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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000382043
Querying Taster for transcript #2: ENST00000382041
Querying Taster for transcript #3: ENST00000245441
Querying Taster for transcript #4: ENST00000453196
Querying Taster for transcript #5: ENST00000389868
Querying Taster for transcript #6: ENST00000324330
MT speed 0 s - this script 5.56138 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
NINpolymorphism_automatic3.64805220098852e-06simple_aaeaffectedQ1221Esingle base exchangers2295847show file
NINpolymorphism_automatic4.93479595498059e-06simple_aaeaffectedQ1221Esingle base exchangers2295847show file
NINpolymorphism_automatic0.000357395645748992simple_aaeaffectedQ1934Esingle base exchangers2295847show file
NINpolymorphism_automatic0.000357395645748992simple_aaeaffectedQ1934Esingle base exchangers2295847show file
NINpolymorphism_automatic0.000357395645748992simple_aaeaffectedQ1934Esingle base exchangers2295847show file
NINpolymorphism_automatic0.000357395645748992simple_aaeaffectedQ1934Esingle base exchangers2295847show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999996351947799 (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) chr14:51202311G>CN/A show variant in all transcripts   IGV
HGNC symbol NIN
Ensembl transcript ID ENST00000382043
Genbank transcript ID NM_016350
UniProt peptide Q8N4C6
alteration type single base exchange
alteration region CDS
DNA changes c.3661C>G
cDNA.3698C>G
g.95529C>G
AA changes Q1221E Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1221
frameshift no
known variant Reference ID: rs2295847
databasehomozygous (C/C)heterozygousallele carriers
1000G197574771
ExAC22251355415779
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2390.999
1.8021
(flanking)1.3381
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 increased95526wt: 0.7615 / mu: 0.7686 (marginal change - not scored)wt: CCCTTGAACAAGAAT
mu: CCCTTGAAGAAGAAT		 CTTG|aaca
Donor increased95529wt: 0.27 / mu: 0.35wt: TTGAACAAGAATTAG
mu: TTGAAGAAGAATTAG		 GAAC|aaga
Donor gained955230.95mu: ATTCCCTTGAAGAAG TCCC|ttga
Donor gained955280.61mu: CTTGAAGAAGAATTA TGAA|gaag
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1221NRKVSQMNSLEQELETIHLENEGL
mutated  all conserved    1221NRKVSQMNSLEEELETIHLENEG
Ptroglodytes  not conserved  ENSPTRG00000006335  1191EGFSELENSEET-RTESWE
Mmulatta  all identical  ENSMMUG00000014658  1226CADCDRASEKKQDL----LFDVS
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021068  1185---LDCFSELENSEDT-RTESWD
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000008553  1239----CAGGQGHVRLESLQ
Drerio  all conserved  ENSDARG00000060298  1165QKSLSALESRREVLSFQSME
Dmelanogaster  no alignment  FBgn0000228  n/a
Celegans  no alignment  T04F8.6  n/a
Xtropicalis  not conserved  ENSXETG00000016467  1199KKVISSEEFTVPDLEQTA
protein features
start (aa)end (aa)featuredetails 
11811341COILEDPotential.lost
12371237CONFLICTM -> I (in Ref. 1; AAF23015).might get lost (downstream of altered splice site)
14411816COILEDPotential.might get lost (downstream of altered splice site)
15501550MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18541885COILEDPotential.might get lost (downstream of altered splice site)
19222067COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4134 / 4134
position (AA) of stopcodon in wt / mu AA sequence 1378 / 1378
position of stopcodon in wt / mu cDNA 4171 / 4171
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 38 / 38
chromosome 14
strand -1
last intron/exon boundary 3977
theoretical NMD boundary in CDS 3889
length of CDS 4134
coding sequence (CDS) position 3661
cDNA position
(for ins/del: last normal base / first normal base)		 3698
gDNA position
(for ins/del: last normal base / first normal base)		 95529
chromosomal position
(for ins/del: last normal base / first normal base)		 51202311
original gDNA sequence snippet GTCAGATGAATTCCCTTGAACAAGAATTAGAAACAATTCAT
altered gDNA sequence snippet GTCAGATGAATTCCCTTGAAGAAGAATTAGAAACAATTCAT
original cDNA sequence snippet GTCAGATGAATTCCCTTGAACAAGAATTAGAAACAATTCAT
altered cDNA sequence snippet GTCAGATGAATTCCCTTGAAGAAGAATTAGAAACAATTCAT
wildtype AA sequence MDEVEQDQHE ARLKELFDSF DTTGTGSLGQ EELTDLCHML SLEEVAPVLQ QTLLQDNLLG
RVHFDQFKEA LILILSRTLS NEEHFQEPDC SLEAQPKYVR GGKRYGRRSL PEFQESVEEF
PEVTVIEPLD EEARPSHIPA GDCSEHWKTQ RSEEYEAEGQ LRFWNPDDLN ASQSGSSPPQ
DWIEEKLQEV CEDLGITRDG HLNRKKLVSI CEQYGLQNVD GEMLEEVFHN LDPDGTMSVE
DFFYGLFKNG KSLTPSASTP YRQLKRHLSM QSFDESGRRT TTSSAMTSTI GFRVFSCLDD
GMGHASVERI LDTWQEEGIE NSQEILKALD FSLDGNINLT ELTLALENEL LVTKNSIHQA
ALASFKAEIR HLLERVDQVV REKEKLRSDL DKAEKLKSLM ASEVDDHHAA IERRNEYNLR
KLDEEYKERI AALKNELRKE REQILQQAGK QRLELEQEIE KAKTEENYIR DRLALSLKEN
SRLENELLEN AEKLAEYENL TNKLQRNLEN VLAEKFGDLD PSSAEFFLQE ERLTQMRNEY
ERQCRVLQDQ VDELQSELEE YRAQGRVLRL PLKNSPSEEV EANSGGIEPE HGLGSEECNP
LNMSIEAELV IEQMKEQHHR DICCLRLELE DKVRHYEKQL DETVVSCKKA QENMKQRHEN
ETHTLEKQIS DLKNEIAELQ GQAAVLKEAH HEATCRHEEE KKQLQVKLEE EKTHLQEKLR
LQHEMELKAR LTQAQASFER EREGLQSSAW TEEKVRGLTQ ELEQFHQEQL TSLVEKHTLE
KEELRKELLE KHQRELQEGR YESEKLQQEN SILRNEITTL NEEDSISNLK LGTLNGSQEE
MWQKTETVKQ ENAAVQKMVE NLKKQISELK IKNQQLDLEN TELSQKNSQN QEKLQELNQR
LTEMLCQKEK EPGNSALEER EQEKFNLKEE LERCKVQSST LVSSLEAELS EVKIQTHIVQ
QENHLLKDEL EKMKQLHRCP DLSDFQQKIS SVLSYNEKLL KEKEALSEEL NSCVDKLAKS
SLLEHRIATM KQEQKSWEHQ SASLKSQLVA SQEKVQNLED TVQNVNLQMS RMKSDLRVTQ
QEKEALKQEV MSLHKQLQNA GGKSWAPEIA THPSGLHNQQ KRLSWDKLDH LMNEEQQLLW
QENERLQTMV QNTKAELTHS REKVRQLESN LLPKHQKHLN PSGTMNPTEQ EKLSLKRECD
QFQKEQSPAN RKVSQMNSLE QELETIHLEN EGLKKKQVKL DEQLMEMQHL RSTATPSPSP
HAWDLQLLQQ QACPMVPREQ FLQLQRQLLQ AERINQHLQE ELENRTSETN TPQGNQEQLV
TVMEERMIEV EQKLKLVKRL LQEKVNQLKE QVSLPGHLCS PTSHSSFNSS FTSLYCH*
mutated AA sequence MDEVEQDQHE ARLKELFDSF DTTGTGSLGQ EELTDLCHML SLEEVAPVLQ QTLLQDNLLG
RVHFDQFKEA LILILSRTLS NEEHFQEPDC SLEAQPKYVR GGKRYGRRSL PEFQESVEEF
PEVTVIEPLD EEARPSHIPA GDCSEHWKTQ RSEEYEAEGQ LRFWNPDDLN ASQSGSSPPQ
DWIEEKLQEV CEDLGITRDG HLNRKKLVSI CEQYGLQNVD GEMLEEVFHN LDPDGTMSVE
DFFYGLFKNG KSLTPSASTP YRQLKRHLSM QSFDESGRRT TTSSAMTSTI GFRVFSCLDD
GMGHASVERI LDTWQEEGIE NSQEILKALD FSLDGNINLT ELTLALENEL LVTKNSIHQA
ALASFKAEIR HLLERVDQVV REKEKLRSDL DKAEKLKSLM ASEVDDHHAA IERRNEYNLR
KLDEEYKERI AALKNELRKE REQILQQAGK QRLELEQEIE KAKTEENYIR DRLALSLKEN
SRLENELLEN AEKLAEYENL TNKLQRNLEN VLAEKFGDLD PSSAEFFLQE ERLTQMRNEY
ERQCRVLQDQ VDELQSELEE YRAQGRVLRL PLKNSPSEEV EANSGGIEPE HGLGSEECNP
LNMSIEAELV IEQMKEQHHR DICCLRLELE DKVRHYEKQL DETVVSCKKA QENMKQRHEN
ETHTLEKQIS DLKNEIAELQ GQAAVLKEAH HEATCRHEEE KKQLQVKLEE EKTHLQEKLR
LQHEMELKAR LTQAQASFER EREGLQSSAW TEEKVRGLTQ ELEQFHQEQL TSLVEKHTLE
KEELRKELLE KHQRELQEGR YESEKLQQEN SILRNEITTL NEEDSISNLK LGTLNGSQEE
MWQKTETVKQ ENAAVQKMVE NLKKQISELK IKNQQLDLEN TELSQKNSQN QEKLQELNQR
LTEMLCQKEK EPGNSALEER EQEKFNLKEE LERCKVQSST LVSSLEAELS EVKIQTHIVQ
QENHLLKDEL EKMKQLHRCP DLSDFQQKIS SVLSYNEKLL KEKEALSEEL NSCVDKLAKS
SLLEHRIATM KQEQKSWEHQ SASLKSQLVA SQEKVQNLED TVQNVNLQMS RMKSDLRVTQ
QEKEALKQEV MSLHKQLQNA GGKSWAPEIA THPSGLHNQQ KRLSWDKLDH LMNEEQQLLW
QENERLQTMV QNTKAELTHS REKVRQLESN LLPKHQKHLN PSGTMNPTEQ EKLSLKRECD
QFQKEQSPAN RKVSQMNSLE EELETIHLEN EGLKKKQVKL DEQLMEMQHL RSTATPSPSP
HAWDLQLLQQ QACPMVPREQ FLQLQRQLLQ AERINQHLQE ELENRTSETN TPQGNQEQLV
TVMEERMIEV EQKLKLVKRL LQEKVNQLKE QVSLPGHLCS PTSHSSFNSS FTSLYCH*
speed 0.51 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: 0.999995065204045 (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) chr14:51202311G>CN/A show variant in all transcripts   IGV
HGNC symbol NIN
Ensembl transcript ID ENST00000389868
Genbank transcript ID N/A
UniProt peptide Q8N4C6
alteration type single base exchange
alteration region CDS
DNA changes c.3661C>G
cDNA.3852C>G
g.95529C>G
AA changes Q1221E Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1221
frameshift no
known variant Reference ID: rs2295847
databasehomozygous (C/C)heterozygousallele carriers
1000G197574771
ExAC22251355415779
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2390.999
1.8021
(flanking)1.3381
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 increased95526wt: 0.7615 / mu: 0.7686 (marginal change - not scored)wt: CCCTTGAACAAGAAT
mu: CCCTTGAAGAAGAAT		 CTTG|aaca
Donor increased95529wt: 0.27 / mu: 0.35wt: TTGAACAAGAATTAG
mu: TTGAAGAAGAATTAG		 GAAC|aaga
Donor gained955230.95mu: ATTCCCTTGAAGAAG TCCC|ttga
Donor gained955280.61mu: CTTGAAGAAGAATTA TGAA|gaag
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1221NRKVSQMNSLEQELETIHLENEGL
mutated  all conserved    1221NRKVSQMNSLEEELETIHLENEG
Ptroglodytes  not conserved  ENSPTRG00000006335  1191EGFSELENSEET-RTESWE
Mmulatta  all identical  ENSMMUG00000014658  1226CADCDRASEKKQDL----LFDVS
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021068  1185WDLKSQISQLREQLTVLRADCD
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000008553  1239----CAGGQGHVRLESLQ
Drerio  all conserved  ENSDARG00000060298  1165QKSLSALESRREVLSFQSME
Dmelanogaster  no alignment  FBgn0000228  n/a
Celegans  no alignment  T04F8.6  n/a
Xtropicalis  not conserved  ENSXETG00000016467  1199KKVISSEEFTVPDLEQTA
protein features
start (aa)end (aa)featuredetails 
11811341COILEDPotential.lost
12371237CONFLICTM -> I (in Ref. 1; AAF23015).might get lost (downstream of altered splice site)
14411816COILEDPotential.might get lost (downstream of altered splice site)
15501550MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18541885COILEDPotential.might get lost (downstream of altered splice site)
19222067COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3831 / 3831
position (AA) of stopcodon in wt / mu AA sequence 1277 / 1277
position of stopcodon in wt / mu cDNA 4022 / 4022
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 192 / 192
chromosome 14
strand -1
last intron/exon boundary 4306
theoretical NMD boundary in CDS 4064
length of CDS 3831
coding sequence (CDS) position 3661
cDNA position
(for ins/del: last normal base / first normal base)		 3852
gDNA position
(for ins/del: last normal base / first normal base)		 95529
chromosomal position
(for ins/del: last normal base / first normal base)		 51202311
original gDNA sequence snippet GTCAGATGAATTCCCTTGAACAAGAATTAGAAACAATTCAT
altered gDNA sequence snippet GTCAGATGAATTCCCTTGAAGAAGAATTAGAAACAATTCAT
original cDNA sequence snippet GTCAGATGAATTCCCTTGAACAAGAATTAGAAACAATTCAT
altered cDNA sequence snippet GTCAGATGAATTCCCTTGAAGAAGAATTAGAAACAATTCAT
wildtype AA sequence MDEVEQDQHE ARLKELFDSF DTTGTGSLGQ EELTDLCHML SLEEVAPVLQ QTLLQDNLLG
RVHFDQFKEA LILILSRTLS NEEHFQEPDC SLEAQPKYVR GGKRYGRRSL PEFQESVEEF
PEVTVIEPLD EEARPSHIPA GDCSEHWKTQ RSEEYEAEGQ LRFWNPDDLN ASQSGSSPPQ
DWIEEKLQEV CEDLGITRDG HLNRKKLVSI CEQYGLQNVD GEMLEEVFHN LDPDGTMSVE
DFFYGLFKNG KSLTPSASTP YRQLKRHLSM QSFDESGRRT TTSSAMTSTI GFRVFSCLDD
GMGHASVERI LDTWQEEGIE NSQEILKALD FSLDGNINLT ELTLALENEL LVTKNSIHQA
ALASFKAEIR HLLERVDQVV REKEKLRSDL DKAEKLKSLM ASEVDDHHAA IERRNEYNLR
KLDEEYKERI AALKNELRKE REQILQQAGK QRLELEQEIE KAKTEENYIR DRLALSLKEN
SRLENELLEN AEKLAEYENL TNKLQRNLEN VLAEKFGDLD PSSAEFFLQE ERLTQMRNEY
ERQCRVLQDQ VDELQSELEE YRAQGRVLRL PLKNSPSEEV EANSGGIEPE HGLGSEECNP
LNMSIEAELV IEQMKEQHHR DICCLRLELE DKVRHYEKQL DETVVSCKKA QENMKQRHEN
ETHTLEKQIS DLKNEIAELQ GQAAVLKEAH HEATCRHEEE KKQLQVKLEE EKTHLQEKLR
LQHEMELKAR LTQAQASFER EREGLQSSAW TEEKVRGLTQ ELEQFHQEQL TSLVEKHTLE
KEELRKELLE KHQRELQEGR YESEKLQQEN SILRNEITTL NEEDSISNLK LGTLNGSQEE
MWQKTETVKQ ENAAVQKMVE NLKKQISELK IKNQQLDLEN TELSQKNSQN QEKLQELNQR
LTEMLCQKEK EPGNSALEER EQEKFNLKEE LERCKVQSST LVSSLEAELS EVKIQTHIVQ
QENHLLKDEL EKMKQLHRCP DLSDFQQKIS SVLSYNEKLL KEKEALSEEL NSCVDKLAKS
SLLEHRIATM KQEQKSWEHQ SASLKSQLVA SQEKVQNLED TVQNVNLQMS RMKSDLRVTQ
QEKEALKQEV MSLHKQLQNA GGKSWAPEIA THPSGLHNQQ KRLSWDKLDH LMNEEQQLLW
QENERLQTMV QNTKAELTHS REKVRQLESN LLPKHQKHLN PSGTMNPTEQ EKLSLKRECD
QFQKEQSPAN RKVSQMNSLE QELETIHLEN EGLKKKQVKL DEQLMENSVV GSSREGCSSL
PEIVCEDAAP EVHCDA*
mutated AA sequence MDEVEQDQHE ARLKELFDSF DTTGTGSLGQ EELTDLCHML SLEEVAPVLQ QTLLQDNLLG
RVHFDQFKEA LILILSRTLS NEEHFQEPDC SLEAQPKYVR GGKRYGRRSL PEFQESVEEF
PEVTVIEPLD EEARPSHIPA GDCSEHWKTQ RSEEYEAEGQ LRFWNPDDLN ASQSGSSPPQ
DWIEEKLQEV CEDLGITRDG HLNRKKLVSI CEQYGLQNVD GEMLEEVFHN LDPDGTMSVE
DFFYGLFKNG KSLTPSASTP YRQLKRHLSM QSFDESGRRT TTSSAMTSTI GFRVFSCLDD
GMGHASVERI LDTWQEEGIE NSQEILKALD FSLDGNINLT ELTLALENEL LVTKNSIHQA
ALASFKAEIR HLLERVDQVV REKEKLRSDL DKAEKLKSLM ASEVDDHHAA IERRNEYNLR
KLDEEYKERI AALKNELRKE REQILQQAGK QRLELEQEIE KAKTEENYIR DRLALSLKEN
SRLENELLEN AEKLAEYENL TNKLQRNLEN VLAEKFGDLD PSSAEFFLQE ERLTQMRNEY
ERQCRVLQDQ VDELQSELEE YRAQGRVLRL PLKNSPSEEV EANSGGIEPE HGLGSEECNP
LNMSIEAELV IEQMKEQHHR DICCLRLELE DKVRHYEKQL DETVVSCKKA QENMKQRHEN
ETHTLEKQIS DLKNEIAELQ GQAAVLKEAH HEATCRHEEE KKQLQVKLEE EKTHLQEKLR
LQHEMELKAR LTQAQASFER EREGLQSSAW TEEKVRGLTQ ELEQFHQEQL TSLVEKHTLE
KEELRKELLE KHQRELQEGR YESEKLQQEN SILRNEITTL NEEDSISNLK LGTLNGSQEE
MWQKTETVKQ ENAAVQKMVE NLKKQISELK IKNQQLDLEN TELSQKNSQN QEKLQELNQR
LTEMLCQKEK EPGNSALEER EQEKFNLKEE LERCKVQSST LVSSLEAELS EVKIQTHIVQ
QENHLLKDEL EKMKQLHRCP DLSDFQQKIS SVLSYNEKLL KEKEALSEEL NSCVDKLAKS
SLLEHRIATM KQEQKSWEHQ SASLKSQLVA SQEKVQNLED TVQNVNLQMS RMKSDLRVTQ
QEKEALKQEV MSLHKQLQNA GGKSWAPEIA THPSGLHNQQ KRLSWDKLDH LMNEEQQLLW
QENERLQTMV QNTKAELTHS REKVRQLESN LLPKHQKHLN PSGTMNPTEQ EKLSLKRECD
QFQKEQSPAN RKVSQMNSLE EELETIHLEN EGLKKKQVKL DEQLMENSVV GSSREGCSSL
PEIVCEDAAP EVHCDA*
speed 1.39 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: 0.999642604354251 (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) chr14:51202311G>CN/A show variant in all transcripts   IGV
HGNC symbol NIN
Ensembl transcript ID ENST00000382041
Genbank transcript ID NM_182946
UniProt peptide Q8N4C6
alteration type single base exchange
alteration region CDS
DNA changes c.5800C>G
cDNA.5991C>G
g.95529C>G
AA changes Q1934E Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1934
frameshift no
known variant Reference ID: rs2295847
databasehomozygous (C/C)heterozygousallele carriers
1000G197574771
ExAC22251355415779
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2390.999
1.8021
(flanking)1.3381
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 increased95526wt: 0.7615 / mu: 0.7686 (marginal change - not scored)wt: CCCTTGAACAAGAAT
mu: CCCTTGAAGAAGAAT		 CTTG|aaca
Donor increased95529wt: 0.27 / mu: 0.35wt: TTGAACAAGAATTAG
mu: TTGAAGAAGAATTAG		 GAAC|aaga
Donor gained955230.95mu: ATTCCCTTGAAGAAG TCCC|ttga
Donor gained955280.61mu: CTTGAAGAAGAATTA TGAA|gaag
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1934NRKVSQMNSLEQELETIHLENEGL
mutated  all conserved    1934NRKVSQMNSLEEELETIHLENEG
Ptroglodytes  all identical  ENSPTRG00000006335  1940NRKVSQMNSLEQELETIHLENEG
Mmulatta  all identical  ENSMMUG00000014658  1933NRKVSQMNSLEQELETIHLENEG
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021068  1924SRKVGQMGSLERGLETIHLENEG
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000008553  1234----CAGGQGHVRLESLQQENEA
Drerio  no alignment  ENSDARG00000060298  n/a
Dmelanogaster  not conserved  FBgn0000228  742EEKAQEISSLQSEIEDLRQRLGESVE
Celegans  no alignment  T04F8.6  n/a
Xtropicalis  all conserved  ENSXETG00000016467  1871NRKISHLSSLERDLDAIKTENDG
protein features
start (aa)end (aa)featuredetails 
19222067COILEDPotential.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 6273 / 6273
position (AA) of stopcodon in wt / mu AA sequence 2091 / 2091
position of stopcodon in wt / mu cDNA 6464 / 6464
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 192 / 192
chromosome 14
strand -1
last intron/exon boundary 6270
theoretical NMD boundary in CDS 6028
length of CDS 6273
coding sequence (CDS) position 5800
cDNA position
(for ins/del: last normal base / first normal base)		 5991
gDNA position
(for ins/del: last normal base / first normal base)		 95529
chromosomal position
(for ins/del: last normal base / first normal base)		 51202311
original gDNA sequence snippet GTCAGATGAATTCCCTTGAACAAGAATTAGAAACAATTCAT
altered gDNA sequence snippet GTCAGATGAATTCCCTTGAAGAAGAATTAGAAACAATTCAT
original cDNA sequence snippet GTCAGATGAATTCCCTTGAACAAGAATTAGAAACAATTCAT
altered cDNA sequence snippet GTCAGATGAATTCCCTTGAAGAAGAATTAGAAACAATTCAT
wildtype AA sequence MDEVEQDQHE ARLKELFDSF DTTGTGSLGQ EELTDLCHML SLEEVAPVLQ QTLLQDNLLG
RVHFDQFKEA LILILSRTLS NEEHFQEPDC SLEAQPKYVR GGKRYGRRSL PEFQESVEEF
PEVTVIEPLD EEARPSHIPA GDCSEHWKTQ RSEEYEAEGQ LRFWNPDDLN ASQSGSSPPQ
DWIEEKLQEV CEDLGITRDG HLNRKKLVSI CEQYGLQNVD GEMLEEVFHN LDPDGTMSVE
DFFYGLFKNG KSLTPSASTP YRQLKRHLSM QSFDESGRRT TTSSAMTSTI GFRVFSCLDD
GMGHASVERI LDTWQEEGIE NSQEILKALD FSLDGNINLT ELTLALENEL LVTKNSIHQA
ALASFKAEIR HLLERVDQVV REKEKLRSDL DKAEKLKSLM ASEVDDHHAA IERRNEYNLR
KLDEEYKERI AALKNELRKE REQILQQAGK QRLELEQEIE KAKTEENYIR DRLALSLKEN
SRLENELLEN AEKLAEYENL TNKLQRNLEN VLAEKFGDLD PSSAEFFLQE ERLTQMRNEY
ERQCRVLQDQ VDELQSELEE YRAQGRVLRL PLKNSPSEEV EANSGGIEPE HGLGSEECNP
LNMSIEAELV IEQMKEQHHR DICCLRLELE DKVRHYEKQL DETVVSCKKA QENMKQRHEN
ETHTLEKQIS DLKNEIAELQ GQAAVLKEAH HEATCRHEEE KKQLQVKLEE EKTHLQEKLR
LQHEMELKAR LTQAQASFER EREGLQSSAW TEEKVRGLTQ ELEQFHQEQL TSLVEKHTLE
KEELRKELLE KHQRELQEGR EKMETECNRR TSQIEAQFQS DCQKVTERCE SALQSLEGRY
RQELKDLQEQ QREEKSQWEF EKDELTQECA EAQELLKETL KREKTTSLVL TQEREMLEKT
YKEHLNSMVV ERQQLLQDLE DLRNVSETQQ SLLSDQILEL KSSHKRELRE REEVLCQAGA
SEQLASQRLE RLEMEHDQER QEMMSKLLAM ENIHKATCET ADRERAEMST EISRLQSKIK
EMQQATSPLS MLQSGCQVIG EEEVEGDGAL SLLQQGEQLL EENGDVLLSL QRAHEQAVKE
NVKMATEISR LQQRLQKLEP GLVMSSCLDE PATEFFGNTA EQTEQFLQQN RTKQVEGVTR
RHVLSDLEDD EVRDLGSTGT SSVQRQEVKI EESEASVEGF SELENSEETR TESWELKNQI
SQLQEQLMML CADCDRASEK KQDLLFDVSV LKKKLKMLER IPEASPKYKL LYEDVSREND
CLQEELRMME TRYDEALENN KELTAEVFRL QDELKKMEEV TETFLSLEKS YDEVKIENEG
LNVLVLRLQG KIEKLQESVV QRCDCCLWEA SLENLEIEPD GNILQLNQTL EECVPRVRSV
HHVIEECKQE NQYLEGNTQL LEKVKAHEIA WLHGTIQTHQ ERPRVQNQVI LEENTTLLGF
QDKHFQHQAT IAELELEKTK LQELTRKLKE RVTILVKQKD VLSHGEKEEE LKAMMHDLQI
TCSEMQQKVE LLRYESEKLQ QENSILRNEI TTLNEEDSIS NLKLGTLNGS QEEMWQKTET
VKQENAAVQK MVENLKKQIS ELKIKNQQLD LENTELSQKN SQNQEKLQEL NQRLTEMLCQ
KEKEPGNSAL EEREQEKFNL KEELERCKVQ SSTLVSSLEA ELSEVKIQTH IVQQENHLLK
DELEKMKQLH RCPDLSDFQQ KISSVLSYNE KLLKEKEALS EELNSCVDKL AKSSLLEHRI
ATMKQEQKSW EHQSASLKSQ LVASQEKVQN LEDTVQNVNL QMSRMKSDLR VTQQEKEALK
QEVMSLHKQL QNAGGKSWAP EIATHPSGLH NQQKRLSWDK LDHLMNEEQQ LLWQENERLQ
TMVQNTKAEL THSREKVRQL ESNLLPKHQK HLNPSGTMNP TEQEKLSLKR ECDQFQKEQS
PANRKVSQMN SLEQELETIH LENEGLKKKQ VKLDEQLMEM QHLRSTATPS PSPHAWDLQL
LQQQACPMVP REQFLQLQRQ LLQAERINQH LQEELENRTS ETNTPQGNQE QLVTVMEERM
IEVEQKLKLV KRLLQEKVNQ LKEQVSLPGH LCSPTSHSSF NSSFTSLYCH *
mutated AA sequence MDEVEQDQHE ARLKELFDSF DTTGTGSLGQ EELTDLCHML SLEEVAPVLQ QTLLQDNLLG
RVHFDQFKEA LILILSRTLS NEEHFQEPDC SLEAQPKYVR GGKRYGRRSL PEFQESVEEF
PEVTVIEPLD EEARPSHIPA GDCSEHWKTQ RSEEYEAEGQ LRFWNPDDLN ASQSGSSPPQ
DWIEEKLQEV CEDLGITRDG HLNRKKLVSI CEQYGLQNVD GEMLEEVFHN LDPDGTMSVE
DFFYGLFKNG KSLTPSASTP YRQLKRHLSM QSFDESGRRT TTSSAMTSTI GFRVFSCLDD
GMGHASVERI LDTWQEEGIE NSQEILKALD FSLDGNINLT ELTLALENEL LVTKNSIHQA
ALASFKAEIR HLLERVDQVV REKEKLRSDL DKAEKLKSLM ASEVDDHHAA IERRNEYNLR
KLDEEYKERI AALKNELRKE REQILQQAGK QRLELEQEIE KAKTEENYIR DRLALSLKEN
SRLENELLEN AEKLAEYENL TNKLQRNLEN VLAEKFGDLD PSSAEFFLQE ERLTQMRNEY
ERQCRVLQDQ VDELQSELEE YRAQGRVLRL PLKNSPSEEV EANSGGIEPE HGLGSEECNP
LNMSIEAELV IEQMKEQHHR DICCLRLELE DKVRHYEKQL DETVVSCKKA QENMKQRHEN
ETHTLEKQIS DLKNEIAELQ GQAAVLKEAH HEATCRHEEE KKQLQVKLEE EKTHLQEKLR
LQHEMELKAR LTQAQASFER EREGLQSSAW TEEKVRGLTQ ELEQFHQEQL TSLVEKHTLE
KEELRKELLE KHQRELQEGR EKMETECNRR TSQIEAQFQS DCQKVTERCE SALQSLEGRY
RQELKDLQEQ QREEKSQWEF EKDELTQECA EAQELLKETL KREKTTSLVL TQEREMLEKT
YKEHLNSMVV ERQQLLQDLE DLRNVSETQQ SLLSDQILEL KSSHKRELRE REEVLCQAGA
SEQLASQRLE RLEMEHDQER QEMMSKLLAM ENIHKATCET ADRERAEMST EISRLQSKIK
EMQQATSPLS MLQSGCQVIG EEEVEGDGAL SLLQQGEQLL EENGDVLLSL QRAHEQAVKE
NVKMATEISR LQQRLQKLEP GLVMSSCLDE PATEFFGNTA EQTEQFLQQN RTKQVEGVTR
RHVLSDLEDD EVRDLGSTGT SSVQRQEVKI EESEASVEGF SELENSEETR TESWELKNQI
SQLQEQLMML CADCDRASEK KQDLLFDVSV LKKKLKMLER IPEASPKYKL LYEDVSREND
CLQEELRMME TRYDEALENN KELTAEVFRL QDELKKMEEV TETFLSLEKS YDEVKIENEG
LNVLVLRLQG KIEKLQESVV QRCDCCLWEA SLENLEIEPD GNILQLNQTL EECVPRVRSV
HHVIEECKQE NQYLEGNTQL LEKVKAHEIA WLHGTIQTHQ ERPRVQNQVI LEENTTLLGF
QDKHFQHQAT IAELELEKTK LQELTRKLKE RVTILVKQKD VLSHGEKEEE LKAMMHDLQI
TCSEMQQKVE LLRYESEKLQ QENSILRNEI TTLNEEDSIS NLKLGTLNGS QEEMWQKTET
VKQENAAVQK MVENLKKQIS ELKIKNQQLD LENTELSQKN SQNQEKLQEL NQRLTEMLCQ
KEKEPGNSAL EEREQEKFNL KEELERCKVQ SSTLVSSLEA ELSEVKIQTH IVQQENHLLK
DELEKMKQLH RCPDLSDFQQ KISSVLSYNE KLLKEKEALS EELNSCVDKL AKSSLLEHRI
ATMKQEQKSW EHQSASLKSQ LVASQEKVQN LEDTVQNVNL QMSRMKSDLR VTQQEKEALK
QEVMSLHKQL QNAGGKSWAP EIATHPSGLH NQQKRLSWDK LDHLMNEEQQ LLWQENERLQ
TMVQNTKAEL THSREKVRQL ESNLLPKHQK HLNPSGTMNP TEQEKLSLKR ECDQFQKEQS
PANRKVSQMN SLEEELETIH LENEGLKKKQ VKLDEQLMEM QHLRSTATPS PSPHAWDLQL
LQQQACPMVP REQFLQLQRQ LLQAERINQH LQEELENRTS ETNTPQGNQE QLVTVMEERM
IEVEQKLKLV KRLLQEKVNQ LKEQVSLPGH LCSPTSHSSF NSSFTSLYCH *
speed 0.96 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: 0.999642604354251 (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) chr14:51202311G>CN/A show variant in all transcripts   IGV
HGNC symbol NIN
Ensembl transcript ID ENST00000453196
Genbank transcript ID NM_182944
UniProt peptide Q8N4C6
alteration type single base exchange
alteration region CDS
DNA changes c.5800C>G
cDNA.5991C>G
g.95529C>G
AA changes Q1934E Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1934
frameshift no
known variant Reference ID: rs2295847
databasehomozygous (C/C)heterozygousallele carriers
1000G197574771
ExAC22251355415779
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2390.999
1.8021
(flanking)1.3381
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 increased95526wt: 0.7615 / mu: 0.7686 (marginal change - not scored)wt: CCCTTGAACAAGAAT
mu: CCCTTGAAGAAGAAT		 CTTG|aaca
Donor increased95529wt: 0.27 / mu: 0.35wt: TTGAACAAGAATTAG
mu: TTGAAGAAGAATTAG		 GAAC|aaga
Donor gained955230.95mu: ATTCCCTTGAAGAAG TCCC|ttga
Donor gained955280.61mu: CTTGAAGAAGAATTA TGAA|gaag
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1934NRKVSQMNSLEQELETIHLENEGL
mutated  all conserved    1934NRKVSQMNSLEEELETIHLENEG
Ptroglodytes  all identical  ENSPTRG00000006335  1940NRKVSQMNSLEQELETIHLENEG
Mmulatta  all identical  ENSMMUG00000014658  1933NRKVSQMNSLEQELETIHLENEG
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021068  1924SRKVGQMGSLERGLETIHLENEG
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000008553  1234----CAGGQGHVRLESLQQENEA
Drerio  no alignment  ENSDARG00000060298  n/a
Dmelanogaster  not conserved  FBgn0000228  742EEKAQEISSLQSEIEDLRQRLGESVE
Celegans  no alignment  T04F8.6  n/a
Xtropicalis  all conserved  ENSXETG00000016467  1871NRKISHLSSLERDLDAIKTENDG
protein features
start (aa)end (aa)featuredetails 
19222067COILEDPotential.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 6141 / 6141
position (AA) of stopcodon in wt / mu AA sequence 2047 / 2047
position of stopcodon in wt / mu cDNA 6332 / 6332
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 192 / 192
chromosome 14
strand -1
last intron/exon boundary 6270
theoretical NMD boundary in CDS 6028
length of CDS 6141
coding sequence (CDS) position 5800
cDNA position
(for ins/del: last normal base / first normal base)		 5991
gDNA position
(for ins/del: last normal base / first normal base)		 95529
chromosomal position
(for ins/del: last normal base / first normal base)		 51202311
original gDNA sequence snippet GTCAGATGAATTCCCTTGAACAAGAATTAGAAACAATTCAT
altered gDNA sequence snippet GTCAGATGAATTCCCTTGAAGAAGAATTAGAAACAATTCAT
original cDNA sequence snippet GTCAGATGAATTCCCTTGAACAAGAATTAGAAACAATTCAT
altered cDNA sequence snippet GTCAGATGAATTCCCTTGAAGAAGAATTAGAAACAATTCAT
wildtype AA sequence MDEVEQDQHE ARLKELFDSF DTTGTGSLGQ EELTDLCHML SLEEVAPVLQ QTLLQDNLLG
RVHFDQFKEA LILILSRTLS NEEHFQEPDC SLEAQPKYVR GGKRYGRRSL PEFQESVEEF
PEVTVIEPLD EEARPSHIPA GDCSEHWKTQ RSEEYEAEGQ LRFWNPDDLN ASQSGSSPPQ
DWIEEKLQEV CEDLGITRDG HLNRKKLVSI CEQYGLQNVD GEMLEEVFHN LDPDGTMSVE
DFFYGLFKNG KSLTPSASTP YRQLKRHLSM QSFDESGRRT TTSSAMTSTI GFRVFSCLDD
GMGHASVERI LDTWQEEGIE NSQEILKALD FSLDGNINLT ELTLALENEL LVTKNSIHQA
ALASFKAEIR HLLERVDQVV REKEKLRSDL DKAEKLKSLM ASEVDDHHAA IERRNEYNLR
KLDEEYKERI AALKNELRKE REQILQQAGK QRLELEQEIE KAKTEENYIR DRLALSLKEN
SRLENELLEN AEKLAEYENL TNKLQRNLEN VLAEKFGDLD PSSAEFFLQE ERLTQMRNEY
ERQCRVLQDQ VDELQSELEE YRAQGRVLRL PLKNSPSEEV EANSGGIEPE HGLGSEECNP
LNMSIEAELV IEQMKEQHHR DICCLRLELE DKVRHYEKQL DETVVSCKKA QENMKQRHEN
ETHTLEKQIS DLKNEIAELQ GQAAVLKEAH HEATCRHEEE KKQLQVKLEE EKTHLQEKLR
LQHEMELKAR LTQAQASFER EREGLQSSAW TEEKVRGLTQ ELEQFHQEQL TSLVEKHTLE
KEELRKELLE KHQRELQEGR EKMETECNRR TSQIEAQFQS DCQKVTERCE SALQSLEGRY
RQELKDLQEQ QREEKSQWEF EKDELTQECA EAQELLKETL KREKTTSLVL TQEREMLEKT
YKEHLNSMVV ERQQLLQDLE DLRNVSETQQ SLLSDQILEL KSSHKRELRE REEVLCQAGA
SEQLASQRLE RLEMEHDQER QEMMSKLLAM ENIHKATCET ADRERAEMST EISRLQSKIK
EMQQATSPLS MLQSGCQVIG EEEVEGDGAL SLLQQGEQLL EENGDVLLSL QRAHEQAVKE
NVKMATEISR LQQRLQKLEP GLVMSSCLDE PATEFFGNTA EQTEQFLQQN RTKQVEGVTR
RHVLSDLEDD EVRDLGSTGT SSVQRQEVKI EESEASVEGF SELENSEETR TESWELKNQI
SQLQEQLMML CADCDRASEK KQDLLFDVSV LKKKLKMLER IPEASPKYKL LYEDVSREND
CLQEELRMME TRYDEALENN KELTAEVFRL QDELKKMEEV TETFLSLEKS YDEVKIENEG
LNVLVLRLQG KIEKLQESVV QRCDCCLWEA SLENLEIEPD GNILQLNQTL EECVPRVRSV
HHVIEECKQE NQYLEGNTQL LEKVKAHEIA WLHGTIQTHQ ERPRVQNQVI LEENTTLLGF
QDKHFQHQAT IAELELEKTK LQELTRKLKE RVTILVKQKD VLSHGEKEEE LKAMMHDLQI
TCSEMQQKVE LLRYESEKLQ QENSILRNEI TTLNEEDSIS NLKLGTLNGS QEEMWQKTET
VKQENAAVQK MVENLKKQIS ELKIKNQQLD LENTELSQKN SQNQEKLQEL NQRLTEMLCQ
KEKEPGNSAL EEREQEKFNL KEELERCKVQ SSTLVSSLEA ELSEVKIQTH IVQQENHLLK
DELEKMKQLH RCPDLSDFQQ KISSVLSYNE KLLKEKEALS EELNSCVDKL AKSSLLEHRI
ATMKQEQKSW EHQSASLKSQ LVASQEKVQN LEDTVQNVNL QMSRMKSDLR VTQQEKEALK
QEVMSLHKQL QNAGGKSWAP EIATHPSGLH NQQKRLSWDK LDHLMNEEQQ LLWQENERLQ
TMVQNTKAEL THSREKVRQL ESNLLPKHQK HLNPSGTMNP TEQEKLSLKR ECDQFQKEQS
PANRKVSQMN SLEQELETIH LENEGLKKKQ VKLDEQLMEM QHLRSTATPS PSPHAWDLQL
LQQQACPMVP REQFLQLQRQ LLQAERINQH LQEELENRTS ETNTPQALLP EQRAVHADSY
RRIGHL*
mutated AA sequence MDEVEQDQHE ARLKELFDSF DTTGTGSLGQ EELTDLCHML SLEEVAPVLQ QTLLQDNLLG
RVHFDQFKEA LILILSRTLS NEEHFQEPDC SLEAQPKYVR GGKRYGRRSL PEFQESVEEF
PEVTVIEPLD EEARPSHIPA GDCSEHWKTQ RSEEYEAEGQ LRFWNPDDLN ASQSGSSPPQ
DWIEEKLQEV CEDLGITRDG HLNRKKLVSI CEQYGLQNVD GEMLEEVFHN LDPDGTMSVE
DFFYGLFKNG KSLTPSASTP YRQLKRHLSM QSFDESGRRT TTSSAMTSTI GFRVFSCLDD
GMGHASVERI LDTWQEEGIE NSQEILKALD FSLDGNINLT ELTLALENEL LVTKNSIHQA
ALASFKAEIR HLLERVDQVV REKEKLRSDL DKAEKLKSLM ASEVDDHHAA IERRNEYNLR
KLDEEYKERI AALKNELRKE REQILQQAGK QRLELEQEIE KAKTEENYIR DRLALSLKEN
SRLENELLEN AEKLAEYENL TNKLQRNLEN VLAEKFGDLD PSSAEFFLQE ERLTQMRNEY
ERQCRVLQDQ VDELQSELEE YRAQGRVLRL PLKNSPSEEV EANSGGIEPE HGLGSEECNP
LNMSIEAELV IEQMKEQHHR DICCLRLELE DKVRHYEKQL DETVVSCKKA QENMKQRHEN
ETHTLEKQIS DLKNEIAELQ GQAAVLKEAH HEATCRHEEE KKQLQVKLEE EKTHLQEKLR
LQHEMELKAR LTQAQASFER EREGLQSSAW TEEKVRGLTQ ELEQFHQEQL TSLVEKHTLE
KEELRKELLE KHQRELQEGR EKMETECNRR TSQIEAQFQS DCQKVTERCE SALQSLEGRY
RQELKDLQEQ QREEKSQWEF EKDELTQECA EAQELLKETL KREKTTSLVL TQEREMLEKT
YKEHLNSMVV ERQQLLQDLE DLRNVSETQQ SLLSDQILEL KSSHKRELRE REEVLCQAGA
SEQLASQRLE RLEMEHDQER QEMMSKLLAM ENIHKATCET ADRERAEMST EISRLQSKIK
EMQQATSPLS MLQSGCQVIG EEEVEGDGAL SLLQQGEQLL EENGDVLLSL QRAHEQAVKE
NVKMATEISR LQQRLQKLEP GLVMSSCLDE PATEFFGNTA EQTEQFLQQN RTKQVEGVTR
RHVLSDLEDD EVRDLGSTGT SSVQRQEVKI EESEASVEGF SELENSEETR TESWELKNQI
SQLQEQLMML CADCDRASEK KQDLLFDVSV LKKKLKMLER IPEASPKYKL LYEDVSREND
CLQEELRMME TRYDEALENN KELTAEVFRL QDELKKMEEV TETFLSLEKS YDEVKIENEG
LNVLVLRLQG KIEKLQESVV QRCDCCLWEA SLENLEIEPD GNILQLNQTL EECVPRVRSV
HHVIEECKQE NQYLEGNTQL LEKVKAHEIA WLHGTIQTHQ ERPRVQNQVI LEENTTLLGF
QDKHFQHQAT IAELELEKTK LQELTRKLKE RVTILVKQKD VLSHGEKEEE LKAMMHDLQI
TCSEMQQKVE LLRYESEKLQ QENSILRNEI TTLNEEDSIS NLKLGTLNGS QEEMWQKTET
VKQENAAVQK MVENLKKQIS ELKIKNQQLD LENTELSQKN SQNQEKLQEL NQRLTEMLCQ
KEKEPGNSAL EEREQEKFNL KEELERCKVQ SSTLVSSLEA ELSEVKIQTH IVQQENHLLK
DELEKMKQLH RCPDLSDFQQ KISSVLSYNE KLLKEKEALS EELNSCVDKL AKSSLLEHRI
ATMKQEQKSW EHQSASLKSQ LVASQEKVQN LEDTVQNVNL QMSRMKSDLR VTQQEKEALK
QEVMSLHKQL QNAGGKSWAP EIATHPSGLH NQQKRLSWDK LDHLMNEEQQ LLWQENERLQ
TMVQNTKAEL THSREKVRQL ESNLLPKHQK HLNPSGTMNP TEQEKLSLKR ECDQFQKEQS
PANRKVSQMN SLEEELETIH LENEGLKKKQ VKLDEQLMEM QHLRSTATPS PSPHAWDLQL
LQQQACPMVP REQFLQLQRQ LLQAERINQH LQEELENRTS ETNTPQALLP EQRAVHADSY
RRIGHL*
speed 0.52 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: 0.999642604354251 (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) chr14:51202311G>CN/A show variant in all transcripts   IGV
HGNC symbol NIN
Ensembl transcript ID ENST00000245441
Genbank transcript ID NM_020921
UniProt peptide Q8N4C6
alteration type single base exchange
alteration region CDS
DNA changes c.5800C>G
cDNA.5991C>G
g.95529C>G
AA changes Q1934E Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1934
frameshift no
known variant Reference ID: rs2295847
databasehomozygous (C/C)heterozygousallele carriers
1000G197574771
ExAC22251355415779
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2390.999
1.8021
(flanking)1.3381
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 increased95526wt: 0.7615 / mu: 0.7686 (marginal change - not scored)wt: CCCTTGAACAAGAAT
mu: CCCTTGAAGAAGAAT		 CTTG|aaca
Donor increased95529wt: 0.27 / mu: 0.35wt: TTGAACAAGAATTAG
mu: TTGAAGAAGAATTAG		 GAAC|aaga
Donor gained955230.95mu: ATTCCCTTGAAGAAG TCCC|ttga
Donor gained955280.61mu: CTTGAAGAAGAATTA TGAA|gaag
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1934NRKVSQMNSLEQELETIHLENEGL
mutated  all conserved    1934NRKVSQMNSLEEELETIHLENEG
Ptroglodytes  all identical  ENSPTRG00000006335  1940NRKVSQMNSLEQELETIHLENEG
Mmulatta  all identical  ENSMMUG00000014658  1933NRKVSQMNSLEQELETIHLENEG
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021068  1924SRKVGQMGSLERGLETIHLENEG
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000008553  1234----CAGGQGHVRLESLQQENEA
Drerio  no alignment  ENSDARG00000060298  n/a
Dmelanogaster  not conserved  FBgn0000228  866NSGNSNAYGANPGPAPISKPKRS
Celegans  no alignment  T04F8.6  n/a
Xtropicalis  all conserved  ENSXETG00000016467  1871NRKISHLSSLERDLDAIKTENDG
protein features
start (aa)end (aa)featuredetails 
19222067COILEDPotential.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 6402 / 6402
position (AA) of stopcodon in wt / mu AA sequence 2134 / 2134
position of stopcodon in wt / mu cDNA 6593 / 6593
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 192 / 192
chromosome 14
strand -1
last intron/exon boundary 6384
theoretical NMD boundary in CDS 6142
length of CDS 6402
coding sequence (CDS) position 5800
cDNA position
(for ins/del: last normal base / first normal base)		 5991
gDNA position
(for ins/del: last normal base / first normal base)		 95529
chromosomal position
(for ins/del: last normal base / first normal base)		 51202311
original gDNA sequence snippet GTCAGATGAATTCCCTTGAACAAGAATTAGAAACAATTCAT
altered gDNA sequence snippet GTCAGATGAATTCCCTTGAAGAAGAATTAGAAACAATTCAT
original cDNA sequence snippet GTCAGATGAATTCCCTTGAACAAGAATTAGAAACAATTCAT
altered cDNA sequence snippet GTCAGATGAATTCCCTTGAAGAAGAATTAGAAACAATTCAT
wildtype AA sequence MDEVEQDQHE ARLKELFDSF DTTGTGSLGQ EELTDLCHML SLEEVAPVLQ QTLLQDNLLG
RVHFDQFKEA LILILSRTLS NEEHFQEPDC SLEAQPKYVR GGKRYGRRSL PEFQESVEEF
PEVTVIEPLD EEARPSHIPA GDCSEHWKTQ RSEEYEAEGQ LRFWNPDDLN ASQSGSSPPQ
DWIEEKLQEV CEDLGITRDG HLNRKKLVSI CEQYGLQNVD GEMLEEVFHN LDPDGTMSVE
DFFYGLFKNG KSLTPSASTP YRQLKRHLSM QSFDESGRRT TTSSAMTSTI GFRVFSCLDD
GMGHASVERI LDTWQEEGIE NSQEILKALD FSLDGNINLT ELTLALENEL LVTKNSIHQA
ALASFKAEIR HLLERVDQVV REKEKLRSDL DKAEKLKSLM ASEVDDHHAA IERRNEYNLR
KLDEEYKERI AALKNELRKE REQILQQAGK QRLELEQEIE KAKTEENYIR DRLALSLKEN
SRLENELLEN AEKLAEYENL TNKLQRNLEN VLAEKFGDLD PSSAEFFLQE ERLTQMRNEY
ERQCRVLQDQ VDELQSELEE YRAQGRVLRL PLKNSPSEEV EANSGGIEPE HGLGSEECNP
LNMSIEAELV IEQMKEQHHR DICCLRLELE DKVRHYEKQL DETVVSCKKA QENMKQRHEN
ETHTLEKQIS DLKNEIAELQ GQAAVLKEAH HEATCRHEEE KKQLQVKLEE EKTHLQEKLR
LQHEMELKAR LTQAQASFER EREGLQSSAW TEEKVRGLTQ ELEQFHQEQL TSLVEKHTLE
KEELRKELLE KHQRELQEGR EKMETECNRR TSQIEAQFQS DCQKVTERCE SALQSLEGRY
RQELKDLQEQ QREEKSQWEF EKDELTQECA EAQELLKETL KREKTTSLVL TQEREMLEKT
YKEHLNSMVV ERQQLLQDLE DLRNVSETQQ SLLSDQILEL KSSHKRELRE REEVLCQAGA
SEQLASQRLE RLEMEHDQER QEMMSKLLAM ENIHKATCET ADRERAEMST EISRLQSKIK
EMQQATSPLS MLQSGCQVIG EEEVEGDGAL SLLQQGEQLL EENGDVLLSL QRAHEQAVKE
NVKMATEISR LQQRLQKLEP GLVMSSCLDE PATEFFGNTA EQTEQFLQQN RTKQVEGVTR
RHVLSDLEDD EVRDLGSTGT SSVQRQEVKI EESEASVEGF SELENSEETR TESWELKNQI
SQLQEQLMML CADCDRASEK KQDLLFDVSV LKKKLKMLER IPEASPKYKL LYEDVSREND
CLQEELRMME TRYDEALENN KELTAEVFRL QDELKKMEEV TETFLSLEKS YDEVKIENEG
LNVLVLRLQG KIEKLQESVV QRCDCCLWEA SLENLEIEPD GNILQLNQTL EECVPRVRSV
HHVIEECKQE NQYLEGNTQL LEKVKAHEIA WLHGTIQTHQ ERPRVQNQVI LEENTTLLGF
QDKHFQHQAT IAELELEKTK LQELTRKLKE RVTILVKQKD VLSHGEKEEE LKAMMHDLQI
TCSEMQQKVE LLRYESEKLQ QENSILRNEI TTLNEEDSIS NLKLGTLNGS QEEMWQKTET
VKQENAAVQK MVENLKKQIS ELKIKNQQLD LENTELSQKN SQNQEKLQEL NQRLTEMLCQ
KEKEPGNSAL EEREQEKFNL KEELERCKVQ SSTLVSSLEA ELSEVKIQTH IVQQENHLLK
DELEKMKQLH RCPDLSDFQQ KISSVLSYNE KLLKEKEALS EELNSCVDKL AKSSLLEHRI
ATMKQEQKSW EHQSASLKSQ LVASQEKVQN LEDTVQNVNL QMSRMKSDLR VTQQEKEALK
QEVMSLHKQL QNAGGKSWAP EIATHPSGLH NQQKRLSWDK LDHLMNEEQQ LLWQENERLQ
TMVQNTKAEL THSREKVRQL ESNLLPKHQK HLNPSGTMNP TEQEKLSLKR ECDQFQKEQS
PANRKVSQMN SLEQELETIH LENEGLKKKQ VKLDEQLMEM QHLRSTATPS PSPHAWDLQL
LQQQACPMVP REQFLQLQRQ LLQAERINQH LQEELENRTS ETNTPQGNQE QLVTVMEERM
IEVEQKLKLV KRLLQEKVNQ LKEQLCKNTK ADAMVKDLYV ENAQLLKALE VTEQRQKTAE
KKNYLLEEKI ASLSNIVRNL TPAPLTSTPP LRS*
mutated AA sequence MDEVEQDQHE ARLKELFDSF DTTGTGSLGQ EELTDLCHML SLEEVAPVLQ QTLLQDNLLG
RVHFDQFKEA LILILSRTLS NEEHFQEPDC SLEAQPKYVR GGKRYGRRSL PEFQESVEEF
PEVTVIEPLD EEARPSHIPA GDCSEHWKTQ RSEEYEAEGQ LRFWNPDDLN ASQSGSSPPQ
DWIEEKLQEV CEDLGITRDG HLNRKKLVSI CEQYGLQNVD GEMLEEVFHN LDPDGTMSVE
DFFYGLFKNG KSLTPSASTP YRQLKRHLSM QSFDESGRRT TTSSAMTSTI GFRVFSCLDD
GMGHASVERI LDTWQEEGIE NSQEILKALD FSLDGNINLT ELTLALENEL LVTKNSIHQA
ALASFKAEIR HLLERVDQVV REKEKLRSDL DKAEKLKSLM ASEVDDHHAA IERRNEYNLR
KLDEEYKERI AALKNELRKE REQILQQAGK QRLELEQEIE KAKTEENYIR DRLALSLKEN
SRLENELLEN AEKLAEYENL TNKLQRNLEN VLAEKFGDLD PSSAEFFLQE ERLTQMRNEY
ERQCRVLQDQ VDELQSELEE YRAQGRVLRL PLKNSPSEEV EANSGGIEPE HGLGSEECNP
LNMSIEAELV IEQMKEQHHR DICCLRLELE DKVRHYEKQL DETVVSCKKA QENMKQRHEN
ETHTLEKQIS DLKNEIAELQ GQAAVLKEAH HEATCRHEEE KKQLQVKLEE EKTHLQEKLR
LQHEMELKAR LTQAQASFER EREGLQSSAW TEEKVRGLTQ ELEQFHQEQL TSLVEKHTLE
KEELRKELLE KHQRELQEGR EKMETECNRR TSQIEAQFQS DCQKVTERCE SALQSLEGRY
RQELKDLQEQ QREEKSQWEF EKDELTQECA EAQELLKETL KREKTTSLVL TQEREMLEKT
YKEHLNSMVV ERQQLLQDLE DLRNVSETQQ SLLSDQILEL KSSHKRELRE REEVLCQAGA
SEQLASQRLE RLEMEHDQER QEMMSKLLAM ENIHKATCET ADRERAEMST EISRLQSKIK
EMQQATSPLS MLQSGCQVIG EEEVEGDGAL SLLQQGEQLL EENGDVLLSL QRAHEQAVKE
NVKMATEISR LQQRLQKLEP GLVMSSCLDE PATEFFGNTA EQTEQFLQQN RTKQVEGVTR
RHVLSDLEDD EVRDLGSTGT SSVQRQEVKI EESEASVEGF SELENSEETR TESWELKNQI
SQLQEQLMML CADCDRASEK KQDLLFDVSV LKKKLKMLER IPEASPKYKL LYEDVSREND
CLQEELRMME TRYDEALENN KELTAEVFRL QDELKKMEEV TETFLSLEKS YDEVKIENEG
LNVLVLRLQG KIEKLQESVV QRCDCCLWEA SLENLEIEPD GNILQLNQTL EECVPRVRSV
HHVIEECKQE NQYLEGNTQL LEKVKAHEIA WLHGTIQTHQ ERPRVQNQVI LEENTTLLGF
QDKHFQHQAT IAELELEKTK LQELTRKLKE RVTILVKQKD VLSHGEKEEE LKAMMHDLQI
TCSEMQQKVE LLRYESEKLQ QENSILRNEI TTLNEEDSIS NLKLGTLNGS QEEMWQKTET
VKQENAAVQK MVENLKKQIS ELKIKNQQLD LENTELSQKN SQNQEKLQEL NQRLTEMLCQ
KEKEPGNSAL EEREQEKFNL KEELERCKVQ SSTLVSSLEA ELSEVKIQTH IVQQENHLLK
DELEKMKQLH RCPDLSDFQQ KISSVLSYNE KLLKEKEALS EELNSCVDKL AKSSLLEHRI
ATMKQEQKSW EHQSASLKSQ LVASQEKVQN LEDTVQNVNL QMSRMKSDLR VTQQEKEALK
QEVMSLHKQL QNAGGKSWAP EIATHPSGLH NQQKRLSWDK LDHLMNEEQQ LLWQENERLQ
TMVQNTKAEL THSREKVRQL ESNLLPKHQK HLNPSGTMNP TEQEKLSLKR ECDQFQKEQS
PANRKVSQMN SLEEELETIH LENEGLKKKQ VKLDEQLMEM QHLRSTATPS PSPHAWDLQL
LQQQACPMVP REQFLQLQRQ LLQAERINQH LQEELENRTS ETNTPQGNQE QLVTVMEERM
IEVEQKLKLV KRLLQEKVNQ LKEQLCKNTK ADAMVKDLYV ENAQLLKALE VTEQRQKTAE
KKNYLLEEKI ASLSNIVRNL TPAPLTSTPP LRS*
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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999642604354251 (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) chr14:51202311G>CN/A show variant in all transcripts   IGV
HGNC symbol NIN
Ensembl transcript ID ENST00000324330
Genbank transcript ID N/A
UniProt peptide Q8N4C6
alteration type single base exchange
alteration region CDS
DNA changes c.5800C>G
cDNA.5991C>G
g.95529C>G
AA changes Q1934E Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1934
frameshift no
known variant Reference ID: rs2295847
databasehomozygous (C/C)heterozygousallele carriers
1000G197574771
ExAC22251355415779
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2390.999
1.8021
(flanking)1.3381
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 increased95526wt: 0.7615 / mu: 0.7686 (marginal change - not scored)wt: CCCTTGAACAAGAAT
mu: CCCTTGAAGAAGAAT		 CTTG|aaca
Donor increased95529wt: 0.27 / mu: 0.35wt: TTGAACAAGAATTAG
mu: TTGAAGAAGAATTAG		 GAAC|aaga
Donor gained955230.95mu: ATTCCCTTGAAGAAG TCCC|ttga
Donor gained955280.61mu: CTTGAAGAAGAATTA TGAA|gaag
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1934NRKVSQMNSLEQELETIHLENEGL
mutated  all conserved    1934NRKVSQMNSLEEELETIHLENEG
Ptroglodytes  all identical  ENSPTRG00000006335  1940NRKVSQMNSLEQELETIHLENEG
Mmulatta  all identical  ENSMMUG00000014658  1933NRKVSQMNSLEQELETIHLENEG
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021068  1924SRKVGQMGSLERGLETIHLENEG
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000008553  1234----CAGGQGHVRLESLQQENEA
Drerio  no alignment  ENSDARG00000060298  n/a
Dmelanogaster  not conserved  FBgn0000228  742EEKAQEISSLQSEIEDL
Celegans  no alignment  T04F8.6  n/a
Xtropicalis  all conserved  ENSXETG00000016467  1871NRKISHLSSLERDLDAIKTENDG
protein features
start (aa)end (aa)featuredetails 
19222067COILEDPotential.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5970 / 5970
position (AA) of stopcodon in wt / mu AA sequence 1990 / 1990
position of stopcodon in wt / mu cDNA 6161 / 6161
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 192 / 192
chromosome 14
strand -1
last intron/exon boundary 6331
theoretical NMD boundary in CDS 6089
length of CDS 5970
coding sequence (CDS) position 5800
cDNA position
(for ins/del: last normal base / first normal base)		 5991
gDNA position
(for ins/del: last normal base / first normal base)		 95529
chromosomal position
(for ins/del: last normal base / first normal base)		 51202311
original gDNA sequence snippet GTCAGATGAATTCCCTTGAACAAGAATTAGAAACAATTCAT
altered gDNA sequence snippet GTCAGATGAATTCCCTTGAAGAAGAATTAGAAACAATTCAT
original cDNA sequence snippet GTCAGATGAATTCCCTTGAACAAGAATTAGAAACAATTCAT
altered cDNA sequence snippet GTCAGATGAATTCCCTTGAAGAAGAATTAGAAACAATTCAT
wildtype AA sequence MDEVEQDQHE ARLKELFDSF DTTGTGSLGQ EELTDLCHML SLEEVAPVLQ QTLLQDNLLG
RVHFDQFKEA LILILSRTLS NEEHFQEPDC SLEAQPKYVR GGKRYGRRSL PEFQESVEEF
PEVTVIEPLD EEARPSHIPA GDCSEHWKTQ RSEEYEAEGQ LRFWNPDDLN ASQSGSSPPQ
DWIEEKLQEV CEDLGITRDG HLNRKKLVSI CEQYGLQNVD GEMLEEVFHN LDPDGTMSVE
DFFYGLFKNG KSLTPSASTP YRQLKRHLSM QSFDESGRRT TTSSAMTSTI GFRVFSCLDD
GMGHASVERI LDTWQEEGIE NSQEILKALD FSLDGNINLT ELTLALENEL LVTKNSIHQA
ALASFKAEIR HLLERVDQVV REKEKLRSDL DKAEKLKSLM ASEVDDHHAA IERRNEYNLR
KLDEEYKERI AALKNELRKE REQILQQAGK QRLELEQEIE KAKTEENYIR DRLALSLKEN
SRLENELLEN AEKLAEYENL TNKLQRNLEN VLAEKFGDLD PSSAEFFLQE ERLTQMRNEY
ERQCRVLQDQ VDELQSELEE YRAQGRVLRL PLKNSPSEEV EANSGGIEPE HGLGSEECNP
LNMSIEAELV IEQMKEQHHR DICCLRLELE DKVRHYEKQL DETVVSCKKA QENMKQRHEN
ETHTLEKQIS DLKNEIAELQ GQAAVLKEAH HEATCRHEEE KKQLQVKLEE EKTHLQEKLR
LQHEMELKAR LTQAQASFER EREGLQSSAW TEEKVRGLTQ ELEQFHQEQL TSLVEKHTLE
KEELRKELLE KHQRELQEGR EKMETECNRR TSQIEAQFQS DCQKVTERCE SALQSLEGRY
RQELKDLQEQ QREEKSQWEF EKDELTQECA EAQELLKETL KREKTTSLVL TQEREMLEKT
YKEHLNSMVV ERQQLLQDLE DLRNVSETQQ SLLSDQILEL KSSHKRELRE REEVLCQAGA
SEQLASQRLE RLEMEHDQER QEMMSKLLAM ENIHKATCET ADRERAEMST EISRLQSKIK
EMQQATSPLS MLQSGCQVIG EEEVEGDGAL SLLQQGEQLL EENGDVLLSL QRAHEQAVKE
NVKMATEISR LQQRLQKLEP GLVMSSCLDE PATEFFGNTA EQTEQFLQQN RTKQVEGVTR
RHVLSDLEDD EVRDLGSTGT SSVQRQEVKI EESEASVEGF SELENSEETR TESWELKNQI
SQLQEQLMML CADCDRASEK KQDLLFDVSV LKKKLKMLER IPEASPKYKL LYEDVSREND
CLQEELRMME TRYDEALENN KELTAEVFRL QDELKKMEEV TETFLSLEKS YDEVKIENEG
LNVLVLRLQG KIEKLQESVV QRCDCCLWEA SLENLEIEPD GNILQLNQTL EECVPRVRSV
HHVIEECKQE NQYLEGNTQL LEKVKAHEIA WLHGTIQTHQ ERPRVQNQVI LEENTTLLGF
QDKHFQHQAT IAELELEKTK LQELTRKLKE RVTILVKQKD VLSHGEKEEE LKAMMHDLQI
TCSEMQQKVE LLRYESEKLQ QENSILRNEI TTLNEEDSIS NLKLGTLNGS QEEMWQKTET
VKQENAAVQK MVENLKKQIS ELKIKNQQLD LENTELSQKN SQNQEKLQEL NQRLTEMLCQ
KEKEPGNSAL EEREQEKFNL KEELERCKVQ SSTLVSSLEA ELSEVKIQTH IVQQENHLLK
DELEKMKQLH RCPDLSDFQQ KISSVLSYNE KLLKEKEALS EELNSCVDKL AKSSLLEHRI
ATMKQEQKSW EHQSASLKSQ LVASQEKVQN LEDTVQNVNL QMSRMKSDLR VTQQEKEALK
QEVMSLHKQL QNAGGKSWAP EIATHPSGLH NQQKRLSWDK LDHLMNEEQQ LLWQENERLQ
TMVQNTKAEL THSREKVRQL ESNLLPKHQK HLNPSGTMNP TEQEKLSLKR ECDQFQKEQS
PANRKVSQMN SLEQELETIH LENEGLKKKQ VKLDEQLMEN SVVGSSREGC SSLPEIVCED
AAPEVHCDA*
mutated AA sequence MDEVEQDQHE ARLKELFDSF DTTGTGSLGQ EELTDLCHML SLEEVAPVLQ QTLLQDNLLG
RVHFDQFKEA LILILSRTLS NEEHFQEPDC SLEAQPKYVR GGKRYGRRSL PEFQESVEEF
PEVTVIEPLD EEARPSHIPA GDCSEHWKTQ RSEEYEAEGQ LRFWNPDDLN ASQSGSSPPQ
DWIEEKLQEV CEDLGITRDG HLNRKKLVSI CEQYGLQNVD GEMLEEVFHN LDPDGTMSVE
DFFYGLFKNG KSLTPSASTP YRQLKRHLSM QSFDESGRRT TTSSAMTSTI GFRVFSCLDD
GMGHASVERI LDTWQEEGIE NSQEILKALD FSLDGNINLT ELTLALENEL LVTKNSIHQA
ALASFKAEIR HLLERVDQVV REKEKLRSDL DKAEKLKSLM ASEVDDHHAA IERRNEYNLR
KLDEEYKERI AALKNELRKE REQILQQAGK QRLELEQEIE KAKTEENYIR DRLALSLKEN
SRLENELLEN AEKLAEYENL TNKLQRNLEN VLAEKFGDLD PSSAEFFLQE ERLTQMRNEY
ERQCRVLQDQ VDELQSELEE YRAQGRVLRL PLKNSPSEEV EANSGGIEPE HGLGSEECNP
LNMSIEAELV IEQMKEQHHR DICCLRLELE DKVRHYEKQL DETVVSCKKA QENMKQRHEN
ETHTLEKQIS DLKNEIAELQ GQAAVLKEAH HEATCRHEEE KKQLQVKLEE EKTHLQEKLR
LQHEMELKAR LTQAQASFER EREGLQSSAW TEEKVRGLTQ ELEQFHQEQL TSLVEKHTLE
KEELRKELLE KHQRELQEGR EKMETECNRR TSQIEAQFQS DCQKVTERCE SALQSLEGRY
RQELKDLQEQ QREEKSQWEF EKDELTQECA EAQELLKETL KREKTTSLVL TQEREMLEKT
YKEHLNSMVV ERQQLLQDLE DLRNVSETQQ SLLSDQILEL KSSHKRELRE REEVLCQAGA
SEQLASQRLE RLEMEHDQER QEMMSKLLAM ENIHKATCET ADRERAEMST EISRLQSKIK
EMQQATSPLS MLQSGCQVIG EEEVEGDGAL SLLQQGEQLL EENGDVLLSL QRAHEQAVKE
NVKMATEISR LQQRLQKLEP GLVMSSCLDE PATEFFGNTA EQTEQFLQQN RTKQVEGVTR
RHVLSDLEDD EVRDLGSTGT SSVQRQEVKI EESEASVEGF SELENSEETR TESWELKNQI
SQLQEQLMML CADCDRASEK KQDLLFDVSV LKKKLKMLER IPEASPKYKL LYEDVSREND
CLQEELRMME TRYDEALENN KELTAEVFRL QDELKKMEEV TETFLSLEKS YDEVKIENEG
LNVLVLRLQG KIEKLQESVV QRCDCCLWEA SLENLEIEPD GNILQLNQTL EECVPRVRSV
HHVIEECKQE NQYLEGNTQL LEKVKAHEIA WLHGTIQTHQ ERPRVQNQVI LEENTTLLGF
QDKHFQHQAT IAELELEKTK LQELTRKLKE RVTILVKQKD VLSHGEKEEE LKAMMHDLQI
TCSEMQQKVE LLRYESEKLQ QENSILRNEI TTLNEEDSIS NLKLGTLNGS QEEMWQKTET
VKQENAAVQK MVENLKKQIS ELKIKNQQLD LENTELSQKN SQNQEKLQEL NQRLTEMLCQ
KEKEPGNSAL EEREQEKFNL KEELERCKVQ SSTLVSSLEA ELSEVKIQTH IVQQENHLLK
DELEKMKQLH RCPDLSDFQQ KISSVLSYNE KLLKEKEALS EELNSCVDKL AKSSLLEHRI
ATMKQEQKSW EHQSASLKSQ LVASQEKVQN LEDTVQNVNL QMSRMKSDLR VTQQEKEALK
QEVMSLHKQL QNAGGKSWAP EIATHPSGLH NQQKRLSWDK LDHLMNEEQQ LLWQENERLQ
TMVQNTKAEL THSREKVRQL ESNLLPKHQK HLNPSGTMNP TEQEKLSLKR ECDQFQKEQS
PANRKVSQMN SLEEELETIH LENEGLKKKQ VKLDEQLMEN SVVGSSREGC SSLPEIVCED
AAPEVHCDA*
speed 0.93 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