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: ENST00000369358
Querying Taster for transcript #2: ENST00000369360
Querying Taster for transcript #3: ENST00000369350
Querying Taster for transcript #4: ENST00000359988
Querying Taster for transcript #5: ENST00000360478
MT speed 3.97 s - this script 4.8531 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
NRAPpolymorphism_automatic0.787358705747533simple_aaeaffectedS455Lsingle base exchangers3189030show file
NRAPpolymorphism_automatic0.787358705747534simple_aaeaffectedS455Lsingle base exchangers3189030show file
NRAPpolymorphism_automatic0.833373349346541simple_aaeaffectedS490Lsingle base exchangers3189030show file
NRAPpolymorphism_automatic0.833373349346541simple_aaeaffectedS219Lsingle base exchangers3189030show file
NRAPpolymorphism_automatic0.833373349346541simple_aaeaffectedS490Lsingle base exchangers3189030show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.212641294252467 (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) chr10:115393929G>AN/A show variant in all transcripts   IGV
HGNC symbol NRAP
Ensembl transcript ID ENST00000369360
Genbank transcript ID N/A
UniProt peptide Q86VF7
alteration type single base exchange
alteration region CDS
DNA changes c.1364C>T
cDNA.1528C>T
g.29877C>T
AA changes S455L Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 455
frameshift no
known variant Reference ID: rs3189030
databasehomozygous (A/A)heterozygousallele carriers
1000G2559461201
ExAC61612044526606
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.2070.536
1.4610.948
(flanking)1.7270.993
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased29873wt: 0.51 / mu: 0.78wt: AGTACAGCTCGGTGA
mu: AGTACAGCTTGGTGA		 TACA|gctc
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      455YRQSIDKLKYSSVTDTPQIVQAKI
mutated  not conserved    455YRQSIDKLKYSLVTDTPQIVQAK
Ptroglodytes  all identical  ENSPTRG00000002951  490QSIDKLKYSSVTDTPQIVQAK
Mmulatta  all identical  ENSMMUG00000001208  490QSIDKLKYSSVTDTPQIVQAK
Fcatus  all identical  ENSFCAG00000011830  490YRQSIDKLKYSSVTNTPQIVQAK
Mmusculus  all identical  ENSMUSG00000049134  487QNIDRMKFSSVTNTPQIVQAK
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000009341  528YRQHIDKLKFSQVTDTPEIVQ
Dmelanogaster  all conserved  FBgn0063485  64IPKAKATAIADTPELKRIA
Celegans  not conserved  F42H10.3  70YPKTVA----SVMADTPEMRRIA
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
487521REPEATNebulin 11.might get lost (downstream of altered splice site)
488488CONFLICTY -> H (in Ref. 3; CAE45811).might get lost (downstream of altered splice site)
522556REPEATNebulin 12.might get lost (downstream of altered splice site)
545545CONFLICTV -> A (in Ref. 5; BAB71328).might get lost (downstream of altered splice site)
558592REPEATNebulin 13.might get lost (downstream of altered splice site)
602626REPEATNebulin 14.might get lost (downstream of altered splice site)
627661REPEATNebulin 15.might get lost (downstream of altered splice site)
658658CONFLICTE -> G (in Ref. 3; CAD89910).might get lost (downstream of altered splice site)
662692REPEATNebulin 16.might get lost (downstream of altered splice site)
702724REPEATNebulin 17.might get lost (downstream of altered splice site)
726760REPEATNebulin 18.might get lost (downstream of altered splice site)
761795REPEATNebulin 19.might get lost (downstream of altered splice site)
797831REPEATNebulin 20.might get lost (downstream of altered splice site)
844869REPEATNebulin 21.might get lost (downstream of altered splice site)
862862CONFLICTK -> E (in Ref. 3; CAD89910/CAE45846).might get lost (downstream of altered splice site)
870896REPEATNebulin 22.might get lost (downstream of altered splice site)
901935REPEATNebulin 23.might get lost (downstream of altered splice site)
945963REPEATNebulin 24.might get lost (downstream of altered splice site)
9691003REPEATNebulin 25.might get lost (downstream of altered splice site)
10041038REPEATNebulin 26.might get lost (downstream of altered splice site)
10401074REPEATNebulin 27.might get lost (downstream of altered splice site)
10781112REPEATNebulin 28.might get lost (downstream of altered splice site)
11131139REPEATNebulin 29.might get lost (downstream of altered splice site)
11441178REPEATNebulin 30.might get lost (downstream of altered splice site)
11831206REPEATNebulin 31.might get lost (downstream of altered splice site)
12101210CONFLICTS -> P (in Ref. 3; CAE45846).might get lost (downstream of altered splice site)
12121246REPEATNebulin 32.might get lost (downstream of altered splice site)
12361236CONFLICTL -> F (in Ref. 3; CAD89910).might get lost (downstream of altered splice site)
12471281REPEATNebulin 33.might get lost (downstream of altered splice site)
12601260CONFLICTA -> V (in Ref. 3; CAE45846).might get lost (downstream of altered splice site)
12831317REPEATNebulin 34.might get lost (downstream of altered splice site)
13211355REPEATNebulin 35.might get lost (downstream of altered splice site)
13481348CONFLICTR -> K (in Ref. 3; CAE45846).might get lost (downstream of altered splice site)
13561390REPEATNebulin 36.might get lost (downstream of altered splice site)
13571357CONFLICTF -> L (in Ref. 3; CAD89899).might get lost (downstream of altered splice site)
13911421REPEATNebulin 37.might get lost (downstream of altered splice site)
14141414CONFLICTS -> L (in Ref. 3; CAE45846).might get lost (downstream of altered splice site)
14291449REPEATNebulin 38.might get lost (downstream of altered splice site)
14551481REPEATNebulin 39.might get lost (downstream of altered splice site)
14901524REPEATNebulin 40.might get lost (downstream of altered splice site)
15261560REPEATNebulin 41.might get lost (downstream of altered splice site)
15631563CONFLICTI -> V (in Ref. 3; CAD89910).might get lost (downstream of altered splice site)
15641598REPEATNebulin 42.might get lost (downstream of altered splice site)
15991626REPEATNebulin 43.might get lost (downstream of altered splice site)
16071607CONFLICTP -> H (in Ref. 3; CAD89910).might get lost (downstream of altered splice site)
16401664REPEATNebulin 44.might get lost (downstream of altered splice site)
16721672CONFLICTS -> P (in Ref. 3; CAD38623).might get lost (downstream of altered splice site)
16961696CONFLICTY -> YQ (in Ref. 3; CAD89910/CAD89998 and 4).might get lost (downstream of altered splice site)
16971697CONFLICTR -> Q (in Ref. 3; CAD89899).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5112 / 5112
position (AA) of stopcodon in wt / mu AA sequence 1704 / 1704
position of stopcodon in wt / mu cDNA 5276 / 5276
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 165 / 165
chromosome 10
strand -1
last intron/exon boundary 5172
theoretical NMD boundary in CDS 4957
length of CDS 5112
coding sequence (CDS) position 1364
cDNA position
(for ins/del: last normal base / first normal base)		 1528
gDNA position
(for ins/del: last normal base / first normal base)		 29877
chromosomal position
(for ins/del: last normal base / first normal base)		 115393929
original gDNA sequence snippet CGACAAGTTGAAGTACAGCTCGGTGACTGACACCCCACAGA
altered gDNA sequence snippet CGACAAGTTGAAGTACAGCTTGGTGACTGACACCCCACAGA
original cDNA sequence snippet CGACAAGTTGAAGTACAGCTCGGTGACTGACACCCCACAGA
altered cDNA sequence snippet CGACAAGTTGAAGTACAGCTTGGTGACTGACACCCCACAGA
wildtype AA sequence MNVQPCSRCG YGVYPAEKIS CIDQIWHKAC FHCEVCKMML SVNNFVSHQK KPYCHAHNPK
NNTFTSVYHT PLNLNVRTFP EAISGIHDQE DGEQCKSVFH WDMKSKDKEG APNRQPLANE
RAYWTGYGEG NAWCPGALPD PEIVRMVEAR KSLGEEYTED YEQPRGKGSF PAMITPAYQR
AKKANQLASQ VEYKRGHDER ISRFSTVVDT PELLRSKAGA QLQSDVRYTE DYEQQRGKGS
FPAMITPAYQ IAKRANELAS DVRYHQQYQK EMRGMAGPAI GAEGILTREC ADQYGQGYPE
EYEEHRGKGS FPAMITPAYQ NAKKAHELAS DIKYRQDFNK MKGAAHYHSL PAQDNLVLKQ
AQSVNKLVSE NKYKENYQNH MRGRYEGVGM DRRTLHAMKV GSLASNVAYK ADYKHDIVDY
NYPATLTPSY QTAMKLVPLK DANYRQSIDK LKYSSVTDTP QIVQAKINAQ QLSHVNYRAD
YEKNKLNYTL PQDVPQLVKA KTNAKLFSEV KYKEGWEKTK GKGFEMKLDA MSLLAAKASG
ELASNVHLLL SLKIKYKEEY EKTKGKAMGT ADSRLLHSLQ IAKMSSEVEY KKGFEESKTR
FHLPMDMVNI RHAKKAQTLA SDLDYRKKLH EYTVLPEDMK TQWAKKAYGL QSELQYKADL
AWMKGVGWLT EGSLNLEQAK KAGQLVSEKN YRQRVDELKF TSVTDSSQME HAKKSQELQS
GVAYKAGNEQ SVHQYTISKD EPLFLQARAN AANLSEKLYK SSWENQKAKG FELRLDSLTF
LAAKAKRDLA SEVKYKEDYE RSRGKLIGAK DVQGDSQMSH SLQMSKLQSE LEYKKGFEDT
KSQCHVSLDM VHLVHARKAQ HLATDVGYKT AEHHFTALPT DMKVEWAKKA YGLQSDNQYR
ADVKWMKGMG WVATGSLNVE QAKKAGELIS EKKYRQHPDA LKFTSIKDTP EMVQARISYT
QAVDRLYREQ GENIKHHYTP TADLPEVLLA KLNAMNISET RYKESWSKLR DGGYKLRLDA
LPFQAAKASG EIISDYKYKE AFEKMKGQML GSRSLEDDIS LAHSVYATSL QSDVNYKKGF
EHSKAQFHLP LDMAALVHAK KAQTLASNQD YKHPLPQYTS LAEDLRLSCA KKAHKLQSEN
LYRSDLNFMR GVACVIPGTL EIEGRKKASE LISESKYRQH PHSFKYTAVT DTPNLLHAKF
SNQITNERLY KAAGEDARHE YTMTLGLPEF IRAKTNAANL SDARYKESWR NLRAQGYKLT
IEALPFQAAR ASGDIASDFL YRHDFVKERG KLIGPQSVRD DPRIQHCRRM GQLQSELQYR
RGATSSQAQF HLPMDMVHLV HAKNAQALAS DHDYRTQYHK FTALPEDLKM AWAKKAHALQ
SELRYKSDLI GMKGIGWLAL RSPQMESAKK AGELISETKY RKKPDSIKFT TVVDSPDLVH
AKNSYMHCNE RMYRSGDAES LHRYTLIPDH PDFTRARLNA LHLSDKVYRN SWEQTRAGSY
DFRLDAIPFQ TARASREIAS DFRYKEAFLR DRGLQIGYRS VDDDPRMKHF LNVGRLQSDN
EYKKDFAKSR SQFHSSTDQP GLLQAKRSQQ LASDVHYRQP LPQPTCDPEQ LGLRHAQKAH
QLQSDVKYKS DLNLTRGVGW TPPGSYKVEM ARRAAELANA RGLGLQGAYR GAEAVEAGDH
QSGEVNPDAT EILHVKKKKA LLL*
mutated AA sequence MNVQPCSRCG YGVYPAEKIS CIDQIWHKAC FHCEVCKMML SVNNFVSHQK KPYCHAHNPK
NNTFTSVYHT PLNLNVRTFP EAISGIHDQE DGEQCKSVFH WDMKSKDKEG APNRQPLANE
RAYWTGYGEG NAWCPGALPD PEIVRMVEAR KSLGEEYTED YEQPRGKGSF PAMITPAYQR
AKKANQLASQ VEYKRGHDER ISRFSTVVDT PELLRSKAGA QLQSDVRYTE DYEQQRGKGS
FPAMITPAYQ IAKRANELAS DVRYHQQYQK EMRGMAGPAI GAEGILTREC ADQYGQGYPE
EYEEHRGKGS FPAMITPAYQ NAKKAHELAS DIKYRQDFNK MKGAAHYHSL PAQDNLVLKQ
AQSVNKLVSE NKYKENYQNH MRGRYEGVGM DRRTLHAMKV GSLASNVAYK ADYKHDIVDY
NYPATLTPSY QTAMKLVPLK DANYRQSIDK LKYSLVTDTP QIVQAKINAQ QLSHVNYRAD
YEKNKLNYTL PQDVPQLVKA KTNAKLFSEV KYKEGWEKTK GKGFEMKLDA MSLLAAKASG
ELASNVHLLL SLKIKYKEEY EKTKGKAMGT ADSRLLHSLQ IAKMSSEVEY KKGFEESKTR
FHLPMDMVNI RHAKKAQTLA SDLDYRKKLH EYTVLPEDMK TQWAKKAYGL QSELQYKADL
AWMKGVGWLT EGSLNLEQAK KAGQLVSEKN YRQRVDELKF TSVTDSSQME HAKKSQELQS
GVAYKAGNEQ SVHQYTISKD EPLFLQARAN AANLSEKLYK SSWENQKAKG FELRLDSLTF
LAAKAKRDLA SEVKYKEDYE RSRGKLIGAK DVQGDSQMSH SLQMSKLQSE LEYKKGFEDT
KSQCHVSLDM VHLVHARKAQ HLATDVGYKT AEHHFTALPT DMKVEWAKKA YGLQSDNQYR
ADVKWMKGMG WVATGSLNVE QAKKAGELIS EKKYRQHPDA LKFTSIKDTP EMVQARISYT
QAVDRLYREQ GENIKHHYTP TADLPEVLLA KLNAMNISET RYKESWSKLR DGGYKLRLDA
LPFQAAKASG EIISDYKYKE AFEKMKGQML GSRSLEDDIS LAHSVYATSL QSDVNYKKGF
EHSKAQFHLP LDMAALVHAK KAQTLASNQD YKHPLPQYTS LAEDLRLSCA KKAHKLQSEN
LYRSDLNFMR GVACVIPGTL EIEGRKKASE LISESKYRQH PHSFKYTAVT DTPNLLHAKF
SNQITNERLY KAAGEDARHE YTMTLGLPEF IRAKTNAANL SDARYKESWR NLRAQGYKLT
IEALPFQAAR ASGDIASDFL YRHDFVKERG KLIGPQSVRD DPRIQHCRRM GQLQSELQYR
RGATSSQAQF HLPMDMVHLV HAKNAQALAS DHDYRTQYHK FTALPEDLKM AWAKKAHALQ
SELRYKSDLI GMKGIGWLAL RSPQMESAKK AGELISETKY RKKPDSIKFT TVVDSPDLVH
AKNSYMHCNE RMYRSGDAES LHRYTLIPDH PDFTRARLNA LHLSDKVYRN SWEQTRAGSY
DFRLDAIPFQ TARASREIAS DFRYKEAFLR DRGLQIGYRS VDDDPRMKHF LNVGRLQSDN
EYKKDFAKSR SQFHSSTDQP GLLQAKRSQQ LASDVHYRQP LPQPTCDPEQ LGLRHAQKAH
QLQSDVKYKS DLNLTRGVGW TPPGSYKVEM ARRAAELANA RGLGLQGAYR GAEAVEAGDH
QSGEVNPDAT EILHVKKKKA LLL*
speed 1.24 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: 0.212641294252466 (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) chr10:115393929G>AN/A show variant in all transcripts   IGV
HGNC symbol NRAP
Ensembl transcript ID ENST00000360478
Genbank transcript ID NM_006175
UniProt peptide Q86VF7
alteration type single base exchange
alteration region CDS
DNA changes c.1364C>T
cDNA.1528C>T
g.29877C>T
AA changes S455L Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 455
frameshift no
known variant Reference ID: rs3189030
databasehomozygous (A/A)heterozygousallele carriers
1000G2559461201
ExAC61612044526606
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.2070.536
1.4610.948
(flanking)1.7270.993
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased29873wt: 0.51 / mu: 0.78wt: AGTACAGCTCGGTGA
mu: AGTACAGCTTGGTGA		 TACA|gctc
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      455YRQSIDKLKYSSVTDTPQIVQAKI
mutated  not conserved    455YRQSIDKLKYSLVTDTPQIVQAK
Ptroglodytes  all identical  ENSPTRG00000002951  490QSIDKLKYSSVTDTPQIVQAK
Mmulatta  all identical  ENSMMUG00000001208  490QSIDKLKYSSVTDTPQIVQAK
Fcatus  all identical  ENSFCAG00000011830  490YRQSIDKLKYSSVTNTPQIVQAK
Mmusculus  all identical  ENSMUSG00000049134  487QNIDRMKFSSVTNTPQIVQAK
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000009341  528YRQHIDKLKFSQVTDTPEIVQ
Dmelanogaster  all conserved  FBgn0063485  64IPKAKATAIADTPELKRIA
Celegans  not conserved  F42H10.3  70YPKTVA----SVMADTPEMRRIA
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
487521REPEATNebulin 11.might get lost (downstream of altered splice site)
488488CONFLICTY -> H (in Ref. 3; CAE45811).might get lost (downstream of altered splice site)
522556REPEATNebulin 12.might get lost (downstream of altered splice site)
545545CONFLICTV -> A (in Ref. 5; BAB71328).might get lost (downstream of altered splice site)
558592REPEATNebulin 13.might get lost (downstream of altered splice site)
602626REPEATNebulin 14.might get lost (downstream of altered splice site)
627661REPEATNebulin 15.might get lost (downstream of altered splice site)
658658CONFLICTE -> G (in Ref. 3; CAD89910).might get lost (downstream of altered splice site)
662692REPEATNebulin 16.might get lost (downstream of altered splice site)
702724REPEATNebulin 17.might get lost (downstream of altered splice site)
726760REPEATNebulin 18.might get lost (downstream of altered splice site)
761795REPEATNebulin 19.might get lost (downstream of altered splice site)
797831REPEATNebulin 20.might get lost (downstream of altered splice site)
844869REPEATNebulin 21.might get lost (downstream of altered splice site)
862862CONFLICTK -> E (in Ref. 3; CAD89910/CAE45846).might get lost (downstream of altered splice site)
870896REPEATNebulin 22.might get lost (downstream of altered splice site)
901935REPEATNebulin 23.might get lost (downstream of altered splice site)
945963REPEATNebulin 24.might get lost (downstream of altered splice site)
9691003REPEATNebulin 25.might get lost (downstream of altered splice site)
10041038REPEATNebulin 26.might get lost (downstream of altered splice site)
10401074REPEATNebulin 27.might get lost (downstream of altered splice site)
10781112REPEATNebulin 28.might get lost (downstream of altered splice site)
11131139REPEATNebulin 29.might get lost (downstream of altered splice site)
11441178REPEATNebulin 30.might get lost (downstream of altered splice site)
11831206REPEATNebulin 31.might get lost (downstream of altered splice site)
12101210CONFLICTS -> P (in Ref. 3; CAE45846).might get lost (downstream of altered splice site)
12121246REPEATNebulin 32.might get lost (downstream of altered splice site)
12361236CONFLICTL -> F (in Ref. 3; CAD89910).might get lost (downstream of altered splice site)
12471281REPEATNebulin 33.might get lost (downstream of altered splice site)
12601260CONFLICTA -> V (in Ref. 3; CAE45846).might get lost (downstream of altered splice site)
12831317REPEATNebulin 34.might get lost (downstream of altered splice site)
13211355REPEATNebulin 35.might get lost (downstream of altered splice site)
13481348CONFLICTR -> K (in Ref. 3; CAE45846).might get lost (downstream of altered splice site)
13561390REPEATNebulin 36.might get lost (downstream of altered splice site)
13571357CONFLICTF -> L (in Ref. 3; CAD89899).might get lost (downstream of altered splice site)
13911421REPEATNebulin 37.might get lost (downstream of altered splice site)
14141414CONFLICTS -> L (in Ref. 3; CAE45846).might get lost (downstream of altered splice site)
14291449REPEATNebulin 38.might get lost (downstream of altered splice site)
14551481REPEATNebulin 39.might get lost (downstream of altered splice site)
14901524REPEATNebulin 40.might get lost (downstream of altered splice site)
15261560REPEATNebulin 41.might get lost (downstream of altered splice site)
15631563CONFLICTI -> V (in Ref. 3; CAD89910).might get lost (downstream of altered splice site)
15641598REPEATNebulin 42.might get lost (downstream of altered splice site)
15991626REPEATNebulin 43.might get lost (downstream of altered splice site)
16071607CONFLICTP -> H (in Ref. 3; CAD89910).might get lost (downstream of altered splice site)
16401664REPEATNebulin 44.might get lost (downstream of altered splice site)
16721672CONFLICTS -> P (in Ref. 3; CAD38623).might get lost (downstream of altered splice site)
16961696CONFLICTY -> YQ (in Ref. 3; CAD89910/CAD89998 and 4).might get lost (downstream of altered splice site)
16971697CONFLICTR -> Q (in Ref. 3; CAD89899).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5088 / 5088
position (AA) of stopcodon in wt / mu AA sequence 1696 / 1696
position of stopcodon in wt / mu cDNA 5252 / 5252
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 165 / 165
chromosome 10
strand -1
last intron/exon boundary 5148
theoretical NMD boundary in CDS 4933
length of CDS 5088
coding sequence (CDS) position 1364
cDNA position
(for ins/del: last normal base / first normal base)		 1528
gDNA position
(for ins/del: last normal base / first normal base)		 29877
chromosomal position
(for ins/del: last normal base / first normal base)		 115393929
original gDNA sequence snippet CGACAAGTTGAAGTACAGCTCGGTGACTGACACCCCACAGA
altered gDNA sequence snippet CGACAAGTTGAAGTACAGCTTGGTGACTGACACCCCACAGA
original cDNA sequence snippet CGACAAGTTGAAGTACAGCTCGGTGACTGACACCCCACAGA
altered cDNA sequence snippet CGACAAGTTGAAGTACAGCTTGGTGACTGACACCCCACAGA
wildtype AA sequence MNVQPCSRCG YGVYPAEKIS CIDQIWHKAC FHCEVCKMML SVNNFVSHQK KPYCHAHNPK
NNTFTSVYHT PLNLNVRTFP EAISGIHDQE DGEQCKSVFH WDMKSKDKEG APNRQPLANE
RAYWTGYGEG NAWCPGALPD PEIVRMVEAR KSLGEEYTED YEQPRGKGSF PAMITPAYQR
AKKANQLASQ VEYKRGHDER ISRFSTVVDT PELLRSKAGA QLQSDVRYTE DYEQQRGKGS
FPAMITPAYQ IAKRANELAS DVRYHQQYQK EMRGMAGPAI GAEGILTREC ADQYGQGYPE
EYEEHRGKGS FPAMITPAYQ NAKKAHELAS DIKYRQDFNK MKGAAHYHSL PAQDNLVLKQ
AQSVNKLVSE NKYKENYQNH MRGRYEGVGM DRRTLHAMKV GSLASNVAYK ADYKHDIVDY
NYPATLTPSY QTAMKLVPLK DANYRQSIDK LKYSSVTDTP QIVQAKINAQ QLSHVNYRAD
YEKNKLNYTL PQDVPQLVKA KTNAKLFSEV KYKEGWEKTK GKGFEMKLDA MSLLAAKASG
ELASNIKYKE EYEKTKGKAM GTADSRLLHS LQIAKMSSEV EYKKGFEESK TRFHLPMDMV
NIRHAKKAQT LASDLDYRKK LHEYTVLPED MKTQWAKKAY GLQSELQYKA DLAWMKGVGW
LTEGSLNLEQ AKKAGQLVSE KNYRQRVDEL KFTSVTDSSQ MEHAKKSQEL QSGVAYKAGN
EQSVHQYTIS KDEPLFLQAR ANAANLSEKL YKSSWENQKA KGFELRLDSL TFLAAKAKRD
LASEVKYKED YERSRGKLIG AKDVQGDSQM SHSLQMSKLQ SELEYKKGFE DTKSQCHVSL
DMVHLVHARK AQHLATDVGY KTAEHHFTAL PTDMKVEWAK KAYGLQSDNQ YRADVKWMKG
MGWVATGSLN VEQAKKAGEL ISEKKYRQHP DALKFTSIKD TPEMVQARIS YTQAVDRLYR
EQGENIKHHY TPTADLPEVL LAKLNAMNIS ETRYKESWSK LRDGGYKLRL DALPFQAAKA
SGEIISDYKY KEAFEKMKGQ MLGSRSLEDD ISLAHSVYAT SLQSDVNYKK GFEHSKAQFH
LPLDMAALVH AKKAQTLASN QDYKHPLPQY TSLAEDLRLS CAKKAHKLQS ENLYRSDLNF
MRGVACVIPG TLEIEGRKKA SELISESKYR QHPHSFKYTA VTDTPNLLHA KFSNQITNER
LYKAAGEDAR HEYTMTLGLP EFIRAKTNAA NLSDARYKES WRNLRAQGYK LTIEALPFQA
ARASGDIASD FLYRHDFVKE RGKLIGPQSV RDDPRIQHCR RMGQLQSELQ YRRGATSSQA
QFHLPMDMVH LVHAKNAQAL ASDHDYRTQY HKFTALPEDL KMAWAKKAHA LQSELRYKSD
LIGMKGIGWL ALRSPQMESA KKAGELISET KYRKKPDSIK FTTVVDSPDL VHAKNSYMHC
NERMYRSGDA ESLHRYTLIP DHPDFTRARL NALHLSDKVY RNSWEQTRAG SYDFRLDAIP
FQTARASREI ASDFRYKEAF LRDRGLQIGY RSVDDDPRMK HFLNVGRLQS DNEYKKDFAK
SRSQFHSSTD QPGLLQAKRS QQLASDVHYR QPLPQPTCDP EQLGLRHAQK AHQLQSDVKY
KSDLNLTRGV GWTPPGSYKV EMARRAAELA NARGLGLQGA YRGAEAVEAG DHQSGEVNPD
ATEILHVKKK KALLL*
mutated AA sequence MNVQPCSRCG YGVYPAEKIS CIDQIWHKAC FHCEVCKMML SVNNFVSHQK KPYCHAHNPK
NNTFTSVYHT PLNLNVRTFP EAISGIHDQE DGEQCKSVFH WDMKSKDKEG APNRQPLANE
RAYWTGYGEG NAWCPGALPD PEIVRMVEAR KSLGEEYTED YEQPRGKGSF PAMITPAYQR
AKKANQLASQ VEYKRGHDER ISRFSTVVDT PELLRSKAGA QLQSDVRYTE DYEQQRGKGS
FPAMITPAYQ IAKRANELAS DVRYHQQYQK EMRGMAGPAI GAEGILTREC ADQYGQGYPE
EYEEHRGKGS FPAMITPAYQ NAKKAHELAS DIKYRQDFNK MKGAAHYHSL PAQDNLVLKQ
AQSVNKLVSE NKYKENYQNH MRGRYEGVGM DRRTLHAMKV GSLASNVAYK ADYKHDIVDY
NYPATLTPSY QTAMKLVPLK DANYRQSIDK LKYSLVTDTP QIVQAKINAQ QLSHVNYRAD
YEKNKLNYTL PQDVPQLVKA KTNAKLFSEV KYKEGWEKTK GKGFEMKLDA MSLLAAKASG
ELASNIKYKE EYEKTKGKAM GTADSRLLHS LQIAKMSSEV EYKKGFEESK TRFHLPMDMV
NIRHAKKAQT LASDLDYRKK LHEYTVLPED MKTQWAKKAY GLQSELQYKA DLAWMKGVGW
LTEGSLNLEQ AKKAGQLVSE KNYRQRVDEL KFTSVTDSSQ MEHAKKSQEL QSGVAYKAGN
EQSVHQYTIS KDEPLFLQAR ANAANLSEKL YKSSWENQKA KGFELRLDSL TFLAAKAKRD
LASEVKYKED YERSRGKLIG AKDVQGDSQM SHSLQMSKLQ SELEYKKGFE DTKSQCHVSL
DMVHLVHARK AQHLATDVGY KTAEHHFTAL PTDMKVEWAK KAYGLQSDNQ YRADVKWMKG
MGWVATGSLN VEQAKKAGEL ISEKKYRQHP DALKFTSIKD TPEMVQARIS YTQAVDRLYR
EQGENIKHHY TPTADLPEVL LAKLNAMNIS ETRYKESWSK LRDGGYKLRL DALPFQAAKA
SGEIISDYKY KEAFEKMKGQ MLGSRSLEDD ISLAHSVYAT SLQSDVNYKK GFEHSKAQFH
LPLDMAALVH AKKAQTLASN QDYKHPLPQY TSLAEDLRLS CAKKAHKLQS ENLYRSDLNF
MRGVACVIPG TLEIEGRKKA SELISESKYR QHPHSFKYTA VTDTPNLLHA KFSNQITNER
LYKAAGEDAR HEYTMTLGLP EFIRAKTNAA NLSDARYKES WRNLRAQGYK LTIEALPFQA
ARASGDIASD FLYRHDFVKE RGKLIGPQSV RDDPRIQHCR RMGQLQSELQ YRRGATSSQA
QFHLPMDMVH LVHAKNAQAL ASDHDYRTQY HKFTALPEDL KMAWAKKAHA LQSELRYKSD
LIGMKGIGWL ALRSPQMESA KKAGELISET KYRKKPDSIK FTTVVDSPDL VHAKNSYMHC
NERMYRSGDA ESLHRYTLIP DHPDFTRARL NALHLSDKVY RNSWEQTRAG SYDFRLDAIP
FQTARASREI ASDFRYKEAF LRDRGLQIGY RSVDDDPRMK HFLNVGRLQS DNEYKKDFAK
SRSQFHSSTD QPGLLQAKRS QQLASDVHYR QPLPQPTCDP EQLGLRHAQK AHQLQSDVKY
KSDLNLTRGV GWTPPGSYKV EMARRAAELA NARGLGLQGA YRGAEAVEAG DHQSGEVNPD
ATEILHVKKK KALLL*
speed 0.40 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: 0.166626650653459 (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) chr10:115393929G>AN/A show variant in all transcripts   IGV
HGNC symbol NRAP
Ensembl transcript ID ENST00000369358
Genbank transcript ID N/A
UniProt peptide Q86VF7
alteration type single base exchange
alteration region CDS
DNA changes c.1469C>T
cDNA.1622C>T
g.29877C>T
AA changes S490L Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 490
frameshift no
known variant Reference ID: rs3189030
databasehomozygous (A/A)heterozygousallele carriers
1000G2559461201
ExAC61612044526606
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.2070.536
1.4610.948
(flanking)1.7270.993
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased29873wt: 0.51 / mu: 0.78wt: AGTACAGCTCGGTGA
mu: AGTACAGCTTGGTGA		 TACA|gctc
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      490YRQSIDKLKYSSVTDTPQIVQAKI
mutated  not conserved    490QSIDKLKYSLVTDTPQIVQAK
Ptroglodytes  all identical  ENSPTRG00000002951  490QSIDKLKYSSVTDTPQIVQAK
Mmulatta  all identical  ENSMMUG00000001208  490QSIDKLKYSSVTDTPQIVQAK
Fcatus  all identical  ENSFCAG00000011830  490YRQSIDKLKYSSVTNTPQIVQAK
Mmusculus  all identical  ENSMUSG00000049134  487QNIDRMKFSSVTNTPQIVQAK
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000009341  528YRQHIDKLKFSQVTDTPEIVQ
Dmelanogaster  all conserved  FBgn0063485  64IPKAKATAIADTPELKRIA
Celegans  not conserved  F42H10.3  70YPKTVA----SVMADTPEMRRIA
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
487521REPEATNebulin 11.lost
522556REPEATNebulin 12.might get lost (downstream of altered splice site)
545545CONFLICTV -> A (in Ref. 5; BAB71328).might get lost (downstream of altered splice site)
558592REPEATNebulin 13.might get lost (downstream of altered splice site)
602626REPEATNebulin 14.might get lost (downstream of altered splice site)
627661REPEATNebulin 15.might get lost (downstream of altered splice site)
658658CONFLICTE -> G (in Ref. 3; CAD89910).might get lost (downstream of altered splice site)
662692REPEATNebulin 16.might get lost (downstream of altered splice site)
702724REPEATNebulin 17.might get lost (downstream of altered splice site)
726760REPEATNebulin 18.might get lost (downstream of altered splice site)
761795REPEATNebulin 19.might get lost (downstream of altered splice site)
797831REPEATNebulin 20.might get lost (downstream of altered splice site)
844869REPEATNebulin 21.might get lost (downstream of altered splice site)
862862CONFLICTK -> E (in Ref. 3; CAD89910/CAE45846).might get lost (downstream of altered splice site)
870896REPEATNebulin 22.might get lost (downstream of altered splice site)
901935REPEATNebulin 23.might get lost (downstream of altered splice site)
945963REPEATNebulin 24.might get lost (downstream of altered splice site)
9691003REPEATNebulin 25.might get lost (downstream of altered splice site)
10041038REPEATNebulin 26.might get lost (downstream of altered splice site)
10401074REPEATNebulin 27.might get lost (downstream of altered splice site)
10781112REPEATNebulin 28.might get lost (downstream of altered splice site)
11131139REPEATNebulin 29.might get lost (downstream of altered splice site)
11441178REPEATNebulin 30.might get lost (downstream of altered splice site)
11831206REPEATNebulin 31.might get lost (downstream of altered splice site)
12101210CONFLICTS -> P (in Ref. 3; CAE45846).might get lost (downstream of altered splice site)
12121246REPEATNebulin 32.might get lost (downstream of altered splice site)
12361236CONFLICTL -> F (in Ref. 3; CAD89910).might get lost (downstream of altered splice site)
12471281REPEATNebulin 33.might get lost (downstream of altered splice site)
12601260CONFLICTA -> V (in Ref. 3; CAE45846).might get lost (downstream of altered splice site)
12831317REPEATNebulin 34.might get lost (downstream of altered splice site)
13211355REPEATNebulin 35.might get lost (downstream of altered splice site)
13481348CONFLICTR -> K (in Ref. 3; CAE45846).might get lost (downstream of altered splice site)
13561390REPEATNebulin 36.might get lost (downstream of altered splice site)
13571357CONFLICTF -> L (in Ref. 3; CAD89899).might get lost (downstream of altered splice site)
13911421REPEATNebulin 37.might get lost (downstream of altered splice site)
14141414CONFLICTS -> L (in Ref. 3; CAE45846).might get lost (downstream of altered splice site)
14291449REPEATNebulin 38.might get lost (downstream of altered splice site)
14551481REPEATNebulin 39.might get lost (downstream of altered splice site)
14901524REPEATNebulin 40.might get lost (downstream of altered splice site)
15261560REPEATNebulin 41.might get lost (downstream of altered splice site)
15631563CONFLICTI -> V (in Ref. 3; CAD89910).might get lost (downstream of altered splice site)
15641598REPEATNebulin 42.might get lost (downstream of altered splice site)
15991626REPEATNebulin 43.might get lost (downstream of altered splice site)
16071607CONFLICTP -> H (in Ref. 3; CAD89910).might get lost (downstream of altered splice site)
16401664REPEATNebulin 44.might get lost (downstream of altered splice site)
16721672CONFLICTS -> P (in Ref. 3; CAD38623).might get lost (downstream of altered splice site)
16961696CONFLICTY -> YQ (in Ref. 3; CAD89910/CAD89998 and 4).might get lost (downstream of altered splice site)
16971697CONFLICTR -> Q (in Ref. 3; CAD89899).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5217 / 5217
position (AA) of stopcodon in wt / mu AA sequence 1739 / 1739
position of stopcodon in wt / mu cDNA 5370 / 5370
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 154 / 154
chromosome 10
strand -1
last intron/exon boundary 5266
theoretical NMD boundary in CDS 5062
length of CDS 5217
coding sequence (CDS) position 1469
cDNA position
(for ins/del: last normal base / first normal base)		 1622
gDNA position
(for ins/del: last normal base / first normal base)		 29877
chromosomal position
(for ins/del: last normal base / first normal base)		 115393929
original gDNA sequence snippet CGACAAGTTGAAGTACAGCTCGGTGACTGACACCCCACAGA
altered gDNA sequence snippet CGACAAGTTGAAGTACAGCTTGGTGACTGACACCCCACAGA
original cDNA sequence snippet CGACAAGTTGAAGTACAGCTCGGTGACTGACACCCCACAGA
altered cDNA sequence snippet CGACAAGTTGAAGTACAGCTTGGTGACTGACACCCCACAGA
wildtype AA sequence MNVQPCSRCG YGVYPAEKIS CIDQIWHKAC FHCEVCKMML SVNNFVSHQK KPYCHAHNPK
NNTFTSVYHT PLNLNVRTFP EAISGIHDQE DGEQCKSVFH WDMKSKDKEG APNRQPLANE
RAYWTGYGEG NAWCPGALPD PEIVRMVEAR KSLGEEYTED YEQPRGKGSF PAMITPAYQR
AKKANQLASQ VEYKRGHDER ISRFSTVVDT PELLRSKAGA QLQSDVRYTE DYEQQRGKGS
FPAMITPAYQ IAKRANELAS DVRYHQQYQK EMRGMAGPAI GAEGILTREC ADQYGQGYPE
EYEEHRGKGS FPAMITPAYQ NAKKAHELAS DIKYRQDFNK MKGAAHYHSL PAQDNLVLKQ
AQSVNKLVSE VEYKKDLESS RGHSINYCET PQFRNVSKIS KFTSDNKYKE NYQNHMRGRY
EGVGMDRRTL HAMKVGSLAS NVAYKADYKH DIVDYNYPAT LTPSYQTAMK LVPLKDANYR
QSIDKLKYSS VTDTPQIVQA KINAQQLSHV NYRADYEKNK LNYTLPQDVP QLVKAKTNAK
LFSEVKYKEG WEKTKGKGFE MKLDAMSLLA AKASGELASN VHLLLSLKIK YKEEYEKTKG
KAMGTADSRL LHSLQIAKMS SEVEYKKGFE ESKTRFHLPM DMVNIRHAKK AQTLASDLDY
RKKLHEYTVL PEDMKTQWAK KAYGLQSELQ YKADLAWMKG VGWLTEGSLN LEQAKKAGQL
VSEKNYRQRV DELKFTSVTD SSQMEHAKKS QELQSGVAYK AGNEQSVHQY TISKDEPLFL
QARANAANLS EKLYKSSWEN QKAKGFELRL DSLTFLAAKA KRDLASEVKY KEDYERSRGK
LIGAKDVQGD SQMSHSLQMS KLQSELEYKK GFEDTKSQCH VSLDMVHLVH ARKAQHLATD
VGYKTAEHHF TALPTDMKVE WAKKAYGLQS DNQYRADVKW MKGMGWVATG SLNVEQAKKA
GELISEKKYR QHPDALKFTS IKDTPEMVQA RISYTQAVDR LYREQGENIK HHYTPTADLP
EVLLAKLNAM NISETRYKES WSKLRDGGYK LRLDALPFQA AKASGEIISD YKYKEAFEKM
KGQMLGSRSL EDDISLAHSV YATSLQSDVN YKKGFEHSKA QFHLPLDMAA LVHAKKAQTL
ASNQDYKHPL PQYTSLAEDL RLSCAKKAHK LQSENLYRSD LNFMRGVACV IPGTLEIEGR
KKASELISES KYRQHPHSFK YTAVTDTPNL LHAKFSNQIT NERLYKAAGE DARHEYTMTL
GLPEFIRAKT NAANLSDARY KESWRNLRAQ GYKLTIEALP FQAARASGDI ASDFLYRHDF
VKERGKLIGP QSVRDDPRIQ HCRRMGQLQS ELQYRRGATS SQAQFHLPMD MVHLVHAKNA
QALASDHDYR TQYHKFTALP EDLKMAWAKK AHALQSELRY KSDLIGMKGI GWLALRSPQM
ESAKKAGELI SETKYRKKPD SIKFTTVVDS PDLVHAKNSY MHCNERMYRS GDAESLHRYT
LIPDHPDFTR ARLNALHLSD KVYRNSWEQT RAGSYDFRLD AIPFQTARAS REIASDFRYK
EAFLRDRGLQ IGYRSVDDDP RMKHFLNVGR LQSDNEYKKD FAKSRSQFHS STDQPGLLQA
KRSQQLASDV HYRQPLPQPT CDPEQLGLRH AQKAHQLQSD VKYKSDLNLT RGVGWTPPGS
YKVEMARRAA ELANARGLGL QGAYRGAEAV EAGDHQSGEV NPDATEILHV KKKKALLL*
mutated AA sequence MNVQPCSRCG YGVYPAEKIS CIDQIWHKAC FHCEVCKMML SVNNFVSHQK KPYCHAHNPK
NNTFTSVYHT PLNLNVRTFP EAISGIHDQE DGEQCKSVFH WDMKSKDKEG APNRQPLANE
RAYWTGYGEG NAWCPGALPD PEIVRMVEAR KSLGEEYTED YEQPRGKGSF PAMITPAYQR
AKKANQLASQ VEYKRGHDER ISRFSTVVDT PELLRSKAGA QLQSDVRYTE DYEQQRGKGS
FPAMITPAYQ IAKRANELAS DVRYHQQYQK EMRGMAGPAI GAEGILTREC ADQYGQGYPE
EYEEHRGKGS FPAMITPAYQ NAKKAHELAS DIKYRQDFNK MKGAAHYHSL PAQDNLVLKQ
AQSVNKLVSE VEYKKDLESS RGHSINYCET PQFRNVSKIS KFTSDNKYKE NYQNHMRGRY
EGVGMDRRTL HAMKVGSLAS NVAYKADYKH DIVDYNYPAT LTPSYQTAMK LVPLKDANYR
QSIDKLKYSL VTDTPQIVQA KINAQQLSHV NYRADYEKNK LNYTLPQDVP QLVKAKTNAK
LFSEVKYKEG WEKTKGKGFE MKLDAMSLLA AKASGELASN VHLLLSLKIK YKEEYEKTKG
KAMGTADSRL LHSLQIAKMS SEVEYKKGFE ESKTRFHLPM DMVNIRHAKK AQTLASDLDY
RKKLHEYTVL PEDMKTQWAK KAYGLQSELQ YKADLAWMKG VGWLTEGSLN LEQAKKAGQL
VSEKNYRQRV DELKFTSVTD SSQMEHAKKS QELQSGVAYK AGNEQSVHQY TISKDEPLFL
QARANAANLS EKLYKSSWEN QKAKGFELRL DSLTFLAAKA KRDLASEVKY KEDYERSRGK
LIGAKDVQGD SQMSHSLQMS KLQSELEYKK GFEDTKSQCH VSLDMVHLVH ARKAQHLATD
VGYKTAEHHF TALPTDMKVE WAKKAYGLQS DNQYRADVKW MKGMGWVATG SLNVEQAKKA
GELISEKKYR QHPDALKFTS IKDTPEMVQA RISYTQAVDR LYREQGENIK HHYTPTADLP
EVLLAKLNAM NISETRYKES WSKLRDGGYK LRLDALPFQA AKASGEIISD YKYKEAFEKM
KGQMLGSRSL EDDISLAHSV YATSLQSDVN YKKGFEHSKA QFHLPLDMAA LVHAKKAQTL
ASNQDYKHPL PQYTSLAEDL RLSCAKKAHK LQSENLYRSD LNFMRGVACV IPGTLEIEGR
KKASELISES KYRQHPHSFK YTAVTDTPNL LHAKFSNQIT NERLYKAAGE DARHEYTMTL
GLPEFIRAKT NAANLSDARY KESWRNLRAQ GYKLTIEALP FQAARASGDI ASDFLYRHDF
VKERGKLIGP QSVRDDPRIQ HCRRMGQLQS ELQYRRGATS SQAQFHLPMD MVHLVHAKNA
QALASDHDYR TQYHKFTALP EDLKMAWAKK AHALQSELRY KSDLIGMKGI GWLALRSPQM
ESAKKAGELI SETKYRKKPD SIKFTTVVDS PDLVHAKNSY MHCNERMYRS GDAESLHRYT
LIPDHPDFTR ARLNALHLSD KVYRNSWEQT RAGSYDFRLD AIPFQTARAS REIASDFRYK
EAFLRDRGLQ IGYRSVDDDP RMKHFLNVGR LQSDNEYKKD FAKSRSQFHS STDQPGLLQA
KRSQQLASDV HYRQPLPQPT CDPEQLGLRH AQKAHQLQSD VKYKSDLNLT RGVGWTPPGS
YKVEMARRAA ELANARGLGL QGAYRGAEAV EAGDHQSGEV NPDATEILHV KKKKALLL*
speed 0.40 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: 0.166626650653459 (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) chr10:115393929G>AN/A show variant in all transcripts   IGV
HGNC symbol NRAP
Ensembl transcript ID ENST00000369350
Genbank transcript ID N/A
UniProt peptide Q86VF7
alteration type single base exchange
alteration region CDS
DNA changes c.656C>T
cDNA.667C>T
g.29877C>T
AA changes S219L Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 219
frameshift no
known variant Reference ID: rs3189030
databasehomozygous (A/A)heterozygousallele carriers
1000G2559461201
ExAC61612044526606
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.2070.536
1.4610.948
(flanking)1.7270.993
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased29873wt: 0.51 / mu: 0.78wt: AGTACAGCTCGGTGA
mu: AGTACAGCTTGGTGA		 TACA|gctc
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      219YRQSIDKLKYSSVTDTPQIVQAKI
mutated  not conserved    219YRQSIDKLKYSLVTDTPQIVQAK
Ptroglodytes  all identical  ENSPTRG00000002951  980YRQHPDALKFTSIKDTPEMVQAR
Mmulatta  all identical  ENSMMUG00000001208  972YRQHPDALKFTSIKDTPEMVQAR
Fcatus  all identical  ENSFCAG00000011830  980YRQPPDALKFTSIKDTPEMVQAR
Mmusculus  all identical  ENSMUSG00000049134  487YRQNIDRMKFSSVTNTPQIVQAK
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000009341  528YRQHIDKLKFSQVTDTPEIVQAR
Dmelanogaster  all conserved  FBgn0063485  64IPKAKATAIADTPELKRIA
Celegans  not conserved  F42H10.3  70YPKTVA----SVMADTPEMRRIA
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
203237REPEATNebulin 4.lost
224224CONFLICTS -> N (in Ref. 3; CAD38623).might get lost (downstream of altered splice site)
246273REPEATNebulin 5.might get lost (downstream of altered splice site)
261261CONFLICTD -> G (in Ref. 3; CAD89910).might get lost (downstream of altered splice site)
298307REPEATNebulin 6.might get lost (downstream of altered splice site)
316343REPEATNebulin 7.might get lost (downstream of altered splice site)
338338CONFLICTF -> S (in Ref. 3; CAE45846).might get lost (downstream of altered splice site)
348382REPEATNebulin 8.might get lost (downstream of altered splice site)
389417REPEATNebulin 9.might get lost (downstream of altered splice site)
395395CONFLICTN -> D (in Ref. 3; CAD38623).might get lost (downstream of altered splice site)
419453REPEATNebulin 10.might get lost (downstream of altered splice site)
487521REPEATNebulin 11.might get lost (downstream of altered splice site)
488488CONFLICTY -> H (in Ref. 3; CAE45811).might get lost (downstream of altered splice site)
522556REPEATNebulin 12.might get lost (downstream of altered splice site)
545545CONFLICTV -> A (in Ref. 5; BAB71328).might get lost (downstream of altered splice site)
558592REPEATNebulin 13.might get lost (downstream of altered splice site)
602626REPEATNebulin 14.might get lost (downstream of altered splice site)
627661REPEATNebulin 15.might get lost (downstream of altered splice site)
658658CONFLICTE -> G (in Ref. 3; CAD89910).might get lost (downstream of altered splice site)
662692REPEATNebulin 16.might get lost (downstream of altered splice site)
702724REPEATNebulin 17.might get lost (downstream of altered splice site)
726760REPEATNebulin 18.might get lost (downstream of altered splice site)
761795REPEATNebulin 19.might get lost (downstream of altered splice site)
797831REPEATNebulin 20.might get lost (downstream of altered splice site)
844869REPEATNebulin 21.might get lost (downstream of altered splice site)
862862CONFLICTK -> E (in Ref. 3; CAD89910/CAE45846).might get lost (downstream of altered splice site)
870896REPEATNebulin 22.might get lost (downstream of altered splice site)
901935REPEATNebulin 23.might get lost (downstream of altered splice site)
945963REPEATNebulin 24.might get lost (downstream of altered splice site)
9691003REPEATNebulin 25.might get lost (downstream of altered splice site)
10041038REPEATNebulin 26.might get lost (downstream of altered splice site)
10401074REPEATNebulin 27.might get lost (downstream of altered splice site)
10781112REPEATNebulin 28.might get lost (downstream of altered splice site)
11131139REPEATNebulin 29.might get lost (downstream of altered splice site)
11441178REPEATNebulin 30.might get lost (downstream of altered splice site)
11831206REPEATNebulin 31.might get lost (downstream of altered splice site)
12101210CONFLICTS -> P (in Ref. 3; CAE45846).might get lost (downstream of altered splice site)
12121246REPEATNebulin 32.might get lost (downstream of altered splice site)
12361236CONFLICTL -> F (in Ref. 3; CAD89910).might get lost (downstream of altered splice site)
12471281REPEATNebulin 33.might get lost (downstream of altered splice site)
12601260CONFLICTA -> V (in Ref. 3; CAE45846).might get lost (downstream of altered splice site)
12831317REPEATNebulin 34.might get lost (downstream of altered splice site)
13211355REPEATNebulin 35.might get lost (downstream of altered splice site)
13481348CONFLICTR -> K (in Ref. 3; CAE45846).might get lost (downstream of altered splice site)
13561390REPEATNebulin 36.might get lost (downstream of altered splice site)
13571357CONFLICTF -> L (in Ref. 3; CAD89899).might get lost (downstream of altered splice site)
13911421REPEATNebulin 37.might get lost (downstream of altered splice site)
14141414CONFLICTS -> L (in Ref. 3; CAE45846).might get lost (downstream of altered splice site)
14291449REPEATNebulin 38.might get lost (downstream of altered splice site)
14551481REPEATNebulin 39.might get lost (downstream of altered splice site)
14901524REPEATNebulin 40.might get lost (downstream of altered splice site)
15261560REPEATNebulin 41.might get lost (downstream of altered splice site)
15631563CONFLICTI -> V (in Ref. 3; CAD89910).might get lost (downstream of altered splice site)
15641598REPEATNebulin 42.might get lost (downstream of altered splice site)
15991626REPEATNebulin 43.might get lost (downstream of altered splice site)
16071607CONFLICTP -> H (in Ref. 3; CAD89910).might get lost (downstream of altered splice site)
16401664REPEATNebulin 44.might get lost (downstream of altered splice site)
16721672CONFLICTS -> P (in Ref. 3; CAD38623).might get lost (downstream of altered splice site)
16961696CONFLICTY -> YQ (in Ref. 3; CAD89910/CAD89998 and 4).might get lost (downstream of altered splice site)
16971697CONFLICTR -> Q (in Ref. 3; CAD89899).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2559 / 2559
position (AA) of stopcodon in wt / mu AA sequence 853 / 853
position of stopcodon in wt / mu cDNA 2570 / 2570
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 12 / 12
chromosome 10
strand -1
last intron/exon boundary 2466
theoretical NMD boundary in CDS 2404
length of CDS 2559
coding sequence (CDS) position 656
cDNA position
(for ins/del: last normal base / first normal base)		 667
gDNA position
(for ins/del: last normal base / first normal base)		 29877
chromosomal position
(for ins/del: last normal base / first normal base)		 115393929
original gDNA sequence snippet CGACAAGTTGAAGTACAGCTCGGTGACTGACACCCCACAGA
altered gDNA sequence snippet CGACAAGTTGAAGTACAGCTTGGTGACTGACACCCCACAGA
original cDNA sequence snippet CGACAAGTTGAAGTACAGCTCGGTGACTGACACCCCACAGA
altered cDNA sequence snippet CGACAAGTTGAAGTACAGCTTGGTGACTGACACCCCACAGA
wildtype AA sequence MRGMAGPAIG AEGILTRECA DQYGQGYPEE YEEHRGKGSF PAMITPAYQN AKKAHELASD
IKYRQDFNKM KGAAHYHSLP AQDNLVLKQA QSVNKLVSEV EYKKDLESSR GHSINYCETP
QFRNVSKISK FTSDNKYKEN YQNHMRGRYE GVGMDRRTLH AMKVGSLASN VAYKADYKHD
IVDYNYPATL TPSYQTAMKL VPLKDANYRQ SIDKLKYSSV TDTPQIVQAK INAQQLSHVN
YRADYEKNKL NYTLPQDVPQ LVKAKTNAKL FSEVKYKEGW EKTKGKGFEM KLDAMSLLAA
KASGELASNV HLLLSLKIKY KEEYEKTKGK AMGTADSRLL HSLQIAKMSS EVEYKKGFEE
SKTRFHLPMD MGVGWLTEGS LNLEQAKKAG QLVSEKNYRQ RVDELKFTSV TDSSQMEHAK
KSQELQSGVA YKAGNEQSVH QYTISKDEPL FLQARANAAN LSEFLYRHDF VKERGKLIGP
QSVRDDPRIQ HCRRMGQLQS ELQYRRGATS SQAQFHLPMD MVHLVHAKNA QALASDHDYR
TQYHKFTALP EDLKMAWAKK AHALQSELRY KSDLIGMKGI GWLALRSPQM ESAKKAGELI
SETKYRKKPD SIKFTTVVDS PDLVHAKNSY MHCNERMYRS GDAESLHRYT LIPDHPDFTR
ARLNALHLSD FRYKEAFLRD RGLQIGYRSV DDDPRMKHFL NVGRLQSDNE YKKDFAKSRS
QFHSSTDQPG LLQAKRSQQL ASDVHYRQPL PQPTCDPEQL GLRHAQKAHQ LQSDVKYKSD
LNLTRGVGWT PPGSYKVEMA RRAAELANAR GLGLQGAYRG AEAVEAGDHQ SGEVNPDATE
ILHVKKKKAL LL*
mutated AA sequence MRGMAGPAIG AEGILTRECA DQYGQGYPEE YEEHRGKGSF PAMITPAYQN AKKAHELASD
IKYRQDFNKM KGAAHYHSLP AQDNLVLKQA QSVNKLVSEV EYKKDLESSR GHSINYCETP
QFRNVSKISK FTSDNKYKEN YQNHMRGRYE GVGMDRRTLH AMKVGSLASN VAYKADYKHD
IVDYNYPATL TPSYQTAMKL VPLKDANYRQ SIDKLKYSLV TDTPQIVQAK INAQQLSHVN
YRADYEKNKL NYTLPQDVPQ LVKAKTNAKL FSEVKYKEGW EKTKGKGFEM KLDAMSLLAA
KASGELASNV HLLLSLKIKY KEEYEKTKGK AMGTADSRLL HSLQIAKMSS EVEYKKGFEE
SKTRFHLPMD MGVGWLTEGS LNLEQAKKAG QLVSEKNYRQ RVDELKFTSV TDSSQMEHAK
KSQELQSGVA YKAGNEQSVH QYTISKDEPL FLQARANAAN LSEFLYRHDF VKERGKLIGP
QSVRDDPRIQ HCRRMGQLQS ELQYRRGATS SQAQFHLPMD MVHLVHAKNA QALASDHDYR
TQYHKFTALP EDLKMAWAKK AHALQSELRY KSDLIGMKGI GWLALRSPQM ESAKKAGELI
SETKYRKKPD SIKFTTVVDS PDLVHAKNSY MHCNERMYRS GDAESLHRYT LIPDHPDFTR
ARLNALHLSD FRYKEAFLRD RGLQIGYRSV DDDPRMKHFL NVGRLQSDNE YKKDFAKSRS
QFHSSTDQPG LLQAKRSQQL ASDVHYRQPL PQPTCDPEQL GLRHAQKAHQ LQSDVKYKSD
LNLTRGVGWT PPGSYKVEMA RRAAELANAR GLGLQGAYRG AEAVEAGDHQ SGEVNPDATE
ILHVKKKKAL LL*
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
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.166626650653459 (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) chr10:115393929G>AN/A show variant in all transcripts   IGV
HGNC symbol NRAP
Ensembl transcript ID ENST00000359988
Genbank transcript ID NM_001261463
UniProt peptide Q86VF7
alteration type single base exchange
alteration region CDS
DNA changes c.1469C>T
cDNA.1633C>T
g.29877C>T
AA changes S490L Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 490
frameshift no
known variant Reference ID: rs3189030
databasehomozygous (A/A)heterozygousallele carriers
1000G2559461201
ExAC61612044526606
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.2070.536
1.4610.948
(flanking)1.7270.993
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased29873wt: 0.51 / mu: 0.78wt: AGTACAGCTCGGTGA
mu: AGTACAGCTTGGTGA		 TACA|gctc
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      490YRQSIDKLKYSSVTDTPQIVQAKI
mutated  not conserved    490QSIDKLKYSLVTDTPQIVQAK
Ptroglodytes  all identical  ENSPTRG00000002951  490QSIDKLKYSSVTDTPQIVQAK
Mmulatta  all identical  ENSMMUG00000001208  490QSIDKLKYSSVTDTPQIVQAK
Fcatus  all identical  ENSFCAG00000011830  490YRQSIDKLKYSSVTNTPQIVQAK
Mmusculus  all identical  ENSMUSG00000049134  487QNIDRMKFSSVTNTPQIVQAK
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000009341  528YRQHIDKLKFSQVTDTPEIVQ
Dmelanogaster  all conserved  FBgn0063485  64IPKAKATAIADTPELKRIA
Celegans  not conserved  F42H10.3  70YPKTVA----SVMADTPEMRRIA
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
487521REPEATNebulin 11.lost
522556REPEATNebulin 12.might get lost (downstream of altered splice site)
545545CONFLICTV -> A (in Ref. 5; BAB71328).might get lost (downstream of altered splice site)
558592REPEATNebulin 13.might get lost (downstream of altered splice site)
602626REPEATNebulin 14.might get lost (downstream of altered splice site)
627661REPEATNebulin 15.might get lost (downstream of altered splice site)
658658CONFLICTE -> G (in Ref. 3; CAD89910).might get lost (downstream of altered splice site)
662692REPEATNebulin 16.might get lost (downstream of altered splice site)
702724REPEATNebulin 17.might get lost (downstream of altered splice site)
726760REPEATNebulin 18.might get lost (downstream of altered splice site)
761795REPEATNebulin 19.might get lost (downstream of altered splice site)
797831REPEATNebulin 20.might get lost (downstream of altered splice site)
844869REPEATNebulin 21.might get lost (downstream of altered splice site)
862862CONFLICTK -> E (in Ref. 3; CAD89910/CAE45846).might get lost (downstream of altered splice site)
870896REPEATNebulin 22.might get lost (downstream of altered splice site)
901935REPEATNebulin 23.might get lost (downstream of altered splice site)
945963REPEATNebulin 24.might get lost (downstream of altered splice site)
9691003REPEATNebulin 25.might get lost (downstream of altered splice site)
10041038REPEATNebulin 26.might get lost (downstream of altered splice site)
10401074REPEATNebulin 27.might get lost (downstream of altered splice site)
10781112REPEATNebulin 28.might get lost (downstream of altered splice site)
11131139REPEATNebulin 29.might get lost (downstream of altered splice site)
11441178REPEATNebulin 30.might get lost (downstream of altered splice site)
11831206REPEATNebulin 31.might get lost (downstream of altered splice site)
12101210CONFLICTS -> P (in Ref. 3; CAE45846).might get lost (downstream of altered splice site)
12121246REPEATNebulin 32.might get lost (downstream of altered splice site)
12361236CONFLICTL -> F (in Ref. 3; CAD89910).might get lost (downstream of altered splice site)
12471281REPEATNebulin 33.might get lost (downstream of altered splice site)
12601260CONFLICTA -> V (in Ref. 3; CAE45846).might get lost (downstream of altered splice site)
12831317REPEATNebulin 34.might get lost (downstream of altered splice site)
13211355REPEATNebulin 35.might get lost (downstream of altered splice site)
13481348CONFLICTR -> K (in Ref. 3; CAE45846).might get lost (downstream of altered splice site)
13561390REPEATNebulin 36.might get lost (downstream of altered splice site)
13571357CONFLICTF -> L (in Ref. 3; CAD89899).might get lost (downstream of altered splice site)
13911421REPEATNebulin 37.might get lost (downstream of altered splice site)
14141414CONFLICTS -> L (in Ref. 3; CAE45846).might get lost (downstream of altered splice site)
14291449REPEATNebulin 38.might get lost (downstream of altered splice site)
14551481REPEATNebulin 39.might get lost (downstream of altered splice site)
14901524REPEATNebulin 40.might get lost (downstream of altered splice site)
15261560REPEATNebulin 41.might get lost (downstream of altered splice site)
15631563CONFLICTI -> V (in Ref. 3; CAD89910).might get lost (downstream of altered splice site)
15641598REPEATNebulin 42.might get lost (downstream of altered splice site)
15991626REPEATNebulin 43.might get lost (downstream of altered splice site)
16071607CONFLICTP -> H (in Ref. 3; CAD89910).might get lost (downstream of altered splice site)
16401664REPEATNebulin 44.might get lost (downstream of altered splice site)
16721672CONFLICTS -> P (in Ref. 3; CAD38623).might get lost (downstream of altered splice site)
16961696CONFLICTY -> YQ (in Ref. 3; CAD89910/CAD89998 and 4).might get lost (downstream of altered splice site)
16971697CONFLICTR -> Q (in Ref. 3; CAD89899).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5193 / 5193
position (AA) of stopcodon in wt / mu AA sequence 1731 / 1731
position of stopcodon in wt / mu cDNA 5357 / 5357
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 165 / 165
chromosome 10
strand -1
last intron/exon boundary 5253
theoretical NMD boundary in CDS 5038
length of CDS 5193
coding sequence (CDS) position 1469
cDNA position
(for ins/del: last normal base / first normal base)		 1633
gDNA position
(for ins/del: last normal base / first normal base)		 29877
chromosomal position
(for ins/del: last normal base / first normal base)		 115393929
original gDNA sequence snippet CGACAAGTTGAAGTACAGCTCGGTGACTGACACCCCACAGA
altered gDNA sequence snippet CGACAAGTTGAAGTACAGCTTGGTGACTGACACCCCACAGA
original cDNA sequence snippet CGACAAGTTGAAGTACAGCTCGGTGACTGACACCCCACAGA
altered cDNA sequence snippet CGACAAGTTGAAGTACAGCTTGGTGACTGACACCCCACAGA
wildtype AA sequence MNVQPCSRCG YGVYPAEKIS CIDQIWHKAC FHCEVCKMML SVNNFVSHQK KPYCHAHNPK
NNTFTSVYHT PLNLNVRTFP EAISGIHDQE DGEQCKSVFH WDMKSKDKEG APNRQPLANE
RAYWTGYGEG NAWCPGALPD PEIVRMVEAR KSLGEEYTED YEQPRGKGSF PAMITPAYQR
AKKANQLASQ VEYKRGHDER ISRFSTVVDT PELLRSKAGA QLQSDVRYTE DYEQQRGKGS
FPAMITPAYQ IAKRANELAS DVRYHQQYQK EMRGMAGPAI GAEGILTREC ADQYGQGYPE
EYEEHRGKGS FPAMITPAYQ NAKKAHELAS DIKYRQDFNK MKGAAHYHSL PAQDNLVLKQ
AQSVNKLVSE VEYKKDLESS RGHSINYCET PQFRNVSKIS KFTSDNKYKE NYQNHMRGRY
EGVGMDRRTL HAMKVGSLAS NVAYKADYKH DIVDYNYPAT LTPSYQTAMK LVPLKDANYR
QSIDKLKYSS VTDTPQIVQA KINAQQLSHV NYRADYEKNK LNYTLPQDVP QLVKAKTNAK
LFSEVKYKEG WEKTKGKGFE MKLDAMSLLA AKASGELASN IKYKEEYEKT KGKAMGTADS
RLLHSLQIAK MSSEVEYKKG FEESKTRFHL PMDMVNIRHA KKAQTLASDL DYRKKLHEYT
VLPEDMKTQW AKKAYGLQSE LQYKADLAWM KGVGWLTEGS LNLEQAKKAG QLVSEKNYRQ
RVDELKFTSV TDSSQMEHAK KSQELQSGVA YKAGNEQSVH QYTISKDEPL FLQARANAAN
LSEKLYKSSW ENQKAKGFEL RLDSLTFLAA KAKRDLASEV KYKEDYERSR GKLIGAKDVQ
GDSQMSHSLQ MSKLQSELEY KKGFEDTKSQ CHVSLDMVHL VHARKAQHLA TDVGYKTAEH
HFTALPTDMK VEWAKKAYGL QSDNQYRADV KWMKGMGWVA TGSLNVEQAK KAGELISEKK
YRQHPDALKF TSIKDTPEMV QARISYTQAV DRLYREQGEN IKHHYTPTAD LPEVLLAKLN
AMNISETRYK ESWSKLRDGG YKLRLDALPF QAAKASGEII SDYKYKEAFE KMKGQMLGSR
SLEDDISLAH SVYATSLQSD VNYKKGFEHS KAQFHLPLDM AALVHAKKAQ TLASNQDYKH
PLPQYTSLAE DLRLSCAKKA HKLQSENLYR SDLNFMRGVA CVIPGTLEIE GRKKASELIS
ESKYRQHPHS FKYTAVTDTP NLLHAKFSNQ ITNERLYKAA GEDARHEYTM TLGLPEFIRA
KTNAANLSDA RYKESWRNLR AQGYKLTIEA LPFQAARASG DIASDFLYRH DFVKERGKLI
GPQSVRDDPR IQHCRRMGQL QSELQYRRGA TSSQAQFHLP MDMVHLVHAK NAQALASDHD
YRTQYHKFTA LPEDLKMAWA KKAHALQSEL RYKSDLIGMK GIGWLALRSP QMESAKKAGE
LISETKYRKK PDSIKFTTVV DSPDLVHAKN SYMHCNERMY RSGDAESLHR YTLIPDHPDF
TRARLNALHL SDKVYRNSWE QTRAGSYDFR LDAIPFQTAR ASREIASDFR YKEAFLRDRG
LQIGYRSVDD DPRMKHFLNV GRLQSDNEYK KDFAKSRSQF HSSTDQPGLL QAKRSQQLAS
DVHYRQPLPQ PTCDPEQLGL RHAQKAHQLQ SDVKYKSDLN LTRGVGWTPP GSYKVEMARR
AAELANARGL GLQGAYRGAE AVEAGDHQSG EVNPDATEIL HVKKKKALLL *
mutated AA sequence MNVQPCSRCG YGVYPAEKIS CIDQIWHKAC FHCEVCKMML SVNNFVSHQK KPYCHAHNPK
NNTFTSVYHT PLNLNVRTFP EAISGIHDQE DGEQCKSVFH WDMKSKDKEG APNRQPLANE
RAYWTGYGEG NAWCPGALPD PEIVRMVEAR KSLGEEYTED YEQPRGKGSF PAMITPAYQR
AKKANQLASQ VEYKRGHDER ISRFSTVVDT PELLRSKAGA QLQSDVRYTE DYEQQRGKGS
FPAMITPAYQ IAKRANELAS DVRYHQQYQK EMRGMAGPAI GAEGILTREC ADQYGQGYPE
EYEEHRGKGS FPAMITPAYQ NAKKAHELAS DIKYRQDFNK MKGAAHYHSL PAQDNLVLKQ
AQSVNKLVSE VEYKKDLESS RGHSINYCET PQFRNVSKIS KFTSDNKYKE NYQNHMRGRY
EGVGMDRRTL HAMKVGSLAS NVAYKADYKH DIVDYNYPAT LTPSYQTAMK LVPLKDANYR
QSIDKLKYSL VTDTPQIVQA KINAQQLSHV NYRADYEKNK LNYTLPQDVP QLVKAKTNAK
LFSEVKYKEG WEKTKGKGFE MKLDAMSLLA AKASGELASN IKYKEEYEKT KGKAMGTADS
RLLHSLQIAK MSSEVEYKKG FEESKTRFHL PMDMVNIRHA KKAQTLASDL DYRKKLHEYT
VLPEDMKTQW AKKAYGLQSE LQYKADLAWM KGVGWLTEGS LNLEQAKKAG QLVSEKNYRQ
RVDELKFTSV TDSSQMEHAK KSQELQSGVA YKAGNEQSVH QYTISKDEPL FLQARANAAN
LSEKLYKSSW ENQKAKGFEL RLDSLTFLAA KAKRDLASEV KYKEDYERSR GKLIGAKDVQ
GDSQMSHSLQ MSKLQSELEY KKGFEDTKSQ CHVSLDMVHL VHARKAQHLA TDVGYKTAEH
HFTALPTDMK VEWAKKAYGL QSDNQYRADV KWMKGMGWVA TGSLNVEQAK KAGELISEKK
YRQHPDALKF TSIKDTPEMV QARISYTQAV DRLYREQGEN IKHHYTPTAD LPEVLLAKLN
AMNISETRYK ESWSKLRDGG YKLRLDALPF QAAKASGEII SDYKYKEAFE KMKGQMLGSR
SLEDDISLAH SVYATSLQSD VNYKKGFEHS KAQFHLPLDM AALVHAKKAQ TLASNQDYKH
PLPQYTSLAE DLRLSCAKKA HKLQSENLYR SDLNFMRGVA CVIPGTLEIE GRKKASELIS
ESKYRQHPHS FKYTAVTDTP NLLHAKFSNQ ITNERLYKAA GEDARHEYTM TLGLPEFIRA
KTNAANLSDA RYKESWRNLR AQGYKLTIEA LPFQAARASG DIASDFLYRH DFVKERGKLI
GPQSVRDDPR IQHCRRMGQL QSELQYRRGA TSSQAQFHLP MDMVHLVHAK NAQALASDHD
YRTQYHKFTA LPEDLKMAWA KKAHALQSEL RYKSDLIGMK GIGWLALRSP QMESAKKAGE
LISETKYRKK PDSIKFTTVV DSPDLVHAKN SYMHCNERMY RSGDAESLHR YTLIPDHPDF
TRARLNALHL SDKVYRNSWE QTRAGSYDFR LDAIPFQTAR ASREIASDFR YKEAFLRDRG
LQIGYRSVDD DPRMKHFLNV GRLQSDNEYK KDFAKSRSQF HSSTDQPGLL QAKRSQQLAS
DVHYRQPLPQ PTCDPEQLGL RHAQKAHQLQ SDVKYKSDLN LTRGVGWTPP GSYKVEMARR
AAELANARGL GLQGAYRGAE AVEAGDHQSG EVNPDATEIL HVKKKKALLL *
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
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Problems