Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 6 transcript(s)...
Querying Taster for transcript #1: ENST00000374840
Querying Taster for transcript #2: ENST00000374832
Querying Taster for transcript #3: ENST00000374830
Querying Taster for transcript #4: ENST00000425315
Querying Taster for transcript #5: ENST00000539907
Querying Taster for transcript #6: ENST00000540617
MT speed 0 s - this script 5.548673 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ALPLdisease_causing_automatic0.998905949641069simple_aaeaffected0E298Ksingle base exchangers121918017show file
ALPLdisease_causing_automatic0.998905949641069simple_aaeaffected0E298Ksingle base exchangers121918017show file
ALPLdisease_causing_automatic0.998905949641069simple_aaeaffected0E298Ksingle base exchangers121918017show file
ALPLdisease_causing_automatic0.998905949641069simple_aaeaffected0E221Ksingle base exchangers121918017show file
ALPLdisease_causing_automatic0.998905949641069simple_aaeaffected0E243Ksingle base exchangers121918017show file
ALPLdisease_causing_automatic1without_aaeaffected0single base exchangers121918017show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.998905949641069 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM940043)
  • known disease mutation: rs13669 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:21900187G>AN/A show variant in all transcripts   IGV
HGNC symbol ALPL
Ensembl transcript ID ENST00000374840
Genbank transcript ID NM_000478
UniProt peptide P05186
alteration type single base exchange
alteration region CDS
DNA changes c.892G>A
cDNA.1142G>A
g.64330G>A
AA changes E298K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 298
frameshift no
known variant Reference ID: rs121918017
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs13669 (pathogenic for Infantile hypophosphatasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940043)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940043)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940043)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1780.998
3.1111
(flanking)3.8781
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased64334wt: 0.25 / mu: 0.59wt: CGAGCTGAACAGGAA
mu: CAAGCTGAACAGGAA		 AGCT|gaac
Donor increased64326wt: 0.47 / mu: 0.96wt: ATGCAGTACGAGCTG
mu: ATGCAGTACAAGCTG		 GCAG|tacg
Donor increased64331wt: 0.83 / mu: 0.93wt: GTACGAGCTGAACAG
mu: GTACAAGCTGAACAG		 ACGA|gctg
Donor gained643250.33mu: CATGCAGTACAAGCT TGCA|gtac
distance from splice site 30
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      298LGLFEPGDMQYELNRNNVTDPSLS
mutated  all conserved    298LGLFEPGDMQYKLN
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002217  298LGLFEPGDMEYELN
Fcatus  all identical  ENSFCAG00000002960  298LGLFEPGDMQYELN
Mmusculus  all identical  ENSMUSG00000028766  298LGLFEPGDMQYELN
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000004463  299LGLFEPEDMTYDLERNPETDPSL
Drerio  all identical  ENSDARG00000015546  335LGLFEPADLNYELERN
Dmelanogaster  not conserved  FBgn0043791  333LGLFAPYHMAYHLDASPAEQPTL
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
303303CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
332332METALMagnesium (Potential).might get lost (downstream of altered splice site)
337337METALZinc 1 (Potential).might get lost (downstream of altered splice site)
341341METALZinc 1 (Potential).might get lost (downstream of altered splice site)
361361CONFLICTQ -> H (in Ref. 1; BAA32129).might get lost (downstream of altered splice site)
378378METALZinc 2 (Potential).might get lost (downstream of altered splice site)
379379METALZinc 2 (Potential).might get lost (downstream of altered splice site)
430430CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
446446CONFLICTA -> P (in Ref. 1; BAA32129).might get lost (downstream of altered splice site)
454454METALZinc 1 (Potential).might get lost (downstream of altered splice site)
502502LIPIDGPI-anchor amidated serine (Probable).might get lost (downstream of altered splice site)
503524PROPEPRemoved in mature form (Probable). /FTId=PRO_0000024024.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1575 / 1575
position (AA) of stopcodon in wt / mu AA sequence 525 / 525
position of stopcodon in wt / mu cDNA 1825 / 1825
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 251 / 251
chromosome 1
strand 1
last intron/exon boundary 1560
theoretical NMD boundary in CDS 1259
length of CDS 1575
coding sequence (CDS) position 892
cDNA position
(for ins/del: last normal base / first normal base)		 1142
gDNA position
(for ins/del: last normal base / first normal base)		 64330
chromosomal position
(for ins/del: last normal base / first normal base)		 21900187
original gDNA sequence snippet AGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTG
altered gDNA sequence snippet AGCCAGGGGACATGCAGTACAAGCTGAACAGGAACAACGTG
original cDNA sequence snippet AGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTG
altered cDNA sequence snippet AGCCAGGGGACATGCAGTACAAGCTGAACAGGAACAACGTG
wildtype AA sequence MISPFLVLAI GTCLTNSLVP EKEKDPKYWR DQAQETLKYA LELQKLNTNV AKNVIMFLGD
GMGVSTVTAA RILKGQLHHN PGEETRLEMD KFPFVALSKT YNTNAQVPDS AGTATAYLCG
VKANEGTVGV SAATERSRCN TTQGNEVTSI LRWAKDAGKS VGIVTTTRVN HATPSAAYAH
SADRDWYSDN EMPPEALSQG CKDIAYQLMH NIRDIDVIMG GGRKYMYPKN KTDVEYESDE
KARGTRLDGL DLVDTWKSFK PRYKHSHFIW NRTELLTLDP HNVDYLLGLF EPGDMQYELN
RNNVTDPSLS EMVVVAIQIL RKNPKGFFLL VEGGRIDHGH HEGKAKQALH EAVEMDRAIG
QAGSLTSSED TLTVVTADHS HVFTFGGYTP RGNSIFGLAP MLSDTDKKPF TAILYGNGPG
YKVVGGEREN VSMVDYAHNN YQAQSAVPLR HETHGGEDVA VFSKGPMAHL LHGVHEQNYV
PHVMAYAACI GANLGHCAPA SSAGSLAAGP LLLALALYPL SVLF*
mutated AA sequence MISPFLVLAI GTCLTNSLVP EKEKDPKYWR DQAQETLKYA LELQKLNTNV AKNVIMFLGD
GMGVSTVTAA RILKGQLHHN PGEETRLEMD KFPFVALSKT YNTNAQVPDS AGTATAYLCG
VKANEGTVGV SAATERSRCN TTQGNEVTSI LRWAKDAGKS VGIVTTTRVN HATPSAAYAH
SADRDWYSDN EMPPEALSQG CKDIAYQLMH NIRDIDVIMG GGRKYMYPKN KTDVEYESDE
KARGTRLDGL DLVDTWKSFK PRYKHSHFIW NRTELLTLDP HNVDYLLGLF EPGDMQYKLN
RNNVTDPSLS EMVVVAIQIL RKNPKGFFLL VEGGRIDHGH HEGKAKQALH EAVEMDRAIG
QAGSLTSSED TLTVVTADHS HVFTFGGYTP RGNSIFGLAP MLSDTDKKPF TAILYGNGPG
YKVVGGEREN VSMVDYAHNN YQAQSAVPLR HETHGGEDVA VFSKGPMAHL LHGVHEQNYV
PHVMAYAACI GANLGHCAPA SSAGSLAAGP LLLALALYPL SVLF*
speed 0.45 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.998905949641069 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM940043)
  • known disease mutation: rs13669 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:21900187G>AN/A show variant in all transcripts   IGV
HGNC symbol ALPL
Ensembl transcript ID ENST00000374832
Genbank transcript ID N/A
UniProt peptide P05186
alteration type single base exchange
alteration region CDS
DNA changes c.892G>A
cDNA.1146G>A
g.64330G>A
AA changes E298K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 298
frameshift no
known variant Reference ID: rs121918017
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs13669 (pathogenic for Infantile hypophosphatasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940043)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940043)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940043)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1780.998
3.1111
(flanking)3.8781
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased64334wt: 0.25 / mu: 0.59wt: CGAGCTGAACAGGAA
mu: CAAGCTGAACAGGAA		 AGCT|gaac
Donor increased64326wt: 0.47 / mu: 0.96wt: ATGCAGTACGAGCTG
mu: ATGCAGTACAAGCTG		 GCAG|tacg
Donor increased64331wt: 0.83 / mu: 0.93wt: GTACGAGCTGAACAG
mu: GTACAAGCTGAACAG		 ACGA|gctg
Donor gained643250.33mu: CATGCAGTACAAGCT TGCA|gtac
distance from splice site 30
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      298LGLFEPGDMQYELNRNNVTDPSLS
mutated  all conserved    298LGLFEPGDMQYKLN
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002217  298LGLFEPGDMEYELN
Fcatus  all identical  ENSFCAG00000002960  298LGLFEPGDMQYELN
Mmusculus  all identical  ENSMUSG00000028766  298LGLFEPGDMQYELN
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000004463  299LGLFEPEDMTYDLERNPETDPSL
Drerio  all identical  ENSDARG00000015546  335LGLFEPADLNYELERN
Dmelanogaster  not conserved  FBgn0043791  333LGLFAPYHMAYHLDASPAEQPTL
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
303303CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
332332METALMagnesium (Potential).might get lost (downstream of altered splice site)
337337METALZinc 1 (Potential).might get lost (downstream of altered splice site)
341341METALZinc 1 (Potential).might get lost (downstream of altered splice site)
361361CONFLICTQ -> H (in Ref. 1; BAA32129).might get lost (downstream of altered splice site)
378378METALZinc 2 (Potential).might get lost (downstream of altered splice site)
379379METALZinc 2 (Potential).might get lost (downstream of altered splice site)
430430CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
446446CONFLICTA -> P (in Ref. 1; BAA32129).might get lost (downstream of altered splice site)
454454METALZinc 1 (Potential).might get lost (downstream of altered splice site)
502502LIPIDGPI-anchor amidated serine (Probable).might get lost (downstream of altered splice site)
503524PROPEPRemoved in mature form (Probable). /FTId=PRO_0000024024.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1575 / 1575
position (AA) of stopcodon in wt / mu AA sequence 525 / 525
position of stopcodon in wt / mu cDNA 1829 / 1829
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 255 / 255
chromosome 1
strand 1
last intron/exon boundary 1564
theoretical NMD boundary in CDS 1259
length of CDS 1575
coding sequence (CDS) position 892
cDNA position
(for ins/del: last normal base / first normal base)		 1146
gDNA position
(for ins/del: last normal base / first normal base)		 64330
chromosomal position
(for ins/del: last normal base / first normal base)		 21900187
original gDNA sequence snippet AGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTG
altered gDNA sequence snippet AGCCAGGGGACATGCAGTACAAGCTGAACAGGAACAACGTG
original cDNA sequence snippet AGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTG
altered cDNA sequence snippet AGCCAGGGGACATGCAGTACAAGCTGAACAGGAACAACGTG
wildtype AA sequence MISPFLVLAI GTCLTNSLVP EKEKDPKYWR DQAQETLKYA LELQKLNTNV AKNVIMFLGD
GMGVSTVTAA RILKGQLHHN PGEETRLEMD KFPFVALSKT YNTNAQVPDS AGTATAYLCG
VKANEGTVGV SAATERSRCN TTQGNEVTSI LRWAKDAGKS VGIVTTTRVN HATPSAAYAH
SADRDWYSDN EMPPEALSQG CKDIAYQLMH NIRDIDVIMG GGRKYMYPKN KTDVEYESDE
KARGTRLDGL DLVDTWKSFK PRYKHSHFIW NRTELLTLDP HNVDYLLGLF EPGDMQYELN
RNNVTDPSLS EMVVVAIQIL RKNPKGFFLL VEGGRIDHGH HEGKAKQALH EAVEMDRAIG
QAGSLTSSED TLTVVTADHS HVFTFGGYTP RGNSIFGLAP MLSDTDKKPF TAILYGNGPG
YKVVGGEREN VSMVDYAHNN YQAQSAVPLR HETHGGEDVA VFSKGPMAHL LHGVHEQNYV
PHVMAYAACI GANLGHCAPA SSAGSLAAGP LLLALALYPL SVLF*
mutated AA sequence MISPFLVLAI GTCLTNSLVP EKEKDPKYWR DQAQETLKYA LELQKLNTNV AKNVIMFLGD
GMGVSTVTAA RILKGQLHHN PGEETRLEMD KFPFVALSKT YNTNAQVPDS AGTATAYLCG
VKANEGTVGV SAATERSRCN TTQGNEVTSI LRWAKDAGKS VGIVTTTRVN HATPSAAYAH
SADRDWYSDN EMPPEALSQG CKDIAYQLMH NIRDIDVIMG GGRKYMYPKN KTDVEYESDE
KARGTRLDGL DLVDTWKSFK PRYKHSHFIW NRTELLTLDP HNVDYLLGLF EPGDMQYKLN
RNNVTDPSLS EMVVVAIQIL RKNPKGFFLL VEGGRIDHGH HEGKAKQALH EAVEMDRAIG
QAGSLTSSED TLTVVTADHS HVFTFGGYTP RGNSIFGLAP MLSDTDKKPF TAILYGNGPG
YKVVGGEREN VSMVDYAHNN YQAQSAVPLR HETHGGEDVA VFSKGPMAHL LHGVHEQNYV
PHVMAYAACI GANLGHCAPA SSAGSLAAGP LLLALALYPL SVLF*
speed 0.94 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.998905949641069 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM940043)
  • known disease mutation: rs13669 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:21900187G>AN/A show variant in all transcripts   IGV
HGNC symbol ALPL
Ensembl transcript ID ENST00000425315
Genbank transcript ID N/A
UniProt peptide P05186
alteration type single base exchange
alteration region CDS
DNA changes c.892G>A
cDNA.892G>A
g.64330G>A
AA changes E298K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 298
frameshift no
known variant Reference ID: rs121918017
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs13669 (pathogenic for Infantile hypophosphatasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940043)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940043)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940043)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1780.998
3.1111
(flanking)3.8781
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased64334wt: 0.25 / mu: 0.59wt: CGAGCTGAACAGGAA
mu: CAAGCTGAACAGGAA		 AGCT|gaac
Donor increased64326wt: 0.47 / mu: 0.96wt: ATGCAGTACGAGCTG
mu: ATGCAGTACAAGCTG		 GCAG|tacg
Donor increased64331wt: 0.83 / mu: 0.93wt: GTACGAGCTGAACAG
mu: GTACAAGCTGAACAG		 ACGA|gctg
Donor gained643250.33mu: CATGCAGTACAAGCT TGCA|gtac
distance from splice site 30
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      298LGLFEPGDMQYELNRNNVTDPSLS
mutated  all conserved    298LGLFEPGDMQYKLN
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002217  298LGLFEPGDMEYELN
Fcatus  all identical  ENSFCAG00000002960  298LGLFEPGDMQYELN
Mmusculus  all identical  ENSMUSG00000028766  298LGLFEPGDMQYELN
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000004463  299LGLFEPEDMTYDLERNPETDPSL
Drerio  all identical  ENSDARG00000015546  335LGLFEPADLNYELERN
Dmelanogaster  not conserved  FBgn0043791  333LGLFAPYHMAYHLDASPAEQPTL
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
303303CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
332332METALMagnesium (Potential).might get lost (downstream of altered splice site)
337337METALZinc 1 (Potential).might get lost (downstream of altered splice site)
341341METALZinc 1 (Potential).might get lost (downstream of altered splice site)
361361CONFLICTQ -> H (in Ref. 1; BAA32129).might get lost (downstream of altered splice site)
378378METALZinc 2 (Potential).might get lost (downstream of altered splice site)
379379METALZinc 2 (Potential).might get lost (downstream of altered splice site)
430430CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
446446CONFLICTA -> P (in Ref. 1; BAA32129).might get lost (downstream of altered splice site)
454454METALZinc 1 (Potential).might get lost (downstream of altered splice site)
502502LIPIDGPI-anchor amidated serine (Probable).might get lost (downstream of altered splice site)
503524PROPEPRemoved in mature form (Probable). /FTId=PRO_0000024024.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1575 / 1575
position (AA) of stopcodon in wt / mu AA sequence 525 / 525
position of stopcodon in wt / mu cDNA 1575 / 1575
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1 / 1
chromosome 1
strand 1
last intron/exon boundary 1310
theoretical NMD boundary in CDS 1259
length of CDS 1575
coding sequence (CDS) position 892
cDNA position
(for ins/del: last normal base / first normal base)		 892
gDNA position
(for ins/del: last normal base / first normal base)		 64330
chromosomal position
(for ins/del: last normal base / first normal base)		 21900187
original gDNA sequence snippet AGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTG
altered gDNA sequence snippet AGCCAGGGGACATGCAGTACAAGCTGAACAGGAACAACGTG
original cDNA sequence snippet AGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTG
altered cDNA sequence snippet AGCCAGGGGACATGCAGTACAAGCTGAACAGGAACAACGTG
wildtype AA sequence MISPFLVLAI GTCLTNSLVP EKEKDPKYWR DQAQETLKYA LELQKLNTNV AKNVIMFLGD
GMGVSTVTAA RILKGQLHHN PGEETRLEMD KFPFVALSKT YNTNAQVPDS AGTATAYLCG
VKANEGTVGV SAATERSRCN TTQGNEVTSI LRWAKDAGKS VGIVTTTRVN HATPSAAYAH
SADRDWYSDN EMPPEALSQG CKDIAYQLMH NIRDIDVIMG GGRKYMYPKN KTDVEYESDE
KARGTRLDGL DLVDTWKSFK PRYKHSHFIW NRTELLTLDP HNVDYLLGLF EPGDMQYELN
RNNVTDPSLS EMVVVAIQIL RKNPKGFFLL VEGGRIDHGH HEGKAKQALH EAVEMDRAIG
QAGSLTSSED TLTVVTADHS HVFTFGGYTP RGNSIFGLAP MLSDTDKKPF TAILYGNGPG
YKVVGGEREN VSMVDYAHNN YQAQSAVPLR HETHGGEDVA VFSKGPMAHL LHGVHEQNYV
PHVMAYAACI GANLGHCAPA SSAGSLAAGP LLLALALYPL SVLF*
mutated AA sequence MISPFLVLAI GTCLTNSLVP EKEKDPKYWR DQAQETLKYA LELQKLNTNV AKNVIMFLGD
GMGVSTVTAA RILKGQLHHN PGEETRLEMD KFPFVALSKT YNTNAQVPDS AGTATAYLCG
VKANEGTVGV SAATERSRCN TTQGNEVTSI LRWAKDAGKS VGIVTTTRVN HATPSAAYAH
SADRDWYSDN EMPPEALSQG CKDIAYQLMH NIRDIDVIMG GGRKYMYPKN KTDVEYESDE
KARGTRLDGL DLVDTWKSFK PRYKHSHFIW NRTELLTLDP HNVDYLLGLF EPGDMQYKLN
RNNVTDPSLS EMVVVAIQIL RKNPKGFFLL VEGGRIDHGH HEGKAKQALH EAVEMDRAIG
QAGSLTSSED TLTVVTADHS HVFTFGGYTP RGNSIFGLAP MLSDTDKKPF TAILYGNGPG
YKVVGGEREN VSMVDYAHNN YQAQSAVPLR HETHGGEDVA VFSKGPMAHL LHGVHEQNYV
PHVMAYAACI GANLGHCAPA SSAGSLAAGP LLLALALYPL SVLF*
speed 0.50 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.998905949641069 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM940043)
  • known disease mutation: rs13669 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:21900187G>AN/A show variant in all transcripts   IGV
HGNC symbol ALPL
Ensembl transcript ID ENST00000539907
Genbank transcript ID NM_001177520
UniProt peptide P05186
alteration type single base exchange
alteration region CDS
DNA changes c.661G>A
cDNA.868G>A
g.64330G>A
AA changes E221K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 221
frameshift no
known variant Reference ID: rs121918017
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs13669 (pathogenic for Infantile hypophosphatasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940043)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940043)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940043)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1780.998
3.1111
(flanking)3.8781
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased64334wt: 0.25 / mu: 0.59wt: CGAGCTGAACAGGAA
mu: CAAGCTGAACAGGAA		 AGCT|gaac
Donor increased64326wt: 0.47 / mu: 0.96wt: ATGCAGTACGAGCTG
mu: ATGCAGTACAAGCTG		 GCAG|tacg
Donor increased64331wt: 0.83 / mu: 0.93wt: GTACGAGCTGAACAG
mu: GTACAAGCTGAACAG		 ACGA|gctg
Donor gained643250.33mu: CATGCAGTACAAGCT TGCA|gtac
distance from splice site 30
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      221LGLFEPGDMQYELNRNNVTDPSLS
mutated  all conserved    221LGLFEPGDMQYKLNRNNVTDPSL
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002217  298LGLFEPGDMEYELNRNNVTDPSL
Fcatus  all identical  ENSFCAG00000002960  298LGLFEPGDMQYELNRNSTTDPSL
Mmusculus  all identical  ENSMUSG00000028766  298LGLFEPGDMQYELNRNNLTDPSL
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000004463  299LGLFEPEDMTYDLERNPETDPSL
Drerio  all identical  ENSDARG00000015546  334LGLFEPADLNYELERNTENDPSL
Dmelanogaster  not conserved  FBgn0043791  331LGLFAPYHMAYHLDASPAEQPTL
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
230230CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
271271CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
303303CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
332332METALMagnesium (Potential).might get lost (downstream of altered splice site)
337337METALZinc 1 (Potential).might get lost (downstream of altered splice site)
341341METALZinc 1 (Potential).might get lost (downstream of altered splice site)
361361CONFLICTQ -> H (in Ref. 1; BAA32129).might get lost (downstream of altered splice site)
378378METALZinc 2 (Potential).might get lost (downstream of altered splice site)
379379METALZinc 2 (Potential).might get lost (downstream of altered splice site)
430430CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
446446CONFLICTA -> P (in Ref. 1; BAA32129).might get lost (downstream of altered splice site)
454454METALZinc 1 (Potential).might get lost (downstream of altered splice site)
502502LIPIDGPI-anchor amidated serine (Probable).might get lost (downstream of altered splice site)
503524PROPEPRemoved in mature form (Probable). /FTId=PRO_0000024024.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1344 / 1344
position (AA) of stopcodon in wt / mu AA sequence 448 / 448
position of stopcodon in wt / mu cDNA 1551 / 1551
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 208 / 208
chromosome 1
strand 1
last intron/exon boundary 1286
theoretical NMD boundary in CDS 1028
length of CDS 1344
coding sequence (CDS) position 661
cDNA position
(for ins/del: last normal base / first normal base)		 868
gDNA position
(for ins/del: last normal base / first normal base)		 64330
chromosomal position
(for ins/del: last normal base / first normal base)		 21900187
original gDNA sequence snippet AGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTG
altered gDNA sequence snippet AGCCAGGGGACATGCAGTACAAGCTGAACAGGAACAACGTG
original cDNA sequence snippet AGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTG
altered cDNA sequence snippet AGCCAGGGGACATGCAGTACAAGCTGAACAGGAACAACGTG
wildtype AA sequence MPWSFRSSTP TWLRMSSCSW EMTYNTNAQV PDSAGTATAY LCGVKANEGT VGVSAATERS
RCNTTQGNEV TSILRWAKDA GKSVGIVTTT RVNHATPSAA YAHSADRDWY SDNEMPPEAL
SQGCKDIAYQ LMHNIRDIDV IMGGGRKYMY PKNKTDVEYE SDEKARGTRL DGLDLVDTWK
SFKPRYKHSH FIWNRTELLT LDPHNVDYLL GLFEPGDMQY ELNRNNVTDP SLSEMVVVAI
QILRKNPKGF FLLVEGGRID HGHHEGKAKQ ALHEAVEMDR AIGQAGSLTS SEDTLTVVTA
DHSHVFTFGG YTPRGNSIFG LAPMLSDTDK KPFTAILYGN GPGYKVVGGE RENVSMVDYA
HNNYQAQSAV PLRHETHGGE DVAVFSKGPM AHLLHGVHEQ NYVPHVMAYA ACIGANLGHC
APASSAGSLA AGPLLLALAL YPLSVLF*
mutated AA sequence MPWSFRSSTP TWLRMSSCSW EMTYNTNAQV PDSAGTATAY LCGVKANEGT VGVSAATERS
RCNTTQGNEV TSILRWAKDA GKSVGIVTTT RVNHATPSAA YAHSADRDWY SDNEMPPEAL
SQGCKDIAYQ LMHNIRDIDV IMGGGRKYMY PKNKTDVEYE SDEKARGTRL DGLDLVDTWK
SFKPRYKHSH FIWNRTELLT LDPHNVDYLL GLFEPGDMQY KLNRNNVTDP SLSEMVVVAI
QILRKNPKGF FLLVEGGRID HGHHEGKAKQ ALHEAVEMDR AIGQAGSLTS SEDTLTVVTA
DHSHVFTFGG YTPRGNSIFG LAPMLSDTDK KPFTAILYGN GPGYKVVGGE RENVSMVDYA
HNNYQAQSAV PLRHETHGGE DVAVFSKGPM AHLLHGVHEQ NYVPHVMAYA ACIGANLGHC
APASSAGSLA AGPLLLALAL YPLSVLF*
speed 1.28 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.998905949641069 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM940043)
  • known disease mutation: rs13669 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:21900187G>AN/A show variant in all transcripts   IGV
HGNC symbol ALPL
Ensembl transcript ID ENST00000540617
Genbank transcript ID NM_001127501
UniProt peptide P05186
alteration type single base exchange
alteration region CDS
DNA changes c.727G>A
cDNA.984G>A
g.64330G>A
AA changes E243K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 243
frameshift no
known variant Reference ID: rs121918017
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs13669 (pathogenic for Infantile hypophosphatasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940043)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940043)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940043)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1780.998
3.1111
(flanking)3.8781
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased64334wt: 0.25 / mu: 0.59wt: CGAGCTGAACAGGAA
mu: CAAGCTGAACAGGAA		 AGCT|gaac
Donor increased64326wt: 0.47 / mu: 0.96wt: ATGCAGTACGAGCTG
mu: ATGCAGTACAAGCTG		 GCAG|tacg
Donor increased64331wt: 0.83 / mu: 0.93wt: GTACGAGCTGAACAG
mu: GTACAAGCTGAACAG		 ACGA|gctg
Donor gained643250.33mu: CATGCAGTACAAGCT TGCA|gtac
distance from splice site 30
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      243LGLFEPGDMQYELNRNNVTDPSLS
mutated  all conserved    243QYKLNRNNVTDPSL
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002217  298EYELNRNNVTDPSL
Fcatus  all identical  ENSFCAG00000002960  298QYELNRNSTTDPSL
Mmusculus  all identical  ENSMUSG00000028766  298QYELNRNNLTDPSL
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000004463  298YDLERNPETDPSL
Drerio  all identical  ENSDARG00000015546  334NYELERNTENDPSL
Dmelanogaster  not conserved  FBgn0043791  330APYHMAYHLDASPAEQPTL
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
271271CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
303303CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
332332METALMagnesium (Potential).might get lost (downstream of altered splice site)
337337METALZinc 1 (Potential).might get lost (downstream of altered splice site)
341341METALZinc 1 (Potential).might get lost (downstream of altered splice site)
361361CONFLICTQ -> H (in Ref. 1; BAA32129).might get lost (downstream of altered splice site)
378378METALZinc 2 (Potential).might get lost (downstream of altered splice site)
379379METALZinc 2 (Potential).might get lost (downstream of altered splice site)
430430CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
446446CONFLICTA -> P (in Ref. 1; BAA32129).might get lost (downstream of altered splice site)
454454METALZinc 1 (Potential).might get lost (downstream of altered splice site)
502502LIPIDGPI-anchor amidated serine (Probable).might get lost (downstream of altered splice site)
503524PROPEPRemoved in mature form (Probable). /FTId=PRO_0000024024.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1410 / 1410
position (AA) of stopcodon in wt / mu AA sequence 470 / 470
position of stopcodon in wt / mu cDNA 1667 / 1667
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 258 / 258
chromosome 1
strand 1
last intron/exon boundary 1402
theoretical NMD boundary in CDS 1094
length of CDS 1410
coding sequence (CDS) position 727
cDNA position
(for ins/del: last normal base / first normal base)		 984
gDNA position
(for ins/del: last normal base / first normal base)		 64330
chromosomal position
(for ins/del: last normal base / first normal base)		 21900187
original gDNA sequence snippet AGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTG
altered gDNA sequence snippet AGCCAGGGGACATGCAGTACAAGCTGAACAGGAACAACGTG
original cDNA sequence snippet AGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTG
altered cDNA sequence snippet AGCCAGGGGACATGCAGTACAAGCTGAACAGGAACAACGTG
wildtype AA sequence MFLGDGMGVS TVTAARILKG QLHHNPGEET RLEMDKFPFV ALSKTYNTNA QVPDSAGTAT
AYLCGVKANE GTVGVSAATE RSRCNTTQGN EVTSILRWAK DAGKSVGIVT TTRVNHATPS
AAYAHSADRD WYSDNEMPPE ALSQGCKDIA YQLMHNIRDI DVIMGGGRKY MYPKNKTDVE
YESDEKARGT RLDGLDLVDT WKSFKPRYKH SHFIWNRTEL LTLDPHNVDY LLGLFEPGDM
QYELNRNNVT DPSLSEMVVV AIQILRKNPK GFFLLVEGGR IDHGHHEGKA KQALHEAVEM
DRAIGQAGSL TSSEDTLTVV TADHSHVFTF GGYTPRGNSI FGLAPMLSDT DKKPFTAILY
GNGPGYKVVG GERENVSMVD YAHNNYQAQS AVPLRHETHG GEDVAVFSKG PMAHLLHGVH
EQNYVPHVMA YAACIGANLG HCAPASSAGS LAAGPLLLAL ALYPLSVLF*
mutated AA sequence MFLGDGMGVS TVTAARILKG QLHHNPGEET RLEMDKFPFV ALSKTYNTNA QVPDSAGTAT
AYLCGVKANE GTVGVSAATE RSRCNTTQGN EVTSILRWAK DAGKSVGIVT TTRVNHATPS
AAYAHSADRD WYSDNEMPPE ALSQGCKDIA YQLMHNIRDI DVIMGGGRKY MYPKNKTDVE
YESDEKARGT RLDGLDLVDT WKSFKPRYKH SHFIWNRTEL LTLDPHNVDY LLGLFEPGDM
QYKLNRNNVT DPSLSEMVVV AIQILRKNPK GFFLLVEGGR IDHGHHEGKA KQALHEAVEM
DRAIGQAGSL TSSEDTLTVV TADHSHVFTF GGYTPRGNSI FGLAPMLSDT DKKPFTAILY
GNGPGYKVVG GERENVSMVD YAHNNYQAQS AVPLRHETHG GEDVAVFSKG PMAHLLHGVH
EQNYVPHVMA YAACIGANLG HCAPASSAGS LAAGPLLLAL ALYPLSVLF*
speed 0.96 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM940043)
  • known disease mutation: rs13669 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:21900187G>AN/A show variant in all transcripts   IGV
HGNC symbol ALPL
Ensembl transcript ID ENST00000374830
Genbank transcript ID N/A
UniProt peptide P05186
alteration type single base exchange
alteration region intron
DNA changes g.64330G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121918017
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs13669 (pathogenic for Infantile hypophosphatasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940043)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940043)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940043)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1780.998
3.1111
(flanking)3.8781
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -21) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased64334wt: 0.25 / mu: 0.59wt: CGAGCTGAACAGGAA
mu: CAAGCTGAACAGGAA		 AGCT|gaac
Donor increased64326wt: 0.47 / mu: 0.96wt: ATGCAGTACGAGCTG
mu: ATGCAGTACAAGCTG		 GCAG|tacg
Donor increased64331wt: 0.83 / mu: 0.93wt: GTACGAGCTGAACAG
mu: GTACAAGCTGAACAG		 ACGA|gctg
Donor gained643250.33mu: CATGCAGTACAAGCT TGCA|gtac
distance from splice site 2039
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
117SIGNALmight get lost (downstream of altered splice site)
2929CONFLICTW -> A (in Ref. 10; AA sequence).might get lost (downstream of altered splice site)
6060METALZinc 2 (Potential).might get lost (downstream of altered splice site)
6060METALMagnesium (Potential).might get lost (downstream of altered splice site)
104104CONFLICTN -> K (in Ref. 3; CAA32376).might get lost (downstream of altered splice site)
110110ACT_SITEPhosphoserine intermediate.might get lost (downstream of altered splice site)
140140CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
173173METALMagnesium (Potential).might get lost (downstream of altered splice site)
230230CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
271271CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
303303CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
332332METALMagnesium (Potential).might get lost (downstream of altered splice site)
337337METALZinc 1 (Potential).might get lost (downstream of altered splice site)
341341METALZinc 1 (Potential).might get lost (downstream of altered splice site)
361361CONFLICTQ -> H (in Ref. 1; BAA32129).might get lost (downstream of altered splice site)
378378METALZinc 2 (Potential).might get lost (downstream of altered splice site)
379379METALZinc 2 (Potential).might get lost (downstream of altered splice site)
430430CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
446446CONFLICTA -> P (in Ref. 1; BAA32129).might get lost (downstream of altered splice site)
454454METALZinc 1 (Potential).might get lost (downstream of altered splice site)
502502LIPIDGPI-anchor amidated serine (Probable).might get lost (downstream of altered splice site)
503524PROPEPRemoved in mature form (Probable). /FTId=PRO_0000024024.might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
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
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 138 / 138
chromosome 1
strand 1
last intron/exon boundary 385
theoretical NMD boundary in CDS 197
length of CDS 513
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 64330
chromosomal position
(for ins/del: last normal base / first normal base)		 21900187
original gDNA sequence snippet AGCCAGGGGACATGCAGTACGAGCTGAACAGGAACAACGTG
altered gDNA sequence snippet AGCCAGGGGACATGCAGTACAAGCTGAACAGGAACAACGTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MDRAIGQAGS LTSSEDTLTV VTADHSHVFT FGGYTPRGNS IFGLAPMLSD TDKKPFTAIL
YGNGPGYKVV GGERENVSMV DYAHNNYQAQ SAVPLRHETH GGEDVAVFSK GPMAHLLHGV
HEQNYVPHVM AYAACIGANL GHCAPASSAG SLAAGPLLLA LALYPLSVLF *
mutated AA sequence N/A
speed 0.69 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

Problems