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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000403799
Querying Taster for transcript #2: ENST00000395796
Querying Taster for transcript #3: ENST00000345378
Querying Taster for transcript #4: ENST00000437084
MT speed 0 s - this script 5.61442 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
GCKdisease_causing_automatic0.999999979727835simple_aae0S131Psingle base exchangers104894010show file
GCKdisease_causing_automatic0.999999979727835simple_aae0S130Psingle base exchangers104894010show file
GCKdisease_causing_automatic0.999999979727835simple_aae0S132Psingle base exchangers104894010show file
GCKdisease_causing_automatic1without_aae0single base exchangers104894010show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999979727835 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM930296)
  • known disease mutation: rs16138 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:44190647A>GN/A show variant in all transcripts   IGV
HGNC symbol GCK
Ensembl transcript ID ENST00000403799
Genbank transcript ID NM_000162
UniProt peptide P35557
alteration type single base exchange
alteration region CDS
DNA changes c.391T>C
cDNA.861T>C
g.47123T>C
AA changes S131P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 131
frameshift no
known variant Reference ID: rs104894010
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs16138 (pathogenic for Maturity-onset diabetes of the young, type 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM930296)

known disease mutation at this position, please check HGMD for details (HGMD ID CM930296)
known disease mutation at this position, please check HGMD for details (HGMD ID CM930296)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.8141
4.81
(flanking)0.9251
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 increased47115wt: 0.6246 / mu: 0.6449 (marginal change - not scored)wt: GCTCTTCGACTACATCTCTGAGTGCATCTCCGACTTCCTGG
mu: GCTCTTCGACTACATCTCTGAGTGCATCCCCGACTTCCTGG		 ctga|GTGC
distance from splice site 28
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      131EMLFDYISECISDFLDKHQMKHKK
mutated  not conserved    131MLFDYISECIPDFLDKHQMKHK
Ptroglodytes  all identical  ENSPTRG00000019140  130EMLFDYISECISDFL
Mmulatta  all identical  ENSMMUG00000002427  132EMLFDYISECISDFLD
Fcatus  not conserved  ENSFCAG00000014361  116XXXXXXXXXXXXXFLDK
Mmusculus  all identical  ENSMUSG00000041798  131MLFDYISECISDFLDKHQMKHK
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000068006  141EMLFDYIAGCISDFLD
Dmelanogaster  all identical  FBgn0001186  206HIAECLSNFMAEHNVYKE
Celegans  all conserved  F14B4.2  153EALFDHIAGCMAKFMGENDLKDA
Xtropicalis  all identical  ENSXETG00000019003  131YIAECISDYLDQQNMKHK
protein features
start (aa)end (aa)featuredetails 
119136HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1398 / 1398
position (AA) of stopcodon in wt / mu AA sequence 466 / 466
position of stopcodon in wt / mu cDNA 1868 / 1868
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 471 / 471
chromosome 7
strand -1
last intron/exon boundary 1724
theoretical NMD boundary in CDS 1203
length of CDS 1398
coding sequence (CDS) position 391
cDNA position
(for ins/del: last normal base / first normal base)		 861
gDNA position
(for ins/del: last normal base / first normal base)		 47123
chromosomal position
(for ins/del: last normal base / first normal base)		 44190647
original gDNA sequence snippet ACTACATCTCTGAGTGCATCTCCGACTTCCTGGACAAGCAT
altered gDNA sequence snippet ACTACATCTCTGAGTGCATCCCCGACTTCCTGGACAAGCAT
original cDNA sequence snippet ACTACATCTCTGAGTGCATCTCCGACTTCCTGGACAAGCAT
altered cDNA sequence snippet ACTACATCTCTGAGTGCATCCCCGACTTCCTGGACAAGCAT
wildtype AA sequence MLDDRARMEA AKKEKVEQIL AEFQLQEEDL KKVMRRMQKE MDRGLRLETH EEASVKMLPT
YVRSTPEGSE VGDFLSLDLG GTNFRVMLVK VGEGEEGQWS VKTKHQMYSI PEDAMTGTAE
MLFDYISECI SDFLDKHQMK HKKLPLGFTF SFPVRHEDID KGILLNWTKG FKASGAEGNN
VVGLLRDAIK RRGDFEMDVV AMVNDTVATM ISCYYEDHQC EVGMIVGTGC NACYMEEMQN
VELVEGDEGR MCVNTEWGAF GDSGELDEFL LEYDRLVDES SANPGQQLYE KLIGGKYMGE
LVRLVLLRLV DENLLFHGEA SEQLRTRGAF ETRFVSQVES DTGDRKQIYN ILSTLGLRPS
TTDCDIVRRA CESVSTRAAH MCSAGLAGVI NRMRESRSED VMRITVGVDG SVYKLHPSFK
ERFHASVRRL TPSCEITFIE SEEGSGRGAA LVSAVACKKA CMLGQ*
mutated AA sequence MLDDRARMEA AKKEKVEQIL AEFQLQEEDL KKVMRRMQKE MDRGLRLETH EEASVKMLPT
YVRSTPEGSE VGDFLSLDLG GTNFRVMLVK VGEGEEGQWS VKTKHQMYSI PEDAMTGTAE
MLFDYISECI PDFLDKHQMK HKKLPLGFTF SFPVRHEDID KGILLNWTKG FKASGAEGNN
VVGLLRDAIK RRGDFEMDVV AMVNDTVATM ISCYYEDHQC EVGMIVGTGC NACYMEEMQN
VELVEGDEGR MCVNTEWGAF GDSGELDEFL LEYDRLVDES SANPGQQLYE KLIGGKYMGE
LVRLVLLRLV DENLLFHGEA SEQLRTRGAF ETRFVSQVES DTGDRKQIYN ILSTLGLRPS
TTDCDIVRRA CESVSTRAAH MCSAGLAGVI NRMRESRSED VMRITVGVDG SVYKLHPSFK
ERFHASVRRL TPSCEITFIE SEEGSGRGAA LVSAVACKKA CMLGQ*
speed 1.30 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: 0.999999979727835 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM930296)
  • known disease mutation: rs16138 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:44190647A>GN/A show variant in all transcripts   IGV
HGNC symbol GCK
Ensembl transcript ID ENST00000395796
Genbank transcript ID NM_033508
UniProt peptide P35557
alteration type single base exchange
alteration region CDS
DNA changes c.388T>C
cDNA.673T>C
g.47123T>C
AA changes S130P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 130
frameshift no
known variant Reference ID: rs104894010
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs16138 (pathogenic for Maturity-onset diabetes of the young, type 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM930296)

known disease mutation at this position, please check HGMD for details (HGMD ID CM930296)
known disease mutation at this position, please check HGMD for details (HGMD ID CM930296)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.8141
4.81
(flanking)0.9251
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 increased47115wt: 0.6246 / mu: 0.6449 (marginal change - not scored)wt: GCTCTTCGACTACATCTCTGAGTGCATCTCCGACTTCCTGG
mu: GCTCTTCGACTACATCTCTGAGTGCATCCCCGACTTCCTGG		 ctga|GTGC
distance from splice site 28
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      130EMLFDYISECISDFLDKHQMKHKK
mutated  not conserved    130LFDYISECIPDFLDKHQMKHK
Ptroglodytes  all identical  ENSPTRG00000019140  130LFDYISECISDFLDKHQMKHK
Mmulatta  all identical  ENSMMUG00000002427  132LFDYISECISDFLDKHQMKHK
Fcatus  not conserved  ENSFCAG00000014361  116XXXXXXXXXXXXXFLDK
Mmusculus  all identical  ENSMUSG00000041798  131EMLFDYISECISDFLD
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000068006  141EMLFDYIAGCISDFLD
Dmelanogaster  all identical  FBgn0001186  206SNFMAEHNVYKE
Celegans  all conserved  F14B4.2  148HIAGCMAKFMGENDLKDAQ
Xtropicalis  all identical  ENSXETG00000019003  131EMLFDYIAECISDY
protein features
start (aa)end (aa)featuredetails 
119136HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1395 / 1395
position (AA) of stopcodon in wt / mu AA sequence 465 / 465
position of stopcodon in wt / mu cDNA 1680 / 1680
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 286 / 286
chromosome 7
strand -1
last intron/exon boundary 1536
theoretical NMD boundary in CDS 1200
length of CDS 1395
coding sequence (CDS) position 388
cDNA position
(for ins/del: last normal base / first normal base)		 673
gDNA position
(for ins/del: last normal base / first normal base)		 47123
chromosomal position
(for ins/del: last normal base / first normal base)		 44190647
original gDNA sequence snippet ACTACATCTCTGAGTGCATCTCCGACTTCCTGGACAAGCAT
altered gDNA sequence snippet ACTACATCTCTGAGTGCATCCCCGACTTCCTGGACAAGCAT
original cDNA sequence snippet ACTACATCTCTGAGTGCATCTCCGACTTCCTGGACAAGCAT
altered cDNA sequence snippet ACTACATCTCTGAGTGCATCCCCGACTTCCTGGACAAGCAT
wildtype AA sequence MPRPRSQLPQ PNSQVEQILA EFQLQEEDLK KVMRRMQKEM DRGLRLETHE EASVKMLPTY
VRSTPEGSEV GDFLSLDLGG TNFRVMLVKV GEGEEGQWSV KTKHQMYSIP EDAMTGTAEM
LFDYISECIS DFLDKHQMKH KKLPLGFTFS FPVRHEDIDK GILLNWTKGF KASGAEGNNV
VGLLRDAIKR RGDFEMDVVA MVNDTVATMI SCYYEDHQCE VGMIVGTGCN ACYMEEMQNV
ELVEGDEGRM CVNTEWGAFG DSGELDEFLL EYDRLVDESS ANPGQQLYEK LIGGKYMGEL
VRLVLLRLVD ENLLFHGEAS EQLRTRGAFE TRFVSQVESD TGDRKQIYNI LSTLGLRPST
TDCDIVRRAC ESVSTRAAHM CSAGLAGVIN RMRESRSEDV MRITVGVDGS VYKLHPSFKE
RFHASVRRLT PSCEITFIES EEGSGRGAAL VSAVACKKAC MLGQ*
mutated AA sequence MPRPRSQLPQ PNSQVEQILA EFQLQEEDLK KVMRRMQKEM DRGLRLETHE EASVKMLPTY
VRSTPEGSEV GDFLSLDLGG TNFRVMLVKV GEGEEGQWSV KTKHQMYSIP EDAMTGTAEM
LFDYISECIP DFLDKHQMKH KKLPLGFTFS FPVRHEDIDK GILLNWTKGF KASGAEGNNV
VGLLRDAIKR RGDFEMDVVA MVNDTVATMI SCYYEDHQCE VGMIVGTGCN ACYMEEMQNV
ELVEGDEGRM CVNTEWGAFG DSGELDEFLL EYDRLVDESS ANPGQQLYEK LIGGKYMGEL
VRLVLLRLVD ENLLFHGEAS EQLRTRGAFE TRFVSQVESD TGDRKQIYNI LSTLGLRPST
TDCDIVRRAC ESVSTRAAHM CSAGLAGVIN RMRESRSEDV MRITVGVDGS VYKLHPSFKE
RFHASVRRLT PSCEITFIES EEGSGRGAAL VSAVACKKAC MLGQ*
speed 0.50 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999979727835 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM930296)
  • known disease mutation: rs16138 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:44190647A>GN/A show variant in all transcripts   IGV
HGNC symbol GCK
Ensembl transcript ID ENST00000345378
Genbank transcript ID NM_033507
UniProt peptide P35557
alteration type single base exchange
alteration region CDS
DNA changes c.394T>C
cDNA.556T>C
g.47123T>C
AA changes S132P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 132
frameshift no
known variant Reference ID: rs104894010
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs16138 (pathogenic for Maturity-onset diabetes of the young, type 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM930296)

known disease mutation at this position, please check HGMD for details (HGMD ID CM930296)
known disease mutation at this position, please check HGMD for details (HGMD ID CM930296)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.8141
4.81
(flanking)0.9251
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 increased47115wt: 0.6246 / mu: 0.6449 (marginal change - not scored)wt: GCTCTTCGACTACATCTCTGAGTGCATCTCCGACTTCCTGG
mu: GCTCTTCGACTACATCTCTGAGTGCATCCCCGACTTCCTGG		 ctga|GTGC
distance from splice site 28
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      132EMLFDYISECISDFLDKHQMKHKK
mutated  not conserved    132EMLFDYISECIPDFLDKHQMKHK
Ptroglodytes  all identical  ENSPTRG00000019140  130ISECISDFLDKHQMKHK
Mmulatta  all identical  ENSMMUG00000002427  132EMLFDYISECISDFLDKHQMKHK
Fcatus  not conserved  ENSFCAG00000014361  116XXXXXXXXXXXXXFLDK
Mmusculus  all identical  ENSMUSG00000041798  131EMLFDYISECISDFLDKHQMKHK
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000068006  141EMLFDYIAGCISDFLDKHNLKHK
Dmelanogaster  all identical  FBgn0001186  210TQLFDHIAECLSNFM
Celegans  all conserved  F14B4.2  153EALFDHIAGCMAKFM
Xtropicalis  all identical  ENSXETG00000019003  131EMLFDYIAECISDYLD
protein features
start (aa)end (aa)featuredetails 
119136HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1401 / 1401
position (AA) of stopcodon in wt / mu AA sequence 467 / 467
position of stopcodon in wt / mu cDNA 1563 / 1563
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 163 / 163
chromosome 7
strand -1
last intron/exon boundary 1419
theoretical NMD boundary in CDS 1206
length of CDS 1401
coding sequence (CDS) position 394
cDNA position
(for ins/del: last normal base / first normal base)		 556
gDNA position
(for ins/del: last normal base / first normal base)		 47123
chromosomal position
(for ins/del: last normal base / first normal base)		 44190647
original gDNA sequence snippet ACTACATCTCTGAGTGCATCTCCGACTTCCTGGACAAGCAT
altered gDNA sequence snippet ACTACATCTCTGAGTGCATCCCCGACTTCCTGGACAAGCAT
original cDNA sequence snippet ACTACATCTCTGAGTGCATCTCCGACTTCCTGGACAAGCAT
altered cDNA sequence snippet ACTACATCTCTGAGTGCATCCCCGACTTCCTGGACAAGCAT
wildtype AA sequence MAMDVTRSQA QTALTLVEQI LAEFQLQEED LKKVMRRMQK EMDRGLRLET HEEASVKMLP
TYVRSTPEGS EVGDFLSLDL GGTNFRVMLV KVGEGEEGQW SVKTKHQMYS IPEDAMTGTA
EMLFDYISEC ISDFLDKHQM KHKKLPLGFT FSFPVRHEDI DKGILLNWTK GFKASGAEGN
NVVGLLRDAI KRRGDFEMDV VAMVNDTVAT MISCYYEDHQ CEVGMIVGTG CNACYMEEMQ
NVELVEGDEG RMCVNTEWGA FGDSGELDEF LLEYDRLVDE SSANPGQQLY EKLIGGKYMG
ELVRLVLLRL VDENLLFHGE ASEQLRTRGA FETRFVSQVE SDTGDRKQIY NILSTLGLRP
STTDCDIVRR ACESVSTRAA HMCSAGLAGV INRMRESRSE DVMRITVGVD GSVYKLHPSF
KERFHASVRR LTPSCEITFI ESEEGSGRGA ALVSAVACKK ACMLGQ*
mutated AA sequence MAMDVTRSQA QTALTLVEQI LAEFQLQEED LKKVMRRMQK EMDRGLRLET HEEASVKMLP
TYVRSTPEGS EVGDFLSLDL GGTNFRVMLV KVGEGEEGQW SVKTKHQMYS IPEDAMTGTA
EMLFDYISEC IPDFLDKHQM KHKKLPLGFT FSFPVRHEDI DKGILLNWTK GFKASGAEGN
NVVGLLRDAI KRRGDFEMDV VAMVNDTVAT MISCYYEDHQ CEVGMIVGTG CNACYMEEMQ
NVELVEGDEG RMCVNTEWGA FGDSGELDEF LLEYDRLVDE SSANPGQQLY EKLIGGKYMG
ELVRLVLLRL VDENLLFHGE ASEQLRTRGA FETRFVSQVE SDTGDRKQIY NILSTLGLRP
STTDCDIVRR ACESVSTRAA HMCSAGLAGV INRMRESRSE DVMRITVGVD GSVYKLHPSF
KERFHASVRR LTPSCEITFI ESEEGSGRGA ALVSAVACKK ACMLGQ*
speed 1.26 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM930296)
  • known disease mutation: rs16138 (pathogenic)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:44190647A>GN/A show variant in all transcripts   IGV
HGNC symbol GCK
Ensembl transcript ID ENST00000437084
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.47123T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs104894010
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs16138 (pathogenic for Maturity-onset diabetes of the young, type 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM930296)

known disease mutation at this position, please check HGMD for details (HGMD ID CM930296)
known disease mutation at this position, please check HGMD for details (HGMD ID CM930296)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.8141
4.81
(flanking)0.9251
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 increased47115wt: 0.6246 / mu: 0.6449 (marginal change - not scored)wt: GCTCTTCGACTACATCTCTGAGTGCATCTCCGACTTCCTGG
mu: GCTCTTCGACTACATCTCTGAGTGCATCCCCGACTTCCTGG		 ctga|GTGC
distance from splice site 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 35 / 35
chromosome 7
strand -1
last intron/exon boundary 1237
theoretical NMD boundary in CDS 1152
length of CDS 1347
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 47123
chromosomal position
(for ins/del: last normal base / first normal base)		 44190647
original gDNA sequence snippet ACTACATCTCTGAGTGCATCTCCGACTTCCTGGACAAGCAT
altered gDNA sequence snippet ACTACATCTCTGAGTGCATCCCCGACTTCCTGGACAAGCAT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MLDDRARMEA AKKEKVEQIL AEFQLQEEDL KKVMRRMQKE MDRGLRLETH EEASVKMLPT
YVRSTPEGSE VGDFLSLDLG GTNFRVMLVK VGEGEEGQWS VKTKHQMYSI PEDAMTGTAE
MMKHKKLPLG FTFSFPVRHE DIDKGILLNW TKGFKASGAE GNNVVGLLRD AIKRRGDFEM
DVVAMVNDTV ATMISCYYED HQCEVGMIVG TGCNACYMEE MQNVELVEGD EGRMCVNTEW
GAFGDSGELD EFLLEYDRLV DESSANPGQQ LYEKLIGGKY MGELVRLVLL RLVDENLLFH
GEASEQLRTR GAFETRFVSQ VESDTGDRKQ IYNILSTLGL RPSTTDCDIV RRACESVSTR
AAHMCSAGLA GVINRMRESR SEDVMRITVG VDGSVYKLHP SFKERFHASV RRLTPSCEIT
FIESEEGSGR GAALVSAVAC KKACMLGQ*
mutated AA sequence N/A
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

Problems