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: ENST00000388922
Querying Taster for transcript #2: ENST00000550683
Querying Taster for transcript #3: ENST00000419526
MT speed 0 s - this script 3.741044 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ACVRL1disease_causing_automatic0.999999886649383simple_aae0R498Wsingle base exchangers121909288show file
ACVRL1disease_causing_automatic0.999999988799921simple_aae0R484Wsingle base exchangers121909288show file
ACVRL1disease_causing_automatic0.999999988799921simple_aae0R310Wsingle base exchangers121909288show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999886649383 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012328)
  • known disease mutation at this position (HGMD CM147611)
  • known disease mutation at this position (HGMD CX044826)
  • known disease mutation: rs8252 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:52314615C>TN/A show variant in all transcripts   IGV
HGNC symbol ACVRL1
Ensembl transcript ID ENST00000550683
Genbank transcript ID N/A
UniProt peptide P37023
alteration type single base exchange
alteration region CDS
DNA changes c.1492C>T
cDNA.1593C>T
g.13924C>T
AA changes R498W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 498
frameshift no
known variant Reference ID: rs121909288
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8252 (pathogenic for Pulmonary arterial hypertension|Telangiectasia, hereditary hemorrhagic, type 2|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia|not specified) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)

known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)

known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)
known disease mutation at this position, please check HGMD for details (HGMD ID CM147611)

known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)
known disease mutation at this position, please check HGMD for details (HGMD ID CM147611)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)

known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)
known disease mutation at this position, please check HGMD for details (HGMD ID CM147611)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)
known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4891
1.7971
(flanking)5.3651
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 increased13914wt: 0.9160 / mu: 0.9243 (marginal change - not scored)wt: CCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAA
mu: CCAAACCCCTCTGCCCGACTCACCGCGCTGTGGATCAAGAA		 actc|ACCG
distance from splice site 73
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      498YPNPSARLTALRIKKTLQKISNSP
mutated  not conserved    498YPNPSARLTALWIKKTLQKISNS
Ptroglodytes  all identical  ENSPTRG00000004963  484TALRIKKTLQKISNS
Mmulatta  all identical  ENSMMUG00000004982  491PNPSARLTALRIKKTLQKISNS
Fcatus  all identical  ENSFCAG00000000265  486RLTALRIKKTLQKLSNG
Mmusculus  all identical  ENSMUSG00000000530  483LTALRIKKTLQKLSHN
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000012725  451YQRPGARLTALRVRKTLSKLDHE
Drerio  all identical  ENSDARG00000018179  479FQSPSARLTALRVRKSLSKL
Dmelanogaster  all identical  FBgn0003317  546VRLPALRIKKTIHKLASA
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000031897  454FSSPSARLTALRIKKTLNKLRSS
protein features
start (aa)end (aa)featuredetails 
142503TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1554 / 1554
position (AA) of stopcodon in wt / mu AA sequence 518 / 518
position of stopcodon in wt / mu cDNA 1655 / 1655
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 102 / 102
chromosome 12
strand 1
last intron/exon boundary 1521
theoretical NMD boundary in CDS 1369
length of CDS 1554
coding sequence (CDS) position 1492
cDNA position
(for ins/del: last normal base / first normal base)		 1593
gDNA position
(for ins/del: last normal base / first normal base)		 13924
chromosomal position
(for ins/del: last normal base / first normal base)		 52314615
original gDNA sequence snippet CTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAA
altered gDNA sequence snippet CTGCCCGACTCACCGCGCTGTGGATCAAGAAGACACTACAA
original cDNA sequence snippet CTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAA
altered cDNA sequence snippet CTGCCCGACTCACCGCGCTGTGGATCAAGAAGACACTACAA
wildtype AA sequence MALTPPLLLL SAGTMTLGSP RKGLLMLLMA LVTQGDPVKP SRGPLVTCTC ESPHCKGPTC
RGAWCTVVLV REEGRHPQEH RGCGNLHREL CRGRPTEFVN HYCCDSHLCN HNVSLVLEAT
QPPSEQPGTD GQLALILGPV LALLALVALG VLGLWHVRRR QEKQRGLHSE LGESSLILKA
SEQGDSMLGD LLDSDCTTGS GSGLPFLVQR TVARQVALVE CVGKGRYGEV WRGLWHGESV
AVKIFSSRDE QSWFRETEIY NTVLLRHDNI LGFIASDMTS RNSSTQLWLI THYHEHGSLY
DFLQRQTLEP HLALRLAVSA ACGLAHLHVE IFGTQGKPAI AHRDFKSRNV LVKSNLQCCI
ADLGLAVMHS QGSDYLDIGN NPRVGTKRYM APEVLDEQIR TDCFESYKWT DIWAFGLVLW
EIARRTIVNG IVEDYRPPFY DVVPNDPSFE DMKKVVCVDQ QTPTIPNRLA ADPVLSGLAQ
MMRECWYPNP SARLTALRIK KTLQKISNSP EKPKVIQ*
mutated AA sequence MALTPPLLLL SAGTMTLGSP RKGLLMLLMA LVTQGDPVKP SRGPLVTCTC ESPHCKGPTC
RGAWCTVVLV REEGRHPQEH RGCGNLHREL CRGRPTEFVN HYCCDSHLCN HNVSLVLEAT
QPPSEQPGTD GQLALILGPV LALLALVALG VLGLWHVRRR QEKQRGLHSE LGESSLILKA
SEQGDSMLGD LLDSDCTTGS GSGLPFLVQR TVARQVALVE CVGKGRYGEV WRGLWHGESV
AVKIFSSRDE QSWFRETEIY NTVLLRHDNI LGFIASDMTS RNSSTQLWLI THYHEHGSLY
DFLQRQTLEP HLALRLAVSA ACGLAHLHVE IFGTQGKPAI AHRDFKSRNV LVKSNLQCCI
ADLGLAVMHS QGSDYLDIGN NPRVGTKRYM APEVLDEQIR TDCFESYKWT DIWAFGLVLW
EIARRTIVNG IVEDYRPPFY DVVPNDPSFE DMKKVVCVDQ QTPTIPNRLA ADPVLSGLAQ
MMRECWYPNP SARLTALWIK KTLQKISNSP EKPKVIQ*
speed 0.70 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: 0.999999988799921 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012328)
  • known disease mutation at this position (HGMD CM147611)
  • known disease mutation at this position (HGMD CX044826)
  • known disease mutation: rs8252 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:52314615C>TN/A show variant in all transcripts   IGV
HGNC symbol ACVRL1
Ensembl transcript ID ENST00000388922
Genbank transcript ID NM_000020
UniProt peptide P37023
alteration type single base exchange
alteration region CDS
DNA changes c.1450C>T
cDNA.1733C>T
g.13924C>T
AA changes R484W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 484
frameshift no
known variant Reference ID: rs121909288
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8252 (pathogenic for Pulmonary arterial hypertension|Telangiectasia, hereditary hemorrhagic, type 2|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia|not specified) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)

known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)

known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)
known disease mutation at this position, please check HGMD for details (HGMD ID CM147611)

known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)
known disease mutation at this position, please check HGMD for details (HGMD ID CM147611)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)

known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)
known disease mutation at this position, please check HGMD for details (HGMD ID CM147611)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)
known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4891
1.7971
(flanking)5.3651
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 increased13914wt: 0.9160 / mu: 0.9243 (marginal change - not scored)wt: CCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAA
mu: CCAAACCCCTCTGCCCGACTCACCGCGCTGTGGATCAAGAA		 actc|ACCG
distance from splice site 73
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      484YPNPSARLTALRIKKTLQKISNSP
mutated  not conserved    484TALWIKKTLQKISNS
Ptroglodytes  all identical  ENSPTRG00000004963  484TALRIKKTLQKISNS
Mmulatta  all identical  ENSMMUG00000004982  491PNPSARLTALRIKKTLQKISNS
Fcatus  all identical  ENSFCAG00000000265  486RLTALRIKKTLQKLSNG
Mmusculus  all identical  ENSMUSG00000000530  483LTALRIKKTLQKLSHN
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000012725  451YQRPGARLTALRVRKTLSKLDHE
Drerio  all identical  ENSDARG00000018179  479FQSPSARLTALRVRKSLSKL
Dmelanogaster  all identical  FBgn0003317  546VRLPALRIKKTIHKLASA
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000031897  454FSSPSARLTALRIKKTLNKLRSS
protein features
start (aa)end (aa)featuredetails 
142503TOPO_DOMCytoplasmic (Potential).lost
202492DOMAINProtein kinase.lost
482491HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1512 / 1512
position (AA) of stopcodon in wt / mu AA sequence 504 / 504
position of stopcodon in wt / mu cDNA 1795 / 1795
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 284 / 284
chromosome 12
strand 1
last intron/exon boundary 1661
theoretical NMD boundary in CDS 1327
length of CDS 1512
coding sequence (CDS) position 1450
cDNA position
(for ins/del: last normal base / first normal base)		 1733
gDNA position
(for ins/del: last normal base / first normal base)		 13924
chromosomal position
(for ins/del: last normal base / first normal base)		 52314615
original gDNA sequence snippet CTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAA
altered gDNA sequence snippet CTGCCCGACTCACCGCGCTGTGGATCAAGAAGACACTACAA
original cDNA sequence snippet CTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAA
altered cDNA sequence snippet CTGCCCGACTCACCGCGCTGTGGATCAAGAAGACACTACAA
wildtype AA sequence MTLGSPRKGL LMLLMALVTQ GDPVKPSRGP LVTCTCESPH CKGPTCRGAW CTVVLVREEG
RHPQEHRGCG NLHRELCRGR PTEFVNHYCC DSHLCNHNVS LVLEATQPPS EQPGTDGQLA
LILGPVLALL ALVALGVLGL WHVRRRQEKQ RGLHSELGES SLILKASEQG DSMLGDLLDS
DCTTGSGSGL PFLVQRTVAR QVALVECVGK GRYGEVWRGL WHGESVAVKI FSSRDEQSWF
RETEIYNTVL LRHDNILGFI ASDMTSRNSS TQLWLITHYH EHGSLYDFLQ RQTLEPHLAL
RLAVSAACGL AHLHVEIFGT QGKPAIAHRD FKSRNVLVKS NLQCCIADLG LAVMHSQGSD
YLDIGNNPRV GTKRYMAPEV LDEQIRTDCF ESYKWTDIWA FGLVLWEIAR RTIVNGIVED
YRPPFYDVVP NDPSFEDMKK VVCVDQQTPT IPNRLAADPV LSGLAQMMRE CWYPNPSARL
TALRIKKTLQ KISNSPEKPK VIQ*
mutated AA sequence MTLGSPRKGL LMLLMALVTQ GDPVKPSRGP LVTCTCESPH CKGPTCRGAW CTVVLVREEG
RHPQEHRGCG NLHRELCRGR PTEFVNHYCC DSHLCNHNVS LVLEATQPPS EQPGTDGQLA
LILGPVLALL ALVALGVLGL WHVRRRQEKQ RGLHSELGES SLILKASEQG DSMLGDLLDS
DCTTGSGSGL PFLVQRTVAR QVALVECVGK GRYGEVWRGL WHGESVAVKI FSSRDEQSWF
RETEIYNTVL LRHDNILGFI ASDMTSRNSS TQLWLITHYH EHGSLYDFLQ RQTLEPHLAL
RLAVSAACGL AHLHVEIFGT QGKPAIAHRD FKSRNVLVKS NLQCCIADLG LAVMHSQGSD
YLDIGNNPRV GTKRYMAPEV LDEQIRTDCF ESYKWTDIWA FGLVLWEIAR RTIVNGIVED
YRPPFYDVVP NDPSFEDMKK VVCVDQQTPT IPNRLAADPV LSGLAQMMRE CWYPNPSARL
TALWIKKTLQ KISNSPEKPK VIQ*
speed 0.90 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: 0.999999988799921 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012328)
  • known disease mutation at this position (HGMD CM147611)
  • known disease mutation at this position (HGMD CX044826)
  • known disease mutation: rs8252 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:52314615C>TN/A show variant in all transcripts   IGV
HGNC symbol ACVRL1
Ensembl transcript ID ENST00000419526
Genbank transcript ID N/A
UniProt peptide P37023
alteration type single base exchange
alteration region CDS
DNA changes c.928C>T
cDNA.990C>T
g.13924C>T
AA changes R310W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 310
frameshift no
known variant Reference ID: rs121909288
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8252 (pathogenic for Pulmonary arterial hypertension|Telangiectasia, hereditary hemorrhagic, type 2|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia|not specified) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)

known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)

known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)
known disease mutation at this position, please check HGMD for details (HGMD ID CM147611)

known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)
known disease mutation at this position, please check HGMD for details (HGMD ID CM147611)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)

known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)
known disease mutation at this position, please check HGMD for details (HGMD ID CM147611)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012328)
known disease mutation at this position, please check HGMD for details (HGMD ID CX044826)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4891
1.7971
(flanking)5.3651
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 increased13914wt: 0.9160 / mu: 0.9243 (marginal change - not scored)wt: CCAAACCCCTCTGCCCGACTCACCGCGCTGCGGATCAAGAA
mu: CCAAACCCCTCTGCCCGACTCACCGCGCTGTGGATCAAGAA		 actc|ACCG
distance from splice site 73
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      310YPNPSARLTALRIKKTLQKISNSP
mutated  not conserved    310NPSARLTALWIKKTLQKISNS
Ptroglodytes  all identical  ENSPTRG00000004963  484YPNPSARLTALRIKKTLQKISNS
Mmulatta  all identical  ENSMMUG00000004982  491YPNPSARLTALRIKKTLQKISNS
Fcatus  all identical  ENSFCAG00000000265  486YPNPSARLTALRIKKTLQKLSNG
Mmusculus  all identical  ENSMUSG00000000530  483YPNPSARLTALRIKKTLQKLSHN
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000012725  451YQRPGARLTALRVRKTLSKLDHE
Drerio  all identical  ENSDARG00000018179  479FQSPSARLTALRVRKSLSKL
Dmelanogaster  all identical  FBgn0003317  546HQNPDVRLPALRIKKTIHKLASA
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000031897  454FSSPSARLTALRIKKTLNKLRSS
protein features
start (aa)end (aa)featuredetails 
142503TOPO_DOMCytoplasmic (Potential).lost
202492DOMAINProtein kinase.lost
296314HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 990 / 990
position (AA) of stopcodon in wt / mu AA sequence 330 / 330
position of stopcodon in wt / mu cDNA 1052 / 1052
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 63 / 63
chromosome 12
strand 1
last intron/exon boundary 918
theoretical NMD boundary in CDS 805
length of CDS 990
coding sequence (CDS) position 928
cDNA position
(for ins/del: last normal base / first normal base)		 990
gDNA position
(for ins/del: last normal base / first normal base)		 13924
chromosomal position
(for ins/del: last normal base / first normal base)		 52314615
original gDNA sequence snippet CTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAA
altered gDNA sequence snippet CTGCCCGACTCACCGCGCTGTGGATCAAGAAGACACTACAA
original cDNA sequence snippet CTGCCCGACTCACCGCGCTGCGGATCAAGAAGACACTACAA
altered cDNA sequence snippet CTGCCCGACTCACCGCGCTGTGGATCAAGAAGACACTACAA
wildtype AA sequence MALTPPLLLL SAGTMTLGSP RKGLLMLLMA LVTQGKGRYG EVWRGLWHGE SVAVKIFSSR
DEQSWFRETE IYNTVLLRHD NILGFIASDM TSRNSSTQLW LITHYHEHGS LYDFLQRQTL
EPHLALRLAV SAACGLAHLH VEIFGTQGKP AIAHRDFKSR NVLVKSNLQC CIADLGLAVM
HSQGSDYLDI GNNPRVGTKR YMAPEVLDEQ IRTDCFESYK WTDIWAFGLV LWEIARRTIV
NGIVEDYRPP FYDVVPNDPS FEDMKKVVCV DQQTPTIPNR LAADPVLSGL AQMMRECWYP
NPSARLTALR IKKTLQKISN SPEKPKVIQ*
mutated AA sequence MALTPPLLLL SAGTMTLGSP RKGLLMLLMA LVTQGKGRYG EVWRGLWHGE SVAVKIFSSR
DEQSWFRETE IYNTVLLRHD NILGFIASDM TSRNSSTQLW LITHYHEHGS LYDFLQRQTL
EPHLALRLAV SAACGLAHLH VEIFGTQGKP AIAHRDFKSR NVLVKSNLQC CIADLGLAVM
HSQGSDYLDI GNNPRVGTKR YMAPEVLDEQ IRTDCFESYK WTDIWAFGLV LWEIARRTIV
NGIVEDYRPP FYDVVPNDPS FEDMKKVVCV DQQTPTIPNR LAADPVLSGL AQMMRECWYP
NPSARLTALW IKKTLQKISN SPEKPKVIQ*
speed 0.73 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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