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: ENST00000421975
Querying Taster for transcript #2: ENST00000314144
Querying Taster for transcript #3: ENST00000436961
MT speed 0 s - this script 3.482944 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CCT6Bpolymorphism_automatic0.999999893117165simple_aaeaffectedV48Asingle base exchangers2230552show file
CCT6Bpolymorphism_automatic0.999999893117165simple_aaeaffectedV48Asingle base exchangers2230552show file
CCT6Bpolymorphism_automatic0.999999893117165simple_aaeaffectedV48Asingle base exchangers2230552show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1.06882835036712e-07 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:33286664A>GN/A show variant in all transcripts   IGV
HGNC symbol CCT6B
Ensembl transcript ID ENST00000421975
Genbank transcript ID NM_001193529
UniProt peptide Q92526
alteration type single base exchange
alteration region CDS
DNA changes c.143T>C
cDNA.152T>C
g.21434T>C
AA changes V48A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 48
frameshift no
known variant Reference ID: rs2230552
databasehomozygous (G/G)heterozygousallele carriers
1000G2749091183
ExAC43332097825311
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8021
3.8311
(flanking)3.1021
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased21426wt: 0.45 / mu: 0.56wt: TAATATCATTCTTCTCTGAACAGGCTTGTTTCTGGTGCAGG
mu: TAATATCATTCTTCTCTGAACAGGCTTGCTTCTGGTGCAGG		 gaac|AGGC
Acc marginally increased21428wt: 0.7441 / mu: 0.8133 (marginal change - not scored)wt: ATATCATTCTTCTCTGAACAGGCTTGTTTCTGGTGCAGGTG
mu: ATATCATTCTTCTCTGAACAGGCTTGCTTCTGGTGCAGGTG		 acag|GCTT
Acc marginally increased21427wt: 0.7357 / mu: 0.7651 (marginal change - not scored)wt: AATATCATTCTTCTCTGAACAGGCTTGTTTCTGGTGCAGGT
mu: AATATCATTCTTCTCTGAACAGGCTTGCTTCTGGTGCAGGT		 aaca|GGCT
Donor increased21439wt: 0.22 / mu: 0.34wt: TTTCTGGTGCAGGTG
mu: CTTCTGGTGCAGGTG		 TCTG|gtgc
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      48NLGPKGTMKMLVSGAGDIKLTKDG
mutated  not conserved    48NLGPKGTMKMLASGAGDIKLTKD
Ptroglodytes  all identical  ENSPTRG00000023221  48NLGPKGTMKMLVSGAGDIKLTKD
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000020698  48TLGPKGALKMLVSGAGDIKLTKD
Ggallus  all identical  ENSGALG00000002448  47NLGPKGTMKMLVSGAGDIKLTKD
Trubripes  all identical  ENSTRUG00000010228  48NLGPKGTLKMLVSGAGDIKLTKD
Drerio  all identical  ENSDARG00000021252  48NLGPKGTMKMLVSGAGDIKLTKD
Dmelanogaster  all identical  FBgn0027329  48NLGPKGTVKMLVSGAGDIKITKD
Celegans  all identical  F01F1.8  48NLGPKGTLKMLVSGAGDIKLTKD
Xtropicalis  all identical  ENSXETG00000010077  48NLGPKGTMKMLVSGAGDIKLTKD
protein features
start (aa)end (aa)featuredetails 
8686CONFLICTD -> G (in Ref. 1; BAA11347).might get lost (downstream of altered splice site)
9494CONFLICTS -> T (in Ref. 1; BAA11347).might get lost (downstream of altered splice site)
176178CONFLICTVLA -> LFP (in Ref. 1; BAA11347).might get lost (downstream of altered splice site)
183183CONFLICTG -> P (in Ref. 1; BAA11347).might get lost (downstream of altered splice site)
295295MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
529530CONFLICTLK -> QMMIEFKINPSRR (in Ref. 1; BAA11347).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1482 / 1482
position (AA) of stopcodon in wt / mu AA sequence 494 / 494
position of stopcodon in wt / mu cDNA 1491 / 1491
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 10 / 10
chromosome 17
strand -1
last intron/exon boundary 1422
theoretical NMD boundary in CDS 1362
length of CDS 1482
coding sequence (CDS) position 143
cDNA position
(for ins/del: last normal base / first normal base)		 152
gDNA position
(for ins/del: last normal base / first normal base)		 21434
chromosomal position
(for ins/del: last normal base / first normal base)		 33286664
original gDNA sequence snippet TTCTTCTCTGAACAGGCTTGTTTCTGGTGCAGGTGACATCA
altered gDNA sequence snippet TTCTTCTCTGAACAGGCTTGCTTCTGGTGCAGGTGACATCA
original cDNA sequence snippet AGGCACCATGAAAATGCTTGTTTCTGGTGCAGGTGACATCA
altered cDNA sequence snippet AGGCACCATGAAAATGCTTGCTTCTGGTGCAGGTGACATCA
wildtype AA sequence MAAIKAVNSK AEVARARAAL AVNICAARGL QDVLRTNLGP KGTMKMLVSG AGDIKLTKDG
NVLLDEMQIQ HPTASLIAKV ATAQDDVTGD GTTSNVLIIG ELLKQADLYI SEGLHPRIIA
EGFEAAKIKA LEVLEEVKVT KEMKRKILLD VARTSLQTKV HAELADVLTE VVVDSVLAVR
RPGYPIDLFM VEIMEMKHKL GTDTKEVNSG FFYKTAEEKE KLVKAERKFI EDRVQKIIDL
KDKVCAQSNK GFVVINQKGI DPFSLDSLAK HGIVALRRAK RRNMERLSLA CGGMAVNSFE
DLTVDCLGHA GLVYEYTLGE EKFTFIEECV NPCSVTLLVK GPNKHTLTQV KDAIRDGLRA
IKNAIEDGCM VPGAGAIEVA MAEALVTYKN SIKGRARLGV QAFADALLII PKVLAQNAGY
DPQETLVKVQ AEHVESKQLV GVDLNTGEPM VAADAGVWDN YCVKKQLLHS CTVIATNILL
VDEIMRAGMS SLK*
mutated AA sequence MAAIKAVNSK AEVARARAAL AVNICAARGL QDVLRTNLGP KGTMKMLASG AGDIKLTKDG
NVLLDEMQIQ HPTASLIAKV ATAQDDVTGD GTTSNVLIIG ELLKQADLYI SEGLHPRIIA
EGFEAAKIKA LEVLEEVKVT KEMKRKILLD VARTSLQTKV HAELADVLTE VVVDSVLAVR
RPGYPIDLFM VEIMEMKHKL GTDTKEVNSG FFYKTAEEKE KLVKAERKFI EDRVQKIIDL
KDKVCAQSNK GFVVINQKGI DPFSLDSLAK HGIVALRRAK RRNMERLSLA CGGMAVNSFE
DLTVDCLGHA GLVYEYTLGE EKFTFIEECV NPCSVTLLVK GPNKHTLTQV KDAIRDGLRA
IKNAIEDGCM VPGAGAIEVA MAEALVTYKN SIKGRARLGV QAFADALLII PKVLAQNAGY
DPQETLVKVQ AEHVESKQLV GVDLNTGEPM VAADAGVWDN YCVKKQLLHS CTVIATNILL
VDEIMRAGMS SLK*
speed 1.05 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

polymorphism

 Model: simple_aae, prob: 1.06882835036712e-07 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:33286664A>GN/A show variant in all transcripts   IGV
HGNC symbol CCT6B
Ensembl transcript ID ENST00000314144
Genbank transcript ID NM_006584
UniProt peptide Q92526
alteration type single base exchange
alteration region CDS
DNA changes c.143T>C
cDNA.259T>C
g.21434T>C
AA changes V48A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 48
frameshift no
known variant Reference ID: rs2230552
databasehomozygous (G/G)heterozygousallele carriers
1000G2749091183
ExAC43332097825311
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8021
3.8311
(flanking)3.1021
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased21426wt: 0.45 / mu: 0.56wt: TAATATCATTCTTCTCTGAACAGGCTTGTTTCTGGTGCAGG
mu: TAATATCATTCTTCTCTGAACAGGCTTGCTTCTGGTGCAGG		 gaac|AGGC
Acc marginally increased21428wt: 0.7441 / mu: 0.8133 (marginal change - not scored)wt: ATATCATTCTTCTCTGAACAGGCTTGTTTCTGGTGCAGGTG
mu: ATATCATTCTTCTCTGAACAGGCTTGCTTCTGGTGCAGGTG		 acag|GCTT
Acc marginally increased21427wt: 0.7357 / mu: 0.7651 (marginal change - not scored)wt: AATATCATTCTTCTCTGAACAGGCTTGTTTCTGGTGCAGGT
mu: AATATCATTCTTCTCTGAACAGGCTTGCTTCTGGTGCAGGT		 aaca|GGCT
Donor increased21439wt: 0.22 / mu: 0.34wt: TTTCTGGTGCAGGTG
mu: CTTCTGGTGCAGGTG		 TCTG|gtgc
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      48NLGPKGTMKMLVSGAGDIKLTKDG
mutated  not conserved    48NLGPKGTMKMLASGAGDIKLTKD
Ptroglodytes  all identical  ENSPTRG00000023221  48NLGPKGTMKMLVSGAGDIKLTKD
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000020698  48TLGPKGALKMLVSGAGDIKLTKD
Ggallus  all identical  ENSGALG00000002448  47NLGPKGTMKMLVSGAGDIKLTKD
Trubripes  all identical  ENSTRUG00000010228  48NLGPKGTLKMLVSGAGDIKLTKD
Drerio  all identical  ENSDARG00000021252  48NLGPKGTMKMLVSGAGDIKLTKD
Dmelanogaster  all identical  FBgn0027329  48NLGPKGTVKMLVSGAGDIKITKD
Celegans  all identical  F01F1.8  48NLGPKGTLKMLVSGAGDIKLTKD
Xtropicalis  all identical  ENSXETG00000010077  48NLGPKGTMKMLVSGAGDIKLTKD
protein features
start (aa)end (aa)featuredetails 
8686CONFLICTD -> G (in Ref. 1; BAA11347).might get lost (downstream of altered splice site)
9494CONFLICTS -> T (in Ref. 1; BAA11347).might get lost (downstream of altered splice site)
176178CONFLICTVLA -> LFP (in Ref. 1; BAA11347).might get lost (downstream of altered splice site)
183183CONFLICTG -> P (in Ref. 1; BAA11347).might get lost (downstream of altered splice site)
295295MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
529530CONFLICTLK -> QMMIEFKINPSRR (in Ref. 1; BAA11347).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1593 / 1593
position (AA) of stopcodon in wt / mu AA sequence 531 / 531
position of stopcodon in wt / mu cDNA 1709 / 1709
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 117 / 117
chromosome 17
strand -1
last intron/exon boundary 1640
theoretical NMD boundary in CDS 1473
length of CDS 1593
coding sequence (CDS) position 143
cDNA position
(for ins/del: last normal base / first normal base)		 259
gDNA position
(for ins/del: last normal base / first normal base)		 21434
chromosomal position
(for ins/del: last normal base / first normal base)		 33286664
original gDNA sequence snippet TTCTTCTCTGAACAGGCTTGTTTCTGGTGCAGGTGACATCA
altered gDNA sequence snippet TTCTTCTCTGAACAGGCTTGCTTCTGGTGCAGGTGACATCA
original cDNA sequence snippet AGGCACCATGAAAATGCTTGTTTCTGGTGCAGGTGACATCA
altered cDNA sequence snippet AGGCACCATGAAAATGCTTGCTTCTGGTGCAGGTGACATCA
wildtype AA sequence MAAIKAVNSK AEVARARAAL AVNICAARGL QDVLRTNLGP KGTMKMLVSG AGDIKLTKDG
NVLLDEMQIQ HPTASLIAKV ATAQDDVTGD GTTSNVLIIG ELLKQADLYI SEGLHPRIIA
EGFEAAKIKA LEVLEEVKVT KEMKRKILLD VARTSLQTKV HAELADVLTE VVVDSVLAVR
RPGYPIDLFM VEIMEMKHKL GTDTKLIQGL VLDHGARHPD MKKRVEDAFI LICNVSLEYE
KTEVNSGFFY KTAEEKEKLV KAERKFIEDR VQKIIDLKDK VCAQSNKGFV VINQKGIDPF
SLDSLAKHGI VALRRAKRRN MERLSLACGG MAVNSFEDLT VDCLGHAGLV YEYTLGEEKF
TFIEECVNPC SVTLLVKGPN KHTLTQVKDA IRDGLRAIKN AIEDGCMVPG AGAIEVAMAE
ALVTYKNSIK GRARLGVQAF ADALLIIPKV LAQNAGYDPQ ETLVKVQAEH VESKQLVGVD
LNTGEPMVAA DAGVWDNYCV KKQLLHSCTV IATNILLVDE IMRAGMSSLK *
mutated AA sequence MAAIKAVNSK AEVARARAAL AVNICAARGL QDVLRTNLGP KGTMKMLASG AGDIKLTKDG
NVLLDEMQIQ HPTASLIAKV ATAQDDVTGD GTTSNVLIIG ELLKQADLYI SEGLHPRIIA
EGFEAAKIKA LEVLEEVKVT KEMKRKILLD VARTSLQTKV HAELADVLTE VVVDSVLAVR
RPGYPIDLFM VEIMEMKHKL GTDTKLIQGL VLDHGARHPD MKKRVEDAFI LICNVSLEYE
KTEVNSGFFY KTAEEKEKLV KAERKFIEDR VQKIIDLKDK VCAQSNKGFV VINQKGIDPF
SLDSLAKHGI VALRRAKRRN MERLSLACGG MAVNSFEDLT VDCLGHAGLV YEYTLGEEKF
TFIEECVNPC SVTLLVKGPN KHTLTQVKDA IRDGLRAIKN AIEDGCMVPG AGAIEVAMAE
ALVTYKNSIK GRARLGVQAF ADALLIIPKV LAQNAGYDPQ ETLVKVQAEH VESKQLVGVD
LNTGEPMVAA DAGVWDNYCV KKQLLHSCTV IATNILLVDE IMRAGMSSLK *
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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1.06882835036712e-07 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:33286664A>GN/A show variant in all transcripts   IGV
HGNC symbol CCT6B
Ensembl transcript ID ENST00000436961
Genbank transcript ID NM_001193530
UniProt peptide Q92526
alteration type single base exchange
alteration region CDS
DNA changes c.143T>C
cDNA.208T>C
g.21434T>C
AA changes V48A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 48
frameshift no
known variant Reference ID: rs2230552
databasehomozygous (G/G)heterozygousallele carriers
1000G2749091183
ExAC43332097825311
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8021
3.8311
(flanking)3.1021
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased21426wt: 0.45 / mu: 0.56wt: TAATATCATTCTTCTCTGAACAGGCTTGTTTCTGGTGCAGG
mu: TAATATCATTCTTCTCTGAACAGGCTTGCTTCTGGTGCAGG		 gaac|AGGC
Acc marginally increased21428wt: 0.7441 / mu: 0.8133 (marginal change - not scored)wt: ATATCATTCTTCTCTGAACAGGCTTGTTTCTGGTGCAGGTG
mu: ATATCATTCTTCTCTGAACAGGCTTGCTTCTGGTGCAGGTG		 acag|GCTT
Acc marginally increased21427wt: 0.7357 / mu: 0.7651 (marginal change - not scored)wt: AATATCATTCTTCTCTGAACAGGCTTGTTTCTGGTGCAGGT
mu: AATATCATTCTTCTCTGAACAGGCTTGCTTCTGGTGCAGGT		 aaca|GGCT
Donor increased21439wt: 0.22 / mu: 0.34wt: TTTCTGGTGCAGGTG
mu: CTTCTGGTGCAGGTG		 TCTG|gtgc
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      48NLGPKGTMKMLVSGAGDIKLTKDG
mutated  not conserved    48NLGPKGTMKMLASGAGDIKLTKD
Ptroglodytes  all identical  ENSPTRG00000023221  48NLGPKGTMKMLVSGAGDIKLTKD
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000020698  48TLGPKGALKMLVSGAGDIKLTKD
Ggallus  all identical  ENSGALG00000002448  47NLGPKGTMKMLVSGAGDIKLTKD
Trubripes  all identical  ENSTRUG00000010228  48NLGPKGTLKMLVSGAGDIKLTKD
Drerio  all identical  ENSDARG00000021252  48NLGPKGTMKMLVSGAGDIKLTKD
Dmelanogaster  all identical  FBgn0027329  48NLGPKGTVKMLVSGAGDIKITKD
Celegans  all identical  F01F1.8  48NLGPKGTLKMLVSGAGDIKLTKD
Xtropicalis  all identical  ENSXETG00000010077  48NLGPKGTMKMLVSGAGDIKLTKD
protein features
start (aa)end (aa)featuredetails 
8686CONFLICTD -> G (in Ref. 1; BAA11347).might get lost (downstream of altered splice site)
9494CONFLICTS -> T (in Ref. 1; BAA11347).might get lost (downstream of altered splice site)
176178CONFLICTVLA -> LFP (in Ref. 1; BAA11347).might get lost (downstream of altered splice site)
183183CONFLICTG -> P (in Ref. 1; BAA11347).might get lost (downstream of altered splice site)
295295MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
529530CONFLICTLK -> QMMIEFKINPSRR (in Ref. 1; BAA11347).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1458 / 1458
position (AA) of stopcodon in wt / mu AA sequence 486 / 486
position of stopcodon in wt / mu cDNA 1523 / 1523
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 66 / 66
chromosome 17
strand -1
last intron/exon boundary 1454
theoretical NMD boundary in CDS 1338
length of CDS 1458
coding sequence (CDS) position 143
cDNA position
(for ins/del: last normal base / first normal base)		 208
gDNA position
(for ins/del: last normal base / first normal base)		 21434
chromosomal position
(for ins/del: last normal base / first normal base)		 33286664
original gDNA sequence snippet TTCTTCTCTGAACAGGCTTGTTTCTGGTGCAGGTGACATCA
altered gDNA sequence snippet TTCTTCTCTGAACAGGCTTGCTTCTGGTGCAGGTGACATCA
original cDNA sequence snippet AGGCACCATGAAAATGCTTGTTTCTGGTGCAGGTGACATCA
altered cDNA sequence snippet AGGCACCATGAAAATGCTTGCTTCTGGTGCAGGTGACATCA
wildtype AA sequence MAAIKAVNSK AEVARARAAL AVNICAARGL QDVLRTNLGP KGTMKMLVSG AGDIKLTKDG
NVLLDEMGLH PRIIAEGFEA AKIKALEVLE EVKVTKEMKR KILLDVARTS LQTKVHAELA
DVLTEVVVDS VLAVRRPGYP IDLFMVEIME MKHKLGTDTK LIQGLVLDHG ARHPDMKKRV
EDAFILICNV SLEYEKTEVN SGFFYKTAEE KEKLVKAERK FIEDRVQKII DLKDKVCAQS
NKGFVVINQK GIDPFSLDSL AKHGIVALRR AKRRNMERLS LACGGMAVNS FEDLTVDCLG
HAGLVYEYTL GEEKFTFIEE CVNPCSVTLL VKGPNKHTLT QVKDAIRDGL RAIKNAIEDG
CMVPGAGAIE VAMAEALVTY KNSIKGRARL GVQAFADALL IIPKVLAQNA GYDPQETLVK
VQAEHVESKQ LVGVDLNTGE PMVAADAGVW DNYCVKKQLL HSCTVIATNI LLVDEIMRAG
MSSLK*
mutated AA sequence MAAIKAVNSK AEVARARAAL AVNICAARGL QDVLRTNLGP KGTMKMLASG AGDIKLTKDG
NVLLDEMGLH PRIIAEGFEA AKIKALEVLE EVKVTKEMKR KILLDVARTS LQTKVHAELA
DVLTEVVVDS VLAVRRPGYP IDLFMVEIME MKHKLGTDTK LIQGLVLDHG ARHPDMKKRV
EDAFILICNV SLEYEKTEVN SGFFYKTAEE KEKLVKAERK FIEDRVQKII DLKDKVCAQS
NKGFVVINQK GIDPFSLDSL AKHGIVALRR AKRRNMERLS LACGGMAVNS FEDLTVDCLG
HAGLVYEYTL GEEKFTFIEE CVNPCSVTLL VKGPNKHTLT QVKDAIRDGL RAIKNAIEDG
CMVPGAGAIE VAMAEALVTY KNSIKGRARL GVQAFADALL IIPKVLAQNA GYDPQETLVK
VQAEHVESKQ LVGVDLNTGE PMVAADAGVW DNYCVKKQLL HSCTVIATNI LLVDEIMRAG
MSSLK*
speed 0.26 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

Problems