA sequence | MFPACADVIL ILAYLLVELK EKLAFLKREY SKTLARLQRA QRAEKIKHSI KKTVEEQDCL SQQDLSPQLK HSEPKNKICV YDKLHIKTHL DEETGEKTSI TLDVGPESFN PGDGPGGLPI QRTDDTQEHF PHRVSDPSGE QKQKLPSRRK KQQKRTFISQ ERDCVFGTDS LRLSGKRLKE QEEISSKNPA RSPVTEIRTH LLSLKSELPD SPEPVTEINE DSVLIPPTAQ PEKGVDTFLR RPNFTRATTV PLQTLSDSGS SQHLEHIPPK GSSELTTHDL KNIRFTSPVS LEAQGKKMTV STDNLLVNKA ISKSGQLPTS SNLEANISCS LNELTYNNLP ANENQNLKEQ NQTEKSLKSP SDTLDGRNEN LQESEILSQP KSLSLEATSP LSAEKHSCTV PEGLLFPAEY YVRTTRSMSN CQRKVAVEAV IQSHLDVKKK GFKNKNKDAS KNLNLSNEET DQSEIRMSGT CTGQPSSRTS QKLLSLTKVS SPAGPTEDND LSRKAVAQAP GRRYTGKRKS ACTPASDHCE PLLPTSSLSI VNRSKEEVTS HKYQHEKLFI QVKGKKSRHQ KEDSLSWSNS AYLSLDDDAF TAPFHRDGML SLKQLLSFLS ITDFQLPDED FGPLKLEKVK SCSEKPVEPF ESKMFGERHL KEGSCIFPEE LSPKRMDTEM EDLEEDLIVL PGKSHPKRPN SQSQHTKTGL SSSILLYTPL NTVAPDDNDR PTTDMCSPAF PILGTTPAFG PQGSYEKAST EVAGRTCCTP QLAHLKDSVC LASDTKQFDS SGSPAKPHTT LQVSGRQGQP TCDCDSVPPG TPPPIESFTF KENQLCRNTC QELHKHSVEQ TETAELPASD SINPGNLQLV SELKVPVLQI VPVPDVYNLV CVALGNLEIR EIRALFCSSD DESEKQVLLK SGNIKAVLGL TKRRLVSSSG TLSDQQVEVM TFAEDGGGKE NQFLMPPEET ILTFAEVQGM QEALLGTTIM NNIVIWNLKT GQLLKKMHID DSYQASVCHK AYSEMGLLFI VLSHPCAKES ESLRSPVFQL IVINPKTTLS VGVMLYCLPP GQAGRFLEGD VKDHCAAAIL TSGTIAIWDL LLGQCTALLP PVSDQHWSFV KWSGTDSHLL AGQKDGNIFV YHYS* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3405 / 3405 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1135 / 1135 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3798 / 3798 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 394 / 394 | |||||||||||||
| Last intron/exon boundary | 3587 | |||||||||||||
| Theoretical NMD boundary in CDS | 3143 | |||||||||||||
| Length of CDS | 3405 | |||||||||||||
| Coding sequence (CDS) position | 3210 | |||||||||||||
| cDNA position | 3603 | |||||||||||||
| gDNA position | 37668 | |||||||||||||
| Chromosomal position | 23603654 | |||||||||||||
| 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 | Chr16:23603654G>A (GRCh38) | |||||||||||||
| Gene symbol | PALB2 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000697383.1 | |||||||||||||
| Genbank transcript ID | NM_001407314 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.900C>T g.37668C>T | |||||||||||||
| 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 | 16 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 16 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | ATCAGGTTCCTGGAAGGTGACGTGAAAGATCACTGTGCAGC | |||||||||||||
| Altered gDNA sequence snippet | ATCAGGTTCCTGGAAGGTGATGTGAAAGATCACTGTGCAGC | |||||||||||||
| Original cDNA sequence snippet | GGCAGGTTCCTGGAAGGTGACGTGAAAGATCACTGTGCAGC | |||||||||||||
| Altered cDNA sequence snippet | GGCAGGTTCCTGGAAGGTGATGTGAAAGATCACTGTGCAGC | |||||||||||||
| Wildtype AA sequence | MDEPPGKPLS CEEKEKTETA ELPASDSINP GNLQLVSELK NPSGSCSVDV SAMFWERAGC KEPCIITACE DVVSLWKALD AWQWEKLYTW HFAEVPVLQI VPVPDVYNLV CVALGNLEIR EIRALFCSSD DESEKQVLLK SGNIKAVLGL TKRRLVSSSG TLSDQQVEVM TFAEDGGGKE NQFLMPPEET ILTFAEVQGM QEALLGTTIM NNIVIWNLKT GQLLKKMHID DSYQASVCHK AYSEMGLLFI VLSHPCAKES ESLRSPVFQL IVINPKTTLS VGVMLYCLPP GQAGRFLEGD VKDHCAAAIL TSGTIAIWDL LLGQCTALLP PVSDQHWSFV KWSGTDSHLL AGQKDGNIFV YHYS* | |||||||||||||
| Mutated AA sequence | MDEPPGKPLS CEEKEKTETA ELPASDSINP GNLQLVSELK NPSGSCSVDV SAMFWERAGC KEPCIITACE DVVSLWKALD AWQWEKLYTW HFAEVPVLQI VPVPDVYNLV CVALGNLEIR EIRALFCSSD DESEKQVLLK SGNIKAVLGL TKRRLVSSSG TLSDQQVEVM TFAEDGGGKE NQFLMPPEET ILTFAEVQGM QEALLGTTIM NNIVIWNLKT GQLLKKMHID DSYQASVCHK AYSEMGLLFI VLSHPCAKES ESLRSPVFQL IVINPKTTLS VGVMLYCLPP GQAGRFLEGD VKDHCAAAIL TSGTIAIWDL LLGQCTALLP PVSDQHWSFV KWSGTDSHLL AGQKDGNIFV YHYS* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 1095 / 1095 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 365 / 365 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 1259 / 1259 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 165 / 165 | |||||||||||||
| Last intron/exon boundary | 1048 | |||||||||||||
| Theoretical NMD boundary in CDS | 833 | |||||||||||||
| Length of CDS | 1095 | |||||||||||||
| Coding sequence (CDS) position | 900 | |||||||||||||
| cDNA position | 1064 | |||||||||||||
| gDNA position | 37668 | |||||||||||||
| Chromosomal position | 23603654 | |||||||||||||
| 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 | Chr16:23603654G>A (GRCh38) | |||||||||||||
| Gene symbol | PALB2 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000697379.2 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3372C>T g.37668C>T | |||||||||||||
| 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 | 16 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 16 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | ATCAGGTTCCTGGAAGGTGACGTGAAAGATCACTGTGCAGC | |||||||||||||
| Altered gDNA sequence snippet | ATCAGGTTCCTGGAAGGTGATGTGAAAGATCACTGTGCAGC | |||||||||||||
| Original cDNA sequence snippet | GGCAGGTTCCTGGAAGGTGACGTGAAAGATCACTGTGCAGC | |||||||||||||
| Altered cDNA sequence snippet | GGCAGGTTCCTGGAAGGTGATGTGAAAGATCACTGTGCAGC | |||||||||||||
| Wildtype AA sequence | MFPACADVIL ILAYLLVELK EKLAFLKREY SKTLARLQRA QRAEKIKHSI KKTVEEQDCL SQQDLSPQLK HSEPKNKICV YDKLHIKTHL DEETGEKTSI TLDVGPESFN PGDGPGGLPI QRTDDTQEHF PHRVSDPSGE QKQKLPSRRK KQQKRTFISQ ERDCVFGTDS LRLSGKRLKE QEEISSKNPA RSPVTEIRTH LLSLKSELPD SPEPVTEINE DSVLIPPTAQ PEKGVDTFLR RPNFTRATTV PLQTLSDSGS SQHLEHIPPK GSSELTTHDL KNIRFTSPVS LEAQGKKMTV STDNLLVNKA ISKSGQLPTS SNLEANISCS LNELTYNNLP ANENQNLKEQ NQTEKSLKSP SDTLDGRNEN LQESEILSQP KSLSLEATSP LSAEKHSCTV PEGLLFPAEY YVRTTRSMSN CQRKVAVEAV IQSHLDVKKK GFKNKNKDAS KNLNLSNEET DQSEIRMSGT CTGQPSSRTS QKLLSLTKVS SPAGPTEDND LSRKAVAQAP GRRYTGKRKS ACTPASDHCE PLLPTSSLSI VNRSKEEVTS HKYQHEKLFI QVKGKKSRHQ KEDSLSWSNS AYLSLDDDAF TAPFHRDGML SLKQLLSFLS ITDFQLPDED FGPLKLEKVK SCSEKPVEPF ESKMFGERHL KEGSCIFPEE LSPKRMDTEM EDLEEDLIVL PGKSHPKRPN SQSQHTKTGL SSSILLYTPL NTVAPDDNDR PTTDMCSPAF PILGTTPAFG PQGSYEKAST EVAGRTCCTP QLAHLKDSVC LASDTKQFDS SGSPAKPHTT LQVSGRQGQP TCDCDSVPPG TPPPIESFTF KENQLCRNTC QELHKHSVEQ TETAELPASD SINPGNLQLV SELKNPSGSC SVDVSAMFWE RAGCKEPCII TACEDVVSLW KALDAWQWEK LYTWHFAEVP VLQIVPVPDV YNLVCVALGN LEIREIRALF CSSDDESEKQ VLLKSGNIKA VLGLTKRRLV SSSGTLSDQQ VEVMTFAEDG GGKENQFLMP PEETILTFAE VQGMQEALLG TTIMNNIVIW NLKTGQLLKK MHIDDSYQAS VCHKAYSEMG LLFIVLSHPC AKESESLRSP VFQLIVINPK TTLSVGVMLY CLPPGQAGRF LEGDVKDHCA AAILTSGTIA IWDLLLGQCT ALLPPVSDQH WSFVKWSGTD SHLLAGQKDG NIFVYHYS* | |||||||||||||
| Mutated AA sequence | MFPACADVIL ILAYLLVELK EKLAFLKREY SKTLARLQRA QRAEKIKHSI KKTVEEQDCL SQQDLSPQLK HSEPKNKICV YDKLHIKTHL DEETGEKTSI TLDVGPESFN PGDGPGGLPI QRTDDTQEHF PHRVSDPSGE QKQKLPSRRK KQQKRTFISQ ERDCVFGTDS LRLSGKRLKE QEEISSKNPA RSPVTEIRTH LLSLKSELPD SPEPVTEINE DSVLIPPTAQ PEKGVDTFLR RPNFTRATTV PLQTLSDSGS SQHLEHIPPK GSSELTTHDL KNIRFTSPVS LEAQGKKMTV STDNLLVNKA ISKSGQLPTS SNLEANISCS LNELTYNNLP ANENQNLKEQ NQTEKSLKSP SDTLDGRNEN LQESEILSQP KSLSLEATSP LSAEKHSCTV PEGLLFPAEY YVRTTRSMSN CQRKVAVEAV IQSHLDVKKK GFKNKNKDAS KNLNLSNEET DQSEIRMSGT CTGQPSSRTS QKLLSLTKVS SPAGPTEDND LSRKAVAQAP GRRYTGKRKS ACTPASDHCE PLLPTSSLSI VNRSKEEVTS HKYQHEKLFI QVKGKKSRHQ KEDSLSWSNS AYLSLDDDAF TAPFHRDGML SLKQLLSFLS ITDFQLPDED FGPLKLEKVK SCSEKPVEPF ESKMFGERHL KEGSCIFPEE LSPKRMDTEM EDLEEDLIVL PGKSHPKRPN SQSQHTKTGL SSSILLYTPL NTVAPDDNDR PTTDMCSPAF PILGTTPAFG PQGSYEKAST EVAGRTCCTP QLAHLKDSVC LASDTKQFDS SGSPAKPHTT LQVSGRQGQP TCDCDSVPPG TPPPIESFTF KENQLCRNTC QELHKHSVEQ TETAELPASD SINPGNLQLV SELKNPSGSC SVDVSAMFWE RAGCKEPCII TACEDVVSLW KALDAWQWEK LYTWHFAEVP VLQIVPVPDV YNLVCVALGN LEIREIRALF CSSDDESEKQ VLLKSGNIKA VLGLTKRRLV SSSGTLSDQQ VEVMTFAEDG GGKENQFLMP PEETILTFAE VQGMQEALLG TTIMNNIVIW NLKTGQLLKK MHIDDSYQAS VCHKAYSEMG LLFIVLSHPC AKESESLRSP VFQLIVINPK TTLSVGVMLY CLPPGQAGRF LEGDVKDHCA AAILTSGTIA IWDLLLGQCT ALLPPVSDQH WSFVKWSGTD SHLLAGQKDG NIFVYHYS* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3567 / 3567 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1189 / 1189 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3866 / 3866 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 300 / 300 | |||||||||||||
| Last intron/exon boundary | 3655 | |||||||||||||
| Theoretical NMD boundary in CDS | 3305 | |||||||||||||
| Length of CDS | 3567 | |||||||||||||
| Coding sequence (CDS) position | 3372 | |||||||||||||
| cDNA position | 3671 | |||||||||||||
| gDNA position | 37668 | |||||||||||||
| Chromosomal position | 23603654 | |||||||||||||
| 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 | Chr16:23603654G>A (GRCh38) | |||||||||||||
| Gene symbol | PALB2 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000697376.1 | |||||||||||||
| Genbank transcript ID | NM_001407313 (by similarity), NM_001407311 (by similarity), NM_001407310 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | 3'UTR, CDS | |||||||||||||
| DNA changes | c.2332C>T g.37668C>T | |||||||||||||
| 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 | 16 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | polyA signal ok | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 16 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | ATCAGGTTCCTGGAAGGTGACGTGAAAGATCACTGTGCAGC | |||||||||||||
| Altered gDNA sequence snippet | ATCAGGTTCCTGGAAGGTGATGTGAAAGATCACTGTGCAGC | |||||||||||||
| Original cDNA sequence snippet | AAATGGTTCCTGGAAGGTGACGTGAAAGATCACTGTGCAGC | |||||||||||||
| Altered cDNA sequence snippet | AAATGGTTCCTGGAAGGTGATGTGAAAGATCACTGTGCAGC | |||||||||||||
| Wildtype AA sequence | MTVSTDNLLV NKAISKSGQL PTSSNLEANI SCSLNELTYN NLPANENQNL KEQNQTEKSL KSPSDTLDGR NENLQESEIL SQPKSLSLEA TSPLSAEKHS CTVPEGLLFP AEYYVRTTRS MSNCQRKVAV EAVIQSHLDV KKKGFKNKNK DASKNLNLSN EETDQSEIRM SGTCTGQPSS RTSQKLLSLT KVSSPAGPTE DNDLSRKAVA QAPGRRYTGK RKSACTPASD HCEPLLPTSS LSIVNRSKEE VTSHKYQHEK LFIQVKGKKS RHQKEDSLSW SNSAYLSLDD DAFTAPFHRD GMLSLKQLLS FLSITDFQLP DEDFGPLKLE KVKSCSEKPV EPFESKMFGE RHLKEGSCIF PEELSPKRMD TEMEDLEEDL IVLPGKSHPK RPNSQSQHTK TGLSSSILLY TPLNTVAPDD NDRPTTDMCS PAFPILGTTP AFGPQGSYEK ASTEVAGRTC CTPQLAHLKD SVCLASDTKQ FDSSGSPAKP HTTLQVSGRQ GQPTCDCDSV PPGTPPPIES FTFKENQLCR NTCQELHKHS VEQTETAELP ASDSINPGNL QLVSELKNPS GSCSVDVSAM FWERAGCKEP CIITACEDVV SLWKALDAWQ WEKLYTWHFA EVPVLQIVPV PDVYNLVCVA LGNLEIREIR ALFCSSDDES EKQVLLKSGN IKAVLGLTKR RLVSSSGTLS DQQVEVMTFA EDGGGKENQF LMPPEETILT FAEVQGMQEA LLGTTIMNNI VIWNLKTGQL LKKMHIDDSY QASVCHKAYS EMVPGR* | |||||||||||||
| Mutated AA sequence | MTVSTDNLLV NKAISKSGQL PTSSNLEANI SCSLNELTYN NLPANENQNL KEQNQTEKSL KSPSDTLDGR NENLQESEIL SQPKSLSLEA TSPLSAEKHS CTVPEGLLFP AEYYVRTTRS MSNCQRKVAV EAVIQSHLDV KKKGFKNKNK DASKNLNLSN EETDQSEIRM SGTCTGQPSS RTSQKLLSLT KVSSPAGPTE DNDLSRKAVA QAPGRRYTGK RKSACTPASD HCEPLLPTSS LSIVNRSKEE VTSHKYQHEK LFIQVKGKKS RHQKEDSLSW SNSAYLSLDD DAFTAPFHRD GMLSLKQLLS FLSITDFQLP DEDFGPLKLE KVKSCSEKPV EPFESKMFGE RHLKEGSCIF PEELSPKRMD TEMEDLEEDL IVLPGKSHPK RPNSQSQHTK TGLSSSILLY TPLNTVAPDD NDRPTTDMCS PAFPILGTTP AFGPQGSYEK ASTEVAGRTC CTPQLAHLKD SVCLASDTKQ FDSSGSPAKP HTTLQVSGRQ GQPTCDCDSV PPGTPPPIES FTFKENQLCR NTCQELHKHS VEQTETAELP ASDSINPGNL QLVSELKNPS GSCSVDVSAM FWERAGCKEP CIITACEDVV SLWKALDAWQ WEKLYTWHFA EVPVLQIVPV PDVYNLVCVA LGNLEIREIR ALFCSSDDES EKQVLLKSGN IKAVLGLTKR RLVSSSGTLS DQQVEVMTFA EDGGGKENQF LMPPEETILT FAEVQGMQEA LLGTTIMNNI VIWNLKTGQL LKKMHIDDSY QASVCHKAYS EMVPGR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2331 / 2331 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 777 / 777 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3518 / 3518 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1188 / 1188 | |||||||||||||
| Last intron/exon boundary | 3503 | |||||||||||||
| Theoretical NMD boundary in CDS | 2265 | |||||||||||||
| Length of CDS | 2331 | |||||||||||||
| Coding sequence (CDS) position | 2332 | |||||||||||||
| cDNA position | 3519 | |||||||||||||
| gDNA position | 37668 | |||||||||||||
| Chromosomal position | 23603654 | |||||||||||||
| 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 | Chr16:23603654G>A (GRCh38) | |||||||||||||
| Gene symbol | PALB2 | |||||||||||||
| Gene constraints | LOEUF: 0.90, LOF (oe): 0.74, misssense (oe): 0.94, synonymous (oe): 0.93 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000261584.9 | |||||||||||||
| Genbank transcript ID | NM_024675 (exact from MANE), NM_001407296 (by similarity), NM_001407297 (by similarity), NM_001407298 (by similarity), NM_001407300 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3366C>T g.37668C>T | |||||||||||||
| 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 | 16 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 16 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | ATCAGGTTCCTGGAAGGTGACGTGAAAGATCACTGTGCAGC | |||||||||||||
| Altered gDNA sequence snippet | ATCAGGTTCCTGGAAGGTGATGTGAAAGATCACTGTGCAGC | |||||||||||||
| Original cDNA sequence snippet | GGCAGGTTCCTGGAAGGTGACGTGAAAGATCACTGTGCAGC | |||||||||||||
| Altered cDNA sequence snippet | GGCAGGTTCCTGGAAGGTGATGTGAAAGATCACTGTGCAGC | |||||||||||||
| Wildtype AA sequence | MDEPPGKPLS CEEKEKLKEK LAFLKREYSK TLARLQRAQR AEKIKHSIKK TVEEQDCLSQ QDLSPQLKHS EPKNKICVYD KLHIKTHLDE ETGEKTSITL DVGPESFNPG DGPGGLPIQR TDDTQEHFPH RVSDPSGEQK QKLPSRRKKQ QKRTFISQER DCVFGTDSLR LSGKRLKEQE EISSKNPARS PVTEIRTHLL SLKSELPDSP EPVTEINEDS VLIPPTAQPE KGVDTFLRRP NFTRATTVPL QTLSDSGSSQ HLEHIPPKGS SELTTHDLKN IRFTSPVSLE AQGKKMTVST DNLLVNKAIS KSGQLPTSSN LEANISCSLN ELTYNNLPAN ENQNLKEQNQ TEKSLKSPSD TLDGRNENLQ ESEILSQPKS LSLEATSPLS AEKHSCTVPE GLLFPAEYYV RTTRSMSNCQ RKVAVEAVIQ SHLDVKKKGF KNKNKDASKN LNLSNEETDQ SEIRMSGTCT GQPSSRTSQK LLSLTKVSSP AGPTEDNDLS RKAVAQAPGR RYTGKRKSAC TPASDHCEPL LPTSSLSIVN RSKEEVTSHK YQHEKLFIQV KGKKSRHQKE DSLSWSNSAY LSLDDDAFTA PFHRDGMLSL KQLLSFLSIT DFQLPDEDFG PLKLEKVKSC SEKPVEPFES KMFGERHLKE GSCIFPEELS PKRMDTEMED LEEDLIVLPG KSHPKRPNSQ SQHTKTGLSS SILLYTPLNT VAPDDNDRPT TDMCSPAFPI LGTTPAFGPQ GSYEKASTEV AGRTCCTPQL AHLKDSVCLA SDTKQFDSSG SPAKPHTTLQ VSGRQGQPTC DCDSVPPGTP PPIESFTFKE NQLCRNTCQE LHKHSVEQTE TAELPASDSI NPGNLQLVSE LKNPSGSCSV DVSAMFWERA GCKEPCIITA CEDVVSLWKA LDAWQWEKLY TWHFAEVPVL QIVPVPDVYN LVCVALGNLE IREIRALFCS SDDESEKQVL LKSGNIKAVL GLTKRRLVSS SGTLSDQQVE VMTFAEDGGG KENQFLMPPE ETILTFAEVQ GMQEALLGTT IMNNIVIWNL KTGQLLKKMH IDDSYQASVC HKAYSEMGLL FIVLSHPCAK ESESLRSPVF QLIVINPKTT LSVGVMLYCL PPGQAGRFLE GDVKDHCAAA ILTSGTIAIW DLLLGQCTAL LPPVSDQHWS FVKWSGTDSH LLAGQKDGNI FVYHYS* | |||||||||||||
| Mutated AA sequence | MDEPPGKPLS CEEKEKLKEK LAFLKREYSK TLARLQRAQR AEKIKHSIKK TVEEQDCLSQ QDLSPQLKHS EPKNKICVYD KLHIKTHLDE ETGEKTSITL DVGPESFNPG DGPGGLPIQR TDDTQEHFPH RVSDPSGEQK QKLPSRRKKQ QKRTFISQER DCVFGTDSLR LSGKRLKEQE EISSKNPARS PVTEIRTHLL SLKSELPDSP EPVTEINEDS VLIPPTAQPE KGVDTFLRRP NFTRATTVPL QTLSDSGSSQ HLEHIPPKGS SELTTHDLKN IRFTSPVSLE AQGKKMTVST DNLLVNKAIS KSGQLPTSSN LEANISCSLN ELTYNNLPAN ENQNLKEQNQ TEKSLKSPSD TLDGRNENLQ ESEILSQPKS LSLEATSPLS AEKHSCTVPE GLLFPAEYYV RTTRSMSNCQ RKVAVEAVIQ SHLDVKKKGF KNKNKDASKN LNLSNEETDQ SEIRMSGTCT GQPSSRTSQK LLSLTKVSSP AGPTEDNDLS RKAVAQAPGR RYTGKRKSAC TPASDHCEPL LPTSSLSIVN RSKEEVTSHK YQHEKLFIQV KGKKSRHQKE DSLSWSNSAY LSLDDDAFTA PFHRDGMLSL KQLLSFLSIT DFQLPDEDFG PLKLEKVKSC SEKPVEPFES KMFGERHLKE GSCIFPEELS PKRMDTEMED LEEDLIVLPG KSHPKRPNSQ SQHTKTGLSS SILLYTPLNT VAPDDNDRPT TDMCSPAFPI LGTTPAFGPQ GSYEKASTEV AGRTCCTPQL AHLKDSVCLA SDTKQFDSSG SPAKPHTTLQ VSGRQGQPTC DCDSVPPGTP PPIESFTFKE NQLCRNTCQE LHKHSVEQTE TAELPASDSI NPGNLQLVSE LKNPSGSCSV DVSAMFWERA GCKEPCIITA CEDVVSLWKA LDAWQWEKLY TWHFAEVPVL QIVPVPDVYN LVCVALGNLE IREIRALFCS SDDESEKQVL LKSGNIKAVL GLTKRRLVSS SGTLSDQQVE VMTFAEDGGG KENQFLMPPE ETILTFAEVQ GMQEALLGTT IMNNIVIWNL KTGQLLKKMH IDDSYQASVC HKAYSEMGLL FIVLSHPCAK ESESLRSPVF QLIVINPKTT LSVGVMLYCL PPGQAGRFLE GDVKDHCAAA ILTSGTIAIW DLLLGQCTAL LPPVSDQHWS FVKWSGTDSH LLAGQKDGNI FVYHYS* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3561 / 3561 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1187 / 1187 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3714 / 3714 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 154 / 154 | |||||||||||||
| Last intron/exon boundary | 3503 | |||||||||||||
| Theoretical NMD boundary in CDS | 3299 | |||||||||||||
| Length of CDS | 3561 | |||||||||||||
| Coding sequence (CDS) position | 3366 | |||||||||||||
| cDNA position | 3519 | |||||||||||||
| gDNA position | 37668 | |||||||||||||
| Chromosomal position | 23603654 | |||||||||||||
| 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 | Chr16:23603654G>A (GRCh38) | |||||||||||||
| Gene symbol | PALB2 | |||||||||||||
| Gene constraints | LOEUF: 1.00, LOF (oe): 0.81, misssense (oe): 0.95, synonymous (oe): 0.92 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000568219.5 | |||||||||||||
| Genbank transcript ID | NM_001407308 (by similarity), NM_001407306 (by similarity), NM_001407312 (by similarity), NM_001407307 (by similarity), NM_001407309 (by similarity), NM_001407305 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.2481C>T g.37668C>T | |||||||||||||
| 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 | 16 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 16 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | ATCAGGTTCCTGGAAGGTGACGTGAAAGATCACTGTGCAGC | |||||||||||||
| Altered gDNA sequence snippet | ATCAGGTTCCTGGAAGGTGATGTGAAAGATCACTGTGCAGC | |||||||||||||
| Original cDNA sequence snippet | GGCAGGTTCCTGGAAGGTGACGTGAAAGATCACTGTGCAGC | |||||||||||||
| Altered cDNA sequence snippet | GGCAGGTTCCTGGAAGGTGATGTGAAAGATCACTGTGCAGC | |||||||||||||
| Wildtype AA sequence | MTVSTDNLLV NKAISKSGQL PTSSNLEANI SCSLNELTYN NLPANENQNL KEQNQTEKSL KSPSDTLDGR NENLQESEIL SQPKSLSLEA TSPLSAEKHS CTVPEGLLFP AEYYVRTTRS MSNCQRKVAV EAVIQSHLDV KKKGFKNKNK DASKNLNLSN EETDQSEIRM SGTCTGQPSS RTSQKLLSLT KVSSPAGPTE DNDLSRKAVA QAPGRRYTGK RKSACTPASD HCEPLLPTSS LSIVNRSKEE VTSHKYQHEK LFIQVKGKKS RHQKEDSLSW SNSAYLSLDD DAFTAPFHRD GMLSLKQLLS FLSITDFQLP DEDFGPLKLE KVKSCSEKPV EPFESKMFGE RHLKEGSCIF PEELSPKRMD TEMEDLEEDL IVLPGKSHPK RPNSQSQHTK TGLSSSILLY TPLNTVAPDD NDRPTTDMCS PAFPILGTTP AFGPQGSYEK ASTEVAGRTC CTPQLAHLKD SVCLASDTKQ FDSSGSPAKP HTTLQVSGRQ GQPTCDCDSV PPGTPPPIES FTFKENQLCR NTCQELHKHS VEQTETAELP ASDSINPGNL QLVSELKNPS GSCSVDVSAM FWERAGCKEP CIITACEDVV SLWKALDAWQ WEKLYTWHFA EVPVLQIVPV PDVYNLVCVA LGNLEIREIR ALFCSSDDES EKQVLLKSGN IKAVLGLTKR RLVSSSGTLS DQQVEVMTFA EDGGGKENQF LMPPEETILT FAEVQGMQEA LLGTTIMNNI VIWNLKTGQL LKKMHIDDSY QASVCHKAYS EMGLLFIVLS HPCAKESESL RSPVFQLIVI NPKTTLSVGV MLYCLPPGQA GRFLEGDVKD HCAAAILTSG TIAIWDLLLG QCTALLPPVS DQHWSFVKWS GTDSHLLAGQ KDGNIFVYHY S* | |||||||||||||
| Mutated AA sequence | MTVSTDNLLV NKAISKSGQL PTSSNLEANI SCSLNELTYN NLPANENQNL KEQNQTEKSL KSPSDTLDGR NENLQESEIL SQPKSLSLEA TSPLSAEKHS CTVPEGLLFP AEYYVRTTRS MSNCQRKVAV EAVIQSHLDV KKKGFKNKNK DASKNLNLSN EETDQSEIRM SGTCTGQPSS RTSQKLLSLT KVSSPAGPTE DNDLSRKAVA QAPGRRYTGK RKSACTPASD HCEPLLPTSS LSIVNRSKEE VTSHKYQHEK LFIQVKGKKS RHQKEDSLSW SNSAYLSLDD DAFTAPFHRD GMLSLKQLLS FLSITDFQLP DEDFGPLKLE KVKSCSEKPV EPFESKMFGE RHLKEGSCIF PEELSPKRMD TEMEDLEEDL IVLPGKSHPK RPNSQSQHTK TGLSSSILLY TPLNTVAPDD NDRPTTDMCS PAFPILGTTP AFGPQGSYEK ASTEVAGRTC CTPQLAHLKD SVCLASDTKQ FDSSGSPAKP HTTLQVSGRQ GQPTCDCDSV PPGTPPPIES FTFKENQLCR NTCQELHKHS VEQTETAELP ASDSINPGNL QLVSELKNPS GSCSVDVSAM FWERAGCKEP CIITACEDVV SLWKALDAWQ WEKLYTWHFA EVPVLQIVPV PDVYNLVCVA LGNLEIREIR ALFCSSDDES EKQVLLKSGN IKAVLGLTKR RLVSSSGTLS DQQVEVMTFA EDGGGKENQF LMPPEETILT FAEVQGMQEA LLGTTIMNNI VIWNLKTGQL LKKMHIDDSY QASVCHKAYS EMGLLFIVLS HPCAKESESL RSPVFQLIVI NPKTTLSVGV MLYCLPPGQA GRFLEGDVKD HCAAAILTSG TIAIWDLLLG QCTALLPPVS DQHWSFVKWS GTDSHLLAGQ KDGNIFVYHY S* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2676 / 2676 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 892 / 892 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3672 / 3672 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 997 / 997 | |||||||||||||
| Last intron/exon boundary | 3461 | |||||||||||||
| Theoretical NMD boundary in CDS | 2414 | |||||||||||||
| Length of CDS | 2676 | |||||||||||||
| Coding sequence (CDS) position | 2481 | |||||||||||||
| cDNA position | 3477 | |||||||||||||
| gDNA position | 37668 | |||||||||||||
| Chromosomal position | 23603654 | |||||||||||||
| 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 | Chr16:23603654G>A (GRCh38) | |||||||||||||
| Gene symbol | PALB2 | |||||||||||||
| Gene constraints | LOEUF: 1.18, LOF (oe): 0.60, misssense (oe): 0.99, synonymous (oe): 0.86 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000561514.3 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.3372C>T g.37668C>T | |||||||||||||
| 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 | 16 | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | No | |||||||||||||
| Chromosome | 16 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | ATCAGGTTCCTGGAAGGTGACGTGAAAGATCACTGTGCAGC | |||||||||||||
| Altered gDNA sequence snippet | ATCAGGTTCCTGGAAGGTGATGTGAAAGATCACTGTGCAGC | |||||||||||||
| Original cDNA sequence snippet | GGCAGGTTCCTGGAAGGTGACGTGAAAGATCACTGTGCAGC | |||||||||||||
| Altered cDNA sequence snippet | GGCAGGTTCCTGGAAGGTGATGTGAAAGATCACTGTGCAGC | |||||||||||||
| Wildtype AA sequence | MFPACADVIL ILAYLLVELK EKLAFLKREY SKTLARLQRA QRAEKIKHSI KKTVEEQDCL SQQDLSPQLK HSEPKNKICV YDKLHIKTHL DEETGEKTSI TLDVGPESFN PGDGPGGLPI QRTDDTQEHF PHRVSDPSGE QKQKLPSRRK KQQKRTFISQ ERDCVFGTDS LRLSGKRLKE QEEISSKNPA RSPVTEIRTH LLSLKSELPD SPEPVTEINE DSVLIPPTAQ PEKGVDTFLR RPNFTRATTV PLQTLSDSGS SQHLEHIPPK GSSELTTHDL KNIRFTSPVS LEAQGKKMTV STDNLLVNKA ISKSGQLPTS SNLEANISCS LNELTYNNLP ANENQNLKEQ NQTEKSLKSP SDTLDGRNEN LQESEILSQP KSLSLEATSP LSAEKHSCTV PEGLLFPAEY YVRTTRSMSN CQRKVAVEAV IQSHLDVKKK GFKNKNKDAS KNLNLSNEET DQSEIRMSGT CTGQPSSRTS QKLLSLTKVS SPAGPTEDND LSRKAVAQAP GRRYTGKRKS ACTPASDHCE PLLPTSSLSI VNRSKEEVTS HKYQHEKLFI QVKGKKSRHQ KEDSLSWSNS AYLSLDDDAF TAPFHRDGML SLKQLLSFLS ITDFQLPDED FGPLKLEKVK SCSEKPVEPF ESKMFGERHL KEGSCIFPEE LSPKRMDTEM EDLEEDLIVL PGKSHPKRPN SQSQHTKTGL SSSILLYTPL NTVAPDDNDR PTTDMCSPAF PILGTTPAFG PQGSYEKAST EVAGRTCCTP QLAHLKDSVC LASDTKQFDS SGSPAKPHTT LQVSGRQGQP TCDCDSVPPG TPPPIESFTF KENQLCRNTC QELHKHSVEQ TETAELPASD SINPGNLQLV SELKNPSGSC SVDVSAMFWE RAGCKEPCII TACEDVVSLW KALDAWQWEK LYTWHFAEVP VLQIVPVPDV YNLVCVALGN LEIREIRALF CSSDDESEKQ VLLKSGNIKA VLGLTKRRLV SSSGTLSDQQ VEVMTFAEDG GGKENQFLMP PEETILTFAE VQGMQEALLG TTIMNNIVIW NLKTGQLLKK MHIDDSYQAS VCHKAYSEMG LLFIVLSHPC AKESESLRSP VFQLIVINPK TTLSVGVMLY CLPPGQAGRF LEGDVKDHCA AAILTSGTIA IWDLLLGQCT ALLPPVSDQH WSFVKWSGTD SHLLAGQKDG NIFVYHYS* | |||||||||||||
| Mutated AA sequence | MFPACADVIL ILAYLLVELK EKLAFLKREY SKTLARLQRA QRAEKIKHSI KKTVEEQDCL SQQDLSPQLK HSEPKNKICV YDKLHIKTHL DEETGEKTSI TLDVGPESFN PGDGPGGLPI QRTDDTQEHF PHRVSDPSGE QKQKLPSRRK KQQKRTFISQ ERDCVFGTDS LRLSGKRLKE QEEISSKNPA RSPVTEIRTH LLSLKSELPD SPEPVTEINE DSVLIPPTAQ PEKGVDTFLR RPNFTRATTV PLQTLSDSGS SQHLEHIPPK GSSELTTHDL KNIRFTSPVS LEAQGKKMTV STDNLLVNKA ISKSGQLPTS SNLEANISCS LNELTYNNLP ANENQNLKEQ NQTEKSLKSP SDTLDGRNEN LQESEILSQP KSLSLEATSP LSAEKHSCTV PEGLLFPAEY YVRTTRSMSN CQRKVAVEAV IQSHLDVKKK GFKNKNKDAS KNLNLSNEET DQSEIRMSGT CTGQPSSRTS QKLLSLTKVS SPAGPTEDND LSRKAVAQAP GRRYTGKRKS ACTPASDHCE PLLPTSSLSI VNRSKEEVTS HKYQHEKLFI QVKGKKSRHQ KEDSLSWSNS AYLSLDDDAF TAPFHRDGML SLKQLLSFLS ITDFQLPDED FGPLKLEKVK SCSEKPVEPF ESKMFGERHL KEGSCIFPEE LSPKRMDTEM EDLEEDLIVL PGKSHPKRPN SQSQHTKTGL SSSILLYTPL NTVAPDDNDR PTTDMCSPAF PILGTTPAFG PQGSYEKAST EVAGRTCCTP QLAHLKDSVC LASDTKQFDS SGSPAKPHTT LQVSGRQGQP TCDCDSVPPG TPPPIESFTF KENQLCRNTC QELHKHSVEQ TETAELPASD SINPGNLQLV SELKNPSGSC SVDVSAMFWE RAGCKEPCII TACEDVVSLW KALDAWQWEK LYTWHFAEVP VLQIVPVPDV YNLVCVALGN LEIREIRALF CSSDDESEKQ VLLKSGNIKA VLGLTKRRLV SSSGTLSDQQ VEVMTFAEDG GGKENQFLMP PEETILTFAE VQGMQEALLG TTIMNNIVIW NLKTGQLLKK MHIDDSYQAS VCHKAYSEMG LLFIVLSHPC AKESESLRSP VFQLIVINPK TTLSVGVMLY CLPPGQAGRF LEGDVKDHCA AAILTSGTIA IWDLLLGQCT ALLPPVSDQH WSFVKWSGTD SHLLAGQKDG NIFVYHYS* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 3567 / 3567 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 1189 / 1189 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 4566 / 4566 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 1000 / 1000 | |||||||||||||
| Last intron/exon boundary | 4355 | |||||||||||||
| Theoretical NMD boundary in CDS | 3305 | |||||||||||||
| Length of CDS | 3567 | |||||||||||||
| Coding sequence (CDS) position | 3372 | |||||||||||||
| cDNA position | 4371 | |||||||||||||
| gDNA position | 37668 | |||||||||||||
| Chromosomal position | 23603654 | |||||||||||||
| 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