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: ENST00000273783
Querying Taster for transcript #2: ENST00000432569
Querying Taster for transcript #3: ENST00000444495
MT speed 4.9 s - this script 8.699462 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
EIF2B5disease_causing0.999992742316455simple_aaeaffectedA74Tsingle base exchangers113994046show file
EIF2B5disease_causing0.999992742316455simple_aaeaffectedA74Tsingle base exchangers113994046show file
EIF2B5disease_causing0.999992742316455simple_aaeaffectedA74Tsingle base exchangers113994046show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999992742316455      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM051469)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:183854424G>AN/A show variant in all transcripts   IGV
HGNC symbol EIF2B5
Ensembl transcript ID ENST00000432569
Genbank transcript ID N/A
UniProt peptide Q13144
alteration type single base exchange
alteration region CDS
DNA changes c.220G>A
cDNA.241G>A
g.1599G>A
AA changes A74T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
74
frameshift no
known variant Reference ID: rs113994046
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM051469)

known disease mutation at this position, please check HGMD for details (HGMD ID CM051469)
known disease mutation at this position, please check HGMD for details (HGMD ID CM051469)
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K23ac, Histone, Histone 3 Lysine 23 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4111
3.1061
(flanking)6.131
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased1593wt: 0.8137 / mu: 0.8466 (marginal change - not scored)wt: AGGTCCTCTTGCCCCTGGCCAATGTGGCATTAATTGACTAC
mu: AGGTCCTCTTGCCCCTGGCCAATGTGACATTAATTGACTAC
 gcca|ATGT
Donor marginally increased1590wt: 0.4004 / mu: 0.4084 (marginal change - not scored)wt: CCCTGGCCAATGTGG
mu: CCCTGGCCAATGTGA
 CTGG|ccaa
Donor gained15950.53mu: GCCAATGTGACATTA CAAT|gtga
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      74QPRVLLPLANVALIDYTLEFLTAT
mutated  not conserved    74QPRVLLPLANVTLIDYTLEFLTA
Ptroglodytes  all identical  ENSPTRG00000015679  74QPRVLLPLANVALIDYTLEFLTA
Mmulatta  all identical  ENSMMUG00000006562  74QPRVLLPLANVALIDYTLEFLTA
Fcatus  all identical  ENSFCAG00000007787  74QPRVLLPLANVALIDYTLEFLTA
Mmusculus  all identical  ENSMUSG00000003235  70QPRVLLPLANVALIDYTLEFLTA
Ggallus  all identical  ENSGALG00000008376  58RPRALLPMANVAMIDY
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000074995  56QPRALLPLANVSMIDYTLEFLTS
Dmelanogaster  not conserved  FBgn0023512  40GSTALLPLVNVRMLDYALMALNR
Celegans  not conserved  D2085.3  50YPCFGTIPICNVPAINFALSWLMR
Xtropicalis  all identical  ENSXETG00000014293  70NVALIDYTLEFLTA
protein features
start (aa)end (aa)featuredetails 
505509COMPBIASPoly-Glu.might get lost (downstream of altered splice site)
525525MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
527527MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
529529MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
532532MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
535535MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
540540MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
543720DOMAINW2.might get lost (downstream of altered splice site)
544544MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
547567HELIXmight get lost (downstream of altered splice site)
571584HELIXmight get lost (downstream of altered splice site)
589602HELIXmight get lost (downstream of altered splice site)
603607HELIXmight get lost (downstream of altered splice site)
614635HELIXmight get lost (downstream of altered splice site)
639655HELIXmight get lost (downstream of altered splice site)
657662HELIXmight get lost (downstream of altered splice site)
663672HELIXmight get lost (downstream of altered splice site)
678685HELIXmight get lost (downstream of altered splice site)
693697HELIXmight get lost (downstream of altered splice site)
701714HELIXmight get lost (downstream of altered splice site)
717717MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
718718MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 324 / 324
position (AA) of stopcodon in wt / mu AA sequence 108 / 108
position of stopcodon in wt / mu cDNA 345 / 345
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 22 / 22
chromosome 3
strand 1
last intron/exon boundary 217
theoretical NMD boundary in CDS 145
length of CDS 324
coding sequence (CDS) position 220
cDNA position
(for ins/del: last normal base / first normal base)
241
gDNA position
(for ins/del: last normal base / first normal base)
1599
chromosomal position
(for ins/del: last normal base / first normal base)
183854424
original gDNA sequence snippet TCTTGCCCCTGGCCAATGTGGCATTAATTGACTACACTCTG
altered gDNA sequence snippet TCTTGCCCCTGGCCAATGTGACATTAATTGACTACACTCTG
original cDNA sequence snippet TCTTGCCCCTGGCCAATGTGGCATTAATTGACTACACTCTG
altered cDNA sequence snippet TCTTGCCCCTGGCCAATGTGACATTAATTGACTACACTCTG
wildtype AA sequence MAAPVVAPPG VVVSRANKRS GAGPGGSGGG GARGAEEEPP PPLQAVLVAD SFDRRFFPIS
KDQPRVLLPL ANVALIDYTL EFLTATGVQE TFVFCCWKAA QIKEHLL*
mutated AA sequence MAAPVVAPPG VVVSRANKRS GAGPGGSGGG GARGAEEEPP PPLQAVLVAD SFDRRFFPIS
KDQPRVLLPL ANVTLIDYTL EFLTATGVQE TFVFCCWKAA QIKEHLL*
speed 1.17 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: 0.999992742316455      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM051469)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:183854424G>AN/A show variant in all transcripts   IGV
HGNC symbol EIF2B5
Ensembl transcript ID ENST00000273783
Genbank transcript ID NM_003907
UniProt peptide Q13144
alteration type single base exchange
alteration region CDS
DNA changes c.220G>A
cDNA.342G>A
g.1599G>A
AA changes A74T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
74
frameshift no
known variant Reference ID: rs113994046
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM051469)

known disease mutation at this position, please check HGMD for details (HGMD ID CM051469)
known disease mutation at this position, please check HGMD for details (HGMD ID CM051469)
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K23ac, Histone, Histone 3 Lysine 23 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4111
3.1061
(flanking)6.131
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased1593wt: 0.8137 / mu: 0.8466 (marginal change - not scored)wt: AGGTCCTCTTGCCCCTGGCCAATGTGGCATTAATTGACTAC
mu: AGGTCCTCTTGCCCCTGGCCAATGTGACATTAATTGACTAC
 gcca|ATGT
Donor marginally increased1590wt: 0.4004 / mu: 0.4084 (marginal change - not scored)wt: CCCTGGCCAATGTGG
mu: CCCTGGCCAATGTGA
 CTGG|ccaa
Donor gained15950.53mu: GCCAATGTGACATTA CAAT|gtga
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      74QPRVLLPLANVALIDYTLEFLTAT
mutated  not conserved    74QPRVLLPLANVTLIDYTLEFLTA
Ptroglodytes  all identical  ENSPTRG00000015679  74QPRVLLPLANVALIDYTLEFLTA
Mmulatta  all identical  ENSMMUG00000006562  74QPRVLLPLANVALIDYTLEFLTA
Fcatus  all identical  ENSFCAG00000007787  74QPRVLLPLANVALIDYTLEFLTA
Mmusculus  all identical  ENSMUSG00000003235  70QPRVLLPLANVALIDYTLEFLTA
Ggallus  all identical  ENSGALG00000008376  58RPRALLPMANVAMIDY
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000074995  56QPRALLPLANVSMIDYTLEFLTS
Dmelanogaster  not conserved  FBgn0023512  40GSTALLPLVNVRMLDYALMALNR
Celegans  not conserved  D2085.3  50YPCFGTIPICNVPAINFALSWLMR
Xtropicalis  all identical  ENSXETG00000014293  70NVALIDYTLEFLTA
protein features
start (aa)end (aa)featuredetails 
505509COMPBIASPoly-Glu.might get lost (downstream of altered splice site)
525525MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
527527MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
529529MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
532532MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
535535MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
540540MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
543720DOMAINW2.might get lost (downstream of altered splice site)
544544MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
547567HELIXmight get lost (downstream of altered splice site)
571584HELIXmight get lost (downstream of altered splice site)
589602HELIXmight get lost (downstream of altered splice site)
603607HELIXmight get lost (downstream of altered splice site)
614635HELIXmight get lost (downstream of altered splice site)
639655HELIXmight get lost (downstream of altered splice site)
657662HELIXmight get lost (downstream of altered splice site)
663672HELIXmight get lost (downstream of altered splice site)
678685HELIXmight get lost (downstream of altered splice site)
693697HELIXmight get lost (downstream of altered splice site)
701714HELIXmight get lost (downstream of altered splice site)
717717MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
718718MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2166 / 2166
position (AA) of stopcodon in wt / mu AA sequence 722 / 722
position of stopcodon in wt / mu cDNA 2288 / 2288
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 123 / 123
chromosome 3
strand 1
last intron/exon boundary 2229
theoretical NMD boundary in CDS 2056
length of CDS 2166
coding sequence (CDS) position 220
cDNA position
(for ins/del: last normal base / first normal base)
342
gDNA position
(for ins/del: last normal base / first normal base)
1599
chromosomal position
(for ins/del: last normal base / first normal base)
183854424
original gDNA sequence snippet TCTTGCCCCTGGCCAATGTGGCATTAATTGACTACACTCTG
altered gDNA sequence snippet TCTTGCCCCTGGCCAATGTGACATTAATTGACTACACTCTG
original cDNA sequence snippet TCTTGCCCCTGGCCAATGTGGCATTAATTGACTACACTCTG
altered cDNA sequence snippet TCTTGCCCCTGGCCAATGTGACATTAATTGACTACACTCTG
wildtype AA sequence MAAPVVAPPG VVVSRANKRS GAGPGGSGGG GARGAEEEPP PPLQAVLVAD SFDRRFFPIS
KDQPRVLLPL ANVALIDYTL EFLTATGVQE TFVFCCWKAA QIKEHLLKSK WCRPTSLNVV
RIITSELYRS LGDVLRDVDA KALVRSDFLL VYGDVISNIN ITRALEEHRL RRKLEKNVSV
MTMIFKESSP SHPTRCHEDN VVVAVDSTTN RVLHFQKTQG LRRFAFPLSL FQGSSDGVEV
RYDLLDCHIS ICSPQVAQLF TDNFDYQTRD DFVRGLLVNE EILGNQIHMH VTAKEYGARV
SNLHMYSAVC ADVIRRWVYP LTPEANFTDS TTQSCTHSRH NIYRGPEVSL GHGSILEENV
LLGSGTVIGS NCFITNSVIG PGCHIGDNVV LDQTYLWQGV RVAAGAQIHQ SLLCDNAEVK
ERVTLKPRSV LTSQVVVGPN ITLPEGSVIS LHPPDAEEDE DDGEFSDDSG ADQEKDKVKM
KGYNPAEVGA AGKGYLWKAA GMNMEEEEEL QQNLWGLKIN MEEESESESE QSMDSEEPDS
RGGSPQMDDI KVFQNEVLGT LQRGKEENIS CDNLVLEINS LKYAYNISLK EVMQVLSHVV
LEFPLQQMDS PLDSSRYCAL LLPLLKAWSP VFRNYIKRAA DHLEALAAIE DFFLEHEALG
ISMAKVLMAF YQLEILAEET ILSWFSQRDT TDKGQQLRKN QQLQRFIQWL KEAEEESSED
D*
mutated AA sequence MAAPVVAPPG VVVSRANKRS GAGPGGSGGG GARGAEEEPP PPLQAVLVAD SFDRRFFPIS
KDQPRVLLPL ANVTLIDYTL EFLTATGVQE TFVFCCWKAA QIKEHLLKSK WCRPTSLNVV
RIITSELYRS LGDVLRDVDA KALVRSDFLL VYGDVISNIN ITRALEEHRL RRKLEKNVSV
MTMIFKESSP SHPTRCHEDN VVVAVDSTTN RVLHFQKTQG LRRFAFPLSL FQGSSDGVEV
RYDLLDCHIS ICSPQVAQLF TDNFDYQTRD DFVRGLLVNE EILGNQIHMH VTAKEYGARV
SNLHMYSAVC ADVIRRWVYP LTPEANFTDS TTQSCTHSRH NIYRGPEVSL GHGSILEENV
LLGSGTVIGS NCFITNSVIG PGCHIGDNVV LDQTYLWQGV RVAAGAQIHQ SLLCDNAEVK
ERVTLKPRSV LTSQVVVGPN ITLPEGSVIS LHPPDAEEDE DDGEFSDDSG ADQEKDKVKM
KGYNPAEVGA AGKGYLWKAA GMNMEEEEEL QQNLWGLKIN MEEESESESE QSMDSEEPDS
RGGSPQMDDI KVFQNEVLGT LQRGKEENIS CDNLVLEINS LKYAYNISLK EVMQVLSHVV
LEFPLQQMDS PLDSSRYCAL LLPLLKAWSP VFRNYIKRAA DHLEALAAIE DFFLEHEALG
ISMAKVLMAF YQLEILAEET ILSWFSQRDT TDKGQQLRKN QQLQRFIQWL KEAEEESSED
D*
speed 1.27 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: 0.999992742316455      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM051469)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:183854424G>AN/A show variant in all transcripts   IGV
HGNC symbol EIF2B5
Ensembl transcript ID ENST00000444495
Genbank transcript ID N/A
UniProt peptide Q13144
alteration type single base exchange
alteration region CDS
DNA changes c.220G>A
cDNA.230G>A
g.1599G>A
AA changes A74T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
74
frameshift no
known variant Reference ID: rs113994046
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM051469)

known disease mutation at this position, please check HGMD for details (HGMD ID CM051469)
known disease mutation at this position, please check HGMD for details (HGMD ID CM051469)
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K23ac, Histone, Histone 3 Lysine 23 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4111
3.1061
(flanking)6.131
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased1593wt: 0.8137 / mu: 0.8466 (marginal change - not scored)wt: AGGTCCTCTTGCCCCTGGCCAATGTGGCATTAATTGACTAC
mu: AGGTCCTCTTGCCCCTGGCCAATGTGACATTAATTGACTAC
 gcca|ATGT
Donor marginally increased1590wt: 0.4004 / mu: 0.4084 (marginal change - not scored)wt: CCCTGGCCAATGTGG
mu: CCCTGGCCAATGTGA
 CTGG|ccaa
Donor gained15950.53mu: GCCAATGTGACATTA CAAT|gtga
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      74QPRVLLPLANVALIDYTLEFLTAT
mutated  not conserved    74QPRVLLPLANVTLIDYTLEFLTA
Ptroglodytes  all identical  ENSPTRG00000015679  74QPRVLLPLANVALIDYTLEFLTA
Mmulatta  all identical  ENSMMUG00000006562  74QPRVLLPLANVALIDYTLEFLTA
Fcatus  all identical  ENSFCAG00000007787  74QPRVLLPLANVALIDYTLEFLTA
Mmusculus  all identical  ENSMUSG00000003235  70QPRVLLPLANVALIDYTLEFLTA
Ggallus  all identical  ENSGALG00000008376  58RPRALLPMANVAMIDY
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000074995  56QPRALLPLANVSMIDYTLEFLTS
Dmelanogaster  not conserved  FBgn0023512  40GSTALLPLVNVRMLDYALMALNR
Celegans  not conserved  D2085.3  50YPCFGTIPICNVPAINFALSWLMR
Xtropicalis  all identical  ENSXETG00000014293  70NVALIDYTLEFLTA
protein features
start (aa)end (aa)featuredetails 
505509COMPBIASPoly-Glu.might get lost (downstream of altered splice site)
525525MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
527527MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
529529MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
532532MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
535535MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
540540MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
543720DOMAINW2.might get lost (downstream of altered splice site)
544544MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
547567HELIXmight get lost (downstream of altered splice site)
571584HELIXmight get lost (downstream of altered splice site)
589602HELIXmight get lost (downstream of altered splice site)
603607HELIXmight get lost (downstream of altered splice site)
614635HELIXmight get lost (downstream of altered splice site)
639655HELIXmight get lost (downstream of altered splice site)
657662HELIXmight get lost (downstream of altered splice site)
663672HELIXmight get lost (downstream of altered splice site)
678685HELIXmight get lost (downstream of altered splice site)
693697HELIXmight get lost (downstream of altered splice site)
701714HELIXmight get lost (downstream of altered splice site)
717717MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
718718MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2118 / 2118
position (AA) of stopcodon in wt / mu AA sequence 706 / 706
position of stopcodon in wt / mu cDNA 2128 / 2128
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 11 / 11
chromosome 3
strand 1
last intron/exon boundary 2117
theoretical NMD boundary in CDS 2056
length of CDS 2118
coding sequence (CDS) position 220
cDNA position
(for ins/del: last normal base / first normal base)
230
gDNA position
(for ins/del: last normal base / first normal base)
1599
chromosomal position
(for ins/del: last normal base / first normal base)
183854424
original gDNA sequence snippet TCTTGCCCCTGGCCAATGTGGCATTAATTGACTACACTCTG
altered gDNA sequence snippet TCTTGCCCCTGGCCAATGTGACATTAATTGACTACACTCTG
original cDNA sequence snippet TCTTGCCCCTGGCCAATGTGGCATTAATTGACTACACTCTG
altered cDNA sequence snippet TCTTGCCCCTGGCCAATGTGACATTAATTGACTACACTCTG
wildtype AA sequence MAAPVVAPPG VVVSRANKRS GAGPGGSGGG GARGAEEEPP PPLQAVLVAD SFDRRFFPIS
KDQPRVLLPL ANVALIDYTL EFLTATGVQE TFVFCCWKAA QIKEHLLKSK WCRPTSLNVV
RIITSELYRS LGDVLRDVDA KALVRSDFLL VYGDVISNIN ITRALEEHRL RRKLEKNVSV
MTMIFKESSP SHPTRCHEDN VVVAVDSTTN RVLHFQKTQG LRRFAFPLSL FQGSSDGVEV
RYDLLDCHIS ICSPQVAQLF TDNFDYQTRD DFVRGLLVNE EILGNQIHMH VTAKEYGARV
SNLHMYSAVC ADVIRRWVYP LTPEANFTDS TTQSCTHSRH NIYRGPEVSL GHGSILEENV
LLGSGTVIGS NCFITNSVIG PGCHIGDNVV LDQTYLWQGV RVAAGAQIHQ SLLCDNAEVK
ERVTLKPRSV LTSQVVVGPN ITLPEGSVIS LHPPDAEEDE DDGEFSDDSG ADQEKDKVKM
KGYNPAEVGA AGKGYLWKAA GMNMEEEEEL QQNLWGLKIN MEEESESESE QSMDSEEPDS
RGGSPQMDDI KVFQNEVLGT LQRGKEENIS CDNLVLEINS LKYAYNISLK EVMQVLSHVV
LEFPLQQMDS PLDSSRYCAL LLPLLKAWSP VFRNYIKRAA DHLEALAAIE DFFLEHEALG
ISMAKVLMAF YQLEILAEET ILSWFSQRDT TDKGQQLRKN QQVVC*
mutated AA sequence MAAPVVAPPG VVVSRANKRS GAGPGGSGGG GARGAEEEPP PPLQAVLVAD SFDRRFFPIS
KDQPRVLLPL ANVTLIDYTL EFLTATGVQE TFVFCCWKAA QIKEHLLKSK WCRPTSLNVV
RIITSELYRS LGDVLRDVDA KALVRSDFLL VYGDVISNIN ITRALEEHRL RRKLEKNVSV
MTMIFKESSP SHPTRCHEDN VVVAVDSTTN RVLHFQKTQG LRRFAFPLSL FQGSSDGVEV
RYDLLDCHIS ICSPQVAQLF TDNFDYQTRD DFVRGLLVNE EILGNQIHMH VTAKEYGARV
SNLHMYSAVC ADVIRRWVYP LTPEANFTDS TTQSCTHSRH NIYRGPEVSL GHGSILEENV
LLGSGTVIGS NCFITNSVIG PGCHIGDNVV LDQTYLWQGV RVAAGAQIHQ SLLCDNAEVK
ERVTLKPRSV LTSQVVVGPN ITLPEGSVIS LHPPDAEEDE DDGEFSDDSG ADQEKDKVKM
KGYNPAEVGA AGKGYLWKAA GMNMEEEEEL QQNLWGLKIN MEEESESESE QSMDSEEPDS
RGGSPQMDDI KVFQNEVLGT LQRGKEENIS CDNLVLEINS LKYAYNISLK EVMQVLSHVV
LEFPLQQMDS PLDSSRYCAL LLPLLKAWSP VFRNYIKRAA DHLEALAAIE DFFLEHEALG
ISMAKVLMAF YQLEILAEET ILSWFSQRDT TDKGQQLRKN QQVVC*
speed 2.46 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