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: ENST00000465950
Querying Taster for transcript #2: ENST00000369367
Querying Taster for transcript #3: ENST00000549162
Querying Taster for transcript #4: ENST00000419565
MT speed 0 s - this script 4.797952 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
SCAF11polymorphism_automatic4.69957406323829e-13simple_aaeaffectedF342Ysingle base exchangers7315731show file
SCAF11polymorphism_automatic4.69957406323829e-13simple_aaeaffectedF657Ysingle base exchangers7315731show file
SCAF11polymorphism_automatic4.69957406323829e-13simple_aaeaffectedF465Ysingle base exchangers7315731show file
SCAF11polymorphism_automatic4.69957406323829e-13simple_aaeaffectedF657Ysingle base exchangers7315731show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999953 (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) chr12:46321514A>TN/A show variant in all transcripts   IGV
HGNC symbol SCAF11
Ensembl transcript ID ENST00000465950
Genbank transcript ID N/A
UniProt peptide Q99590
alteration type single base exchange
alteration region CDS
DNA changes c.1025T>A
cDNA.2235T>A
g.64390T>A
AA changes F342Y Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 342
frameshift no
known variant Reference ID: rs7315731
databasehomozygous (T/T)heterozygousallele carriers
1000G44410651509
ExAC13157645319610
regulatory features H3K27me1, Histone, Histone 3 Lysine 27 mono-methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6990
0.4950
(flanking)-0.3170
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased64382wt: 0.37 / mu: 0.79wt: GGGAATGAAGATTTC
mu: GGGAATGAAGATTAC		 GAAT|gaag
distance from splice site 1590
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      342IATCDTFGNEDFNNIQDSENNLLK
mutated  all conserved    342IATCDTFGNEDYNNIQDSENNLL
Ptroglodytes  all identical  ENSPTRG00000004854  657IATCDTFGNEDFNNIQDSENNLL
Mmulatta  all identical  ENSMMUG00000023791  658IATCDTFGNEDFNNVQDSENNLL
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000033228  668PACEHIQTENTEIIPVCGTLENENSDAVQDCEDNLL
Ggallus  no alignment  ENSGALG00000009672  n/a
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000045885  308TSQTLNDTASTSRGQQGNNPRSGVKTRG
Dmelanogaster  no alignment  FBgn0037344  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
341341MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
344344MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
400400MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
401401MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
402402MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
405405MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
410410MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
413413MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
416416MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
533533MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
584584CONFLICTI -> M (in Ref. 5; AAH40951).might get lost (downstream of altered splice site)
608608MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
614614MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
623623CONFLICTD -> G (in Ref. 5; AAH40951).might get lost (downstream of altered splice site)
680680MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
723723MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
726726MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
771771MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
776776MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
796796MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
798798MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
800800MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
802802MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
807807MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
816816MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
818818MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
827827MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
832832MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
841985COMPBIASArg-rich.might get lost (downstream of altered splice site)
878878MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
880880MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
882882MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
963963MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11091109MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11271127MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12251285COMPBIASPro-rich.might get lost (downstream of altered splice site)
13921392MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3447 / 3447
position (AA) of stopcodon in wt / mu AA sequence 1149 / 1149
position of stopcodon in wt / mu cDNA 4657 / 4657
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 1211 / 1211
chromosome 12
strand -1
last intron/exon boundary 4511
theoretical NMD boundary in CDS 3250
length of CDS 3447
coding sequence (CDS) position 1025
cDNA position
(for ins/del: last normal base / first normal base)		 2235
gDNA position
(for ins/del: last normal base / first normal base)		 64390
chromosomal position
(for ins/del: last normal base / first normal base)		 46321514
original gDNA sequence snippet TACTTTTGGGAATGAAGATTTCAATAATATTCAAGACTCTG
altered gDNA sequence snippet TACTTTTGGGAATGAAGATTACAATAATATTCAAGACTCTG
original cDNA sequence snippet TACTTTTGGGAATGAAGATTTCAATAATATTCAAGACTCTG
altered cDNA sequence snippet TACTTTTGGGAATGAAGATTACAATAATATTCAAGACTCTG
wildtype AA sequence MTTPTRRSTR NTRAETASQS QRSPISDNSG CDAPGNSNPS LSVPSSAESE KQTRQAPKRK
SVRRGRKPPL LKKKLRSSVA APEKSSSNDS VDEETAESDT SPVLEKEHQP DVDSSNICTV
QTHVENQSAN CLKSCNEQIE ESEKHTANYD TEERVGSSSS ESCAQDLPVL VGEEGEVKKL
ENTGIEANVL CLESEISENI LEKGGDPLEK QDQISGLSQS EVKTDVCTVH LPNDFPTCLT
SESKVYQPVS CPLSDLSENV ESVVNEEKIT ESSLVEITEH KDFTLKTEEL IESPKLESSE
GEIIQTVDRQ SVKSPEVQLL GHVETEDVEI IATCDTFGNE DFNNIQDSEN NLLKNNLLNT
KLEKSLEEKN ESLTEHPRST ELPKTHIEQI QKHFSEDNNE MIPMECDSFC SDQNESEVEP
SVNADLKQMN ENSVTHCSEN NMPSSDLADE KVETVSQPSE SPKDTIDKTK KPRTRRSRFH
SPSTTWSPNK DTPQEKKRPQ SPSPRRETGK ESRKSQSPSP KNESARGRKK SRSQSPKKDI
ARERRQSQSR SPKRDTTRES RRSESLSPRR ETSRENKRSQ PRVKDSSPGE KSRSQSRERE
SDRDGQRRER ERRTRKWSRS RSHSRSPSRC RTKSKSSSFG RIDRDSYSPR WKGRWANDGW
RCPRGNDRYR KNDPEKQNEN TRKEKNDIHL DADDPNSADK HRNDCPNWIT EKINSGPDPR
TRNPEKLKES HWEENRNENS GNSWNKNFGS GWVSNRGRGR GNRGRGTYRS SFAYKDQNEN
RWQNRKPLSG NSNSSGSESF KFVEQQSYKR KSEQEFSFDT PADRSGWTSA SSWAVRKTLP
ADVQNYYSRR GRNSSGPQSG WMKQEEETSG QDSSLKDQTN QQVDGSQLPI NMMQPQMNVM
QQQMNAQHQP MNIFPYPVGV HAPLMNIQRN PFNIHPQLPL HLHTGVPLMQ VATPTSVSQG
LPPPPPPPPP SQQVNYIASQ PDGKQLQGIP SSSHVSNNMS TPVLPAPTAA PGNTGMVQGP
SSGNTSSSSH SKASNAAVKL AESKVSVAVE ASADSSKTDK KLQIQEKAAQ EVKLAIKPFY
QNKDITKEEY KEIVRKAVDK VCHSKSGEVN STKVANLVKA YVDKYKYSRK GSQKKTLEEP
VSTEKNIG*
mutated AA sequence MTTPTRRSTR NTRAETASQS QRSPISDNSG CDAPGNSNPS LSVPSSAESE KQTRQAPKRK
SVRRGRKPPL LKKKLRSSVA APEKSSSNDS VDEETAESDT SPVLEKEHQP DVDSSNICTV
QTHVENQSAN CLKSCNEQIE ESEKHTANYD TEERVGSSSS ESCAQDLPVL VGEEGEVKKL
ENTGIEANVL CLESEISENI LEKGGDPLEK QDQISGLSQS EVKTDVCTVH LPNDFPTCLT
SESKVYQPVS CPLSDLSENV ESVVNEEKIT ESSLVEITEH KDFTLKTEEL IESPKLESSE
GEIIQTVDRQ SVKSPEVQLL GHVETEDVEI IATCDTFGNE DYNNIQDSEN NLLKNNLLNT
KLEKSLEEKN ESLTEHPRST ELPKTHIEQI QKHFSEDNNE MIPMECDSFC SDQNESEVEP
SVNADLKQMN ENSVTHCSEN NMPSSDLADE KVETVSQPSE SPKDTIDKTK KPRTRRSRFH
SPSTTWSPNK DTPQEKKRPQ SPSPRRETGK ESRKSQSPSP KNESARGRKK SRSQSPKKDI
ARERRQSQSR SPKRDTTRES RRSESLSPRR ETSRENKRSQ PRVKDSSPGE KSRSQSRERE
SDRDGQRRER ERRTRKWSRS RSHSRSPSRC RTKSKSSSFG RIDRDSYSPR WKGRWANDGW
RCPRGNDRYR KNDPEKQNEN TRKEKNDIHL DADDPNSADK HRNDCPNWIT EKINSGPDPR
TRNPEKLKES HWEENRNENS GNSWNKNFGS GWVSNRGRGR GNRGRGTYRS SFAYKDQNEN
RWQNRKPLSG NSNSSGSESF KFVEQQSYKR KSEQEFSFDT PADRSGWTSA SSWAVRKTLP
ADVQNYYSRR GRNSSGPQSG WMKQEEETSG QDSSLKDQTN QQVDGSQLPI NMMQPQMNVM
QQQMNAQHQP MNIFPYPVGV HAPLMNIQRN PFNIHPQLPL HLHTGVPLMQ VATPTSVSQG
LPPPPPPPPP SQQVNYIASQ PDGKQLQGIP SSSHVSNNMS TPVLPAPTAA PGNTGMVQGP
SSGNTSSSSH SKASNAAVKL AESKVSVAVE ASADSSKTDK KLQIQEKAAQ EVKLAIKPFY
QNKDITKEEY KEIVRKAVDK VCHSKSGEVN STKVANLVKA YVDKYKYSRK GSQKKTLEEP
VSTEKNIG*
speed 1.14 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: 0.99999999999953 (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) chr12:46321514A>TN/A show variant in all transcripts   IGV
HGNC symbol SCAF11
Ensembl transcript ID ENST00000369367
Genbank transcript ID NM_004719
UniProt peptide Q99590
alteration type single base exchange
alteration region CDS
DNA changes c.1970T>A
cDNA.2204T>A
g.64390T>A
AA changes F657Y Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 657
frameshift no
known variant Reference ID: rs7315731
databasehomozygous (T/T)heterozygousallele carriers
1000G44410651509
ExAC13157645319610
regulatory features H3K27me1, Histone, Histone 3 Lysine 27 mono-methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6990
0.4950
(flanking)-0.3170
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased64382wt: 0.37 / mu: 0.79wt: GGGAATGAAGATTTC
mu: GGGAATGAAGATTAC		 GAAT|gaag
distance from splice site 1129
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      657IATCDTFGNEDFNNIQDSENNLLK
mutated  all conserved    657IATCDTFGNEDYNNI
Ptroglodytes  all identical  ENSPTRG00000004854  657IATCDTFGNEDFNNI
Mmulatta  all identical  ENSMMUG00000023791  658IATCDTFGNEDFNN
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000033228  658IPACEHIQTENTEIIPACEHIQTENTEIIPVCGTLENENSDAVQDCEDNLL
Ggallus  no alignment  ENSGALG00000009672  n/a
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000045885  308TSQTLNDTASTSRGQQGNNPRSGVKTRG
Dmelanogaster  no alignment  FBgn0037344  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
680680MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
723723MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
726726MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
771771MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
776776MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
796796MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
798798MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
800800MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
802802MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
807807MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
816816MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
818818MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
827827MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
832832MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
841985COMPBIASArg-rich.might get lost (downstream of altered splice site)
878878MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
880880MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
882882MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
963963MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11091109MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11271127MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12251285COMPBIASPro-rich.might get lost (downstream of altered splice site)
13921392MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4392 / 4392
position (AA) of stopcodon in wt / mu AA sequence 1464 / 1464
position of stopcodon in wt / mu cDNA 4626 / 4626
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 235 / 235
chromosome 12
strand -1
last intron/exon boundary 4480
theoretical NMD boundary in CDS 4195
length of CDS 4392
coding sequence (CDS) position 1970
cDNA position
(for ins/del: last normal base / first normal base)		 2204
gDNA position
(for ins/del: last normal base / first normal base)		 64390
chromosomal position
(for ins/del: last normal base / first normal base)		 46321514
original gDNA sequence snippet TACTTTTGGGAATGAAGATTTCAATAATATTCAAGACTCTG
altered gDNA sequence snippet TACTTTTGGGAATGAAGATTACAATAATATTCAAGACTCTG
original cDNA sequence snippet TACTTTTGGGAATGAAGATTTCAATAATATTCAAGACTCTG
altered cDNA sequence snippet TACTTTTGGGAATGAAGATTACAATAATATTCAAGACTCTG
wildtype AA sequence MKKKTVCTLN MGDKKYEDME GEENGDNTIS TGLLYSEADR CPICLNCLLE KEVGFPESCN
HVFCMTCILK WAETLASCPI DRKPFQAVFK FSALEGYVKV QVKKQLRETK DKKNENSFEK
QVSCHENSKS CIRRKAIVRE DLLSAKVCDL KWIHRNSLYS ETGGKKNAAI KINKPQRSNW
STNQCFRNFF SNMFSSVSHS GESSFTYRAY CTEFIEASEI SALIRQKRHE LELSWFPDTL
PGIGRIGFIP WNVETEVLPL ISSVLPRTIF PTSTISFEHF GTSCKGYALA HTQEGEEKKQ
TSGTSNTRGS RRKPAMTTPT RRSTRNTRAE TASQSQRSPI SDNSGCDAPG NSNPSLSVPS
SAESEKQTRQ APKRKSVRRG RKPPLLKKKL RSSVAAPEKS SSNDSVDEET AESDTSPVLE
KEHQPDVDSS NICTVQTHVE NQSANCLKSC NEQIEESEKH TANYDTEERV GSSSSESCAQ
DLPVLVGEEG EVKKLENTGI EANVLCLESE ISENILEKGG DPLEKQDQIS GLSQSEVKTD
VCTVHLPNDF PTCLTSESKV YQPVSCPLSD LSENVESVVN EEKITESSLV EITEHKDFTL
KTEELIESPK LESSEGEIIQ TVDRQSVKSP EVQLLGHVET EDVEIIATCD TFGNEDFNNI
QDSENNLLKN NLLNTKLEKS LEEKNESLTE HPRSTELPKT HIEQIQKHFS EDNNEMIPME
CDSFCSDQNE SEVEPSVNAD LKQMNENSVT HCSENNMPSS DLADEKVETV SQPSESPKDT
IDKTKKPRTR RSRFHSPSTT WSPNKDTPQE KKRPQSPSPR RETGKESRKS QSPSPKNESA
RGRKKSRSQS PKKDIARERR QSQSRSPKRD TTRESRRSES LSPRRETSRE NKRSQPRVKD
SSPGEKSRSQ SRERESDRDG QRRERERRTR KWSRSRSHSR SPSRCRTKSK SSSFGRIDRD
SYSPRWKGRW ANDGWRCPRG NDRYRKNDPE KQNENTRKEK NDIHLDADDP NSADKHRNDC
PNWITEKINS GPDPRTRNPE KLKESHWEEN RNENSGNSWN KNFGSGWVSN RGRGRGNRGR
GTYRSSFAYK DQNENRWQNR KPLSGNSNSS GSESFKFVEQ QSYKRKSEQE FSFDTPADRS
GWTSASSWAV RKTLPADVQN YYSRRGRNSS GPQSGWMKQE EETSGQDSSL KDQTNQQVDG
SQLPINMMQP QMNVMQQQMN AQHQPMNIFP YPVGVHAPLM NIQRNPFNIH PQLPLHLHTG
VPLMQVATPT SVSQGLPPPP PPPPPSQQVN YIASQPDGKQ LQGIPSSSHV SNNMSTPVLP
APTAAPGNTG MVQGPSSGNT SSSSHSKASN AAVKLAESKV SVAVEASADS SKTDKKLQIQ
EKAAQEVKLA IKPFYQNKDI TKEEYKEIVR KAVDKVCHSK SGEVNSTKVA NLVKAYVDKY
KYSRKGSQKK TLEEPVSTEK NIG*
mutated AA sequence MKKKTVCTLN MGDKKYEDME GEENGDNTIS TGLLYSEADR CPICLNCLLE KEVGFPESCN
HVFCMTCILK WAETLASCPI DRKPFQAVFK FSALEGYVKV QVKKQLRETK DKKNENSFEK
QVSCHENSKS CIRRKAIVRE DLLSAKVCDL KWIHRNSLYS ETGGKKNAAI KINKPQRSNW
STNQCFRNFF SNMFSSVSHS GESSFTYRAY CTEFIEASEI SALIRQKRHE LELSWFPDTL
PGIGRIGFIP WNVETEVLPL ISSVLPRTIF PTSTISFEHF GTSCKGYALA HTQEGEEKKQ
TSGTSNTRGS RRKPAMTTPT RRSTRNTRAE TASQSQRSPI SDNSGCDAPG NSNPSLSVPS
SAESEKQTRQ APKRKSVRRG RKPPLLKKKL RSSVAAPEKS SSNDSVDEET AESDTSPVLE
KEHQPDVDSS NICTVQTHVE NQSANCLKSC NEQIEESEKH TANYDTEERV GSSSSESCAQ
DLPVLVGEEG EVKKLENTGI EANVLCLESE ISENILEKGG DPLEKQDQIS GLSQSEVKTD
VCTVHLPNDF PTCLTSESKV YQPVSCPLSD LSENVESVVN EEKITESSLV EITEHKDFTL
KTEELIESPK LESSEGEIIQ TVDRQSVKSP EVQLLGHVET EDVEIIATCD TFGNEDYNNI
QDSENNLLKN NLLNTKLEKS LEEKNESLTE HPRSTELPKT HIEQIQKHFS EDNNEMIPME
CDSFCSDQNE SEVEPSVNAD LKQMNENSVT HCSENNMPSS DLADEKVETV SQPSESPKDT
IDKTKKPRTR RSRFHSPSTT WSPNKDTPQE KKRPQSPSPR RETGKESRKS QSPSPKNESA
RGRKKSRSQS PKKDIARERR QSQSRSPKRD TTRESRRSES LSPRRETSRE NKRSQPRVKD
SSPGEKSRSQ SRERESDRDG QRRERERRTR KWSRSRSHSR SPSRCRTKSK SSSFGRIDRD
SYSPRWKGRW ANDGWRCPRG NDRYRKNDPE KQNENTRKEK NDIHLDADDP NSADKHRNDC
PNWITEKINS GPDPRTRNPE KLKESHWEEN RNENSGNSWN KNFGSGWVSN RGRGRGNRGR
GTYRSSFAYK DQNENRWQNR KPLSGNSNSS GSESFKFVEQ QSYKRKSEQE FSFDTPADRS
GWTSASSWAV RKTLPADVQN YYSRRGRNSS GPQSGWMKQE EETSGQDSSL KDQTNQQVDG
SQLPINMMQP QMNVMQQQMN AQHQPMNIFP YPVGVHAPLM NIQRNPFNIH PQLPLHLHTG
VPLMQVATPT SVSQGLPPPP PPPPPSQQVN YIASQPDGKQ LQGIPSSSHV SNNMSTPVLP
APTAAPGNTG MVQGPSSGNT SSSSHSKASN AAVKLAESKV SVAVEASADS SKTDKKLQIQ
EKAAQEVKLA IKPFYQNKDI TKEEYKEIVR KAVDKVCHSK SGEVNSTKVA NLVKAYVDKY
KYSRKGSQKK TLEEPVSTEK NIG*
speed 1.11 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: 0.99999999999953 (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) chr12:46321514A>TN/A show variant in all transcripts   IGV
HGNC symbol SCAF11
Ensembl transcript ID ENST00000549162
Genbank transcript ID N/A
UniProt peptide Q99590
alteration type single base exchange
alteration region CDS
DNA changes c.1394T>A
cDNA.1512T>A
g.64390T>A
AA changes F465Y Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 465
frameshift no
known variant Reference ID: rs7315731
databasehomozygous (T/T)heterozygousallele carriers
1000G44410651509
ExAC13157645319610
regulatory features H3K27me1, Histone, Histone 3 Lysine 27 mono-methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6990
0.4950
(flanking)-0.3170
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased64382wt: 0.37 / mu: 0.79wt: GGGAATGAAGATTTC
mu: GGGAATGAAGATTAC		 GAAT|gaag
distance from splice site 1129
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      465IATCDTFGNEDFNNIQDSENNLLK
mutated  all conserved    465IATCDTFGNEDYNNIQDSENNLL
Ptroglodytes  all identical  ENSPTRG00000004854  657IATCDTFGNEDFNNIQDSENNLL
Mmulatta  all identical  ENSMMUG00000023791  658IATCDTFGNEDFNNVQDSENNLL
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000033228  664TEIIPACEHIQTENTEIIPVCGTLENENSDAVQDCEDNLL
Ggallus  no alignment  ENSGALG00000009672  n/a
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000045885  308TSQTLNDTASTSRGQQGNNPRSGVKTRG
Dmelanogaster  no alignment  FBgn0037344  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
533533MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
584584CONFLICTI -> M (in Ref. 5; AAH40951).might get lost (downstream of altered splice site)
608608MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
614614MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
623623CONFLICTD -> G (in Ref. 5; AAH40951).might get lost (downstream of altered splice site)
680680MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
723723MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
726726MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
771771MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
776776MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
796796MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
798798MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
800800MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
802802MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
807807MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
816816MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
818818MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
827827MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
832832MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
841985COMPBIASArg-rich.might get lost (downstream of altered splice site)
878878MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
880880MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
882882MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
963963MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11091109MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11271127MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12251285COMPBIASPro-rich.might get lost (downstream of altered splice site)
13921392MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3816 / 3816
position (AA) of stopcodon in wt / mu AA sequence 1272 / 1272
position of stopcodon in wt / mu cDNA 3934 / 3934
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 119 / 119
chromosome 12
strand -1
last intron/exon boundary 3788
theoretical NMD boundary in CDS 3619
length of CDS 3816
coding sequence (CDS) position 1394
cDNA position
(for ins/del: last normal base / first normal base)		 1512
gDNA position
(for ins/del: last normal base / first normal base)		 64390
chromosomal position
(for ins/del: last normal base / first normal base)		 46321514
original gDNA sequence snippet TACTTTTGGGAATGAAGATTTCAATAATATTCAAGACTCTG
altered gDNA sequence snippet TACTTTTGGGAATGAAGATTACAATAATATTCAAGACTCTG
original cDNA sequence snippet TACTTTTGGGAATGAAGATTTCAATAATATTCAAGACTCTG
altered cDNA sequence snippet TACTTTTGGGAATGAAGATTACAATAATATTCAAGACTCTG
wildtype AA sequence MFSSVSHSGE SSFTYRAYCT EFIEASEISA LIRQKRHELE LSWFPDTLPG IGRIGFIPWN
VETEVLPLIS SVLPRTIFPT STISFEHFGT SCKGYALAHT QEGEEKKQTS GTSNTRGSRR
KPAMTTPTRR STRNTRAETA SQSQRSPISD NSGCDAPGNS NPSLSVPSSA ESEKQTRQAP
KRKSVRRGRK PPLLKKKLRS SVAAPEKSSS NDSVDEETAE SDTSPVLEKE HQPDVDSSNI
CTVQTHVENQ SANCLKSCNE QIEESEKHTA NYDTEERVGS SSSESCAQDL PVLVGEEGEV
KKLENTGIEA NVLCLESEIS ENILEKGGDP LEKQDQISGL SQSEVKTDVC TVHLPNDFPT
CLTSESKVYQ PVSCPLSDLS ENVESVVNEE KITESSLVEI TEHKDFTLKT EELIESPKLE
SSEGEIIQTV DRQSVKSPEV QLLGHVETED VEIIATCDTF GNEDFNNIQD SENNLLKNNL
LNTKLEKSLE EKNESLTEHP RSTELPKTHI EQIQKHFSED NNEMIPMECD SFCSDQNESE
VEPSVNADLK QMNENSVTHC SENNMPSSDL ADEKVETVSQ PSESPKDTID KTKKPRTRRS
RFHSPSTTWS PNKDTPQEKK RPQSPSPRRE TGKESRKSQS PSPKNESARG RKKSRSQSPK
KDIARERRQS QSRSPKRDTT RESRRSESLS PRRETSRENK RSQPRVKDSS PGEKSRSQSR
ERESDRDGQR RERERRTRKW SRSRSHSRSP SRCRTKSKSS SFGRIDRDSY SPRWKGRWAN
DGWRCPRGND RYRKNDPEKQ NENTRKEKND IHLDADDPNS ADKHRNDCPN WITEKINSGP
DPRTRNPEKL KESHWEENRN ENSGNSWNKN FGSGWVSNRG RGRGNRGRGT YRSSFAYKDQ
NENRWQNRKP LSGNSNSSGS ESFKFVEQQS YKRKSEQEFS FDTPADRSGW TSASSWAVRK
TLPADVQNYY SRRGRNSSGP QSGWMKQEEE TSGQDSSLKD QTNQQVDGSQ LPINMMQPQM
NVMQQQMNAQ HQPMNIFPYP VGVHAPLMNI QRNPFNIHPQ LPLHLHTGVP LMQVATPTSV
SQGLPPPPPP PPPSQQVNYI ASQPDGKQLQ GIPSSSHVSN NMSTPVLPAP TAAPGNTGMV
QGPSSGNTSS SSHSKASNAA VKLAESKVSV AVEASADSSK TDKKLQIQEK AAQEVKLAIK
PFYQNKDITK EEYKEIVRKA VDKVCHSKSG EVNSTKVANL VKAYVDKYKY SRKGSQKKTL
EEPVSTEKNI G*
mutated AA sequence MFSSVSHSGE SSFTYRAYCT EFIEASEISA LIRQKRHELE LSWFPDTLPG IGRIGFIPWN
VETEVLPLIS SVLPRTIFPT STISFEHFGT SCKGYALAHT QEGEEKKQTS GTSNTRGSRR
KPAMTTPTRR STRNTRAETA SQSQRSPISD NSGCDAPGNS NPSLSVPSSA ESEKQTRQAP
KRKSVRRGRK PPLLKKKLRS SVAAPEKSSS NDSVDEETAE SDTSPVLEKE HQPDVDSSNI
CTVQTHVENQ SANCLKSCNE QIEESEKHTA NYDTEERVGS SSSESCAQDL PVLVGEEGEV
KKLENTGIEA NVLCLESEIS ENILEKGGDP LEKQDQISGL SQSEVKTDVC TVHLPNDFPT
CLTSESKVYQ PVSCPLSDLS ENVESVVNEE KITESSLVEI TEHKDFTLKT EELIESPKLE
SSEGEIIQTV DRQSVKSPEV QLLGHVETED VEIIATCDTF GNEDYNNIQD SENNLLKNNL
LNTKLEKSLE EKNESLTEHP RSTELPKTHI EQIQKHFSED NNEMIPMECD SFCSDQNESE
VEPSVNADLK QMNENSVTHC SENNMPSSDL ADEKVETVSQ PSESPKDTID KTKKPRTRRS
RFHSPSTTWS PNKDTPQEKK RPQSPSPRRE TGKESRKSQS PSPKNESARG RKKSRSQSPK
KDIARERRQS QSRSPKRDTT RESRRSESLS PRRETSRENK RSQPRVKDSS PGEKSRSQSR
ERESDRDGQR RERERRTRKW SRSRSHSRSP SRCRTKSKSS SFGRIDRDSY SPRWKGRWAN
DGWRCPRGND RYRKNDPEKQ NENTRKEKND IHLDADDPNS ADKHRNDCPN WITEKINSGP
DPRTRNPEKL KESHWEENRN ENSGNSWNKN FGSGWVSNRG RGRGNRGRGT YRSSFAYKDQ
NENRWQNRKP LSGNSNSSGS ESFKFVEQQS YKRKSEQEFS FDTPADRSGW TSASSWAVRK
TLPADVQNYY SRRGRNSSGP QSGWMKQEEE TSGQDSSLKD QTNQQVDGSQ LPINMMQPQM
NVMQQQMNAQ HQPMNIFPYP VGVHAPLMNI QRNPFNIHPQ LPLHLHTGVP LMQVATPTSV
SQGLPPPPPP PPPSQQVNYI ASQPDGKQLQ GIPSSSHVSN NMSTPVLPAP TAAPGNTGMV
QGPSSGNTSS SSHSKASNAA VKLAESKVSV AVEASADSSK TDKKLQIQEK AAQEVKLAIK
PFYQNKDITK EEYKEIVRKA VDKVCHSKSG EVNSTKVANL VKAYVDKYKY SRKGSQKKTL
EEPVSTEKNI G*
speed 0.35 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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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999953 (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) chr12:46321514A>TN/A show variant in all transcripts   IGV
HGNC symbol SCAF11
Ensembl transcript ID ENST00000419565
Genbank transcript ID N/A
UniProt peptide Q99590
alteration type single base exchange
alteration region CDS
DNA changes c.1970T>A
cDNA.2227T>A
g.64390T>A
AA changes F657Y Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 657
frameshift no
known variant Reference ID: rs7315731
databasehomozygous (T/T)heterozygousallele carriers
1000G44410651509
ExAC13157645319610
regulatory features H3K27me1, Histone, Histone 3 Lysine 27 mono-methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6990
0.4950
(flanking)-0.3170
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased64382wt: 0.37 / mu: 0.79wt: GGGAATGAAGATTTC
mu: GGGAATGAAGATTAC		 GAAT|gaag
distance from splice site 1129
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      657IATCDTFGNEDFNNIQDSENNLLK
mutated  all conserved    657IATCDTFGNEDYNNI
Ptroglodytes  all identical  ENSPTRG00000004854  657IATCDTFGNEDFNNI
Mmulatta  all identical  ENSMMUG00000023791  658IATCDTFGNEDFNN
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000033228  658IPACEHIQTENTEIIPACEHIQTENTEIIPVCGTLENENSDAVQDCEDNLL
Ggallus  no alignment  ENSGALG00000009672  n/a
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000045885  308TSQTLNDTASTSRGQQGNNPRSGVKTRG
Dmelanogaster  no alignment  FBgn0037344  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
680680MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
723723MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
726726MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
771771MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
776776MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
796796MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
798798MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
800800MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
802802MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
807807MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
816816MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
818818MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
827827MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
832832MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
841985COMPBIASArg-rich.might get lost (downstream of altered splice site)
878878MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
880880MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
882882MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
963963MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11091109MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
11271127MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
12251285COMPBIASPro-rich.might get lost (downstream of altered splice site)
13921392MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4392 / 4392
position (AA) of stopcodon in wt / mu AA sequence 1464 / 1464
position of stopcodon in wt / mu cDNA 4649 / 4649
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 258 / 258
chromosome 12
strand -1
last intron/exon boundary 4503
theoretical NMD boundary in CDS 4195
length of CDS 4392
coding sequence (CDS) position 1970
cDNA position
(for ins/del: last normal base / first normal base)		 2227
gDNA position
(for ins/del: last normal base / first normal base)		 64390
chromosomal position
(for ins/del: last normal base / first normal base)		 46321514
original gDNA sequence snippet TACTTTTGGGAATGAAGATTTCAATAATATTCAAGACTCTG
altered gDNA sequence snippet TACTTTTGGGAATGAAGATTACAATAATATTCAAGACTCTG
original cDNA sequence snippet TACTTTTGGGAATGAAGATTTCAATAATATTCAAGACTCTG
altered cDNA sequence snippet TACTTTTGGGAATGAAGATTACAATAATATTCAAGACTCTG
wildtype AA sequence MKKKTVCTLN MGDKKYEDME GEENGDNTIS TGLLYSEADR CPICLNCLLE KEVGFPESCN
HVFCMTCILK WAETLASCPI DRKPFQAVFK FSALEGYVKV QVKKQLRETK DKKNENSFEK
QVSCHENSKS CIRRKAIVRE DLLSAKVCDL KWIHRNSLYS ETGGKKNAAI KINKPQRSNW
STNQCFRNFF SNMFSSVSHS GESSFTYRAY CTEFIEASEI SALIRQKRHE LELSWFPDTL
PGIGRIGFIP WNVETEVLPL ISSVLPRTIF PTSTISFEHF GTSCKGYALA HTQEGEEKKQ
TSGTSNTRGS RRKPAMTTPT RRSTRNTRAE TASQSQRSPI SDNSGCDAPG NSNPSLSVPS
SAESEKQTRQ APKRKSVRRG RKPPLLKKKL RSSVAAPEKS SSNDSVDEET AESDTSPVLE
KEHQPDVDSS NICTVQTHVE NQSANCLKSC NEQIEESEKH TANYDTEERV GSSSSESCAQ
DLPVLVGEEG EVKKLENTGI EANVLCLESE ISENILEKGG DPLEKQDQIS GLSQSEVKTD
VCTVHLPNDF PTCLTSESKV YQPVSCPLSD LSENVESVVN EEKITESSLV EITEHKDFTL
KTEELIESPK LESSEGEIIQ TVDRQSVKSP EVQLLGHVET EDVEIIATCD TFGNEDFNNI
QDSENNLLKN NLLNTKLEKS LEEKNESLTE HPRSTELPKT HIEQIQKHFS EDNNEMIPME
CDSFCSDQNE SEVEPSVNAD LKQMNENSVT HCSENNMPSS DLADEKVETV SQPSESPKDT
IDKTKKPRTR RSRFHSPSTT WSPNKDTPQE KKRPQSPSPR RETGKESRKS QSPSPKNESA
RGRKKSRSQS PKKDIARERR QSQSRSPKRD TTRESRRSES LSPRRETSRE NKRSQPRVKD
SSPGEKSRSQ SRERESDRDG QRRERERRTR KWSRSRSHSR SPSRCRTKSK SSSFGRIDRD
SYSPRWKGRW ANDGWRCPRG NDRYRKNDPE KQNENTRKEK NDIHLDADDP NSADKHRNDC
PNWITEKINS GPDPRTRNPE KLKESHWEEN RNENSGNSWN KNFGSGWVSN RGRGRGNRGR
GTYRSSFAYK DQNENRWQNR KPLSGNSNSS GSESFKFVEQ QSYKRKSEQE FSFDTPADRS
GWTSASSWAV RKTLPADVQN YYSRRGRNSS GPQSGWMKQE EETSGQDSSL KDQTNQQVDG
SQLPINMMQP QMNVMQQQMN AQHQPMNIFP YPVGVHAPLM NIQRNPFNIH PQLPLHLHTG
VPLMQVATPT SVSQGLPPPP PPPPPSQQVN YIASQPDGKQ LQGIPSSSHV SNNMSTPVLP
APTAAPGNTG MVQGPSSGNT SSSSHSKASN AAVKLAESKV SVAVEASADS SKTDKKLQIQ
EKAAQEVKLA IKPFYQNKDI TKEEYKEIVR KAVDKVCHSK SGEVNSTKVA NLVKAYVDKY
KYSRKGSQKK TLEEPVSTEK NIG*
mutated AA sequence MKKKTVCTLN MGDKKYEDME GEENGDNTIS TGLLYSEADR CPICLNCLLE KEVGFPESCN
HVFCMTCILK WAETLASCPI DRKPFQAVFK FSALEGYVKV QVKKQLRETK DKKNENSFEK
QVSCHENSKS CIRRKAIVRE DLLSAKVCDL KWIHRNSLYS ETGGKKNAAI KINKPQRSNW
STNQCFRNFF SNMFSSVSHS GESSFTYRAY CTEFIEASEI SALIRQKRHE LELSWFPDTL
PGIGRIGFIP WNVETEVLPL ISSVLPRTIF PTSTISFEHF GTSCKGYALA HTQEGEEKKQ
TSGTSNTRGS RRKPAMTTPT RRSTRNTRAE TASQSQRSPI SDNSGCDAPG NSNPSLSVPS
SAESEKQTRQ APKRKSVRRG RKPPLLKKKL RSSVAAPEKS SSNDSVDEET AESDTSPVLE
KEHQPDVDSS NICTVQTHVE NQSANCLKSC NEQIEESEKH TANYDTEERV GSSSSESCAQ
DLPVLVGEEG EVKKLENTGI EANVLCLESE ISENILEKGG DPLEKQDQIS GLSQSEVKTD
VCTVHLPNDF PTCLTSESKV YQPVSCPLSD LSENVESVVN EEKITESSLV EITEHKDFTL
KTEELIESPK LESSEGEIIQ TVDRQSVKSP EVQLLGHVET EDVEIIATCD TFGNEDYNNI
QDSENNLLKN NLLNTKLEKS LEEKNESLTE HPRSTELPKT HIEQIQKHFS EDNNEMIPME
CDSFCSDQNE SEVEPSVNAD LKQMNENSVT HCSENNMPSS DLADEKVETV SQPSESPKDT
IDKTKKPRTR RSRFHSPSTT WSPNKDTPQE KKRPQSPSPR RETGKESRKS QSPSPKNESA
RGRKKSRSQS PKKDIARERR QSQSRSPKRD TTRESRRSES LSPRRETSRE NKRSQPRVKD
SSPGEKSRSQ SRERESDRDG QRRERERRTR KWSRSRSHSR SPSRCRTKSK SSSFGRIDRD
SYSPRWKGRW ANDGWRCPRG NDRYRKNDPE KQNENTRKEK NDIHLDADDP NSADKHRNDC
PNWITEKINS GPDPRTRNPE KLKESHWEEN RNENSGNSWN KNFGSGWVSN RGRGRGNRGR
GTYRSSFAYK DQNENRWQNR KPLSGNSNSS GSESFKFVEQ QSYKRKSEQE FSFDTPADRS
GWTSASSWAV RKTLPADVQN YYSRRGRNSS GPQSGWMKQE EETSGQDSSL KDQTNQQVDG
SQLPINMMQP QMNVMQQQMN AQHQPMNIFP YPVGVHAPLM NIQRNPFNIH PQLPLHLHTG
VPLMQVATPT SVSQGLPPPP PPPPPSQQVN YIASQPDGKQ LQGIPSSSHV SNNMSTPVLP
APTAAPGNTG MVQGPSSGNT SSSSHSKASN AAVKLAESKV SVAVEASADS SKTDKKLQIQ
EKAAQEVKLA IKPFYQNKDI TKEEYKEIVR KAVDKVCHSK SGEVNSTKVA NLVKAYVDKY
KYSRKGSQKK TLEEPVSTEK NIG*
speed 1.19 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