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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000259008
Querying Taster for transcript #2: ENST00000577598
MT speed 0 s - this script 4.817999 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
BRIP1disease_causing0.900577919261487simple_aaeaffectedM299Isingle base exchangers137852985show file
BRIP1disease_causing0.900577919261487simple_aaeaffectedM299Isingle base exchangers137852985show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.900577919261487      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM014757)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:59885849C>TN/A show variant in all transcripts   IGV
HGNC symbol BRIP1
Ensembl transcript ID ENST00000259008
Genbank transcript ID NM_032043
UniProt peptide Q9BX63
alteration type single base exchange
alteration region CDS
DNA changes c.897G>A
cDNA.1165G>A
g.55034G>A
AA changes M299I Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 299
frameshift no
known variant Reference ID: rs137852985
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM014757)

known disease mutation at this position, please check HGMD for details (HGMD ID CM014757)
known disease mutation at this position, please check HGMD for details (HGMD ID CM014757)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.4261
3.7371
(flanking)2.6071
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased55032wt: 0.44 / mu: 0.69wt: AGTGCATGGAATTGC
mu: AGTGCATAGAATTGC		 TGCA|tgga
Donor gained550290.89mu: AGAAGTGCATAGAAT AAGT|gcat
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      299VVGNFNRNEKCMELLDGKNGKSCY
mutated  all conserved    299VVGNFNRNEKCIELLDGKNGKSC
Ptroglodytes  all identical  ENSPTRG00000009493  299VVGNFNRNEKCMELLDGKNGKSC
Mmulatta  not conserved  ENSMMUG00000009027  301AHLSQPDFGKSC
Fcatus  no alignment  ENSFCAG00000018470  n/a
Mmusculus  all identical  ENSMUSG00000034329  302EKCMELLDGKHGKSC
Ggallus  all conserved  ENSGALG00000005279  308SNSNRNELCVELLEGKHGKSC
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000074410  326VVPHANRNERCKEFLEAKNGRSC
Dmelanogaster  no homologue    
Celegans  not conserved  F33H2.1  293ARKHADISQYCKEV-N
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
11442DOMAINHelicase ATP-binding.lost
298298METALIron-sulfur (4Fe-4S) (By similarity).might get lost (downstream of altered splice site)
310310METALIron-sulfur (4Fe-4S) (By similarity).might get lost (downstream of altered splice site)
350350METALIron-sulfur (4Fe-4S) (By similarity).might get lost (downstream of altered splice site)
393396MOTIFDEAH box.might get lost (downstream of altered splice site)
641641CONFLICTI -> V (in Ref. 4; BAC11156).might get lost (downstream of altered splice site)
767767CONFLICTE -> I (in Ref. 1; AA sequence).might get lost (downstream of altered splice site)
8881063REGIONInteraction with BRCA1.might get lost (downstream of altered splice site)
918918MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
921921MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
927927MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
930930MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
986986MUTAGENS->A: Does not affect the interaction with BRCA1.might get lost (downstream of altered splice site)
988988MUTAGENS->A: Does not affect the interaction with BRCA1.might get lost (downstream of altered splice site)
989989MUTAGENT->A: Does not affect the interaction with BRCA1.might get lost (downstream of altered splice site)
990990MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
990990MUTAGENS->A: Disrupts the interaction with BRCA1.might get lost (downstream of altered splice site)
991991MUTAGENP->A: Abolishes phosphorylation of S-990. Impairs the interaction with BRCA1.might get lost (downstream of altered splice site)
992992MUTAGENT->A: Does not affect the interaction with BRCA1.might get lost (downstream of altered splice site)
993993MUTAGENF->A: Abolishes phosphorylation of S-990. Impairs the interaction with BRCA1.might get lost (downstream of altered splice site)
997997MUTAGENT->A: Does not affect the interaction with BRCA1.might get lost (downstream of altered splice site)
10011001MUTAGENS->A: Does not affect the interaction with BRCA1.might get lost (downstream of altered splice site)
10031003MUTAGENS->A: Does not affect the interaction with BRCA1.might get lost (downstream of altered splice site)
10041004MUTAGENS->A: Does not affect the interaction with BRCA1.might get lost (downstream of altered splice site)
10071007MUTAGENS->A: Does not affect the interaction with BRCA1.might get lost (downstream of altered splice site)
10111011MUTAGENY->A: Does not affect the interaction with BRCA1.might get lost (downstream of altered splice site)
10131013MUTAGENT->A: Does not affect the interaction with BRCA1.might get lost (downstream of altered splice site)
10311031MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10321032MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3750 / 3750
position (AA) of stopcodon in wt / mu AA sequence 1250 / 1250
position of stopcodon in wt / mu cDNA 4018 / 4018
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 269 / 269
chromosome 17
strand -1
last intron/exon boundary 3174
theoretical NMD boundary in CDS 2855
length of CDS 3750
coding sequence (CDS) position 897
cDNA position
(for ins/del: last normal base / first normal base)		 1165
gDNA position
(for ins/del: last normal base / first normal base)		 55034
chromosomal position
(for ins/del: last normal base / first normal base)		 59885849
original gDNA sequence snippet AACAGAAATGAGAAGTGCATGGAATTGCTAGATGGGAAAAA
altered gDNA sequence snippet AACAGAAATGAGAAGTGCATAGAATTGCTAGATGGGAAAAA
original cDNA sequence snippet AACAGAAATGAGAAGTGCATGGAATTGCTAGATGGGAAAAA
altered cDNA sequence snippet AACAGAAATGAGAAGTGCATAGAATTGCTAGATGGGAAAAA
wildtype AA sequence MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK
SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME
LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ
DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD
ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM
GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ
NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF
SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL
CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV
KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI
TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG
ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT
NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS
SIISRKEKND PVFLEEAGKA EKIVISRSTS PTFNKQTKRV SWSSFNSLGQ YFTGKIPKAT
PELGSSENSA SSPPRFKTEK MESKTVLPFT DKCESSNLTV NTSFGSCPQS ETIISSLKID
ATLTRKNHSE HPLCSEEALD PDIELSLVSE EDKQSTSNRD FETEAEDESI YFTPELYDPE
DTDEEKNDLA ETDRGNRLAN NSDCILAKDL FEIRTIKEVD SAREVKAEDC IDTKLNGILH
IEESKIDDID GNVKTTWINE LELGKTHEIE IKNFKPSPSK NKGMFPGFK*
mutated AA sequence MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK
SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCIE
LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ
DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD
ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM
GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ
NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF
SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL
CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV
KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI
TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG
ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT
NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS
SIISRKEKND PVFLEEAGKA EKIVISRSTS PTFNKQTKRV SWSSFNSLGQ YFTGKIPKAT
PELGSSENSA SSPPRFKTEK MESKTVLPFT DKCESSNLTV NTSFGSCPQS ETIISSLKID
ATLTRKNHSE HPLCSEEALD PDIELSLVSE EDKQSTSNRD FETEAEDESI YFTPELYDPE
DTDEEKNDLA ETDRGNRLAN NSDCILAKDL FEIRTIKEVD SAREVKAEDC IDTKLNGILH
IEESKIDDID GNVKTTWINE LELGKTHEIE IKNFKPSPSK NKGMFPGFK*
speed 1.41 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: 0.900577919261487      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM014757)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:59885849C>TN/A show variant in all transcripts   IGV
HGNC symbol BRIP1
Ensembl transcript ID ENST00000577598
Genbank transcript ID N/A
UniProt peptide Q9BX63
alteration type single base exchange
alteration region CDS
DNA changes c.897G>A
cDNA.897G>A
g.55034G>A
AA changes M299I Score: 10 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 299
frameshift no
known variant Reference ID: rs137852985
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM014757)

known disease mutation at this position, please check HGMD for details (HGMD ID CM014757)
known disease mutation at this position, please check HGMD for details (HGMD ID CM014757)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.4261
3.7371
(flanking)2.6071
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased55032wt: 0.44 / mu: 0.69wt: AGTGCATGGAATTGC
mu: AGTGCATAGAATTGC		 TGCA|tgga
Donor gained550290.89mu: AGAAGTGCATAGAAT AAGT|gcat
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      299VVGNFNRNEKCMELLDGKNGKSCY
mutated  all conserved    299VVGNFNRNEKCIELLDGKNGKSC
Ptroglodytes  all identical  ENSPTRG00000009493  299VVGNFNRNEKCMELLDGKNGKSC
Mmulatta  not conserved  ENSMMUG00000009027  301AHLSQPDFGKSC
Fcatus  no alignment  ENSFCAG00000018470  n/a
Mmusculus  all identical  ENSMUSG00000034329  302EKCMELLDGKHGKSC
Ggallus  all conserved  ENSGALG00000005279  308SNSNRNELCVELLEGKHGKSC
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000074410  326VVPHANRNERCKEFLEAKNGRSC
Dmelanogaster  no homologue    
Celegans  not conserved  F33H2.1  293ARKHADISQYCKEV-N
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
11442DOMAINHelicase ATP-binding.lost
298298METALIron-sulfur (4Fe-4S) (By similarity).might get lost (downstream of altered splice site)
310310METALIron-sulfur (4Fe-4S) (By similarity).might get lost (downstream of altered splice site)
350350METALIron-sulfur (4Fe-4S) (By similarity).might get lost (downstream of altered splice site)
393396MOTIFDEAH box.might get lost (downstream of altered splice site)
641641CONFLICTI -> V (in Ref. 4; BAC11156).might get lost (downstream of altered splice site)
767767CONFLICTE -> I (in Ref. 1; AA sequence).might get lost (downstream of altered splice site)
8881063REGIONInteraction with BRCA1.might get lost (downstream of altered splice site)
918918MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
921921MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
927927MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
930930MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
986986MUTAGENS->A: Does not affect the interaction with BRCA1.might get lost (downstream of altered splice site)
988988MUTAGENS->A: Does not affect the interaction with BRCA1.might get lost (downstream of altered splice site)
989989MUTAGENT->A: Does not affect the interaction with BRCA1.might get lost (downstream of altered splice site)
990990MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
990990MUTAGENS->A: Disrupts the interaction with BRCA1.might get lost (downstream of altered splice site)
991991MUTAGENP->A: Abolishes phosphorylation of S-990. Impairs the interaction with BRCA1.might get lost (downstream of altered splice site)
992992MUTAGENT->A: Does not affect the interaction with BRCA1.might get lost (downstream of altered splice site)
993993MUTAGENF->A: Abolishes phosphorylation of S-990. Impairs the interaction with BRCA1.might get lost (downstream of altered splice site)
997997MUTAGENT->A: Does not affect the interaction with BRCA1.might get lost (downstream of altered splice site)
10011001MUTAGENS->A: Does not affect the interaction with BRCA1.might get lost (downstream of altered splice site)
10031003MUTAGENS->A: Does not affect the interaction with BRCA1.might get lost (downstream of altered splice site)
10041004MUTAGENS->A: Does not affect the interaction with BRCA1.might get lost (downstream of altered splice site)
10071007MUTAGENS->A: Does not affect the interaction with BRCA1.might get lost (downstream of altered splice site)
10111011MUTAGENY->A: Does not affect the interaction with BRCA1.might get lost (downstream of altered splice site)
10131013MUTAGENT->A: Does not affect the interaction with BRCA1.might get lost (downstream of altered splice site)
10311031MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10321032MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2985 / 2985
position (AA) of stopcodon in wt / mu AA sequence 995 / 995
position of stopcodon in wt / mu cDNA 2985 / 2985
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 1 / 1
chromosome 17
strand -1
last intron/exon boundary 2576
theoretical NMD boundary in CDS 2525
length of CDS 2985
coding sequence (CDS) position 897
cDNA position
(for ins/del: last normal base / first normal base)		 897
gDNA position
(for ins/del: last normal base / first normal base)		 55034
chromosomal position
(for ins/del: last normal base / first normal base)		 59885849
original gDNA sequence snippet AACAGAAATGAGAAGTGCATGGAATTGCTAGATGGGAAAAA
altered gDNA sequence snippet AACAGAAATGAGAAGTGCATAGAATTGCTAGATGGGAAAAA
original cDNA sequence snippet AACAGAAATGAGAAGTGCATGGAATTGCTAGATGGGAAAAA
altered cDNA sequence snippet AACAGAAATGAGAAGTGCATAGAATTGCTAGATGGGAAAAA
wildtype AA sequence MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK
SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCME
LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ
DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD
ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM
GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ
NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF
SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL
CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV
KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI
TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG
ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT
NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS
SIISRKEKSM KSSSHLPLIE KSFIIFSEMI FIWV*
mutated AA sequence MSSMWSEYTI GGVKIYFPYK AYPSQLAMMN SILRGLNSKQ HCLLESPTGS GKSLALLCSA
LAWQQSLSGK PADEGVSEKA EVQLSCCCAC HSKDFTNNDM NQGTSRHFNY PSTPPSERNG
TSSTCQDSPE KTTLAAKLSA KKQASIYRDE NDDFQVEKKR IRPLETTQQI RKRHCFGTEV
HNLDAKVDSG KTVKLNSPLE KINSFSPQKP PGHCSRCCCS TKQGNSQESS NTIKKDHTGK
SKIPKIYFGT RTHKQIAQIT RELRRTAYSG VPMTILSSRD HTCVHPEVVG NFNRNEKCIE
LLDGKNGKSC YFYHGVHKIS DQHTLQTFQG MCKAWDIEEL VSLGKKLKAC PYYTARELIQ
DADIIFCPYN YLLDAQIRES MDLNLKEQVV ILDEAHNIED CARESASYSV TEVQLRFARD
ELDSMVNNNI RKKDHEPLRA VCCSLINWLE ANAEYLVERD YESACKIWSG NEMLLTLHKM
GITTATFPIL QGHFSAVLQK EEKISPIYGK EEAREVPVIS ASTQIMLKGL FMVLDYLFRQ
NSRFADDYKI AIQQTYSWTN QIDISDKNGL LVLPKNKKRS RQKTAVHVLN FWCLNPAVAF
SDINGKVQTI VLTSGTLSPM KSFSSELGVT FTIQLEANHI IKNSQVWVGT IGSGPKGRNL
CATFQNTETF EFQDEVGALL LSVCQTVSQG ILCFLPSYKL LEKLKERWLS TGLWHNLELV
KTVIVEPQGG EKTNFDELLQ VYYDAIKYKG EKDGALLVAV CRGKVSEGLD FSDDNARAVI
TIGIPFPNVK DLQVELKRQY NDHHSKLRGL LPGRQWYEIQ AYRALNQALG RCIRHRNDWG
ALILVDDRFR NNPSRYISGL SKWVRQQIQH HSTFESALES LAEFSKKHQK VLNVSIKDRT
NIQDNESTLE VTSLKYSTSP YLLEAASHLS PENFVEDEAK ICVQELQCPK IITKNSPLPS
SIISRKEKSM KSSSHLPLIE KSFIIFSEMI FIWV*
speed 1.40 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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