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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000264914
Querying Taster for transcript #2: ENST00000396151
Querying Taster for transcript #3: ENST00000565165
MT speed 0 s - this script 3.538485 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ARSBdisease_causing0.999999999999997simple_aaeaffectedG137Vsingle base exchangers118203938show file
ARSBdisease_causing0.999999999999997simple_aaeaffectedG137Vsingle base exchangers118203938show file
ARSBdisease_causing0.999999999999997simple_aaeaffectedG137Vsingle base exchangers118203938show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999999997      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM910053)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:78264918C>AN/A show variant in all transcripts   IGV
HGNC symbol ARSB
Ensembl transcript ID ENST00000264914
Genbank transcript ID NM_000046
UniProt peptide P15848
alteration type single base exchange
alteration region CDS
DNA changes c.410G>T
cDNA.947G>T
g.16993G>T
AA changes G137V Score: 109 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 137
frameshift no
known variant Reference ID: rs118203938
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM910053)

known disease mutation at this position, please check HGMD for details (HGMD ID CM910053)
known disease mutation at this position, please check HGMD for details (HGMD ID CM910053)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1610.998
6.3761
(flanking)6.3761
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased16988wt: 0.5447 / mu: 0.5725 (marginal change - not scored)wt: AAAGAAGCAGGTTAT
mu: AAAGAAGCAGTTTAT		 AGAA|gcag
Acc gained170040.39mu: AAGAAGCAGTTTATACTACCCATATGGTCGGAAAATGGCAC accc|ATAT
Donor gained169860.33mu: TAAAAGAAGCAGTTT AAAG|aagc
distance from splice site 90
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      137EKLLPQLLKEAGYTTHMVGKWHLG
mutated  not conserved    137EKLLPQLLKEAVYTTHMVGKWHL
Ptroglodytes  all identical  ENSPTRG00000017019  139EKLLPQLLKEAGYTTHMVGKWHL
Mmulatta  all identical  ENSMMUG00000006792  138EKLLPQLLKEAGYTTHMVGKWHL
Fcatus  all identical  ENSFCAG00000011879  139EKLLPQLLKEAGYTTHMVGKWHL
Mmusculus  all identical  ENSMUSG00000042082  138EKLLPQLLKEAGYATHMVGKWHL
Ggallus  all identical  ENSGALG00000004438  130LKDAGYVTHMVGKWHL
Trubripes  all identical  ENSTRUG00000003412  117EKLLPQLMKEAGYATHMVGKWHL
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000000542  131DKLLPELLKERGYVTHMVGKWHL
protein features
start (aa)end (aa)featuredetails 
129135HELIXmight get lost (downstream of altered splice site)
139144STRANDmight get lost (downstream of altered splice site)
145145BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
147147ACT_SITEmight get lost (downstream of altered splice site)
153153CONFLICTK -> F (in Ref. 1; AA sequence).might get lost (downstream of altered splice site)
153155HELIXmight get lost (downstream of altered splice site)
155155DISULFIDmight get lost (downstream of altered splice site)
157159HELIXmight get lost (downstream of altered splice site)
163167STRANDmight get lost (downstream of altered splice site)
169171STRANDmight get lost (downstream of altered splice site)
175177TURNmight get lost (downstream of altered splice site)
179184STRANDmight get lost (downstream of altered splice site)
181181DISULFIDmight get lost (downstream of altered splice site)
185188TURNmight get lost (downstream of altered splice site)
188188CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
189194STRANDmight get lost (downstream of altered splice site)
192192DISULFIDmight get lost (downstream of altered splice site)
211224HELIXmight get lost (downstream of altered splice site)
232237STRANDmight get lost (downstream of altered splice site)
242242BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
242244STRANDmight get lost (downstream of altered splice site)
249251HELIXmight get lost (downstream of altered splice site)
253255HELIXmight get lost (downstream of altered splice site)
261286HELIXmight get lost (downstream of altered splice site)
279279CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
290292HELIXmight get lost (downstream of altered splice site)
291291CARBOHYDN-linked (GlcNAc...) (Probable).might get lost (downstream of altered splice site)
293301STRANDmight get lost (downstream of altered splice site)
300300METALCalcium.might get lost (downstream of altered splice site)
301301METALCalcium.might get lost (downstream of altered splice site)
305307HELIXmight get lost (downstream of altered splice site)
318318BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
320322STRANDmight get lost (downstream of altered splice site)
323326HELIXmight get lost (downstream of altered splice site)
330333STRANDmight get lost (downstream of altered splice site)
341344STRANDmight get lost (downstream of altered splice site)
350352HELIXmight get lost (downstream of altered splice site)
353360HELIXmight get lost (downstream of altered splice site)
366366CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
377382HELIXmight get lost (downstream of altered splice site)
390396STRANDmight get lost (downstream of altered splice site)
405405DISULFIDmight get lost (downstream of altered splice site)
408410CONFLICTNSM -> SPC (in Ref. 1; AA sequence).might get lost (downstream of altered splice site)
426426CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
429435STRANDmight get lost (downstream of altered splice site)
438443STRANDmight get lost (downstream of altered splice site)
447447DISULFIDmight get lost (downstream of altered splice site)
454456TURNmight get lost (downstream of altered splice site)
458458CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
472476STRANDmight get lost (downstream of altered splice site)
477479TURNmight get lost (downstream of altered splice site)
488490TURNmight get lost (downstream of altered splice site)
492507HELIXmight get lost (downstream of altered splice site)
519521HELIXmight get lost (downstream of altered splice site)
521521DISULFIDmight get lost (downstream of altered splice site)
524526TURNmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1602 / 1602
position (AA) of stopcodon in wt / mu AA sequence 534 / 534
position of stopcodon in wt / mu cDNA 2139 / 2139
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 538 / 538
chromosome 5
strand -1
last intron/exon boundary 1874
theoretical NMD boundary in CDS 1286
length of CDS 1602
coding sequence (CDS) position 410
cDNA position
(for ins/del: last normal base / first normal base)		 947
gDNA position
(for ins/del: last normal base / first normal base)		 16993
chromosomal position
(for ins/del: last normal base / first normal base)		 78264918
original gDNA sequence snippet CCAGCTCCTAAAAGAAGCAGGTTATACTACCCATATGGTCG
altered gDNA sequence snippet CCAGCTCCTAAAAGAAGCAGTTTATACTACCCATATGGTCG
original cDNA sequence snippet CCAGCTCCTAAAAGAAGCAGGTTATACTACCCATATGGTCG
altered cDNA sequence snippet CCAGCTCCTAAAAGAAGCAGTTTATACTACCCATATGGTCG
wildtype AA sequence MGPRGAASLP RGPGPRRLLL PVVLPLLLLL LLAPPGSGAG ASRPPHLVFL LADDLGWNDV
GFHGSRIRTP HLDALAAGGV LLDNYYTQPL CTPSRSQLLT GRYQIRTGLQ HQIIWPCQPS
CVPLDEKLLP QLLKEAGYTT HMVGKWHLGM YRKECLPTRR GFDTYFGYLL GSEDYYSHER
CTLIDALNVT RCALDFRDGE EVATGYKNMY STNIFTKRAI ALITNHPPEK PLFLYLALQS
VHEPLQVPEE YLKPYDFIQD KNRHHYAGMV SLMDEAVGNV TAALKSSGLW NNTVFIFSTD
NGGQTLAGGN NWPLRGRKWS LWEGGVRGVG FVASPLLKQK GVKNRELIHI SDWLPTLVKL
ARGHTNGTKP LDGFDVWKTI SEGSPSPRIE LLHNIDPNFV DSSPCPRNSM APAKDDSSLP
EYSAFNTSVH AAIRHGNWKL LTGYPGCGYW FPPPSQYNVS EIPSSDPPTK TLWLFDIDRD
PEERHDLSRE YPHIVTKLLS RLQFYHKHSV PVYFPAQDPR CDPKATGVWG PWM*
mutated AA sequence MGPRGAASLP RGPGPRRLLL PVVLPLLLLL LLAPPGSGAG ASRPPHLVFL LADDLGWNDV
GFHGSRIRTP HLDALAAGGV LLDNYYTQPL CTPSRSQLLT GRYQIRTGLQ HQIIWPCQPS
CVPLDEKLLP QLLKEAVYTT HMVGKWHLGM YRKECLPTRR GFDTYFGYLL GSEDYYSHER
CTLIDALNVT RCALDFRDGE EVATGYKNMY STNIFTKRAI ALITNHPPEK PLFLYLALQS
VHEPLQVPEE YLKPYDFIQD KNRHHYAGMV SLMDEAVGNV TAALKSSGLW NNTVFIFSTD
NGGQTLAGGN NWPLRGRKWS LWEGGVRGVG FVASPLLKQK GVKNRELIHI SDWLPTLVKL
ARGHTNGTKP LDGFDVWKTI SEGSPSPRIE LLHNIDPNFV DSSPCPRNSM APAKDDSSLP
EYSAFNTSVH AAIRHGNWKL LTGYPGCGYW FPPPSQYNVS EIPSSDPPTK TLWLFDIDRD
PEERHDLSRE YPHIVTKLLS RLQFYHKHSV PVYFPAQDPR CDPKATGVWG PWM*
speed 0.71 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: 0.999999999999997      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM910053)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:78264918C>AN/A show variant in all transcripts   IGV
HGNC symbol ARSB
Ensembl transcript ID ENST00000396151
Genbank transcript ID NM_198709
UniProt peptide P15848
alteration type single base exchange
alteration region CDS
DNA changes c.410G>T
cDNA.909G>T
g.16993G>T
AA changes G137V Score: 109 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 137
frameshift no
known variant Reference ID: rs118203938
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM910053)

known disease mutation at this position, please check HGMD for details (HGMD ID CM910053)
known disease mutation at this position, please check HGMD for details (HGMD ID CM910053)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1610.998
6.3761
(flanking)6.3761
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased16988wt: 0.5447 / mu: 0.5725 (marginal change - not scored)wt: AAAGAAGCAGGTTAT
mu: AAAGAAGCAGTTTAT		 AGAA|gcag
Acc gained170040.39mu: AAGAAGCAGTTTATACTACCCATATGGTCGGAAAATGGCAC accc|ATAT
Donor gained169860.33mu: TAAAAGAAGCAGTTT AAAG|aagc
distance from splice site 90
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      137EKLLPQLLKEAGYTTHMVGKWHLG
mutated  not conserved    137EKLLPQLLKEAVYTTHMVGKWHL
Ptroglodytes  all identical  ENSPTRG00000017019  139EKLLPQLLKEAGYTTHMVGKWHL
Mmulatta  all identical  ENSMMUG00000006792  138EKLLPQLLKEAGYTTHMVGKWHL
Fcatus  all identical  ENSFCAG00000011879  139EKLLPQLLKEAGYTTHMVGKWHL
Mmusculus  all identical  ENSMUSG00000042082  138EKLLPQLLKEAGYATHMVGKWHL
Ggallus  all identical  ENSGALG00000004438  130LKDAGYVTHMVGKWHL
Trubripes  all identical  ENSTRUG00000003412  117EKLLPQLMKEAGYATHMVGKWHL
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000000542  131DKLLPELLKERGYVTHMVGKWHL
protein features
start (aa)end (aa)featuredetails 
129135HELIXmight get lost (downstream of altered splice site)
139144STRANDmight get lost (downstream of altered splice site)
145145BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
147147ACT_SITEmight get lost (downstream of altered splice site)
153153CONFLICTK -> F (in Ref. 1; AA sequence).might get lost (downstream of altered splice site)
153155HELIXmight get lost (downstream of altered splice site)
155155DISULFIDmight get lost (downstream of altered splice site)
157159HELIXmight get lost (downstream of altered splice site)
163167STRANDmight get lost (downstream of altered splice site)
169171STRANDmight get lost (downstream of altered splice site)
175177TURNmight get lost (downstream of altered splice site)
179184STRANDmight get lost (downstream of altered splice site)
181181DISULFIDmight get lost (downstream of altered splice site)
185188TURNmight get lost (downstream of altered splice site)
188188CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
189194STRANDmight get lost (downstream of altered splice site)
192192DISULFIDmight get lost (downstream of altered splice site)
211224HELIXmight get lost (downstream of altered splice site)
232237STRANDmight get lost (downstream of altered splice site)
242242BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
242244STRANDmight get lost (downstream of altered splice site)
249251HELIXmight get lost (downstream of altered splice site)
253255HELIXmight get lost (downstream of altered splice site)
261286HELIXmight get lost (downstream of altered splice site)
279279CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
290292HELIXmight get lost (downstream of altered splice site)
291291CARBOHYDN-linked (GlcNAc...) (Probable).might get lost (downstream of altered splice site)
293301STRANDmight get lost (downstream of altered splice site)
300300METALCalcium.might get lost (downstream of altered splice site)
301301METALCalcium.might get lost (downstream of altered splice site)
305307HELIXmight get lost (downstream of altered splice site)
318318BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
320322STRANDmight get lost (downstream of altered splice site)
323326HELIXmight get lost (downstream of altered splice site)
330333STRANDmight get lost (downstream of altered splice site)
341344STRANDmight get lost (downstream of altered splice site)
350352HELIXmight get lost (downstream of altered splice site)
353360HELIXmight get lost (downstream of altered splice site)
366366CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
377382HELIXmight get lost (downstream of altered splice site)
390396STRANDmight get lost (downstream of altered splice site)
405405DISULFIDmight get lost (downstream of altered splice site)
408410CONFLICTNSM -> SPC (in Ref. 1; AA sequence).might get lost (downstream of altered splice site)
426426CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
429435STRANDmight get lost (downstream of altered splice site)
438443STRANDmight get lost (downstream of altered splice site)
447447DISULFIDmight get lost (downstream of altered splice site)
454456TURNmight get lost (downstream of altered splice site)
458458CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
472476STRANDmight get lost (downstream of altered splice site)
477479TURNmight get lost (downstream of altered splice site)
488490TURNmight get lost (downstream of altered splice site)
492507HELIXmight get lost (downstream of altered splice site)
519521HELIXmight get lost (downstream of altered splice site)
521521DISULFIDmight get lost (downstream of altered splice site)
524526TURNmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1242 / 1242
position (AA) of stopcodon in wt / mu AA sequence 414 / 414
position of stopcodon in wt / mu cDNA 1741 / 1741
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 500 / 500
chromosome 5
strand -1
last intron/exon boundary 1713
theoretical NMD boundary in CDS 1163
length of CDS 1242
coding sequence (CDS) position 410
cDNA position
(for ins/del: last normal base / first normal base)		 909
gDNA position
(for ins/del: last normal base / first normal base)		 16993
chromosomal position
(for ins/del: last normal base / first normal base)		 78264918
original gDNA sequence snippet CCAGCTCCTAAAAGAAGCAGGTTATACTACCCATATGGTCG
altered gDNA sequence snippet CCAGCTCCTAAAAGAAGCAGTTTATACTACCCATATGGTCG
original cDNA sequence snippet CCAGCTCCTAAAAGAAGCAGGTTATACTACCCATATGGTCG
altered cDNA sequence snippet CCAGCTCCTAAAAGAAGCAGTTTATACTACCCATATGGTCG
wildtype AA sequence MGPRGAASLP RGPGPRRLLL PVVLPLLLLL LLAPPGSGAG ASRPPHLVFL LADDLGWNDV
GFHGSRIRTP HLDALAAGGV LLDNYYTQPL CTPSRSQLLT GRYQIRTGLQ HQIIWPCQPS
CVPLDEKLLP QLLKEAGYTT HMVGKWHLGM YRKECLPTRR GFDTYFGYLL GSEDYYSHER
CTLIDALNVT RCALDFRDGE EVATGYKNMY STNIFTKRAI ALITNHPPEK PLFLYLALQS
VHEPLQVPEE YLKPYDFIQD KNRHHYAGMV SLMDEAVGNV TAALKSSGLW NNTVFIFSTD
NGGQTLAGGN NWPLRGRKWS LWEGGVRGVG FVASPLLKQK GVKNRELIHI SDWLPTLVKL
ARGHTNGTKP LDGFDVWKTI SEGSPSPRIE LLHNIDPNFV DSSPYWPECS LLL*
mutated AA sequence MGPRGAASLP RGPGPRRLLL PVVLPLLLLL LLAPPGSGAG ASRPPHLVFL LADDLGWNDV
GFHGSRIRTP HLDALAAGGV LLDNYYTQPL CTPSRSQLLT GRYQIRTGLQ HQIIWPCQPS
CVPLDEKLLP QLLKEAVYTT HMVGKWHLGM YRKECLPTRR GFDTYFGYLL GSEDYYSHER
CTLIDALNVT RCALDFRDGE EVATGYKNMY STNIFTKRAI ALITNHPPEK PLFLYLALQS
VHEPLQVPEE YLKPYDFIQD KNRHHYAGMV SLMDEAVGNV TAALKSSGLW NNTVFIFSTD
NGGQTLAGGN NWPLRGRKWS LWEGGVRGVG FVASPLLKQK GVKNRELIHI SDWLPTLVKL
ARGHTNGTKP LDGFDVWKTI SEGSPSPRIE LLHNIDPNFV DSSPYWPECS LLL*
speed 0.77 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: 0.999999999999997      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM910053)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:78264918C>AN/A show variant in all transcripts   IGV
HGNC symbol ARSB
Ensembl transcript ID ENST00000565165
Genbank transcript ID N/A
UniProt peptide P15848
alteration type single base exchange
alteration region CDS
DNA changes c.410G>T
cDNA.909G>T
g.16993G>T
AA changes G137V Score: 109 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 137
frameshift no
known variant Reference ID: rs118203938
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM910053)

known disease mutation at this position, please check HGMD for details (HGMD ID CM910053)
known disease mutation at this position, please check HGMD for details (HGMD ID CM910053)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1610.998
6.3761
(flanking)6.3761
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased16988wt: 0.5447 / mu: 0.5725 (marginal change - not scored)wt: AAAGAAGCAGGTTAT
mu: AAAGAAGCAGTTTAT		 AGAA|gcag
Acc gained170040.39mu: AAGAAGCAGTTTATACTACCCATATGGTCGGAAAATGGCAC accc|ATAT
Donor gained169860.33mu: TAAAAGAAGCAGTTT AAAG|aagc
distance from splice site 90
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      137EKLLPQLLKEAGYTTHMVGKWHLG
mutated  not conserved    137EKLLPQLLKEAVYTTHMVGKWHL
Ptroglodytes  all identical  ENSPTRG00000017019  139EKLLPQLLKEAGYTTHMVGKWHL
Mmulatta  all identical  ENSMMUG00000006792  138EKLLPQLLKEAGYTTHMVGKWHL
Fcatus  all identical  ENSFCAG00000011879  139EKLLPQLLKEAGYTTHMVGKWHL
Mmusculus  all identical  ENSMUSG00000042082  138EKLLPQLLKEAGYATHMVGKWHL
Ggallus  all identical  ENSGALG00000004438  130LKDAGYVTHMVGKWHL
Trubripes  all identical  ENSTRUG00000003412  117EKLLPQLMKEAGYATHMVGKWHL
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000000542  131DKLLPELLKERGYVTHMVGKWHL
protein features
start (aa)end (aa)featuredetails 
129135HELIXmight get lost (downstream of altered splice site)
139144STRANDmight get lost (downstream of altered splice site)
145145BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
147147ACT_SITEmight get lost (downstream of altered splice site)
153153CONFLICTK -> F (in Ref. 1; AA sequence).might get lost (downstream of altered splice site)
153155HELIXmight get lost (downstream of altered splice site)
155155DISULFIDmight get lost (downstream of altered splice site)
157159HELIXmight get lost (downstream of altered splice site)
163167STRANDmight get lost (downstream of altered splice site)
169171STRANDmight get lost (downstream of altered splice site)
175177TURNmight get lost (downstream of altered splice site)
179184STRANDmight get lost (downstream of altered splice site)
181181DISULFIDmight get lost (downstream of altered splice site)
185188TURNmight get lost (downstream of altered splice site)
188188CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
189194STRANDmight get lost (downstream of altered splice site)
192192DISULFIDmight get lost (downstream of altered splice site)
211224HELIXmight get lost (downstream of altered splice site)
232237STRANDmight get lost (downstream of altered splice site)
242242BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
242244STRANDmight get lost (downstream of altered splice site)
249251HELIXmight get lost (downstream of altered splice site)
253255HELIXmight get lost (downstream of altered splice site)
261286HELIXmight get lost (downstream of altered splice site)
279279CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
290292HELIXmight get lost (downstream of altered splice site)
291291CARBOHYDN-linked (GlcNAc...) (Probable).might get lost (downstream of altered splice site)
293301STRANDmight get lost (downstream of altered splice site)
300300METALCalcium.might get lost (downstream of altered splice site)
301301METALCalcium.might get lost (downstream of altered splice site)
305307HELIXmight get lost (downstream of altered splice site)
318318BINDINGSubstrate (By similarity).might get lost (downstream of altered splice site)
320322STRANDmight get lost (downstream of altered splice site)
323326HELIXmight get lost (downstream of altered splice site)
330333STRANDmight get lost (downstream of altered splice site)
341344STRANDmight get lost (downstream of altered splice site)
350352HELIXmight get lost (downstream of altered splice site)
353360HELIXmight get lost (downstream of altered splice site)
366366CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
377382HELIXmight get lost (downstream of altered splice site)
390396STRANDmight get lost (downstream of altered splice site)
405405DISULFIDmight get lost (downstream of altered splice site)
408410CONFLICTNSM -> SPC (in Ref. 1; AA sequence).might get lost (downstream of altered splice site)
426426CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
429435STRANDmight get lost (downstream of altered splice site)
438443STRANDmight get lost (downstream of altered splice site)
447447DISULFIDmight get lost (downstream of altered splice site)
454456TURNmight get lost (downstream of altered splice site)
458458CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
472476STRANDmight get lost (downstream of altered splice site)
477479TURNmight get lost (downstream of altered splice site)
488490TURNmight get lost (downstream of altered splice site)
492507HELIXmight get lost (downstream of altered splice site)
519521HELIXmight get lost (downstream of altered splice site)
521521DISULFIDmight get lost (downstream of altered splice site)
524526TURNmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1242 / 1242
position (AA) of stopcodon in wt / mu AA sequence 414 / 414
position of stopcodon in wt / mu cDNA 1741 / 1741
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 500 / 500
chromosome 5
strand -1
last intron/exon boundary 1713
theoretical NMD boundary in CDS 1163
length of CDS 1242
coding sequence (CDS) position 410
cDNA position
(for ins/del: last normal base / first normal base)		 909
gDNA position
(for ins/del: last normal base / first normal base)		 16993
chromosomal position
(for ins/del: last normal base / first normal base)		 78264918
original gDNA sequence snippet CCAGCTCCTAAAAGAAGCAGGTTATACTACCCATATGGTCG
altered gDNA sequence snippet CCAGCTCCTAAAAGAAGCAGTTTATACTACCCATATGGTCG
original cDNA sequence snippet CCAGCTCCTAAAAGAAGCAGGTTATACTACCCATATGGTCG
altered cDNA sequence snippet CCAGCTCCTAAAAGAAGCAGTTTATACTACCCATATGGTCG
wildtype AA sequence MGPRGAASLP RGPGPRRLLL PVVLPLLLLL LLAPPGSGAG ASRPPHLVFL LADDLGWNDV
GFHGSRIRTP HLDALAAGGV LLDNYYTQPL CTPSRSQLLT GRYQIRTGLQ HQIIWPCQPS
CVPLDEKLLP QLLKEAGYTT HMVGKWHLGM YRKECLPTRR GFDTYFGYLL GSEDYYSHER
CTLIDALNVT RCALDFRDGE EVATGYKNMY STNIFTKRAI ALITNHPPEK PLFLYLALQS
VHEPLQVPEE YLKPYDFIQD KNRHHYAGMV SLMDEAVGNV TAALKSSGLW NNTVFIFSTD
NGGQTLAGGN NWPLRGRKWS LWEGGVRGVG FVASPLLKQK GVKNRELIHI SDWLPTLVKL
ARGHTNGTKP LDGFDVWKTI SEGSPSPRIE LLHNIDPNFV DSSPYWPECS LLL*
mutated AA sequence MGPRGAASLP RGPGPRRLLL PVVLPLLLLL LLAPPGSGAG ASRPPHLVFL LADDLGWNDV
GFHGSRIRTP HLDALAAGGV LLDNYYTQPL CTPSRSQLLT GRYQIRTGLQ HQIIWPCQPS
CVPLDEKLLP QLLKEAVYTT HMVGKWHLGM YRKECLPTRR GFDTYFGYLL GSEDYYSHER
CTLIDALNVT RCALDFRDGE EVATGYKNMY STNIFTKRAI ALITNHPPEK PLFLYLALQS
VHEPLQVPEE YLKPYDFIQD KNRHHYAGMV SLMDEAVGNV TAALKSSGLW NNTVFIFSTD
NGGQTLAGGN NWPLRGRKWS LWEGGVRGVG FVASPLLKQK GVKNRELIHI SDWLPTLVKL
ARGHTNGTKP LDGFDVWKTI SEGSPSPRIE LLHNIDPNFV DSSPYWPECS LLL*
speed 0.69 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Problems