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 7 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: ENST00000374829
Querying Taster for transcript #5: ENST00000425315
Querying Taster for transcript #6: ENST00000539907
Querying Taster for transcript #7: ENST00000540617
MT speed 0 s - this script 5.326774 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ALPLdisease_causing_automatic0.999847898736946simple_aaeaffected0Y436Hsingle base exchangers121918006show file
ALPLdisease_causing_automatic0.999847898736946simple_aaeaffected0Y436Hsingle base exchangers121918006show file
ALPLdisease_causing_automatic0.999847898736946simple_aaeaffected0Y82Hsingle base exchangers121918006show file
ALPLdisease_causing_automatic0.999847898736946simple_aaeaffected0Y436Hsingle base exchangers121918006show file
ALPLdisease_causing_automatic0.999847898736946simple_aaeaffected0Y82Hsingle base exchangers121918006show file
ALPLdisease_causing_automatic0.999847898736946simple_aaeaffected0Y359Hsingle base exchangers121918006show file
ALPLdisease_causing_automatic0.999847898736946simple_aaeaffected0Y381Hsingle base exchangers121918006show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999847898736946 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM920023)
  • known disease mutation: rs13668 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:21903131T>CN/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.1306T>C
cDNA.1556T>C
g.67274T>C
AA changes Y436H Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 436
frameshift no
known variant Reference ID: rs121918006
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13668 (pathogenic for Infantile hypophosphatasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM920023)

known disease mutation at this position, please check HGMD for details (HGMD ID CM920023)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920023)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.6731
4.1150.999
(flanking)1.0110.783
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost67276sequence motif lost- wt: TATG|gtga
 mu: CATG.gtga
Donor marginally increased67279wt: 0.6949 / mu: 0.7079 (marginal change - not scored)wt: TATGGTGAGACCTCC
mu: CATGGTGAGACCTCC		 TGGT|gaga
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      436GGERENVSMVDYAHNNYQAQSAVP
mutated  all conserved    436GGERENVSMVDHAHNNYQAQSAV
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002217  436GGERENVSMVDYAHNNYQAQSAV
Fcatus  all identical  ENSFCAG00000002960  436GGERENVSMVDYAHNNYQAQSAV
Mmusculus  all identical  ENSMUSG00000028766  436DGERENVSMVDYAHNNYQAQSAV
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000004463  436AIDYQENNYQAQAAV
Drerio  all identical  ENSDARG00000015546  472NGARENVSTVDYQQNNYQAQSAV
Dmelanogaster  not conserved  FBgn0043791  474AVRRKNLRAINMKNKDFMFPSTV
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
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 1306
cDNA position
(for ins/del: last normal base / first normal base)		 1556
gDNA position
(for ins/del: last normal base / first normal base)		 67274
chromosomal position
(for ins/del: last normal base / first normal base)		 21903131
original gDNA sequence snippet AGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACC
altered gDNA sequence snippet AGAATGTCTCCATGGTGGACCATGGTGAGACCTCCAGGACC
original cDNA sequence snippet AGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAG
altered cDNA sequence snippet AGAATGTCTCCATGGTGGACCATGCTCACAACAACTACCAG
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 EPGDMQYELN
RNNVTDPSLS EMVVVAIQIL RKNPKGFFLL VEGGRIDHGH HEGKAKQALH EAVEMDRAIG
QAGSLTSSED TLTVVTADHS HVFTFGGYTP RGNSIFGLAP MLSDTDKKPF TAILYGNGPG
YKVVGGEREN VSMVDHAHNN YQAQSAVPLR HETHGGEDVA VFSKGPMAHL LHGVHEQNYV
PHVMAYAACI GANLGHCAPA SSAGSLAAGP LLLALALYPL SVLF*
speed 0.82 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: 0.999847898736946 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM920023)
  • known disease mutation: rs13668 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:21903131T>CN/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.1306T>C
cDNA.1560T>C
g.67274T>C
AA changes Y436H Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 436
frameshift no
known variant Reference ID: rs121918006
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13668 (pathogenic for Infantile hypophosphatasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM920023)

known disease mutation at this position, please check HGMD for details (HGMD ID CM920023)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920023)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.6731
4.1150.999
(flanking)1.0110.783
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost67276sequence motif lost- wt: TATG|gtga
 mu: CATG.gtga
Donor marginally increased67279wt: 0.6949 / mu: 0.7079 (marginal change - not scored)wt: TATGGTGAGACCTCC
mu: CATGGTGAGACCTCC		 TGGT|gaga
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      436GGERENVSMVDYAHNNYQAQSAVP
mutated  all conserved    436GGERENVSMVDHAHNNYQAQSAV
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002217  436GGERENVSMVDYAHNNYQAQSAV
Fcatus  all identical  ENSFCAG00000002960  436GGERENVSMVDYAHNNYQAQSAV
Mmusculus  all identical  ENSMUSG00000028766  436DGERENVSMVDYAHNNYQAQSAV
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000004463  436AIDYQENNYQAQAAV
Drerio  all identical  ENSDARG00000015546  472NGARENVSTVDYQQNNYQAQSAV
Dmelanogaster  not conserved  FBgn0043791  474AVRRKNLRAINMKNKDFMFPSTV
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
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 1306
cDNA position
(for ins/del: last normal base / first normal base)		 1560
gDNA position
(for ins/del: last normal base / first normal base)		 67274
chromosomal position
(for ins/del: last normal base / first normal base)		 21903131
original gDNA sequence snippet AGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACC
altered gDNA sequence snippet AGAATGTCTCCATGGTGGACCATGGTGAGACCTCCAGGACC
original cDNA sequence snippet AGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAG
altered cDNA sequence snippet AGAATGTCTCCATGGTGGACCATGCTCACAACAACTACCAG
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 EPGDMQYELN
RNNVTDPSLS EMVVVAIQIL RKNPKGFFLL VEGGRIDHGH HEGKAKQALH EAVEMDRAIG
QAGSLTSSED TLTVVTADHS HVFTFGGYTP RGNSIFGLAP MLSDTDKKPF TAILYGNGPG
YKVVGGEREN VSMVDHAHNN YQAQSAVPLR HETHGGEDVA VFSKGPMAHL LHGVHEQNYV
PHVMAYAACI GANLGHCAPA SSAGSLAAGP LLLALALYPL SVLF*
speed 0.63 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: 0.999847898736946 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM920023)
  • known disease mutation: rs13668 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:21903131T>CN/A show variant in all transcripts   IGV
HGNC symbol ALPL
Ensembl transcript ID ENST00000374829
Genbank transcript ID N/A
UniProt peptide P05186
alteration type single base exchange
alteration region CDS
DNA changes c.244T>C
cDNA.575T>C
g.67274T>C
AA changes Y82H Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 82
frameshift no
known variant Reference ID: rs121918006
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13668 (pathogenic for Infantile hypophosphatasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM920023)

known disease mutation at this position, please check HGMD for details (HGMD ID CM920023)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920023)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.6731
4.1150.999
(flanking)1.0110.783
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost67276sequence motif lost- wt: TATG|gtga
 mu: CATG.gtga
Donor marginally increased67279wt: 0.6949 / mu: 0.7079 (marginal change - not scored)wt: TATGGTGAGACCTCC
mu: CATGGTGAGACCTCC		 TGGT|gaga
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      82GGERENVSMVDYAHNNYQAQSAVP
mutated  all conserved    82GGERENVSMVDHAHNNYQAQSAV
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002217  436GGERENVSMVDYAHNNYQAQSAV
Fcatus  all identical  ENSFCAG00000002960  436GGERENVSMVDYAHNNYQAQSAV
Mmusculus  all identical  ENSMUSG00000028766  436DGERENVSMVDYAHNNYQAQSAV
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000004463  436NGGRENVSAIDYQENNYQAQAAV
Drerio  all identical  ENSDARG00000015546  472NGARENVSTVDYQQNNYQAQSAV
Dmelanogaster  not conserved  FBgn0043791  470GGAVRRKNLRAINMKNKDFMFPSTV
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
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 normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 513 / 513
position (AA) of stopcodon in wt / mu AA sequence 171 / 171
position of stopcodon in wt / mu cDNA 844 / 844
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 332 / 332
chromosome 1
strand 1
last intron/exon boundary 579
theoretical NMD boundary in CDS 197
length of CDS 513
coding sequence (CDS) position 244
cDNA position
(for ins/del: last normal base / first normal base)		 575
gDNA position
(for ins/del: last normal base / first normal base)		 67274
chromosomal position
(for ins/del: last normal base / first normal base)		 21903131
original gDNA sequence snippet AGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACC
altered gDNA sequence snippet AGAATGTCTCCATGGTGGACCATGGTGAGACCTCCAGGACC
original cDNA sequence snippet AGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAG
altered cDNA sequence snippet AGAATGTCTCCATGGTGGACCATGCTCACAACAACTACCAG
wildtype AA sequence MDRAIGQAGS LTSSEDTLTV VTADHSHVFT FGGYTPRGNS IFGLAPMLSD TDKKPFTAIL
YGNGPGYKVV GGERENVSMV DYAHNNYQAQ SAVPLRHETH GGEDVAVFSK GPMAHLLHGV
HEQNYVPHVM AYAACIGANL GHCAPASSAG SLAAGPLLLA LALYPLSVLF *
mutated AA sequence MDRAIGQAGS LTSSEDTLTV VTADHSHVFT FGGYTPRGNS IFGLAPMLSD TDKKPFTAIL
YGNGPGYKVV GGERENVSMV DHAHNNYQAQ SAVPLRHETH GGEDVAVFSK GPMAHLLHGV
HEQNYVPHVM AYAACIGANL GHCAPASSAG SLAAGPLLLA LALYPLSVLF *
speed 0.66 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: 0.999847898736946 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM920023)
  • known disease mutation: rs13668 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:21903131T>CN/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.1306T>C
cDNA.1306T>C
g.67274T>C
AA changes Y436H Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 436
frameshift no
known variant Reference ID: rs121918006
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13668 (pathogenic for Infantile hypophosphatasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM920023)

known disease mutation at this position, please check HGMD for details (HGMD ID CM920023)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920023)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.6731
4.1150.999
(flanking)1.0110.783
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost67276sequence motif lost- wt: TATG|gtga
 mu: CATG.gtga
Donor marginally increased67279wt: 0.6949 / mu: 0.7079 (marginal change - not scored)wt: TATGGTGAGACCTCC
mu: CATGGTGAGACCTCC		 TGGT|gaga
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      436GGERENVSMVDYAHNNYQAQSAVP
mutated  all conserved    436GGERENVSMVDHAHNNYQAQSAV
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002217  436GGERENVSMVDYAHNNYQAQSAV
Fcatus  all identical  ENSFCAG00000002960  436GGERENVSMVDYAHNNYQAQSAV
Mmusculus  all identical  ENSMUSG00000028766  436DGERENVSMVDYAHNNYQAQSAV
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000004463  436AIDYQENNYQAQAAV
Drerio  all identical  ENSDARG00000015546  472NGARENVSTVDYQQNNYQAQSAV
Dmelanogaster  not conserved  FBgn0043791  474AVRRKNLRAINMKNKDFMFPSTV
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
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 1306
cDNA position
(for ins/del: last normal base / first normal base)		 1306
gDNA position
(for ins/del: last normal base / first normal base)		 67274
chromosomal position
(for ins/del: last normal base / first normal base)		 21903131
original gDNA sequence snippet AGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACC
altered gDNA sequence snippet AGAATGTCTCCATGGTGGACCATGGTGAGACCTCCAGGACC
original cDNA sequence snippet AGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAG
altered cDNA sequence snippet AGAATGTCTCCATGGTGGACCATGCTCACAACAACTACCAG
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 EPGDMQYELN
RNNVTDPSLS EMVVVAIQIL RKNPKGFFLL VEGGRIDHGH HEGKAKQALH EAVEMDRAIG
QAGSLTSSED TLTVVTADHS HVFTFGGYTP RGNSIFGLAP MLSDTDKKPF TAILYGNGPG
YKVVGGEREN VSMVDHAHNN YQAQSAVPLR HETHGGEDVA VFSKGPMAHL LHGVHEQNYV
PHVMAYAACI GANLGHCAPA SSAGSLAAGP LLLALALYPL SVLF*
speed 0.67 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: 0.999847898736946 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM920023)
  • known disease mutation: rs13668 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:21903131T>CN/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 CDS
DNA changes c.244T>C
cDNA.381T>C
g.67274T>C
AA changes Y82H Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 82
frameshift no
known variant Reference ID: rs121918006
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13668 (pathogenic for Infantile hypophosphatasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM920023)

known disease mutation at this position, please check HGMD for details (HGMD ID CM920023)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920023)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.6731
4.1150.999
(flanking)1.0110.783
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost67276sequence motif lost- wt: TATG|gtga
 mu: CATG.gtga
Donor marginally increased67279wt: 0.6949 / mu: 0.7079 (marginal change - not scored)wt: TATGGTGAGACCTCC
mu: CATGGTGAGACCTCC		 TGGT|gaga
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      82GGERENVSMVDYAHNNYQAQSAVP
mutated  all conserved    82GGERENVSMVDHAHNNYQAQSAV
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002217  436GGERENVSMVDYAHNNYQAQSAV
Fcatus  all identical  ENSFCAG00000002960  436GGERENVSMVDYAHNNYQAQSAV
Mmusculus  all identical  ENSMUSG00000028766  436DGERENVSMVDYAHNNYQAQSAV
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000004463  436NGGRENVSAIDYQENNYQAQAAV
Drerio  all identical  ENSDARG00000015546  472NGARENVSTVDYQQNNYQAQSAV
Dmelanogaster  not conserved  FBgn0043791  470GGAVRRKNLRAINMKNKDFMFPSTV
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
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 normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 513 / 513
position (AA) of stopcodon in wt / mu AA sequence 171 / 171
position of stopcodon in wt / mu cDNA 650 / 650
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 244
cDNA position
(for ins/del: last normal base / first normal base)		 381
gDNA position
(for ins/del: last normal base / first normal base)		 67274
chromosomal position
(for ins/del: last normal base / first normal base)		 21903131
original gDNA sequence snippet AGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACC
altered gDNA sequence snippet AGAATGTCTCCATGGTGGACCATGGTGAGACCTCCAGGACC
original cDNA sequence snippet AGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAG
altered cDNA sequence snippet AGAATGTCTCCATGGTGGACCATGCTCACAACAACTACCAG
wildtype AA sequence MDRAIGQAGS LTSSEDTLTV VTADHSHVFT FGGYTPRGNS IFGLAPMLSD TDKKPFTAIL
YGNGPGYKVV GGERENVSMV DYAHNNYQAQ SAVPLRHETH GGEDVAVFSK GPMAHLLHGV
HEQNYVPHVM AYAACIGANL GHCAPASSAG SLAAGPLLLA LALYPLSVLF *
mutated AA sequence MDRAIGQAGS LTSSEDTLTV VTADHSHVFT FGGYTPRGNS IFGLAPMLSD TDKKPFTAIL
YGNGPGYKVV GGERENVSMV DHAHNNYQAQ SAVPLRHETH GGEDVAVFSK GPMAHLLHGV
HEQNYVPHVM AYAACIGANL GHCAPASSAG SLAAGPLLLA LALYPLSVLF *
speed 0.87 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: 0.999847898736946 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM920023)
  • known disease mutation: rs13668 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:21903131T>CN/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.1075T>C
cDNA.1282T>C
g.67274T>C
AA changes Y359H Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 359
frameshift no
known variant Reference ID: rs121918006
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13668 (pathogenic for Infantile hypophosphatasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM920023)

known disease mutation at this position, please check HGMD for details (HGMD ID CM920023)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920023)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.6731
4.1150.999
(flanking)1.0110.783
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost67276sequence motif lost- wt: TATG|gtga
 mu: CATG.gtga
Donor marginally increased67279wt: 0.6949 / mu: 0.7079 (marginal change - not scored)wt: TATGGTGAGACCTCC
mu: CATGGTGAGACCTCC		 TGGT|gaga
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      359GGERENVSMVDYAHNNYQAQSAVP
mutated  all conserved    359GGERENVSMVDHAHNNYQAQSAV
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002217  436GGERENVSMVDYAHNNYQAQSAV
Fcatus  all identical  ENSFCAG00000002960  436GGERENVSMVDYAHNNYQAQSAV
Mmusculus  all identical  ENSMUSG00000028766  436DGERENVSMVDYAHNNYQAQSAV
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000004463  436NGGRENVSAIDYQENNYQAQAAV
Drerio  all identical  ENSDARG00000015546  472NGARENVSTVDYQQNNYQAQSAV
Dmelanogaster  not conserved  FBgn0043791  470GGAVRRKNLRAINMKNKDFMFPST
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
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 1075
cDNA position
(for ins/del: last normal base / first normal base)		 1282
gDNA position
(for ins/del: last normal base / first normal base)		 67274
chromosomal position
(for ins/del: last normal base / first normal base)		 21903131
original gDNA sequence snippet AGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACC
altered gDNA sequence snippet AGAATGTCTCCATGGTGGACCATGGTGAGACCTCCAGGACC
original cDNA sequence snippet AGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAG
altered cDNA sequence snippet AGAATGTCTCCATGGTGGACCATGCTCACAACAACTACCAG
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 ELNRNNVTDP SLSEMVVVAI
QILRKNPKGF FLLVEGGRID HGHHEGKAKQ ALHEAVEMDR AIGQAGSLTS SEDTLTVVTA
DHSHVFTFGG YTPRGNSIFG LAPMLSDTDK KPFTAILYGN GPGYKVVGGE RENVSMVDHA
HNNYQAQSAV PLRHETHGGE DVAVFSKGPM AHLLHGVHEQ NYVPHVMAYA ACIGANLGHC
APASSAGSLA AGPLLLALAL YPLSVLF*
speed 0.82 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: 0.999847898736946 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM920023)
  • known disease mutation: rs13668 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:21903131T>CN/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.1141T>C
cDNA.1398T>C
g.67274T>C
AA changes Y381H Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 381
frameshift no
known variant Reference ID: rs121918006
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13668 (pathogenic for Infantile hypophosphatasia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM920023)

known disease mutation at this position, please check HGMD for details (HGMD ID CM920023)
known disease mutation at this position, please check HGMD for details (HGMD ID CM920023)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.6731
4.1150.999
(flanking)1.0110.783
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost67276sequence motif lost- wt: TATG|gtga
 mu: CATG.gtga
Donor marginally increased67279wt: 0.6949 / mu: 0.7079 (marginal change - not scored)wt: TATGGTGAGACCTCC
mu: CATGGTGAGACCTCC		 TGGT|gaga
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      381GGERENVSMVDYAHNNYQAQSAVP
mutated  all conserved    381GGERENVSMVDHAHNNYQAQSAV
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002217  436GGERENVSMVDYAHNNYQAQSAV
Fcatus  all identical  ENSFCAG00000002960  436GGERENVSMVDYAHNNYQAQSAV
Mmusculus  all identical  ENSMUSG00000028766  436DGERENVSMVDYAHNNYQAQSAV
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000004463  436NGGRENVSAIDYQENNYQAQAAV
Drerio  all identical  ENSDARG00000015546  472NGARENVSTVDYQQNNYQAQSAV
Dmelanogaster  not conserved  FBgn0043791  470GGAVRRKNLRAINMKNKDFMFPSTV
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
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 1141
cDNA position
(for ins/del: last normal base / first normal base)		 1398
gDNA position
(for ins/del: last normal base / first normal base)		 67274
chromosomal position
(for ins/del: last normal base / first normal base)		 21903131
original gDNA sequence snippet AGAATGTCTCCATGGTGGACTATGGTGAGACCTCCAGGACC
altered gDNA sequence snippet AGAATGTCTCCATGGTGGACCATGGTGAGACCTCCAGGACC
original cDNA sequence snippet AGAATGTCTCCATGGTGGACTATGCTCACAACAACTACCAG
altered cDNA sequence snippet AGAATGTCTCCATGGTGGACCATGCTCACAACAACTACCAG
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
QYELNRNNVT DPSLSEMVVV AIQILRKNPK GFFLLVEGGR IDHGHHEGKA KQALHEAVEM
DRAIGQAGSL TSSEDTLTVV TADHSHVFTF GGYTPRGNSI FGLAPMLSDT DKKPFTAILY
GNGPGYKVVG GERENVSMVD HAHNNYQAQS AVPLRHETHG GEDVAVFSKG PMAHLLHGVH
EQNYVPHVMA YAACIGANLG HCAPASSAGS LAAGPLLLAL ALYPLSVLF*
speed 0.78 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

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