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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000374088
Querying Taster for transcript #2: ENST00000223791
Querying Taster for transcript #3: ENST00000374075
Querying Taster for transcript #4: ENST00000307564
Querying Taster for transcript #5: ENST00000374079
MT speed 0 s - this script 6.668302 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
AKNApolymorphism_automatic1.3988810110277e-14simple_aaeaffectedS1222Psingle base exchangers2250242show file
AKNApolymorphism_automatic1.3988810110277e-14simple_aaeaffectedS1303Psingle base exchangers2250242show file
AKNApolymorphism_automatic1.3988810110277e-14simple_aaeaffectedS763Psingle base exchangers2250242show file
AKNApolymorphism_automatic1.3988810110277e-14simple_aaeaffectedS1303Psingle base exchangers2250242show file
AKNApolymorphism_automatic1.3988810110277e-14simple_aaeaffectedS248Psingle base exchangers2250242show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999986 (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) chr9:117103973A>GN/A show variant in all transcripts   IGV
HGNC symbol AKNA
Ensembl transcript ID ENST00000374075
Genbank transcript ID N/A
UniProt peptide Q7Z591
alteration type single base exchange
alteration region CDS
DNA changes c.3664T>C
cDNA.3736T>C
g.52713T>C
AA changes S1222P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1222
frameshift no
known variant Reference ID: rs2250242
databasehomozygous (G/G)heterozygousallele carriers
1000G101810202038
ExAC17473-217915294
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1080.007
00
(flanking)-0.1210
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased52704wt: 0.9988 / mu: 0.9988 (marginal change - not scored)wt: CGAGGAGAAAAGCAT
mu: CGAGGAGAAAAGCAC		 AGGA|gaaa
Donor increased52714wt: 0.55 / mu: 0.84wt: AGCATCTTCAACTCC
mu: AGCACCTTCAACTCC		 CATC|ttca
distance from splice site 33
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1222GAEKATTRRKASSTPSPKQRSKQA
mutated  not conserved    1222GAEKATTRRKAPSTPSPKQRSKQ
Ptroglodytes  not conserved  ENSPTRG00000021288  1250GAEKATTRRKAPSTPSPKQRSKQ
Mmulatta  not conserved  ENSMMUG00000008018  1303GAEKATKRRKAPSTPSPKQRSKQ
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000039158  1276--EKNTP--KKPSTPILKRKNRQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
14291429CONFLICTQ -> P (in Ref. 3; BAD18725).might get lost (downstream of altered splice site)
14351436CONFLICTGS -> AP (in Ref. 3; BAD18725).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4077 / 4077
position (AA) of stopcodon in wt / mu AA sequence 1359 / 1359
position of stopcodon in wt / mu cDNA 4149 / 4149
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 73 / 73
chromosome 9
strand -1
last intron/exon boundary 3897
theoretical NMD boundary in CDS 3774
length of CDS 4077
coding sequence (CDS) position 3664
cDNA position
(for ins/del: last normal base / first normal base)		 3736
gDNA position
(for ins/del: last normal base / first normal base)		 52713
chromosomal position
(for ins/del: last normal base / first normal base)		 117103973
original gDNA sequence snippet CCACCACGAGGAGAAAAGCATCTTCAACTCCCAGCCCCAAG
altered gDNA sequence snippet CCACCACGAGGAGAAAAGCACCTTCAACTCCCAGCCCCAAG
original cDNA sequence snippet CCACCACGAGGAGAAAAGCATCTTCAACTCCCAGCCCCAAG
altered cDNA sequence snippet CCACCACGAGGAGAAAAGCACCTTCAACTCCCAGCCCCAAG
wildtype AA sequence MLRSEWPVFP EAEAEDVDSP ASSHEPLAWL PQQGRQLDMT EEEPDGTLGS LEVEEAGESS
SRLGYEAGLS LEGHGNTSPM ALGHGQARGW VASGEQASGD KLSEHSEVNP SVELSPARSW
SSGTVSLDHP SDSLDSTWEG ETDGPQPTAL AETLPEGPSH HLLSPDGRTG GSVARATPME
FQDSSAPPAQ SPQHATDRWR RETTRFFCPQ PKEHIWKQTK TSPKPLPSRF IGSISPLNPQ
PRPTRQGRPL PRQGATLAGR SSSNAPKYGR GQLNYPLPDF SKVGPRVRFP KDESYRPPKS
RSHNRKPQAP ARPLIFKSPA EIVQEVLLSS GEAALAKDTP PAHPITRVPQ EFQTPEQATE
LVHQLQEDYH RLLTKYAEAE NTIDQLRLGA KVNLFSDPPQ PNHSIHTGMV PQGTKVLSFT
IPQPRSAEWW PGPAEDPQAS AASGWPSARG DLSPSSLTSM PTLGWLPENR DISEDQSSAE
QTQALASQAS QFLAKVESFE RLIQAGRLMP QDQVKGFQRL KAAHAALEEE YLKACREQHP
AQPLAGSKGT PGRFDPRREL EAEIYRLGSC LEELKEHIDQ TQQEPEPPGS DSALDSTPAL
PCLHQPTHLP APSGQAPMPA IKTSCPEPAT TTAAASTGPC PLHVNVEVSS GNSEVEDRPQ
DPLARLRHKE LQMEQVYHGL MERYLSVKSL PEAMRMEEEE EGEEEEEEEG GGDSLEVDGV
AATPGKAEAT RVLPRQCPVQ AEKSHGAPLE EATEKMVSMK PPGFQASLAR DGHMSGLGKA
EAAPPGPGVP PHPPGTKSAA SHQSSMTSLE GSGISERLPQ KPLHRGGGPH LEETWMASPE
TDSGFVGSET SRVSPLTQTP EHRLSHISTA GTLAQPFAAS VPRDGASYPK ARGSLIPRRA
TEPSTPRSQA QRYLSSPSGP LRQRAPNFSL ERTLAAEMAV PGSEFEGHKR ISEQPLPNKT
ISPPPAPAPA AAPLPCGPTE TIPSFLLTRA GRDQAICELQ EEVSRLRLRL EDSLHQPLQG
SPTRPASAFD RPARTRGRPA DSPATWGSHY GSKSTERLPG EPRGEEQIVP PGRQRARSSS
VPREVLRLSL SSESELPSLP LFSEKSKTTK DSPQAARDGK RGVGSAGWPD RVTFRGQYTG
HEYHVLSPKA VPKGNGTVSC PHCRPIRTQD AGGAVTGDPL GPPPADTLQC PLCGQVGSPP
EADGPGSATS GAEKATTRRK ASSTPSPKQR SKQAGSSPRP PPGLWYLATA PPAPAPPAFA
YISSVPIMPY PPAAVYYAPA GPTSAQPAAK WPPTASPPPA RRHRHSIQLD LGDLEELNKA
LSRAVQAAES VRSTTRQMRS SLSADLRQAH SLRGSCLF*
mutated AA sequence MLRSEWPVFP EAEAEDVDSP ASSHEPLAWL PQQGRQLDMT EEEPDGTLGS LEVEEAGESS
SRLGYEAGLS LEGHGNTSPM ALGHGQARGW VASGEQASGD KLSEHSEVNP SVELSPARSW
SSGTVSLDHP SDSLDSTWEG ETDGPQPTAL AETLPEGPSH HLLSPDGRTG GSVARATPME
FQDSSAPPAQ SPQHATDRWR RETTRFFCPQ PKEHIWKQTK TSPKPLPSRF IGSISPLNPQ
PRPTRQGRPL PRQGATLAGR SSSNAPKYGR GQLNYPLPDF SKVGPRVRFP KDESYRPPKS
RSHNRKPQAP ARPLIFKSPA EIVQEVLLSS GEAALAKDTP PAHPITRVPQ EFQTPEQATE
LVHQLQEDYH RLLTKYAEAE NTIDQLRLGA KVNLFSDPPQ PNHSIHTGMV PQGTKVLSFT
IPQPRSAEWW PGPAEDPQAS AASGWPSARG DLSPSSLTSM PTLGWLPENR DISEDQSSAE
QTQALASQAS QFLAKVESFE RLIQAGRLMP QDQVKGFQRL KAAHAALEEE YLKACREQHP
AQPLAGSKGT PGRFDPRREL EAEIYRLGSC LEELKEHIDQ TQQEPEPPGS DSALDSTPAL
PCLHQPTHLP APSGQAPMPA IKTSCPEPAT TTAAASTGPC PLHVNVEVSS GNSEVEDRPQ
DPLARLRHKE LQMEQVYHGL MERYLSVKSL PEAMRMEEEE EGEEEEEEEG GGDSLEVDGV
AATPGKAEAT RVLPRQCPVQ AEKSHGAPLE EATEKMVSMK PPGFQASLAR DGHMSGLGKA
EAAPPGPGVP PHPPGTKSAA SHQSSMTSLE GSGISERLPQ KPLHRGGGPH LEETWMASPE
TDSGFVGSET SRVSPLTQTP EHRLSHISTA GTLAQPFAAS VPRDGASYPK ARGSLIPRRA
TEPSTPRSQA QRYLSSPSGP LRQRAPNFSL ERTLAAEMAV PGSEFEGHKR ISEQPLPNKT
ISPPPAPAPA AAPLPCGPTE TIPSFLLTRA GRDQAICELQ EEVSRLRLRL EDSLHQPLQG
SPTRPASAFD RPARTRGRPA DSPATWGSHY GSKSTERLPG EPRGEEQIVP PGRQRARSSS
VPREVLRLSL SSESELPSLP LFSEKSKTTK DSPQAARDGK RGVGSAGWPD RVTFRGQYTG
HEYHVLSPKA VPKGNGTVSC PHCRPIRTQD AGGAVTGDPL GPPPADTLQC PLCGQVGSPP
EADGPGSATS GAEKATTRRK APSTPSPKQR SKQAGSSPRP PPGLWYLATA PPAPAPPAFA
YISSVPIMPY PPAAVYYAPA GPTSAQPAAK WPPTASPPPA RRHRHSIQLD LGDLEELNKA
LSRAVQAAES VRSTTRQMRS SLSADLRQAH SLRGSCLF*
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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999986 (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) chr9:117103973A>GN/A show variant in all transcripts   IGV
HGNC symbol AKNA
Ensembl transcript ID ENST00000374088
Genbank transcript ID N/A
UniProt peptide Q7Z591
alteration type single base exchange
alteration region CDS
DNA changes c.3907T>C
cDNA.4124T>C
g.52713T>C
AA changes S1303P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1303
frameshift no
known variant Reference ID: rs2250242
databasehomozygous (G/G)heterozygousallele carriers
1000G101810202038
ExAC17473-217915294
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1080.007
00
(flanking)-0.1210
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased52704wt: 0.9988 / mu: 0.9988 (marginal change - not scored)wt: CGAGGAGAAAAGCAT
mu: CGAGGAGAAAAGCAC		 AGGA|gaaa
Donor increased52714wt: 0.55 / mu: 0.84wt: AGCATCTTCAACTCC
mu: AGCACCTTCAACTCC		 CATC|ttca
distance from splice site 33
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1303GAEKATTRRKASSTPSPKQRSKQA
mutated  not conserved    1303GAEKATTRRKAPSTPSPKQRSKQ
Ptroglodytes  not conserved  ENSPTRG00000021288  1250GAEKATTRRKAPSTPSPKQRSKQ
Mmulatta  not conserved  ENSMMUG00000008018  1303GAEKATKRRKAPSTPSPKQRSK
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000039158  1275--EKNTP--KKPSTPILKRKNRQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
14291429CONFLICTQ -> P (in Ref. 3; BAD18725).might get lost (downstream of altered splice site)
14351436CONFLICTGS -> AP (in Ref. 3; BAD18725).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4320 / 4320
position (AA) of stopcodon in wt / mu AA sequence 1440 / 1440
position of stopcodon in wt / mu cDNA 4537 / 4537
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 218 / 218
chromosome 9
strand -1
last intron/exon boundary 4285
theoretical NMD boundary in CDS 4017
length of CDS 4320
coding sequence (CDS) position 3907
cDNA position
(for ins/del: last normal base / first normal base)		 4124
gDNA position
(for ins/del: last normal base / first normal base)		 52713
chromosomal position
(for ins/del: last normal base / first normal base)		 117103973
original gDNA sequence snippet CCACCACGAGGAGAAAAGCATCTTCAACTCCCAGCCCCAAG
altered gDNA sequence snippet CCACCACGAGGAGAAAAGCACCTTCAACTCCCAGCCCCAAG
original cDNA sequence snippet CCACCACGAGGAGAAAAGCATCTTCAACTCCCAGCCCCAAG
altered cDNA sequence snippet CCACCACGAGGAGAAAAGCACCTTCAACTCCCAGCCCCAAG
wildtype AA sequence MASSETEIRW AEPGLGKGPQ RRRWAWAEDK RDVDRSSSQS WEEERLFPNA TSPELLEDFR
LAQQHLPPLE WDPHPQPDGH QDSESGETSG EEAEAEDVDS PASSHEPLAW LPQQGRQLDM
TEEEPDGTLG SLEVEEAGES SSRLGYEAGL SLEGHGNTSP MALGHGQARG WVASGEQASG
DKLSEHSEVN PSVELSPARS WSSGTVSLDH PSDSLDSTWE GETDGPQPTA LAETLPEGPS
HHLLSPDGRT GGSVARATPM EFQDSSAPPA QSPQHATDRW RRETTRFFCP QPKEHIWKQT
KTSPKPLPSR FIGSISPLNP QPRPTRQGRP LPRQGATLAG RSSSNAPKYG RGQLNYPLPD
FSKVGPRVRF PKDESYRPPK SRSHNRKPQA PARPLIFKSP AEIVQEVLLS SGEAALAKDT
PPAHPITRVP QEFQTPEQAT ELVHQLQEDY HRLLTKYAEA ENTIDQLRLG AKVNLFSDPP
QPNHSIHTGM VPQGTKVLSF TIPQPRSAEW WPGPAEDPQA SAASGWPSAR GDLSPSSLTS
MPTLGWLPEN RDISEDQSSA EQTQALASQA SQFLAKVESF ERLIQAGRLM PQDQVKGFQR
LKAAHAALEE EYLKACREQH PAQPLAGSKG TPGRFDPRRE LEAEIYRLGS CLEELKEHID
QTQQEPEPPG SDSALDSTPA LPCLHQPTHL PAPSGQAPMP AIKTSCPEPA TTTAAASTGP
CPLHVNVEVS SGNSEVEDRP QDPLARLRHK ELQMEQVYHG LMERYLSVKS LPEAMRMEEE
EEGEEEEEEE GGGDSLEVDG VAATPGKAEA TRVLPRQCPV QAEKSHGAPL EEATEKMVSM
KPPGFQASLA RDGHMSGLGK AEAAPPGPGV PPHPPGTKSA ASHQSSMTSL EGSGISERLP
QKPLHRGGGP HLEETWMASP ETDSGFVGSE TSRVSPLTQT PEHRLSHIST AGTLAQPFAA
SVPRDGASYP KARGSLIPRR ATEPSTPRSQ AQRYLSSPSG PLRQRAPNFS LERTLAAEMA
VPGSEFEGHK RISEQPLPNK TISPPPAPAP AAAPLPCGPT ETIPSFLLTR AGRDQAICEL
QEEVSRLRLR LEDSLHQPLQ GSPTRPASAF DRPARTRGRP ADSPATWGSH YGSKSTERLP
GEPRGEEQIV PPGRQRARSS SVPREVLRLS LSSESELPSL PLFSEKSKTT KDSPQAARDG
KRGVGSAGWP DRVTFRGQYT GHEYHVLSPK AVPKGNGTVS CPHCRPIRTQ DAGGAVTGDP
LGPPPADTLQ CPLCGQVGSP PEADGPGSAT SGAEKATTRR KASSTPSPKQ RSKQAGSSPR
PPPGLWYLAT APPAPAPPAF AYISSVPIMP YPPAAVYYAP AGPTSAQPAA KWPPTASPPP
ARRHRHSIQL DLGDLEELNK ALSRAVQAAE SVRSTTRQMR SSLSADLRQA HSLRGSCLF*
mutated AA sequence MASSETEIRW AEPGLGKGPQ RRRWAWAEDK RDVDRSSSQS WEEERLFPNA TSPELLEDFR
LAQQHLPPLE WDPHPQPDGH QDSESGETSG EEAEAEDVDS PASSHEPLAW LPQQGRQLDM
TEEEPDGTLG SLEVEEAGES SSRLGYEAGL SLEGHGNTSP MALGHGQARG WVASGEQASG
DKLSEHSEVN PSVELSPARS WSSGTVSLDH PSDSLDSTWE GETDGPQPTA LAETLPEGPS
HHLLSPDGRT GGSVARATPM EFQDSSAPPA QSPQHATDRW RRETTRFFCP QPKEHIWKQT
KTSPKPLPSR FIGSISPLNP QPRPTRQGRP LPRQGATLAG RSSSNAPKYG RGQLNYPLPD
FSKVGPRVRF PKDESYRPPK SRSHNRKPQA PARPLIFKSP AEIVQEVLLS SGEAALAKDT
PPAHPITRVP QEFQTPEQAT ELVHQLQEDY HRLLTKYAEA ENTIDQLRLG AKVNLFSDPP
QPNHSIHTGM VPQGTKVLSF TIPQPRSAEW WPGPAEDPQA SAASGWPSAR GDLSPSSLTS
MPTLGWLPEN RDISEDQSSA EQTQALASQA SQFLAKVESF ERLIQAGRLM PQDQVKGFQR
LKAAHAALEE EYLKACREQH PAQPLAGSKG TPGRFDPRRE LEAEIYRLGS CLEELKEHID
QTQQEPEPPG SDSALDSTPA LPCLHQPTHL PAPSGQAPMP AIKTSCPEPA TTTAAASTGP
CPLHVNVEVS SGNSEVEDRP QDPLARLRHK ELQMEQVYHG LMERYLSVKS LPEAMRMEEE
EEGEEEEEEE GGGDSLEVDG VAATPGKAEA TRVLPRQCPV QAEKSHGAPL EEATEKMVSM
KPPGFQASLA RDGHMSGLGK AEAAPPGPGV PPHPPGTKSA ASHQSSMTSL EGSGISERLP
QKPLHRGGGP HLEETWMASP ETDSGFVGSE TSRVSPLTQT PEHRLSHIST AGTLAQPFAA
SVPRDGASYP KARGSLIPRR ATEPSTPRSQ AQRYLSSPSG PLRQRAPNFS LERTLAAEMA
VPGSEFEGHK RISEQPLPNK TISPPPAPAP AAAPLPCGPT ETIPSFLLTR AGRDQAICEL
QEEVSRLRLR LEDSLHQPLQ GSPTRPASAF DRPARTRGRP ADSPATWGSH YGSKSTERLP
GEPRGEEQIV PPGRQRARSS SVPREVLRLS LSSESELPSL PLFSEKSKTT KDSPQAARDG
KRGVGSAGWP DRVTFRGQYT GHEYHVLSPK AVPKGNGTVS CPHCRPIRTQ DAGGAVTGDP
LGPPPADTLQ CPLCGQVGSP PEADGPGSAT SGAEKATTRR KAPSTPSPKQ RSKQAGSSPR
PPPGLWYLAT APPAPAPPAF AYISSVPIMP YPPAAVYYAP AGPTSAQPAA KWPPTASPPP
ARRHRHSIQL DLGDLEELNK ALSRAVQAAE SVRSTTRQMR SSLSADLRQA HSLRGSCLF*
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: 0.999999999999986 (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) chr9:117103973A>GN/A show variant in all transcripts   IGV
HGNC symbol AKNA
Ensembl transcript ID ENST00000223791
Genbank transcript ID N/A
UniProt peptide Q7Z591
alteration type single base exchange
alteration region CDS
DNA changes c.2287T>C
cDNA.3112T>C
g.52713T>C
AA changes S763P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 763
frameshift no
known variant Reference ID: rs2250242
databasehomozygous (G/G)heterozygousallele carriers
1000G101810202038
ExAC17473-217915294
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1080.007
00
(flanking)-0.1210
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased52704wt: 0.9988 / mu: 0.9988 (marginal change - not scored)wt: CGAGGAGAAAAGCAT
mu: CGAGGAGAAAAGCAC		 AGGA|gaaa
Donor increased52714wt: 0.55 / mu: 0.84wt: AGCATCTTCAACTCC
mu: AGCACCTTCAACTCC		 CATC|ttca
distance from splice site 33
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      763GAEKATTRRKASSTPSPKQRSKQA
mutated  not conserved    763GAEKATTRRKAPSTPSPKQRSKQ
Ptroglodytes  not conserved  ENSPTRG00000021288  1250GAEKATTRRKAPSTPSPKQRSKQ
Mmulatta  not conserved  ENSMMUG00000008018  1303GAEKATKRRKAPSTPSPKQRSKQ
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000039158  1276--EKNTP--KKPSTPILKRKNRQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
771804REGIONPEST.might get lost (downstream of altered splice site)
799799CONFLICTD -> V (in Ref. 3; BAD18725/BAC85132).might get lost (downstream of altered splice site)
816816CONFLICTR -> S (in Ref. 3; BAD18725).might get lost (downstream of altered splice site)
839839MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
848848MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
911932REGIONPEST.might get lost (downstream of altered splice site)
10371037CONFLICTL -> F (in Ref. 6; AAK83024).might get lost (downstream of altered splice site)
11031103CONFLICTP -> Q (in Ref. 3; BAD18725).might get lost (downstream of altered splice site)
11141114CONFLICTA -> P (in Ref. 3; BAD18725).might get lost (downstream of altered splice site)
11151123DNA_BINDA.T hook.might get lost (downstream of altered splice site)
14291429CONFLICTQ -> P (in Ref. 3; BAD18725).might get lost (downstream of altered splice site)
14351436CONFLICTGS -> AP (in Ref. 3; BAD18725).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2700 / 2700
position (AA) of stopcodon in wt / mu AA sequence 900 / 900
position of stopcodon in wt / mu cDNA 3525 / 3525
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 826 / 826
chromosome 9
strand -1
last intron/exon boundary 3273
theoretical NMD boundary in CDS 2397
length of CDS 2700
coding sequence (CDS) position 2287
cDNA position
(for ins/del: last normal base / first normal base)		 3112
gDNA position
(for ins/del: last normal base / first normal base)		 52713
chromosomal position
(for ins/del: last normal base / first normal base)		 117103973
original gDNA sequence snippet CCACCACGAGGAGAAAAGCATCTTCAACTCCCAGCCCCAAG
altered gDNA sequence snippet CCACCACGAGGAGAAAAGCACCTTCAACTCCCAGCCCCAAG
original cDNA sequence snippet CCACCACGAGGAGAAAAGCATCTTCAACTCCCAGCCCCAAG
altered cDNA sequence snippet CCACCACGAGGAGAAAAGCACCTTCAACTCCCAGCCCCAAG
wildtype AA sequence MPTLGWLPEN RDISEDQSSA EQTQALASQA SQFLAKVESF ERLIQAGRLM PQDQVKGFQR
LKAAHAALEE EYLKACREQH PAQPLAGSKG TPGRFDPRRE LEAEIYRLGS CLEELKEHID
QTQQEPEPPG SDSALDSTPA LPCLHQPTHL PAPSGQAPMP AIKTSCPEPA TTTAAASTGP
CPLHVNVEVS SGNSEVEDRP QDPLARLRHK ELQMEQVYHG LMERYLSVKS LPEAMRMEEE
EEGEEEEEEE GGGDSLEVDG VAATPGKAEA TRVLPRQCPV QAEKSHGAPL EEATEKMVSM
KPPGFQASLA RDGHMSGLGK AEAAPPGPGV PPHPPGTKSA ASHQSSMTSL EGSGISERLP
QKPLHRGGGP HLEETWMASP ETDSGFVGSE TSRVSPLTQT PEHRLSHIST AGTLAQPFAA
SVPRDGASYP KARGSLIPRR ATEPSTPRSQ AQRYLSSPSG PLRQRAPNFS LERTLAAEMA
VPGSEFEGHK RISEQPLPNK TISPPPAPAP AAAPLPCGPT ETIPSFLLTR AGRDQAICEL
QEEVSRLRLR LEDSLHQPLQ GSPTRPASAF DRPARTRGRP ADSPATWGSH YGSKSTERLP
GEPRGEEQIV PPGRQRARSS SVPREVLRLS LSSESELPSL PLFSEKSKTT KDSPQAARDG
KRGVGSAGWP DRVTFRGQYT GHEYHVLSPK AVPKGNGTVS CPHCRPIRTQ DAGGAVTGDP
LGPPPADTLQ CPLCGQVGSP PEADGPGSAT SGAEKATTRR KASSTPSPKQ RSKQAGSSPR
PPPGLWYLAT APPAPAPPAF AYISSVPIMP YPPAAVYYAP AGPTSAQPAA KWPPTASPPP
ARRHRHSIQL DLGDLEELNK ALSRAVQAAE SVRSTTRQMR SSLSADLRQA HSLRGSCLF*
mutated AA sequence MPTLGWLPEN RDISEDQSSA EQTQALASQA SQFLAKVESF ERLIQAGRLM PQDQVKGFQR
LKAAHAALEE EYLKACREQH PAQPLAGSKG TPGRFDPRRE LEAEIYRLGS CLEELKEHID
QTQQEPEPPG SDSALDSTPA LPCLHQPTHL PAPSGQAPMP AIKTSCPEPA TTTAAASTGP
CPLHVNVEVS SGNSEVEDRP QDPLARLRHK ELQMEQVYHG LMERYLSVKS LPEAMRMEEE
EEGEEEEEEE GGGDSLEVDG VAATPGKAEA TRVLPRQCPV QAEKSHGAPL EEATEKMVSM
KPPGFQASLA RDGHMSGLGK AEAAPPGPGV PPHPPGTKSA ASHQSSMTSL EGSGISERLP
QKPLHRGGGP HLEETWMASP ETDSGFVGSE TSRVSPLTQT PEHRLSHIST AGTLAQPFAA
SVPRDGASYP KARGSLIPRR ATEPSTPRSQ AQRYLSSPSG PLRQRAPNFS LERTLAAEMA
VPGSEFEGHK RISEQPLPNK TISPPPAPAP AAAPLPCGPT ETIPSFLLTR AGRDQAICEL
QEEVSRLRLR LEDSLHQPLQ GSPTRPASAF DRPARTRGRP ADSPATWGSH YGSKSTERLP
GEPRGEEQIV PPGRQRARSS SVPREVLRLS LSSESELPSL PLFSEKSKTT KDSPQAARDG
KRGVGSAGWP DRVTFRGQYT GHEYHVLSPK AVPKGNGTVS CPHCRPIRTQ DAGGAVTGDP
LGPPPADTLQ CPLCGQVGSP PEADGPGSAT SGAEKATTRR KAPSTPSPKQ RSKQAGSSPR
PPPGLWYLAT APPAPAPPAF AYISSVPIMP YPPAAVYYAP AGPTSAQPAA KWPPTASPPP
ARRHRHSIQL DLGDLEELNK ALSRAVQAAE SVRSTTRQMR SSLSADLRQA HSLRGSCLF*
speed 0.97 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: 0.999999999999986 (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) chr9:117103973A>GN/A show variant in all transcripts   IGV
HGNC symbol AKNA
Ensembl transcript ID ENST00000307564
Genbank transcript ID NM_030767
UniProt peptide Q7Z591
alteration type single base exchange
alteration region CDS
DNA changes c.3907T>C
cDNA.4069T>C
g.52713T>C
AA changes S1303P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1303
frameshift no
known variant Reference ID: rs2250242
databasehomozygous (G/G)heterozygousallele carriers
1000G101810202038
ExAC17473-217915294
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1080.007
00
(flanking)-0.1210
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased52704wt: 0.9988 / mu: 0.9988 (marginal change - not scored)wt: CGAGGAGAAAAGCAT
mu: CGAGGAGAAAAGCAC		 AGGA|gaaa
Donor increased52714wt: 0.55 / mu: 0.84wt: AGCATCTTCAACTCC
mu: AGCACCTTCAACTCC		 CATC|ttca
distance from splice site 33
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1303GAEKATTRRKASSTPSPKQRSKQA
mutated  not conserved    1303GAEKATTRRKAPSTPSPKQRSKQ
Ptroglodytes  not conserved  ENSPTRG00000021288  1250GAEKATTRRKAPSTPSPKQRSKQ
Mmulatta  not conserved  ENSMMUG00000008018  1303GAEKATKRRKAPSTPSPKQRSK
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000039158  1275--EKNTP--KKPSTPILKRKNRQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
14291429CONFLICTQ -> P (in Ref. 3; BAD18725).might get lost (downstream of altered splice site)
14351436CONFLICTGS -> AP (in Ref. 3; BAD18725).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4320 / 4320
position (AA) of stopcodon in wt / mu AA sequence 1440 / 1440
position of stopcodon in wt / mu cDNA 4482 / 4482
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 163 / 163
chromosome 9
strand -1
last intron/exon boundary 4230
theoretical NMD boundary in CDS 4017
length of CDS 4320
coding sequence (CDS) position 3907
cDNA position
(for ins/del: last normal base / first normal base)		 4069
gDNA position
(for ins/del: last normal base / first normal base)		 52713
chromosomal position
(for ins/del: last normal base / first normal base)		 117103973
original gDNA sequence snippet CCACCACGAGGAGAAAAGCATCTTCAACTCCCAGCCCCAAG
altered gDNA sequence snippet CCACCACGAGGAGAAAAGCACCTTCAACTCCCAGCCCCAAG
original cDNA sequence snippet CCACCACGAGGAGAAAAGCATCTTCAACTCCCAGCCCCAAG
altered cDNA sequence snippet CCACCACGAGGAGAAAAGCACCTTCAACTCCCAGCCCCAAG
wildtype AA sequence MASSETEIRW AEPGLGKGPQ RRRWAWAEDK RDVDRSSSQS WEEERLFPNA TSPELLEDFR
LAQQHLPPLE WDPHPQPDGH QDSESGETSG EEAEAEDVDS PASSHEPLAW LPQQGRQLDM
TEEEPDGTLG SLEVEEAGES SSRLGYEAGL SLEGHGNTSP MALGHGQARG WVASGEQASG
DKLSEHSEVN PSVELSPARS WSSGTVSLDH PSDSLDSTWE GETDGPQPTA LAETLPEGPS
HHLLSPDGRT GGSVARATPM EFQDSSAPPA QSPQHATDRW RRETTRFFCP QPKEHIWKQT
KTSPKPLPSR FIGSISPLNP QPRPTRQGRP LPRQGATLAG RSSSNAPKYG RGQLNYPLPD
FSKVGPRVRF PKDESYRPPK SRSHNRKPQA PARPLIFKSP AEIVQEVLLS SGEAALAKDT
PPAHPITRVP QEFQTPEQAT ELVHQLQEDY HRLLTKYAEA ENTIDQLRLG AKVNLFSDPP
QPNHSIHTGM VPQGTKVLSF TIPQPRSAEW WPGPAEDPQA SAASGWPSAR GDLSPSSLTS
MPTLGWLPEN RDISEDQSSA EQTQALASQA SQFLAKVESF ERLIQAGRLM PQDQVKGFQR
LKAAHAALEE EYLKACREQH PAQPLAGSKG TPGRFDPRRE LEAEIYRLGS CLEELKEHID
QTQQEPEPPG SDSALDSTPA LPCLHQPTHL PAPSGQAPMP AIKTSCPEPA TTTAAASTGP
CPLHVNVEVS SGNSEVEDRP QDPLARLRHK ELQMEQVYHG LMERYLSVKS LPEAMRMEEE
EEGEEEEEEE GGGDSLEVDG VAATPGKAEA TRVLPRQCPV QAEKSHGAPL EEATEKMVSM
KPPGFQASLA RDGHMSGLGK AEAAPPGPGV PPHPPGTKSA ASHQSSMTSL EGSGISERLP
QKPLHRGGGP HLEETWMASP ETDSGFVGSE TSRVSPLTQT PEHRLSHIST AGTLAQPFAA
SVPRDGASYP KARGSLIPRR ATEPSTPRSQ AQRYLSSPSG PLRQRAPNFS LERTLAAEMA
VPGSEFEGHK RISEQPLPNK TISPPPAPAP AAAPLPCGPT ETIPSFLLTR AGRDQAICEL
QEEVSRLRLR LEDSLHQPLQ GSPTRPASAF DRPARTRGRP ADSPATWGSH YGSKSTERLP
GEPRGEEQIV PPGRQRARSS SVPREVLRLS LSSESELPSL PLFSEKSKTT KDSPQAARDG
KRGVGSAGWP DRVTFRGQYT GHEYHVLSPK AVPKGNGTVS CPHCRPIRTQ DAGGAVTGDP
LGPPPADTLQ CPLCGQVGSP PEADGPGSAT SGAEKATTRR KASSTPSPKQ RSKQAGSSPR
PPPGLWYLAT APPAPAPPAF AYISSVPIMP YPPAAVYYAP AGPTSAQPAA KWPPTASPPP
ARRHRHSIQL DLGDLEELNK ALSRAVQAAE SVRSTTRQMR SSLSADLRQA HSLRGSCLF*
mutated AA sequence MASSETEIRW AEPGLGKGPQ RRRWAWAEDK RDVDRSSSQS WEEERLFPNA TSPELLEDFR
LAQQHLPPLE WDPHPQPDGH QDSESGETSG EEAEAEDVDS PASSHEPLAW LPQQGRQLDM
TEEEPDGTLG SLEVEEAGES SSRLGYEAGL SLEGHGNTSP MALGHGQARG WVASGEQASG
DKLSEHSEVN PSVELSPARS WSSGTVSLDH PSDSLDSTWE GETDGPQPTA LAETLPEGPS
HHLLSPDGRT GGSVARATPM EFQDSSAPPA QSPQHATDRW RRETTRFFCP QPKEHIWKQT
KTSPKPLPSR FIGSISPLNP QPRPTRQGRP LPRQGATLAG RSSSNAPKYG RGQLNYPLPD
FSKVGPRVRF PKDESYRPPK SRSHNRKPQA PARPLIFKSP AEIVQEVLLS SGEAALAKDT
PPAHPITRVP QEFQTPEQAT ELVHQLQEDY HRLLTKYAEA ENTIDQLRLG AKVNLFSDPP
QPNHSIHTGM VPQGTKVLSF TIPQPRSAEW WPGPAEDPQA SAASGWPSAR GDLSPSSLTS
MPTLGWLPEN RDISEDQSSA EQTQALASQA SQFLAKVESF ERLIQAGRLM PQDQVKGFQR
LKAAHAALEE EYLKACREQH PAQPLAGSKG TPGRFDPRRE LEAEIYRLGS CLEELKEHID
QTQQEPEPPG SDSALDSTPA LPCLHQPTHL PAPSGQAPMP AIKTSCPEPA TTTAAASTGP
CPLHVNVEVS SGNSEVEDRP QDPLARLRHK ELQMEQVYHG LMERYLSVKS LPEAMRMEEE
EEGEEEEEEE GGGDSLEVDG VAATPGKAEA TRVLPRQCPV QAEKSHGAPL EEATEKMVSM
KPPGFQASLA RDGHMSGLGK AEAAPPGPGV PPHPPGTKSA ASHQSSMTSL EGSGISERLP
QKPLHRGGGP HLEETWMASP ETDSGFVGSE TSRVSPLTQT PEHRLSHIST AGTLAQPFAA
SVPRDGASYP KARGSLIPRR ATEPSTPRSQ AQRYLSSPSG PLRQRAPNFS LERTLAAEMA
VPGSEFEGHK RISEQPLPNK TISPPPAPAP AAAPLPCGPT ETIPSFLLTR AGRDQAICEL
QEEVSRLRLR LEDSLHQPLQ GSPTRPASAF DRPARTRGRP ADSPATWGSH YGSKSTERLP
GEPRGEEQIV PPGRQRARSS SVPREVLRLS LSSESELPSL PLFSEKSKTT KDSPQAARDG
KRGVGSAGWP DRVTFRGQYT GHEYHVLSPK AVPKGNGTVS CPHCRPIRTQ DAGGAVTGDP
LGPPPADTLQ CPLCGQVGSP PEADGPGSAT SGAEKATTRR KAPSTPSPKQ RSKQAGSSPR
PPPGLWYLAT APPAPAPPAF AYISSVPIMP YPPAAVYYAP AGPTSAQPAA KWPPTASPPP
ARRHRHSIQL DLGDLEELNK ALSRAVQAAE SVRSTTRQMR SSLSADLRQA HSLRGSCLF*
speed 1.01 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: 0.999999999999986 (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) chr9:117103973A>GN/A show variant in all transcripts   IGV
HGNC symbol AKNA
Ensembl transcript ID ENST00000374079
Genbank transcript ID N/A
UniProt peptide Q7Z591
alteration type single base exchange
alteration region CDS
DNA changes c.742T>C
cDNA.742T>C
g.52713T>C
AA changes S248P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 248
frameshift no
known variant Reference ID: rs2250242
databasehomozygous (G/G)heterozygousallele carriers
1000G101810202038
ExAC17473-217915294
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1080.007
00
(flanking)-0.1210
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased52704wt: 0.9988 / mu: 0.9988 (marginal change - not scored)wt: CGAGGAGAAAAGCAT
mu: CGAGGAGAAAAGCAC		 AGGA|gaaa
Donor increased52714wt: 0.55 / mu: 0.84wt: AGCATCTTCAACTCC
mu: AGCACCTTCAACTCC		 CATC|ttca
distance from splice site 33
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      248GAEKATTRRKASSTPSPKQRSKQA
mutated  not conserved    248ATTRRKAPSTPSPKQRSKQ
Ptroglodytes  not conserved  ENSPTRG00000021288  1250GAEKATTRRKAPSTPSPKQRSKQ
Mmulatta  not conserved  ENSMMUG00000008018  1303GAEKATKRRKAPSTPSPKQRSK
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000039158  1275--EKNTP--KKPSTPILKRKNR
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
534534MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
771804REGIONPEST.might get lost (downstream of altered splice site)
799799CONFLICTD -> V (in Ref. 3; BAD18725/BAC85132).might get lost (downstream of altered splice site)
816816CONFLICTR -> S (in Ref. 3; BAD18725).might get lost (downstream of altered splice site)
839839MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
848848MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
911932REGIONPEST.might get lost (downstream of altered splice site)
10371037CONFLICTL -> F (in Ref. 6; AAK83024).might get lost (downstream of altered splice site)
11031103CONFLICTP -> Q (in Ref. 3; BAD18725).might get lost (downstream of altered splice site)
11141114CONFLICTA -> P (in Ref. 3; BAD18725).might get lost (downstream of altered splice site)
11151123DNA_BINDA.T hook.might get lost (downstream of altered splice site)
14291429CONFLICTQ -> P (in Ref. 3; BAD18725).might get lost (downstream of altered splice site)
14351436CONFLICTGS -> AP (in Ref. 3; BAD18725).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1155 / 1155
position (AA) of stopcodon in wt / mu AA sequence 385 / 385
position of stopcodon in wt / mu cDNA 1155 / 1155
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 9
strand -1
last intron/exon boundary 903
theoretical NMD boundary in CDS 852
length of CDS 1155
coding sequence (CDS) position 742
cDNA position
(for ins/del: last normal base / first normal base)		 742
gDNA position
(for ins/del: last normal base / first normal base)		 52713
chromosomal position
(for ins/del: last normal base / first normal base)		 117103973
original gDNA sequence snippet CCACCACGAGGAGAAAAGCATCTTCAACTCCCAGCCCCAAG
altered gDNA sequence snippet CCACCACGAGGAGAAAAGCACCTTCAACTCCCAGCCCCAAG
original cDNA sequence snippet CCACCACGAGGAGAAAAGCATCTTCAACTCCCAGCCCCAAG
altered cDNA sequence snippet CCACCACGAGGAGAAAAGCACCTTCAACTCCCAGCCCCAAG
wildtype AA sequence MSAGGGTRGY SPRSPGATSQ AICELQEEVS RLRLRLEDSL HQPLQGSPTR PASAFDRPAR
TRGRPADSPA TWGSHYGSKS TERLPGEPRG EEQIVPPGRQ RARSSSVPRE VLRLSLSSES
ELPSLPLFSE KSKTTKDSPQ AARDGKRGVG SAGWPDRVTF RGQYTGHEYH VLSPKAVPKG
NGTVSCPHCR PIRTQDAGGA VTGDPLGPPP ADTLQCPLCG QVGSPPEADG PGSATSGAEK
ATTRRKASST PSPKQRSKQA GSSPRPPPGL WYLATAPPAP APPAFAYISS VPIMPYPPAA
VYYAPAGPTS AQPAAKWPPT ASPPPARRHR HSIQLDLGDL EELNKALSRA VQAAESVRST
TRQMRSSLSA DLRQAHSLRG SCLF*
mutated AA sequence MSAGGGTRGY SPRSPGATSQ AICELQEEVS RLRLRLEDSL HQPLQGSPTR PASAFDRPAR
TRGRPADSPA TWGSHYGSKS TERLPGEPRG EEQIVPPGRQ RARSSSVPRE VLRLSLSSES
ELPSLPLFSE KSKTTKDSPQ AARDGKRGVG SAGWPDRVTF RGQYTGHEYH VLSPKAVPKG
NGTVSCPHCR PIRTQDAGGA VTGDPLGPPP ADTLQCPLCG QVGSPPEADG PGSATSGAEK
ATTRRKAPST PSPKQRSKQA GSSPRPPPGL WYLATAPPAP APPAFAYISS VPIMPYPPAA
VYYAPAGPTS AQPAAKWPPT ASPPPARRHR HSIQLDLGDL EELNKALSRA VQAAESVRST
TRQMRSSLSA DLRQAHSLRG SCLF*
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