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: ENST00000361915
Querying Taster for transcript #2: ENST00000370165
Querying Taster for transcript #3: ENST00000370163
Querying Taster for transcript #4: ENST00000294724
Querying Taster for transcript #5: ENST00000361302
Querying Taster for transcript #6: ENST00000361522
Querying Taster for transcript #7: ENST00000370161
MT speed 0 s - this script 7.580036 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
AGLdisease_causing_automatic0.999999999979914simple_aaeaffected0G1448Rsingle base exchangers118203964show file
AGLdisease_causing_automatic0.999999999979914simple_aaeaffected0G1448Rsingle base exchangers118203964show file
AGLdisease_causing_automatic0.999999999979914simple_aaeaffected0G1448Rsingle base exchangers118203964show file
AGLdisease_causing_automatic0.999999999979914simple_aaeaffected0G1448Rsingle base exchangers118203964show file
AGLdisease_causing_automatic0.999999999979914simple_aaeaffected0G1432Rsingle base exchangers118203964show file
AGLdisease_causing_automatic0.999999999979914simple_aaeaffected0G1432Rsingle base exchangers118203964show file
AGLdisease_causing_automatic0.999999999979914simple_aaeaffected0G1431Rsingle base exchangers118203964show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999979914 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM993300)
  • known disease mutation: rs1102 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:100382048G>CN/A show variant in all transcripts   IGV
HGNC symbol AGL
Ensembl transcript ID ENST00000361915
Genbank transcript ID NM_000642
UniProt peptide P35573
alteration type single base exchange
alteration region CDS
DNA changes c.4342G>C
cDNA.4742G>C
g.66409G>C
AA changes G1448R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1448
frameshift no
known variant Reference ID: rs118203964
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs1102 (pathogenic for Glycogen storage disease IIIa) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)

known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)
known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.3791
5.861
(flanking)5.861
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased66404wt: 0.80 / mu: 0.97wt: TTATCACCAAGGACC
mu: TTATCACCAACGACC		 ATCA|ccaa
Donor increased66407wt: 0.38 / mu: 0.47wt: TCACCAAGGACCTGT
mu: TCACCAACGACCTGT		 ACCA|agga
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1448YNLAKGFNYHQGPEWLWPIGYFLR
mutated  not conserved    1448KGFNYHQRPEWLWPIGYFL
Ptroglodytes  all identical  ENSPTRG00000000997  1448KGFNYHQGPEWLWPIGYFL
Mmulatta  all identical  ENSMMUG00000021441  1449AKGFNYHQGPEWLWPIGYFL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033400  1448RGFNYHQGPEWLWPIGYFL
Ggallus  all identical  ENSGALG00000005407  1447RGFNYHQGPEWLWPIGYFL
Trubripes  all identical  ENSTRUG00000012741  1448RGFNYHQGPEWLWPVGYFL
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0034618  1539CTVAHGANYHQGPEWVWPIGFYL
Celegans  all identical  R06A4.8  1378KKTAKGWNYHQGPEWLFVAGYYL
Xtropicalis  all identical  ENSXETG00000013185  1448SKGFNYHQGPEWMWPIGYFL
protein features
start (aa)end (aa)featuredetails 
15321532REGIONAmylo-1,6-glucosidase. - EXACT POSITION UNKNOWNmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4599 / 4599
position (AA) of stopcodon in wt / mu AA sequence 1533 / 1533
position of stopcodon in wt / mu cDNA 4999 / 4999
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 401 / 401
chromosome 1
strand 1
last intron/exon boundary 4882
theoretical NMD boundary in CDS 4431
length of CDS 4599
coding sequence (CDS) position 4342
cDNA position
(for ins/del: last normal base / first normal base)		 4742
gDNA position
(for ins/del: last normal base / first normal base)		 66409
chromosomal position
(for ins/del: last normal base / first normal base)		 100382048
original gDNA sequence snippet AAGGTTTCAATTATCACCAAGGACCTGTAAGAATTTCATTT
altered gDNA sequence snippet AAGGTTTCAATTATCACCAACGACCTGTAAGAATTTCATTT
original cDNA sequence snippet AAGGTTTCAATTATCACCAAGGACCTGAGTGGCTGTGGCCT
altered cDNA sequence snippet AAGGTTTCAATTATCACCAACGACCTGAGTGGCTGTGGCCT
wildtype AA sequence MGHSKQIRIL LLNEMEKLEK TLFRLEQGYE LQFRLGPTLQ GKAVTVYTNY PFPGETFNRE
KFRSLDWENP TEREDDSDKY CKLNLQQSGS FQYYFLQGNE KSGGGYIVVD PILRVGADNH
VLPLDCVTLQ TFLAKCLGPF DEWESRLRVA KESGYNMIHF TPLQTLGLSR SCYSLANQLE
LNPDFSRPNR KYTWNDVGQL VEKLKKEWNV ICITDVVYNH TAANSKWIQE HPECAYNLVN
SPHLKPAWVL DRALWRFSCD VAEGKYKEKG IPALIENDHH MNSIRKIIWE DIFPKLKLWE
FFQVDVNKAV EQFRRLLTQE NRRVTKSDPN QHLTIIQDPE YRRFGCTVDM NIALTTFIPH
DKGPAAIEEC CNWFHKRMEE LNSEKHRLIN YHQEQAVNCL LGNVFYERLA GHGPKLGPVT
RKHPLVTRYF TFPFEEIDFS MEESMIHLPN KACFLMAHNG WVMGDDPLRN FAEPGSEVYL
RRELICWGDS VKLRYGNKPE DCPYLWAHMK KYTEITATYF QGVRLDNCHS TPLHVAEYML
DAARNLQPNL YVVAELFTGS EDLDNVFVTR LGISSLIREA MSAYNSHEEG RLVYRYGGEP
VGSFVQPCLR PLMPAIAHAL FMDITHDNEC PIVHRSAYDA LPSTTIVSMA CCASGSTRGY
DELVPHQISV VSEERFYTKW NPEALPSNTG EVNFQSGIIA ARCAISKLHQ ELGAKGFIQV
YVDQVDEDIV AVTRHSPSIH QSVVAVSRTA FRNPKTSFYS KEVPQMCIPG KIEEVVLEAR
TIERNTKPYR KDENSINGTP DITVEIREHI QLNESKIVKQ AGVATKGPNE YIQEIEFENL
SPGSVIIFRV SLDPHAQVAV GILRNHLTQF SPHFKSGSLA VDNADPILKI PFASLASRLT
LAELNQILYR CESEEKEDGG GCYDIPNWSA LKYAGLQGLM SVLAEIRPKN DLGHPFCNNL
RSGDWMIDYV SNRLISRSGT IAEVGKWLQA MFFYLKQIPR YLIPCYFDAI LIGAYTTLLD
TAWKQMSSFV QNGSTFVKHL SLGSVQLCGV GKFPSLPILS PALMDVPYRL NEITKEKEQC
CVSLAAGLPH FSSGIFRCWG RDTFIALRGI LLITGRYVEA RNIILAFAGT LRHGLIPNLL
GEGIYARYNC RDAVWWWLQC IQDYCKMVPN GLDILKCPVS RMYPTDDSAP LPAGTLDQPL
FEVIQEAMQK HMQGIQFRER NAGPQIDRNM KDEGFNITAG VDEETGFVYG GNRFNCGTWM
DKMGESDRAR NRGIPATPRD GSAVEIVGLS KSAVRWLLEL SKKNIFPYHE VTVKRHGKAI
KVSYDEWNRK IQDNFEKLFH VSEDPSDLNE KHPNLVHKRG IYKDSYGASS PWCDYQLRPN
FTIAMVVAPE LFTTEKAWKA LEIAEKKLLG PLGMKTLDPD DMVYCGIYDN ALDNDNYNLA
KGFNYHQGPE WLWPIGYFLR AKLYFSRLMG PETTAKTIVL VKNVLSRHYV HLERSPWKGL
PELTNENAQY CPFSCETQAW SIATILETLY DL*
mutated AA sequence MGHSKQIRIL LLNEMEKLEK TLFRLEQGYE LQFRLGPTLQ GKAVTVYTNY PFPGETFNRE
KFRSLDWENP TEREDDSDKY CKLNLQQSGS FQYYFLQGNE KSGGGYIVVD PILRVGADNH
VLPLDCVTLQ TFLAKCLGPF DEWESRLRVA KESGYNMIHF TPLQTLGLSR SCYSLANQLE
LNPDFSRPNR KYTWNDVGQL VEKLKKEWNV ICITDVVYNH TAANSKWIQE HPECAYNLVN
SPHLKPAWVL DRALWRFSCD VAEGKYKEKG IPALIENDHH MNSIRKIIWE DIFPKLKLWE
FFQVDVNKAV EQFRRLLTQE NRRVTKSDPN QHLTIIQDPE YRRFGCTVDM NIALTTFIPH
DKGPAAIEEC CNWFHKRMEE LNSEKHRLIN YHQEQAVNCL LGNVFYERLA GHGPKLGPVT
RKHPLVTRYF TFPFEEIDFS MEESMIHLPN KACFLMAHNG WVMGDDPLRN FAEPGSEVYL
RRELICWGDS VKLRYGNKPE DCPYLWAHMK KYTEITATYF QGVRLDNCHS TPLHVAEYML
DAARNLQPNL YVVAELFTGS EDLDNVFVTR LGISSLIREA MSAYNSHEEG RLVYRYGGEP
VGSFVQPCLR PLMPAIAHAL FMDITHDNEC PIVHRSAYDA LPSTTIVSMA CCASGSTRGY
DELVPHQISV VSEERFYTKW NPEALPSNTG EVNFQSGIIA ARCAISKLHQ ELGAKGFIQV
YVDQVDEDIV AVTRHSPSIH QSVVAVSRTA FRNPKTSFYS KEVPQMCIPG KIEEVVLEAR
TIERNTKPYR KDENSINGTP DITVEIREHI QLNESKIVKQ AGVATKGPNE YIQEIEFENL
SPGSVIIFRV SLDPHAQVAV GILRNHLTQF SPHFKSGSLA VDNADPILKI PFASLASRLT
LAELNQILYR CESEEKEDGG GCYDIPNWSA LKYAGLQGLM SVLAEIRPKN DLGHPFCNNL
RSGDWMIDYV SNRLISRSGT IAEVGKWLQA MFFYLKQIPR YLIPCYFDAI LIGAYTTLLD
TAWKQMSSFV QNGSTFVKHL SLGSVQLCGV GKFPSLPILS PALMDVPYRL NEITKEKEQC
CVSLAAGLPH FSSGIFRCWG RDTFIALRGI LLITGRYVEA RNIILAFAGT LRHGLIPNLL
GEGIYARYNC RDAVWWWLQC IQDYCKMVPN GLDILKCPVS RMYPTDDSAP LPAGTLDQPL
FEVIQEAMQK HMQGIQFRER NAGPQIDRNM KDEGFNITAG VDEETGFVYG GNRFNCGTWM
DKMGESDRAR NRGIPATPRD GSAVEIVGLS KSAVRWLLEL SKKNIFPYHE VTVKRHGKAI
KVSYDEWNRK IQDNFEKLFH VSEDPSDLNE KHPNLVHKRG IYKDSYGASS PWCDYQLRPN
FTIAMVVAPE LFTTEKAWKA LEIAEKKLLG PLGMKTLDPD DMVYCGIYDN ALDNDNYNLA
KGFNYHQRPE WLWPIGYFLR AKLYFSRLMG PETTAKTIVL VKNVLSRHYV HLERSPWKGL
PELTNENAQY CPFSCETQAW SIATILETLY DL*
speed 1.09 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: 0.999999999979914 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM993300)
  • known disease mutation: rs1102 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:100382048G>CN/A show variant in all transcripts   IGV
HGNC symbol AGL
Ensembl transcript ID ENST00000370165
Genbank transcript ID NM_000644
UniProt peptide P35573
alteration type single base exchange
alteration region CDS
DNA changes c.4342G>C
cDNA.4480G>C
g.66409G>C
AA changes G1448R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1448
frameshift no
known variant Reference ID: rs118203964
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs1102 (pathogenic for Glycogen storage disease IIIa) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)

known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)
known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.3791
5.861
(flanking)5.861
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased66404wt: 0.80 / mu: 0.97wt: TTATCACCAAGGACC
mu: TTATCACCAACGACC		 ATCA|ccaa
Donor increased66407wt: 0.38 / mu: 0.47wt: TCACCAAGGACCTGT
mu: TCACCAACGACCTGT		 ACCA|agga
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1448YNLAKGFNYHQGPEWLWPIGYFLR
mutated  not conserved    1448KGFNYHQRPEWLWPIGYFL
Ptroglodytes  all identical  ENSPTRG00000000997  1448KGFNYHQGPEWLWPIGYFL
Mmulatta  all identical  ENSMMUG00000021441  1449AKGFNYHQGPEWLWPIGYFL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033400  1448RGFNYHQGPEWLWPIGYFL
Ggallus  all identical  ENSGALG00000005407  1447RGFNYHQGPEWLWPIGYFL
Trubripes  all identical  ENSTRUG00000012741  1448RGFNYHQGPEWLWPVGYFL
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0034618  1539CTVAHGANYHQGPEWVWPIGFYL
Celegans  all identical  R06A4.8  1378KKTAKGWNYHQGPEWLFVAGYYL
Xtropicalis  all identical  ENSXETG00000013185  1448SKGFNYHQGPEWMWPIGYFL
protein features
start (aa)end (aa)featuredetails 
15321532REGIONAmylo-1,6-glucosidase. - EXACT POSITION UNKNOWNmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4599 / 4599
position (AA) of stopcodon in wt / mu AA sequence 1533 / 1533
position of stopcodon in wt / mu cDNA 4737 / 4737
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 139 / 139
chromosome 1
strand 1
last intron/exon boundary 4620
theoretical NMD boundary in CDS 4431
length of CDS 4599
coding sequence (CDS) position 4342
cDNA position
(for ins/del: last normal base / first normal base)		 4480
gDNA position
(for ins/del: last normal base / first normal base)		 66409
chromosomal position
(for ins/del: last normal base / first normal base)		 100382048
original gDNA sequence snippet AAGGTTTCAATTATCACCAAGGACCTGTAAGAATTTCATTT
altered gDNA sequence snippet AAGGTTTCAATTATCACCAACGACCTGTAAGAATTTCATTT
original cDNA sequence snippet AAGGTTTCAATTATCACCAAGGACCTGAGTGGCTGTGGCCT
altered cDNA sequence snippet AAGGTTTCAATTATCACCAACGACCTGAGTGGCTGTGGCCT
wildtype AA sequence MGHSKQIRIL LLNEMEKLEK TLFRLEQGYE LQFRLGPTLQ GKAVTVYTNY PFPGETFNRE
KFRSLDWENP TEREDDSDKY CKLNLQQSGS FQYYFLQGNE KSGGGYIVVD PILRVGADNH
VLPLDCVTLQ TFLAKCLGPF DEWESRLRVA KESGYNMIHF TPLQTLGLSR SCYSLANQLE
LNPDFSRPNR KYTWNDVGQL VEKLKKEWNV ICITDVVYNH TAANSKWIQE HPECAYNLVN
SPHLKPAWVL DRALWRFSCD VAEGKYKEKG IPALIENDHH MNSIRKIIWE DIFPKLKLWE
FFQVDVNKAV EQFRRLLTQE NRRVTKSDPN QHLTIIQDPE YRRFGCTVDM NIALTTFIPH
DKGPAAIEEC CNWFHKRMEE LNSEKHRLIN YHQEQAVNCL LGNVFYERLA GHGPKLGPVT
RKHPLVTRYF TFPFEEIDFS MEESMIHLPN KACFLMAHNG WVMGDDPLRN FAEPGSEVYL
RRELICWGDS VKLRYGNKPE DCPYLWAHMK KYTEITATYF QGVRLDNCHS TPLHVAEYML
DAARNLQPNL YVVAELFTGS EDLDNVFVTR LGISSLIREA MSAYNSHEEG RLVYRYGGEP
VGSFVQPCLR PLMPAIAHAL FMDITHDNEC PIVHRSAYDA LPSTTIVSMA CCASGSTRGY
DELVPHQISV VSEERFYTKW NPEALPSNTG EVNFQSGIIA ARCAISKLHQ ELGAKGFIQV
YVDQVDEDIV AVTRHSPSIH QSVVAVSRTA FRNPKTSFYS KEVPQMCIPG KIEEVVLEAR
TIERNTKPYR KDENSINGTP DITVEIREHI QLNESKIVKQ AGVATKGPNE YIQEIEFENL
SPGSVIIFRV SLDPHAQVAV GILRNHLTQF SPHFKSGSLA VDNADPILKI PFASLASRLT
LAELNQILYR CESEEKEDGG GCYDIPNWSA LKYAGLQGLM SVLAEIRPKN DLGHPFCNNL
RSGDWMIDYV SNRLISRSGT IAEVGKWLQA MFFYLKQIPR YLIPCYFDAI LIGAYTTLLD
TAWKQMSSFV QNGSTFVKHL SLGSVQLCGV GKFPSLPILS PALMDVPYRL NEITKEKEQC
CVSLAAGLPH FSSGIFRCWG RDTFIALRGI LLITGRYVEA RNIILAFAGT LRHGLIPNLL
GEGIYARYNC RDAVWWWLQC IQDYCKMVPN GLDILKCPVS RMYPTDDSAP LPAGTLDQPL
FEVIQEAMQK HMQGIQFRER NAGPQIDRNM KDEGFNITAG VDEETGFVYG GNRFNCGTWM
DKMGESDRAR NRGIPATPRD GSAVEIVGLS KSAVRWLLEL SKKNIFPYHE VTVKRHGKAI
KVSYDEWNRK IQDNFEKLFH VSEDPSDLNE KHPNLVHKRG IYKDSYGASS PWCDYQLRPN
FTIAMVVAPE LFTTEKAWKA LEIAEKKLLG PLGMKTLDPD DMVYCGIYDN ALDNDNYNLA
KGFNYHQGPE WLWPIGYFLR AKLYFSRLMG PETTAKTIVL VKNVLSRHYV HLERSPWKGL
PELTNENAQY CPFSCETQAW SIATILETLY DL*
mutated AA sequence MGHSKQIRIL LLNEMEKLEK TLFRLEQGYE LQFRLGPTLQ GKAVTVYTNY PFPGETFNRE
KFRSLDWENP TEREDDSDKY CKLNLQQSGS FQYYFLQGNE KSGGGYIVVD PILRVGADNH
VLPLDCVTLQ TFLAKCLGPF DEWESRLRVA KESGYNMIHF TPLQTLGLSR SCYSLANQLE
LNPDFSRPNR KYTWNDVGQL VEKLKKEWNV ICITDVVYNH TAANSKWIQE HPECAYNLVN
SPHLKPAWVL DRALWRFSCD VAEGKYKEKG IPALIENDHH MNSIRKIIWE DIFPKLKLWE
FFQVDVNKAV EQFRRLLTQE NRRVTKSDPN QHLTIIQDPE YRRFGCTVDM NIALTTFIPH
DKGPAAIEEC CNWFHKRMEE LNSEKHRLIN YHQEQAVNCL LGNVFYERLA GHGPKLGPVT
RKHPLVTRYF TFPFEEIDFS MEESMIHLPN KACFLMAHNG WVMGDDPLRN FAEPGSEVYL
RRELICWGDS VKLRYGNKPE DCPYLWAHMK KYTEITATYF QGVRLDNCHS TPLHVAEYML
DAARNLQPNL YVVAELFTGS EDLDNVFVTR LGISSLIREA MSAYNSHEEG RLVYRYGGEP
VGSFVQPCLR PLMPAIAHAL FMDITHDNEC PIVHRSAYDA LPSTTIVSMA CCASGSTRGY
DELVPHQISV VSEERFYTKW NPEALPSNTG EVNFQSGIIA ARCAISKLHQ ELGAKGFIQV
YVDQVDEDIV AVTRHSPSIH QSVVAVSRTA FRNPKTSFYS KEVPQMCIPG KIEEVVLEAR
TIERNTKPYR KDENSINGTP DITVEIREHI QLNESKIVKQ AGVATKGPNE YIQEIEFENL
SPGSVIIFRV SLDPHAQVAV GILRNHLTQF SPHFKSGSLA VDNADPILKI PFASLASRLT
LAELNQILYR CESEEKEDGG GCYDIPNWSA LKYAGLQGLM SVLAEIRPKN DLGHPFCNNL
RSGDWMIDYV SNRLISRSGT IAEVGKWLQA MFFYLKQIPR YLIPCYFDAI LIGAYTTLLD
TAWKQMSSFV QNGSTFVKHL SLGSVQLCGV GKFPSLPILS PALMDVPYRL NEITKEKEQC
CVSLAAGLPH FSSGIFRCWG RDTFIALRGI LLITGRYVEA RNIILAFAGT LRHGLIPNLL
GEGIYARYNC RDAVWWWLQC IQDYCKMVPN GLDILKCPVS RMYPTDDSAP LPAGTLDQPL
FEVIQEAMQK HMQGIQFRER NAGPQIDRNM KDEGFNITAG VDEETGFVYG GNRFNCGTWM
DKMGESDRAR NRGIPATPRD GSAVEIVGLS KSAVRWLLEL SKKNIFPYHE VTVKRHGKAI
KVSYDEWNRK IQDNFEKLFH VSEDPSDLNE KHPNLVHKRG IYKDSYGASS PWCDYQLRPN
FTIAMVVAPE LFTTEKAWKA LEIAEKKLLG PLGMKTLDPD DMVYCGIYDN ALDNDNYNLA
KGFNYHQRPE WLWPIGYFLR AKLYFSRLMG PETTAKTIVL VKNVLSRHYV HLERSPWKGL
PELTNENAQY CPFSCETQAW SIATILETLY DL*
speed 1.04 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: 0.999999999979914 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM993300)
  • known disease mutation: rs1102 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:100382048G>CN/A show variant in all transcripts   IGV
HGNC symbol AGL
Ensembl transcript ID ENST00000370163
Genbank transcript ID NM_000643
UniProt peptide P35573
alteration type single base exchange
alteration region CDS
DNA changes c.4342G>C
cDNA.4540G>C
g.66409G>C
AA changes G1448R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1448
frameshift no
known variant Reference ID: rs118203964
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs1102 (pathogenic for Glycogen storage disease IIIa) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)

known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)
known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.3791
5.861
(flanking)5.861
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased66404wt: 0.80 / mu: 0.97wt: TTATCACCAAGGACC
mu: TTATCACCAACGACC		 ATCA|ccaa
Donor increased66407wt: 0.38 / mu: 0.47wt: TCACCAAGGACCTGT
mu: TCACCAACGACCTGT		 ACCA|agga
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1448YNLAKGFNYHQGPEWLWPIGYFLR
mutated  not conserved    1448KGFNYHQRPEWLWPIGYFL
Ptroglodytes  all identical  ENSPTRG00000000997  1448KGFNYHQGPEWLWPIGYFL
Mmulatta  all identical  ENSMMUG00000021441  1449AKGFNYHQGPEWLWPIGYFL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033400  1448RGFNYHQGPEWLWPIGYFL
Ggallus  all identical  ENSGALG00000005407  1447RGFNYHQGPEWLWPIGYFL
Trubripes  all identical  ENSTRUG00000012741  1448RGFNYHQGPEWLWPVGYFL
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0034618  1539CTVAHGANYHQGPEWVWPIGFYL
Celegans  all identical  R06A4.8  1378KKTAKGWNYHQGPEWLFVAGYYL
Xtropicalis  all identical  ENSXETG00000013185  1448SKGFNYHQGPEWMWPIGYFL
protein features
start (aa)end (aa)featuredetails 
15321532REGIONAmylo-1,6-glucosidase. - EXACT POSITION UNKNOWNmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4599 / 4599
position (AA) of stopcodon in wt / mu AA sequence 1533 / 1533
position of stopcodon in wt / mu cDNA 4797 / 4797
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 199 / 199
chromosome 1
strand 1
last intron/exon boundary 4680
theoretical NMD boundary in CDS 4431
length of CDS 4599
coding sequence (CDS) position 4342
cDNA position
(for ins/del: last normal base / first normal base)		 4540
gDNA position
(for ins/del: last normal base / first normal base)		 66409
chromosomal position
(for ins/del: last normal base / first normal base)		 100382048
original gDNA sequence snippet AAGGTTTCAATTATCACCAAGGACCTGTAAGAATTTCATTT
altered gDNA sequence snippet AAGGTTTCAATTATCACCAACGACCTGTAAGAATTTCATTT
original cDNA sequence snippet AAGGTTTCAATTATCACCAAGGACCTGAGTGGCTGTGGCCT
altered cDNA sequence snippet AAGGTTTCAATTATCACCAACGACCTGAGTGGCTGTGGCCT
wildtype AA sequence MGHSKQIRIL LLNEMEKLEK TLFRLEQGYE LQFRLGPTLQ GKAVTVYTNY PFPGETFNRE
KFRSLDWENP TEREDDSDKY CKLNLQQSGS FQYYFLQGNE KSGGGYIVVD PILRVGADNH
VLPLDCVTLQ TFLAKCLGPF DEWESRLRVA KESGYNMIHF TPLQTLGLSR SCYSLANQLE
LNPDFSRPNR KYTWNDVGQL VEKLKKEWNV ICITDVVYNH TAANSKWIQE HPECAYNLVN
SPHLKPAWVL DRALWRFSCD VAEGKYKEKG IPALIENDHH MNSIRKIIWE DIFPKLKLWE
FFQVDVNKAV EQFRRLLTQE NRRVTKSDPN QHLTIIQDPE YRRFGCTVDM NIALTTFIPH
DKGPAAIEEC CNWFHKRMEE LNSEKHRLIN YHQEQAVNCL LGNVFYERLA GHGPKLGPVT
RKHPLVTRYF TFPFEEIDFS MEESMIHLPN KACFLMAHNG WVMGDDPLRN FAEPGSEVYL
RRELICWGDS VKLRYGNKPE DCPYLWAHMK KYTEITATYF QGVRLDNCHS TPLHVAEYML
DAARNLQPNL YVVAELFTGS EDLDNVFVTR LGISSLIREA MSAYNSHEEG RLVYRYGGEP
VGSFVQPCLR PLMPAIAHAL FMDITHDNEC PIVHRSAYDA LPSTTIVSMA CCASGSTRGY
DELVPHQISV VSEERFYTKW NPEALPSNTG EVNFQSGIIA ARCAISKLHQ ELGAKGFIQV
YVDQVDEDIV AVTRHSPSIH QSVVAVSRTA FRNPKTSFYS KEVPQMCIPG KIEEVVLEAR
TIERNTKPYR KDENSINGTP DITVEIREHI QLNESKIVKQ AGVATKGPNE YIQEIEFENL
SPGSVIIFRV SLDPHAQVAV GILRNHLTQF SPHFKSGSLA VDNADPILKI PFASLASRLT
LAELNQILYR CESEEKEDGG GCYDIPNWSA LKYAGLQGLM SVLAEIRPKN DLGHPFCNNL
RSGDWMIDYV SNRLISRSGT IAEVGKWLQA MFFYLKQIPR YLIPCYFDAI LIGAYTTLLD
TAWKQMSSFV QNGSTFVKHL SLGSVQLCGV GKFPSLPILS PALMDVPYRL NEITKEKEQC
CVSLAAGLPH FSSGIFRCWG RDTFIALRGI LLITGRYVEA RNIILAFAGT LRHGLIPNLL
GEGIYARYNC RDAVWWWLQC IQDYCKMVPN GLDILKCPVS RMYPTDDSAP LPAGTLDQPL
FEVIQEAMQK HMQGIQFRER NAGPQIDRNM KDEGFNITAG VDEETGFVYG GNRFNCGTWM
DKMGESDRAR NRGIPATPRD GSAVEIVGLS KSAVRWLLEL SKKNIFPYHE VTVKRHGKAI
KVSYDEWNRK IQDNFEKLFH VSEDPSDLNE KHPNLVHKRG IYKDSYGASS PWCDYQLRPN
FTIAMVVAPE LFTTEKAWKA LEIAEKKLLG PLGMKTLDPD DMVYCGIYDN ALDNDNYNLA
KGFNYHQGPE WLWPIGYFLR AKLYFSRLMG PETTAKTIVL VKNVLSRHYV HLERSPWKGL
PELTNENAQY CPFSCETQAW SIATILETLY DL*
mutated AA sequence MGHSKQIRIL LLNEMEKLEK TLFRLEQGYE LQFRLGPTLQ GKAVTVYTNY PFPGETFNRE
KFRSLDWENP TEREDDSDKY CKLNLQQSGS FQYYFLQGNE KSGGGYIVVD PILRVGADNH
VLPLDCVTLQ TFLAKCLGPF DEWESRLRVA KESGYNMIHF TPLQTLGLSR SCYSLANQLE
LNPDFSRPNR KYTWNDVGQL VEKLKKEWNV ICITDVVYNH TAANSKWIQE HPECAYNLVN
SPHLKPAWVL DRALWRFSCD VAEGKYKEKG IPALIENDHH MNSIRKIIWE DIFPKLKLWE
FFQVDVNKAV EQFRRLLTQE NRRVTKSDPN QHLTIIQDPE YRRFGCTVDM NIALTTFIPH
DKGPAAIEEC CNWFHKRMEE LNSEKHRLIN YHQEQAVNCL LGNVFYERLA GHGPKLGPVT
RKHPLVTRYF TFPFEEIDFS MEESMIHLPN KACFLMAHNG WVMGDDPLRN FAEPGSEVYL
RRELICWGDS VKLRYGNKPE DCPYLWAHMK KYTEITATYF QGVRLDNCHS TPLHVAEYML
DAARNLQPNL YVVAELFTGS EDLDNVFVTR LGISSLIREA MSAYNSHEEG RLVYRYGGEP
VGSFVQPCLR PLMPAIAHAL FMDITHDNEC PIVHRSAYDA LPSTTIVSMA CCASGSTRGY
DELVPHQISV VSEERFYTKW NPEALPSNTG EVNFQSGIIA ARCAISKLHQ ELGAKGFIQV
YVDQVDEDIV AVTRHSPSIH QSVVAVSRTA FRNPKTSFYS KEVPQMCIPG KIEEVVLEAR
TIERNTKPYR KDENSINGTP DITVEIREHI QLNESKIVKQ AGVATKGPNE YIQEIEFENL
SPGSVIIFRV SLDPHAQVAV GILRNHLTQF SPHFKSGSLA VDNADPILKI PFASLASRLT
LAELNQILYR CESEEKEDGG GCYDIPNWSA LKYAGLQGLM SVLAEIRPKN DLGHPFCNNL
RSGDWMIDYV SNRLISRSGT IAEVGKWLQA MFFYLKQIPR YLIPCYFDAI LIGAYTTLLD
TAWKQMSSFV QNGSTFVKHL SLGSVQLCGV GKFPSLPILS PALMDVPYRL NEITKEKEQC
CVSLAAGLPH FSSGIFRCWG RDTFIALRGI LLITGRYVEA RNIILAFAGT LRHGLIPNLL
GEGIYARYNC RDAVWWWLQC IQDYCKMVPN GLDILKCPVS RMYPTDDSAP LPAGTLDQPL
FEVIQEAMQK HMQGIQFRER NAGPQIDRNM KDEGFNITAG VDEETGFVYG GNRFNCGTWM
DKMGESDRAR NRGIPATPRD GSAVEIVGLS KSAVRWLLEL SKKNIFPYHE VTVKRHGKAI
KVSYDEWNRK IQDNFEKLFH VSEDPSDLNE KHPNLVHKRG IYKDSYGASS PWCDYQLRPN
FTIAMVVAPE LFTTEKAWKA LEIAEKKLLG PLGMKTLDPD DMVYCGIYDN ALDNDNYNLA
KGFNYHQRPE WLWPIGYFLR AKLYFSRLMG PETTAKTIVL VKNVLSRHYV HLERSPWKGL
PELTNENAQY CPFSCETQAW SIATILETLY DL*
speed 1.02 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: 0.999999999979914 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM993300)
  • known disease mutation: rs1102 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:100382048G>CN/A show variant in all transcripts   IGV
HGNC symbol AGL
Ensembl transcript ID ENST00000294724
Genbank transcript ID NM_000028
UniProt peptide P35573
alteration type single base exchange
alteration region CDS
DNA changes c.4342G>C
cDNA.4820G>C
g.66409G>C
AA changes G1448R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1448
frameshift no
known variant Reference ID: rs118203964
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs1102 (pathogenic for Glycogen storage disease IIIa) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)

known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)
known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.3791
5.861
(flanking)5.861
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased66404wt: 0.80 / mu: 0.97wt: TTATCACCAAGGACC
mu: TTATCACCAACGACC		 ATCA|ccaa
Donor increased66407wt: 0.38 / mu: 0.47wt: TCACCAAGGACCTGT
mu: TCACCAACGACCTGT		 ACCA|agga
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1448YNLAKGFNYHQGPEWLWPIGYFLR
mutated  not conserved    1448KGFNYHQRPEWLWPIGYFL
Ptroglodytes  all identical  ENSPTRG00000000997  1448KGFNYHQGPEWLWPIGYFL
Mmulatta  all identical  ENSMMUG00000021441  1449AKGFNYHQGPEWLWPIGYFL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033400  1448RGFNYHQGPEWLWPIGYFL
Ggallus  all identical  ENSGALG00000005407  1447RGFNYHQGPEWLWPIGYFL
Trubripes  all identical  ENSTRUG00000012741  1448RGFNYHQGPEWLWPVGYFL
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0034618  1539CTVAHGANYHQGPEWVWPIGFYL
Celegans  all identical  R06A4.8  1378KKTAKGWNYHQGPEWLFVAGYYL
Xtropicalis  all identical  ENSXETG00000013185  1448SKGFNYHQGPEWMWPIGYFL
protein features
start (aa)end (aa)featuredetails 
15321532REGIONAmylo-1,6-glucosidase. - EXACT POSITION UNKNOWNmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4599 / 4599
position (AA) of stopcodon in wt / mu AA sequence 1533 / 1533
position of stopcodon in wt / mu cDNA 5077 / 5077
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 479 / 479
chromosome 1
strand 1
last intron/exon boundary 4960
theoretical NMD boundary in CDS 4431
length of CDS 4599
coding sequence (CDS) position 4342
cDNA position
(for ins/del: last normal base / first normal base)		 4820
gDNA position
(for ins/del: last normal base / first normal base)		 66409
chromosomal position
(for ins/del: last normal base / first normal base)		 100382048
original gDNA sequence snippet AAGGTTTCAATTATCACCAAGGACCTGTAAGAATTTCATTT
altered gDNA sequence snippet AAGGTTTCAATTATCACCAACGACCTGTAAGAATTTCATTT
original cDNA sequence snippet AAGGTTTCAATTATCACCAAGGACCTGAGTGGCTGTGGCCT
altered cDNA sequence snippet AAGGTTTCAATTATCACCAACGACCTGAGTGGCTGTGGCCT
wildtype AA sequence MGHSKQIRIL LLNEMEKLEK TLFRLEQGYE LQFRLGPTLQ GKAVTVYTNY PFPGETFNRE
KFRSLDWENP TEREDDSDKY CKLNLQQSGS FQYYFLQGNE KSGGGYIVVD PILRVGADNH
VLPLDCVTLQ TFLAKCLGPF DEWESRLRVA KESGYNMIHF TPLQTLGLSR SCYSLANQLE
LNPDFSRPNR KYTWNDVGQL VEKLKKEWNV ICITDVVYNH TAANSKWIQE HPECAYNLVN
SPHLKPAWVL DRALWRFSCD VAEGKYKEKG IPALIENDHH MNSIRKIIWE DIFPKLKLWE
FFQVDVNKAV EQFRRLLTQE NRRVTKSDPN QHLTIIQDPE YRRFGCTVDM NIALTTFIPH
DKGPAAIEEC CNWFHKRMEE LNSEKHRLIN YHQEQAVNCL LGNVFYERLA GHGPKLGPVT
RKHPLVTRYF TFPFEEIDFS MEESMIHLPN KACFLMAHNG WVMGDDPLRN FAEPGSEVYL
RRELICWGDS VKLRYGNKPE DCPYLWAHMK KYTEITATYF QGVRLDNCHS TPLHVAEYML
DAARNLQPNL YVVAELFTGS EDLDNVFVTR LGISSLIREA MSAYNSHEEG RLVYRYGGEP
VGSFVQPCLR PLMPAIAHAL FMDITHDNEC PIVHRSAYDA LPSTTIVSMA CCASGSTRGY
DELVPHQISV VSEERFYTKW NPEALPSNTG EVNFQSGIIA ARCAISKLHQ ELGAKGFIQV
YVDQVDEDIV AVTRHSPSIH QSVVAVSRTA FRNPKTSFYS KEVPQMCIPG KIEEVVLEAR
TIERNTKPYR KDENSINGTP DITVEIREHI QLNESKIVKQ AGVATKGPNE YIQEIEFENL
SPGSVIIFRV SLDPHAQVAV GILRNHLTQF SPHFKSGSLA VDNADPILKI PFASLASRLT
LAELNQILYR CESEEKEDGG GCYDIPNWSA LKYAGLQGLM SVLAEIRPKN DLGHPFCNNL
RSGDWMIDYV SNRLISRSGT IAEVGKWLQA MFFYLKQIPR YLIPCYFDAI LIGAYTTLLD
TAWKQMSSFV QNGSTFVKHL SLGSVQLCGV GKFPSLPILS PALMDVPYRL NEITKEKEQC
CVSLAAGLPH FSSGIFRCWG RDTFIALRGI LLITGRYVEA RNIILAFAGT LRHGLIPNLL
GEGIYARYNC RDAVWWWLQC IQDYCKMVPN GLDILKCPVS RMYPTDDSAP LPAGTLDQPL
FEVIQEAMQK HMQGIQFRER NAGPQIDRNM KDEGFNITAG VDEETGFVYG GNRFNCGTWM
DKMGESDRAR NRGIPATPRD GSAVEIVGLS KSAVRWLLEL SKKNIFPYHE VTVKRHGKAI
KVSYDEWNRK IQDNFEKLFH VSEDPSDLNE KHPNLVHKRG IYKDSYGASS PWCDYQLRPN
FTIAMVVAPE LFTTEKAWKA LEIAEKKLLG PLGMKTLDPD DMVYCGIYDN ALDNDNYNLA
KGFNYHQGPE WLWPIGYFLR AKLYFSRLMG PETTAKTIVL VKNVLSRHYV HLERSPWKGL
PELTNENAQY CPFSCETQAW SIATILETLY DL*
mutated AA sequence MGHSKQIRIL LLNEMEKLEK TLFRLEQGYE LQFRLGPTLQ GKAVTVYTNY PFPGETFNRE
KFRSLDWENP TEREDDSDKY CKLNLQQSGS FQYYFLQGNE KSGGGYIVVD PILRVGADNH
VLPLDCVTLQ TFLAKCLGPF DEWESRLRVA KESGYNMIHF TPLQTLGLSR SCYSLANQLE
LNPDFSRPNR KYTWNDVGQL VEKLKKEWNV ICITDVVYNH TAANSKWIQE HPECAYNLVN
SPHLKPAWVL DRALWRFSCD VAEGKYKEKG IPALIENDHH MNSIRKIIWE DIFPKLKLWE
FFQVDVNKAV EQFRRLLTQE NRRVTKSDPN QHLTIIQDPE YRRFGCTVDM NIALTTFIPH
DKGPAAIEEC CNWFHKRMEE LNSEKHRLIN YHQEQAVNCL LGNVFYERLA GHGPKLGPVT
RKHPLVTRYF TFPFEEIDFS MEESMIHLPN KACFLMAHNG WVMGDDPLRN FAEPGSEVYL
RRELICWGDS VKLRYGNKPE DCPYLWAHMK KYTEITATYF QGVRLDNCHS TPLHVAEYML
DAARNLQPNL YVVAELFTGS EDLDNVFVTR LGISSLIREA MSAYNSHEEG RLVYRYGGEP
VGSFVQPCLR PLMPAIAHAL FMDITHDNEC PIVHRSAYDA LPSTTIVSMA CCASGSTRGY
DELVPHQISV VSEERFYTKW NPEALPSNTG EVNFQSGIIA ARCAISKLHQ ELGAKGFIQV
YVDQVDEDIV AVTRHSPSIH QSVVAVSRTA FRNPKTSFYS KEVPQMCIPG KIEEVVLEAR
TIERNTKPYR KDENSINGTP DITVEIREHI QLNESKIVKQ AGVATKGPNE YIQEIEFENL
SPGSVIIFRV SLDPHAQVAV GILRNHLTQF SPHFKSGSLA VDNADPILKI PFASLASRLT
LAELNQILYR CESEEKEDGG GCYDIPNWSA LKYAGLQGLM SVLAEIRPKN DLGHPFCNNL
RSGDWMIDYV SNRLISRSGT IAEVGKWLQA MFFYLKQIPR YLIPCYFDAI LIGAYTTLLD
TAWKQMSSFV QNGSTFVKHL SLGSVQLCGV GKFPSLPILS PALMDVPYRL NEITKEKEQC
CVSLAAGLPH FSSGIFRCWG RDTFIALRGI LLITGRYVEA RNIILAFAGT LRHGLIPNLL
GEGIYARYNC RDAVWWWLQC IQDYCKMVPN GLDILKCPVS RMYPTDDSAP LPAGTLDQPL
FEVIQEAMQK HMQGIQFRER NAGPQIDRNM KDEGFNITAG VDEETGFVYG GNRFNCGTWM
DKMGESDRAR NRGIPATPRD GSAVEIVGLS KSAVRWLLEL SKKNIFPYHE VTVKRHGKAI
KVSYDEWNRK IQDNFEKLFH VSEDPSDLNE KHPNLVHKRG IYKDSYGASS PWCDYQLRPN
FTIAMVVAPE LFTTEKAWKA LEIAEKKLLG PLGMKTLDPD DMVYCGIYDN ALDNDNYNLA
KGFNYHQRPE WLWPIGYFLR AKLYFSRLMG PETTAKTIVL VKNVLSRHYV HLERSPWKGL
PELTNENAQY CPFSCETQAW SIATILETLY DL*
speed 1.00 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: 0.999999999979914 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM993300)
  • known disease mutation: rs1102 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:100382048G>CN/A show variant in all transcripts   IGV
HGNC symbol AGL
Ensembl transcript ID ENST00000361302
Genbank transcript ID NM_000646
UniProt peptide P35573
alteration type single base exchange
alteration region CDS
DNA changes c.4294G>C
cDNA.4553G>C
g.66409G>C
AA changes G1432R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1432
frameshift no
known variant Reference ID: rs118203964
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs1102 (pathogenic for Glycogen storage disease IIIa) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)

known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)
known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.3791
5.861
(flanking)5.861
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased66404wt: 0.80 / mu: 0.97wt: TTATCACCAAGGACC
mu: TTATCACCAACGACC		 ATCA|ccaa
Donor increased66407wt: 0.38 / mu: 0.47wt: TCACCAAGGACCTGT
mu: TCACCAACGACCTGT		 ACCA|agga
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1432YNLAKGFNYHQGPEWLWPIGYFLR
mutated  not conserved    1432YNLAKGFNYHQRPEWLWPIG
Ptroglodytes  all identical  ENSPTRG00000000997  1448YNLAKGFNYHQGPEWLWPIGYFL
Mmulatta  all identical  ENSMMUG00000021441  1449YNLAKGFNYHQGPEWLWPIGYFL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033400  1448YNLARGFNYHQGPEWLWPIGYFL
Ggallus  all identical  ENSGALG00000005407  1447YNVARGFNYHQGPEWLWPIGYFL
Trubripes  all identical  ENSTRUG00000012741  1448YNLARGFNYHQGPEWLWPVGYFL
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0034618  1539CTVAHGANYHQGPEWVWPIGFYL
Celegans  all identical  R06A4.8  1379KKTAKGWNYHQGPEWLFVAG
Xtropicalis  all identical  ENSXETG00000013185  1448YNLSKGFNYHQGPEWMWPIGYFL
protein features
start (aa)end (aa)featuredetails 
15321532REGIONAmylo-1,6-glucosidase. - EXACT POSITION UNKNOWNmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4551 / 4551
position (AA) of stopcodon in wt / mu AA sequence 1517 / 1517
position of stopcodon in wt / mu cDNA 4810 / 4810
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 260 / 260
chromosome 1
strand 1
last intron/exon boundary 4693
theoretical NMD boundary in CDS 4383
length of CDS 4551
coding sequence (CDS) position 4294
cDNA position
(for ins/del: last normal base / first normal base)		 4553
gDNA position
(for ins/del: last normal base / first normal base)		 66409
chromosomal position
(for ins/del: last normal base / first normal base)		 100382048
original gDNA sequence snippet AAGGTTTCAATTATCACCAAGGACCTGTAAGAATTTCATTT
altered gDNA sequence snippet AAGGTTTCAATTATCACCAACGACCTGTAAGAATTTCATTT
original cDNA sequence snippet AAGGTTTCAATTATCACCAAGGACCTGAGTGGCTGTGGCCT
altered cDNA sequence snippet AAGGTTTCAATTATCACCAACGACCTGAGTGGCTGTGGCCT
wildtype AA sequence MAPILSINLF IGYELQFRLG PTLQGKAVTV YTNYPFPGET FNREKFRSLD WENPTEREDD
SDKYCKLNLQ QSGSFQYYFL QGNEKSGGGY IVVDPILRVG ADNHVLPLDC VTLQTFLAKC
LGPFDEWESR LRVAKESGYN MIHFTPLQTL GLSRSCYSLA NQLELNPDFS RPNRKYTWND
VGQLVEKLKK EWNVICITDV VYNHTAANSK WIQEHPECAY NLVNSPHLKP AWVLDRALWR
FSCDVAEGKY KEKGIPALIE NDHHMNSIRK IIWEDIFPKL KLWEFFQVDV NKAVEQFRRL
LTQENRRVTK SDPNQHLTII QDPEYRRFGC TVDMNIALTT FIPHDKGPAA IEECCNWFHK
RMEELNSEKH RLINYHQEQA VNCLLGNVFY ERLAGHGPKL GPVTRKHPLV TRYFTFPFEE
IDFSMEESMI HLPNKACFLM AHNGWVMGDD PLRNFAEPGS EVYLRRELIC WGDSVKLRYG
NKPEDCPYLW AHMKKYTEIT ATYFQGVRLD NCHSTPLHVA EYMLDAARNL QPNLYVVAEL
FTGSEDLDNV FVTRLGISSL IREAMSAYNS HEEGRLVYRY GGEPVGSFVQ PCLRPLMPAI
AHALFMDITH DNECPIVHRS AYDALPSTTI VSMACCASGS TRGYDELVPH QISVVSEERF
YTKWNPEALP SNTGEVNFQS GIIAARCAIS KLHQELGAKG FIQVYVDQVD EDIVAVTRHS
PSIHQSVVAV SRTAFRNPKT SFYSKEVPQM CIPGKIEEVV LEARTIERNT KPYRKDENSI
NGTPDITVEI REHIQLNESK IVKQAGVATK GPNEYIQEIE FENLSPGSVI IFRVSLDPHA
QVAVGILRNH LTQFSPHFKS GSLAVDNADP ILKIPFASLA SRLTLAELNQ ILYRCESEEK
EDGGGCYDIP NWSALKYAGL QGLMSVLAEI RPKNDLGHPF CNNLRSGDWM IDYVSNRLIS
RSGTIAEVGK WLQAMFFYLK QIPRYLIPCY FDAILIGAYT TLLDTAWKQM SSFVQNGSTF
VKHLSLGSVQ LCGVGKFPSL PILSPALMDV PYRLNEITKE KEQCCVSLAA GLPHFSSGIF
RCWGRDTFIA LRGILLITGR YVEARNIILA FAGTLRHGLI PNLLGEGIYA RYNCRDAVWW
WLQCIQDYCK MVPNGLDILK CPVSRMYPTD DSAPLPAGTL DQPLFEVIQE AMQKHMQGIQ
FRERNAGPQI DRNMKDEGFN ITAGVDEETG FVYGGNRFNC GTWMDKMGES DRARNRGIPA
TPRDGSAVEI VGLSKSAVRW LLELSKKNIF PYHEVTVKRH GKAIKVSYDE WNRKIQDNFE
KLFHVSEDPS DLNEKHPNLV HKRGIYKDSY GASSPWCDYQ LRPNFTIAMV VAPELFTTEK
AWKALEIAEK KLLGPLGMKT LDPDDMVYCG IYDNALDNDN YNLAKGFNYH QGPEWLWPIG
YFLRAKLYFS RLMGPETTAK TIVLVKNVLS RHYVHLERSP WKGLPELTNE NAQYCPFSCE
TQAWSIATIL ETLYDL*
mutated AA sequence MAPILSINLF IGYELQFRLG PTLQGKAVTV YTNYPFPGET FNREKFRSLD WENPTEREDD
SDKYCKLNLQ QSGSFQYYFL QGNEKSGGGY IVVDPILRVG ADNHVLPLDC VTLQTFLAKC
LGPFDEWESR LRVAKESGYN MIHFTPLQTL GLSRSCYSLA NQLELNPDFS RPNRKYTWND
VGQLVEKLKK EWNVICITDV VYNHTAANSK WIQEHPECAY NLVNSPHLKP AWVLDRALWR
FSCDVAEGKY KEKGIPALIE NDHHMNSIRK IIWEDIFPKL KLWEFFQVDV NKAVEQFRRL
LTQENRRVTK SDPNQHLTII QDPEYRRFGC TVDMNIALTT FIPHDKGPAA IEECCNWFHK
RMEELNSEKH RLINYHQEQA VNCLLGNVFY ERLAGHGPKL GPVTRKHPLV TRYFTFPFEE
IDFSMEESMI HLPNKACFLM AHNGWVMGDD PLRNFAEPGS EVYLRRELIC WGDSVKLRYG
NKPEDCPYLW AHMKKYTEIT ATYFQGVRLD NCHSTPLHVA EYMLDAARNL QPNLYVVAEL
FTGSEDLDNV FVTRLGISSL IREAMSAYNS HEEGRLVYRY GGEPVGSFVQ PCLRPLMPAI
AHALFMDITH DNECPIVHRS AYDALPSTTI VSMACCASGS TRGYDELVPH QISVVSEERF
YTKWNPEALP SNTGEVNFQS GIIAARCAIS KLHQELGAKG FIQVYVDQVD EDIVAVTRHS
PSIHQSVVAV SRTAFRNPKT SFYSKEVPQM CIPGKIEEVV LEARTIERNT KPYRKDENSI
NGTPDITVEI REHIQLNESK IVKQAGVATK GPNEYIQEIE FENLSPGSVI IFRVSLDPHA
QVAVGILRNH LTQFSPHFKS GSLAVDNADP ILKIPFASLA SRLTLAELNQ ILYRCESEEK
EDGGGCYDIP NWSALKYAGL QGLMSVLAEI RPKNDLGHPF CNNLRSGDWM IDYVSNRLIS
RSGTIAEVGK WLQAMFFYLK QIPRYLIPCY FDAILIGAYT TLLDTAWKQM SSFVQNGSTF
VKHLSLGSVQ LCGVGKFPSL PILSPALMDV PYRLNEITKE KEQCCVSLAA GLPHFSSGIF
RCWGRDTFIA LRGILLITGR YVEARNIILA FAGTLRHGLI PNLLGEGIYA RYNCRDAVWW
WLQCIQDYCK MVPNGLDILK CPVSRMYPTD DSAPLPAGTL DQPLFEVIQE AMQKHMQGIQ
FRERNAGPQI DRNMKDEGFN ITAGVDEETG FVYGGNRFNC GTWMDKMGES DRARNRGIPA
TPRDGSAVEI VGLSKSAVRW LLELSKKNIF PYHEVTVKRH GKAIKVSYDE WNRKIQDNFE
KLFHVSEDPS DLNEKHPNLV HKRGIYKDSY GASSPWCDYQ LRPNFTIAMV VAPELFTTEK
AWKALEIAEK KLLGPLGMKT LDPDDMVYCG IYDNALDNDN YNLAKGFNYH QRPEWLWPIG
YFLRAKLYFS RLMGPETTAK TIVLVKNVLS RHYVHLERSP WKGLPELTNE NAQYCPFSCE
TQAWSIATIL ETLYDL*
speed 1.11 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: 0.999999999979914 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM993300)
  • known disease mutation: rs1102 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:100382048G>CN/A show variant in all transcripts   IGV
HGNC symbol AGL
Ensembl transcript ID ENST00000370161
Genbank transcript ID N/A
UniProt peptide P35573
alteration type single base exchange
alteration region CDS
DNA changes c.4294G>C
cDNA.4294G>C
g.66409G>C
AA changes G1432R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1432
frameshift no
known variant Reference ID: rs118203964
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs1102 (pathogenic for Glycogen storage disease IIIa) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)

known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)
known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.3791
5.861
(flanking)5.861
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased66404wt: 0.80 / mu: 0.97wt: TTATCACCAAGGACC
mu: TTATCACCAACGACC		 ATCA|ccaa
Donor increased66407wt: 0.38 / mu: 0.47wt: TCACCAAGGACCTGT
mu: TCACCAACGACCTGT		 ACCA|agga
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1432YNLAKGFNYHQGPEWLWPIGYFLR
mutated  not conserved    1432YNLAKGFNYHQRPEWLWPIG
Ptroglodytes  all identical  ENSPTRG00000000997  1448YNLAKGFNYHQGPEWLWPIGYFL
Mmulatta  all identical  ENSMMUG00000021441  1449YNLAKGFNYHQGPEWLWPIGYFL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033400  1448YNLARGFNYHQGPEWLWPIGYFL
Ggallus  all identical  ENSGALG00000005407  1447YNVARGFNYHQGPEWLWPIGYFL
Trubripes  all identical  ENSTRUG00000012741  1448YNLARGFNYHQGPEWLWPVGYFL
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0034618  1539CTVAHGANYHQGPEWVWPIGFYL
Celegans  all identical  R06A4.8  1379KKTAKGWNYHQGPEWLFVAG
Xtropicalis  all identical  ENSXETG00000013185  1448YNLSKGFNYHQGPEWMWPIGYFL
protein features
start (aa)end (aa)featuredetails 
15321532REGIONAmylo-1,6-glucosidase. - EXACT POSITION UNKNOWNmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4551 / 4551
position (AA) of stopcodon in wt / mu AA sequence 1517 / 1517
position of stopcodon in wt / mu cDNA 4551 / 4551
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 4434
theoretical NMD boundary in CDS 4383
length of CDS 4551
coding sequence (CDS) position 4294
cDNA position
(for ins/del: last normal base / first normal base)		 4294
gDNA position
(for ins/del: last normal base / first normal base)		 66409
chromosomal position
(for ins/del: last normal base / first normal base)		 100382048
original gDNA sequence snippet AAGGTTTCAATTATCACCAAGGACCTGTAAGAATTTCATTT
altered gDNA sequence snippet AAGGTTTCAATTATCACCAACGACCTGTAAGAATTTCATTT
original cDNA sequence snippet AAGGTTTCAATTATCACCAAGGACCTGAGTGGCTGTGGCCT
altered cDNA sequence snippet AAGGTTTCAATTATCACCAACGACCTGAGTGGCTGTGGCCT
wildtype AA sequence MAPILSINLF IGYELQFRLG PTLQGKAVTV YTNYPFPGET FNREKFRSLD WENPTEREDD
SDKYCKLNLQ QSGSFQYYFL QGNEKSGGGY IVVDPILRVG ADNHVLPLDC VTLQTFLAKC
LGPFDEWESR LRVAKESGYN MIHFTPLQTL GLSRSCYSLA NQLELNPDFS RPNRKYTWND
VGQLVEKLKK EWNVICITDV VYNHTAANSK WIQEHPECAY NLVNSPHLKP AWVLDRALWR
FSCDVAEGKY KEKGIPALIE NDHHMNSIRK IIWEDIFPKL KLWEFFQVDV NKAVEQFRRL
LTQENRRVTK SDPNQHLTII QDPEYRRFGC TVDMNIALTT FIPHDKGPAA IEECCNWFHK
RMEELNSEKH RLINYHQEQA VNCLLGNVFY ERLAGHGPKL GPVTRKHPLV TRYFTFPFEE
IDFSMEESMI HLPNKACFLM AHNGWVMGDD PLRNFAEPGS EVYLRRELIC WGDSVKLRYG
NKPEDCPYLW AHMKKYTEIT ATYFQGVRLD NCHSTPLHVA EYMLDAARNL QPNLYVVAEL
FTGSEDLDNV FVTRLGISSL IREAMSAYNS HEEGRLVYRY GGEPVGSFVQ PCLRPLMPAI
AHALFMDITH DNECPIVHRS AYDALPSTTI VSMACCASGS TRGYDELVPH QISVVSEERF
YTKWNPEALP SNTGEVNFQS GIIAARCAIS KLHQELGAKG FIQVYVDQVD EDIVAVTRHS
PSIHQSVVAV SRTAFRNPKT SFYSKEVPQM CIPGKIEEVV LEARTIERNT KPYRKDENSI
NGTPDITVEI REHIQLNESK IVKQAGVATK GPNEYIQEIE FENLSPGSVI IFRVSLDPHA
QVAVGILRNH LTQFSPHFKS GSLAVDNADP ILKIPFASLA SRLTLAELNQ ILYRCESEEK
EDGGGCYDIP NWSALKYAGL QGLMSVLAEI RPKNDLGHPF CNNLRSGDWM IDYVSNRLIS
RSGTIAEVGK WLQAMFFYLK QIPRYLIPCY FDAILIGAYT TLLDTAWKQM SSFVQNGSTF
VKHLSLGSVQ LCGVGKFPSL PILSPALMDV PYRLNEITKE KEQCCVSLAA GLPHFSSGIF
RCWGRDTFIA LRGILLITGR YVEARNIILA FAGTLRHGLI PNLLGEGIYA RYNCRDAVWW
WLQCIQDYCK MVPNGLDILK CPVSRMYPTD DSAPLPAGTL DQPLFEVIQE AMQKHMQGIQ
FRERNAGPQI DRNMKDEGFN ITAGVDEETG FVYGGNRFNC GTWMDKMGES DRARNRGIPA
TPRDGSAVEI VGLSKSAVRW LLELSKKNIF PYHEVTVKRH GKAIKVSYDE WNRKIQDNFE
KLFHVSEDPS DLNEKHPNLV HKRGIYKDSY GASSPWCDYQ LRPNFTIAMV VAPELFTTEK
AWKALEIAEK KLLGPLGMKT LDPDDMVYCG IYDNALDNDN YNLAKGFNYH QGPEWLWPIG
YFLRAKLYFS RLMGPETTAK TIVLVKNVLS RHYVHLERSP WKGLPELTNE NAQYCPFSCE
TQAWSIATIL ETLYDL*
mutated AA sequence MAPILSINLF IGYELQFRLG PTLQGKAVTV YTNYPFPGET FNREKFRSLD WENPTEREDD
SDKYCKLNLQ QSGSFQYYFL QGNEKSGGGY IVVDPILRVG ADNHVLPLDC VTLQTFLAKC
LGPFDEWESR LRVAKESGYN MIHFTPLQTL GLSRSCYSLA NQLELNPDFS RPNRKYTWND
VGQLVEKLKK EWNVICITDV VYNHTAANSK WIQEHPECAY NLVNSPHLKP AWVLDRALWR
FSCDVAEGKY KEKGIPALIE NDHHMNSIRK IIWEDIFPKL KLWEFFQVDV NKAVEQFRRL
LTQENRRVTK SDPNQHLTII QDPEYRRFGC TVDMNIALTT FIPHDKGPAA IEECCNWFHK
RMEELNSEKH RLINYHQEQA VNCLLGNVFY ERLAGHGPKL GPVTRKHPLV TRYFTFPFEE
IDFSMEESMI HLPNKACFLM AHNGWVMGDD PLRNFAEPGS EVYLRRELIC WGDSVKLRYG
NKPEDCPYLW AHMKKYTEIT ATYFQGVRLD NCHSTPLHVA EYMLDAARNL QPNLYVVAEL
FTGSEDLDNV FVTRLGISSL IREAMSAYNS HEEGRLVYRY GGEPVGSFVQ PCLRPLMPAI
AHALFMDITH DNECPIVHRS AYDALPSTTI VSMACCASGS TRGYDELVPH QISVVSEERF
YTKWNPEALP SNTGEVNFQS GIIAARCAIS KLHQELGAKG FIQVYVDQVD EDIVAVTRHS
PSIHQSVVAV SRTAFRNPKT SFYSKEVPQM CIPGKIEEVV LEARTIERNT KPYRKDENSI
NGTPDITVEI REHIQLNESK IVKQAGVATK GPNEYIQEIE FENLSPGSVI IFRVSLDPHA
QVAVGILRNH LTQFSPHFKS GSLAVDNADP ILKIPFASLA SRLTLAELNQ ILYRCESEEK
EDGGGCYDIP NWSALKYAGL QGLMSVLAEI RPKNDLGHPF CNNLRSGDWM IDYVSNRLIS
RSGTIAEVGK WLQAMFFYLK QIPRYLIPCY FDAILIGAYT TLLDTAWKQM SSFVQNGSTF
VKHLSLGSVQ LCGVGKFPSL PILSPALMDV PYRLNEITKE KEQCCVSLAA GLPHFSSGIF
RCWGRDTFIA LRGILLITGR YVEARNIILA FAGTLRHGLI PNLLGEGIYA RYNCRDAVWW
WLQCIQDYCK MVPNGLDILK CPVSRMYPTD DSAPLPAGTL DQPLFEVIQE AMQKHMQGIQ
FRERNAGPQI DRNMKDEGFN ITAGVDEETG FVYGGNRFNC GTWMDKMGES DRARNRGIPA
TPRDGSAVEI VGLSKSAVRW LLELSKKNIF PYHEVTVKRH GKAIKVSYDE WNRKIQDNFE
KLFHVSEDPS DLNEKHPNLV HKRGIYKDSY GASSPWCDYQ LRPNFTIAMV VAPELFTTEK
AWKALEIAEK KLLGPLGMKT LDPDDMVYCG IYDNALDNDN YNLAKGFNYH QRPEWLWPIG
YFLRAKLYFS RLMGPETTAK TIVLVKNVLS RHYVHLERSP WKGLPELTNE NAQYCPFSCE
TQAWSIATIL ETLYDL*
speed 1.02 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: 0.999999999979914 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM993300)
  • known disease mutation: rs1102 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:100382048G>CN/A show variant in all transcripts   IGV
HGNC symbol AGL
Ensembl transcript ID ENST00000361522
Genbank transcript ID NM_000645
UniProt peptide P35573
alteration type single base exchange
alteration region CDS
DNA changes c.4291G>C
cDNA.4553G>C
g.66409G>C
AA changes G1431R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1431
frameshift no
known variant Reference ID: rs118203964
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs1102 (pathogenic for Glycogen storage disease IIIa) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)

known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)
known disease mutation at this position, please check HGMD for details (HGMD ID CM993300)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.3791
5.861
(flanking)5.861
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased66404wt: 0.80 / mu: 0.97wt: TTATCACCAAGGACC
mu: TTATCACCAACGACC		 ATCA|ccaa
Donor increased66407wt: 0.38 / mu: 0.47wt: TCACCAAGGACCTGT
mu: TCACCAACGACCTGT		 ACCA|agga
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1431YNLAKGFNYHQGPEWLWPIGYFLR
mutated  not conserved    1431YNLAKGFNYHQRPEWLWPIGY
Ptroglodytes  all identical  ENSPTRG00000000997  1448YNLAKGFNYHQGPEWLWPIGYFL
Mmulatta  all identical  ENSMMUG00000021441  1449YNLAKGFNYHQGPEWLWPIGYFL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033400  1448YNLARGFNYHQGPEWLWPIGYFL
Ggallus  all identical  ENSGALG00000005407  1447YNVARGFNYHQGPEWLWPIGYFL
Trubripes  all identical  ENSTRUG00000012741  1448YNLARGFNYHQGPEWLWPVGYFL
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0034618  1539CTVAHGANYHQGPEWVWPIGFYL
Celegans  all identical  R06A4.8  1379KKTAKGWNYHQGPEWLFVAG
Xtropicalis  all identical  ENSXETG00000013185  1448YNLSKGFNYHQGPEWMWPIGYFL
protein features
start (aa)end (aa)featuredetails 
15321532REGIONAmylo-1,6-glucosidase. - EXACT POSITION UNKNOWNmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4548 / 4548
position (AA) of stopcodon in wt / mu AA sequence 1516 / 1516
position of stopcodon in wt / mu cDNA 4810 / 4810
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 263 / 263
chromosome 1
strand 1
last intron/exon boundary 4693
theoretical NMD boundary in CDS 4380
length of CDS 4548
coding sequence (CDS) position 4291
cDNA position
(for ins/del: last normal base / first normal base)		 4553
gDNA position
(for ins/del: last normal base / first normal base)		 66409
chromosomal position
(for ins/del: last normal base / first normal base)		 100382048
original gDNA sequence snippet AAGGTTTCAATTATCACCAAGGACCTGTAAGAATTTCATTT
altered gDNA sequence snippet AAGGTTTCAATTATCACCAACGACCTGTAAGAATTTCATTT
original cDNA sequence snippet AAGGTTTCAATTATCACCAAGGACCTGAGTGGCTGTGGCCT
altered cDNA sequence snippet AAGGTTTCAATTATCACCAACGACCTGAGTGGCTGTGGCCT
wildtype AA sequence MSLLTCAFYL GYELQFRLGP TLQGKAVTVY TNYPFPGETF NREKFRSLDW ENPTEREDDS
DKYCKLNLQQ SGSFQYYFLQ GNEKSGGGYI VVDPILRVGA DNHVLPLDCV TLQTFLAKCL
GPFDEWESRL RVAKESGYNM IHFTPLQTLG LSRSCYSLAN QLELNPDFSR PNRKYTWNDV
GQLVEKLKKE WNVICITDVV YNHTAANSKW IQEHPECAYN LVNSPHLKPA WVLDRALWRF
SCDVAEGKYK EKGIPALIEN DHHMNSIRKI IWEDIFPKLK LWEFFQVDVN KAVEQFRRLL
TQENRRVTKS DPNQHLTIIQ DPEYRRFGCT VDMNIALTTF IPHDKGPAAI EECCNWFHKR
MEELNSEKHR LINYHQEQAV NCLLGNVFYE RLAGHGPKLG PVTRKHPLVT RYFTFPFEEI
DFSMEESMIH LPNKACFLMA HNGWVMGDDP LRNFAEPGSE VYLRRELICW GDSVKLRYGN
KPEDCPYLWA HMKKYTEITA TYFQGVRLDN CHSTPLHVAE YMLDAARNLQ PNLYVVAELF
TGSEDLDNVF VTRLGISSLI REAMSAYNSH EEGRLVYRYG GEPVGSFVQP CLRPLMPAIA
HALFMDITHD NECPIVHRSA YDALPSTTIV SMACCASGST RGYDELVPHQ ISVVSEERFY
TKWNPEALPS NTGEVNFQSG IIAARCAISK LHQELGAKGF IQVYVDQVDE DIVAVTRHSP
SIHQSVVAVS RTAFRNPKTS FYSKEVPQMC IPGKIEEVVL EARTIERNTK PYRKDENSIN
GTPDITVEIR EHIQLNESKI VKQAGVATKG PNEYIQEIEF ENLSPGSVII FRVSLDPHAQ
VAVGILRNHL TQFSPHFKSG SLAVDNADPI LKIPFASLAS RLTLAELNQI LYRCESEEKE
DGGGCYDIPN WSALKYAGLQ GLMSVLAEIR PKNDLGHPFC NNLRSGDWMI DYVSNRLISR
SGTIAEVGKW LQAMFFYLKQ IPRYLIPCYF DAILIGAYTT LLDTAWKQMS SFVQNGSTFV
KHLSLGSVQL CGVGKFPSLP ILSPALMDVP YRLNEITKEK EQCCVSLAAG LPHFSSGIFR
CWGRDTFIAL RGILLITGRY VEARNIILAF AGTLRHGLIP NLLGEGIYAR YNCRDAVWWW
LQCIQDYCKM VPNGLDILKC PVSRMYPTDD SAPLPAGTLD QPLFEVIQEA MQKHMQGIQF
RERNAGPQID RNMKDEGFNI TAGVDEETGF VYGGNRFNCG TWMDKMGESD RARNRGIPAT
PRDGSAVEIV GLSKSAVRWL LELSKKNIFP YHEVTVKRHG KAIKVSYDEW NRKIQDNFEK
LFHVSEDPSD LNEKHPNLVH KRGIYKDSYG ASSPWCDYQL RPNFTIAMVV APELFTTEKA
WKALEIAEKK LLGPLGMKTL DPDDMVYCGI YDNALDNDNY NLAKGFNYHQ GPEWLWPIGY
FLRAKLYFSR LMGPETTAKT IVLVKNVLSR HYVHLERSPW KGLPELTNEN AQYCPFSCET
QAWSIATILE TLYDL*
mutated AA sequence MSLLTCAFYL GYELQFRLGP TLQGKAVTVY TNYPFPGETF NREKFRSLDW ENPTEREDDS
DKYCKLNLQQ SGSFQYYFLQ GNEKSGGGYI VVDPILRVGA DNHVLPLDCV TLQTFLAKCL
GPFDEWESRL RVAKESGYNM IHFTPLQTLG LSRSCYSLAN QLELNPDFSR PNRKYTWNDV
GQLVEKLKKE WNVICITDVV YNHTAANSKW IQEHPECAYN LVNSPHLKPA WVLDRALWRF
SCDVAEGKYK EKGIPALIEN DHHMNSIRKI IWEDIFPKLK LWEFFQVDVN KAVEQFRRLL
TQENRRVTKS DPNQHLTIIQ DPEYRRFGCT VDMNIALTTF IPHDKGPAAI EECCNWFHKR
MEELNSEKHR LINYHQEQAV NCLLGNVFYE RLAGHGPKLG PVTRKHPLVT RYFTFPFEEI
DFSMEESMIH LPNKACFLMA HNGWVMGDDP LRNFAEPGSE VYLRRELICW GDSVKLRYGN
KPEDCPYLWA HMKKYTEITA TYFQGVRLDN CHSTPLHVAE YMLDAARNLQ PNLYVVAELF
TGSEDLDNVF VTRLGISSLI REAMSAYNSH EEGRLVYRYG GEPVGSFVQP CLRPLMPAIA
HALFMDITHD NECPIVHRSA YDALPSTTIV SMACCASGST RGYDELVPHQ ISVVSEERFY
TKWNPEALPS NTGEVNFQSG IIAARCAISK LHQELGAKGF IQVYVDQVDE DIVAVTRHSP
SIHQSVVAVS RTAFRNPKTS FYSKEVPQMC IPGKIEEVVL EARTIERNTK PYRKDENSIN
GTPDITVEIR EHIQLNESKI VKQAGVATKG PNEYIQEIEF ENLSPGSVII FRVSLDPHAQ
VAVGILRNHL TQFSPHFKSG SLAVDNADPI LKIPFASLAS RLTLAELNQI LYRCESEEKE
DGGGCYDIPN WSALKYAGLQ GLMSVLAEIR PKNDLGHPFC NNLRSGDWMI DYVSNRLISR
SGTIAEVGKW LQAMFFYLKQ IPRYLIPCYF DAILIGAYTT LLDTAWKQMS SFVQNGSTFV
KHLSLGSVQL CGVGKFPSLP ILSPALMDVP YRLNEITKEK EQCCVSLAAG LPHFSSGIFR
CWGRDTFIAL RGILLITGRY VEARNIILAF AGTLRHGLIP NLLGEGIYAR YNCRDAVWWW
LQCIQDYCKM VPNGLDILKC PVSRMYPTDD SAPLPAGTLD QPLFEVIQEA MQKHMQGIQF
RERNAGPQID RNMKDEGFNI TAGVDEETGF VYGGNRFNCG TWMDKMGESD RARNRGIPAT
PRDGSAVEIV GLSKSAVRWL LELSKKNIFP YHEVTVKRHG KAIKVSYDEW NRKIQDNFEK
LFHVSEDPSD LNEKHPNLVH KRGIYKDSYG ASSPWCDYQL RPNFTIAMVV APELFTTEKA
WKALEIAEKK LLGPLGMKTL DPDDMVYCGI YDNALDNDNY NLAKGFNYHQ RPEWLWPIGY
FLRAKLYFSR LMGPETTAKT IVLVKNVLSR HYVHLERSPW KGLPELTNEN AQYCPFSCET
QAWSIATILE TLYDL*
speed 1.20 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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