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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000306467
Querying Taster for transcript #2: ENST00000328236
Querying Taster for transcript #3: ENST00000306481
MT speed 0 s - this script 3.295611 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CEP120polymorphism_automatic0.998614461110824simple_aaeaffectedL602Vsingle base exchangers6595440show file
CEP120polymorphism_automatic0.998614461110824simple_aaeaffectedL602Vsingle base exchangers6595440show file
CEP120polymorphism_automatic0.998614461110824simple_aaeaffectedL576Vsingle base exchangers6595440show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00138553888917641 (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) chr5:122718736G>CN/A show variant in all transcripts   IGV
HGNC symbol CEP120
Ensembl transcript ID ENST00000306467
Genbank transcript ID N/A
UniProt peptide Q8N960
alteration type single base exchange
alteration region CDS
DNA changes c.1804C>G
cDNA.2109C>G
g.40551C>G
AA changes L602V Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 602
frameshift no
known variant Reference ID: rs6595440
databasehomozygous (C/C)heterozygousallele carriers
1000G44811691617
ExAC105571165322210
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.10.969
0.3560.959
(flanking)0.0370.959
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased40545wt: 0.2478 / mu: 0.2516 (marginal change - not scored)wt: TAGCAGATCTTTCTTACACAGTGACTCTAGAAGATTATGGA
mu: TAGCAGATCTTTCTTACACAGTGACTGTAGAAGATTATGGA		 acag|TGAC
Acc marginally increased40544wt: 0.4020 / mu: 0.4194 (marginal change - not scored)wt: ATAGCAGATCTTTCTTACACAGTGACTCTAGAAGATTATGG
mu: ATAGCAGATCTTTCTTACACAGTGACTGTAGAAGATTATGG		 caca|GTGA
Acc increased40543wt: 0.55 / mu: 0.70wt: GATAGCAGATCTTTCTTACACAGTGACTCTAGAAGATTATG
mu: GATAGCAGATCTTTCTTACACAGTGACTGTAGAAGATTATG		 acac|AGTG
Donor marginally increased40544wt: 0.8801 / mu: 0.8949 (marginal change - not scored)wt: TACACAGTGACTCTA
mu: TACACAGTGACTGTA		 CACA|gtga
Donor marginally increased40548wt: 0.4529 / mu: 0.5220 (marginal change - not scored)wt: CAGTGACTCTAGAAG
mu: CAGTGACTGTAGAAG		 GTGA|ctct
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      602NRIADLSYTVTLEDYGLVKMREIF
mutated  all conserved    602TVEDYGLVKMREI
Ptroglodytes  all identical  ENSPTRG00000017181  602TLEDYGLVKMREI
Mmulatta  all identical  ENSMMUG00000015767  113NRIADLSYTVTLEDYGLVK
Fcatus  no alignment  ENSFCAG00000005023  n/a
Mmusculus  all identical  ENSMUSG00000048799  605YTMTLEDYGLVKMREI
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000011326  614EKVAELSFVATLEDLGFVKTREV
Drerio  all identical  ENSDARG00000091326  635EKLAELCYVAVLEDLGFVKTQDI
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000010260  617NKVAELSYIITLEDYGLVKVREV
protein features
start (aa)end (aa)featuredetails 
669925COILEDPotential.might get lost (downstream of altered splice site)
785785CONFLICTQ -> L (in Ref. 3; BAC04596).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2961 / 2961
position (AA) of stopcodon in wt / mu AA sequence 987 / 987
position of stopcodon in wt / mu cDNA 3266 / 3266
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 306 / 306
chromosome 5
strand -1
last intron/exon boundary 3032
theoretical NMD boundary in CDS 2676
length of CDS 2961
coding sequence (CDS) position 1804
cDNA position
(for ins/del: last normal base / first normal base)		 2109
gDNA position
(for ins/del: last normal base / first normal base)		 40551
chromosomal position
(for ins/del: last normal base / first normal base)		 122718736
original gDNA sequence snippet ATCTTTCTTACACAGTGACTCTAGAAGATTATGGACTAGTA
altered gDNA sequence snippet ATCTTTCTTACACAGTGACTGTAGAAGATTATGGACTAGTA
original cDNA sequence snippet ATCTTTCTTACACAGTGACTCTAGAAGATTATGGACTAGTA
altered cDNA sequence snippet ATCTTTCTTACACAGTGACTGTAGAAGATTATGGACTAGTA
wildtype AA sequence MVSKSDQLLI VVSILEGRHF PKRPKHMLVV EAKFDGEQLA TDPVDHTDQP EFATELAWEI
DRKALHQHRL QRTPIKLQCF ALDPVTSAKE TIGYIVLDLR TAQETKQAPK WYQLLSNKYT
KFKSEIQISI ALETDTKPPV DSFKAKGAPP RDGKVPAILA GLDPRDIVAV LNEEGGYHQI
GPAEYCTDSF IMSVTIAFAT QLEQLIPCTM KLPERQPEFF FYYSLLGNDV TNEPFNDLIN
PNFEPERASV RIRSSVEILR VYLALQSKLQ IHLCCGDQSL GSTEIPLTGL LKKGSTEINQ
HPVTVEGAFT LDPPNRAKQK LAPIPVELAP TVGVSVALQR EGIDSQSLIE LKTQNEHEPE
HSKKKVLTPI KEKTLTGPKS PTVSPVPSHN QSPPTKDDAT ESEVESLQYD KDTKPNPKAS
SSVPASLAQL VTTSNASEVA SGQKIAVPAT SHHFCFSIDL RSIHALEIGF PINCILRYSY
PFFGSAAPIM TNPPVEVRKN MEVFLPQSYC AFDFATMPHQ LQDTFLRIPL LVELWHKDKM
SKDLLLGIAR IQLSNILSSE KTRFLGSNGE QCWRQTYSES VPVIAAQGSN NRIADLSYTV
TLEDYGLVKM REIFISDSSQ GVSAVQQKPS SLPPAPCPSE IQTEPRETLE YKAALELEMW
KEMQEDIFEN QLKQKELAHM QALAEEWKKR DRERESLVKK KVAEYTILEG KLQKTLIDLE
KREQQLASVE SELQREKKEL QSERQRNLQE LQDSIRRAKE DCIHQVELER LKIKQLEEDK
HRLQQQLNDA ENKYKILEKE FQQFKDQQNN KPEIRLQSEI NLLTLEKVEL ERKLESATKS
KLHYKQQWGR ALKELARLKQ REQESQMARL KKQQEELEQM RLRYLAAEEK DTVKTERQEL
LDIRNELNRL RQQEQKQYQD STEIASGKKD GPHGSVLEEG LDDYLTRLIE ERDTLMRTGV
YNHEDRIISE LDRQIREILA KSNASN*
mutated AA sequence MVSKSDQLLI VVSILEGRHF PKRPKHMLVV EAKFDGEQLA TDPVDHTDQP EFATELAWEI
DRKALHQHRL QRTPIKLQCF ALDPVTSAKE TIGYIVLDLR TAQETKQAPK WYQLLSNKYT
KFKSEIQISI ALETDTKPPV DSFKAKGAPP RDGKVPAILA GLDPRDIVAV LNEEGGYHQI
GPAEYCTDSF IMSVTIAFAT QLEQLIPCTM KLPERQPEFF FYYSLLGNDV TNEPFNDLIN
PNFEPERASV RIRSSVEILR VYLALQSKLQ IHLCCGDQSL GSTEIPLTGL LKKGSTEINQ
HPVTVEGAFT LDPPNRAKQK LAPIPVELAP TVGVSVALQR EGIDSQSLIE LKTQNEHEPE
HSKKKVLTPI KEKTLTGPKS PTVSPVPSHN QSPPTKDDAT ESEVESLQYD KDTKPNPKAS
SSVPASLAQL VTTSNASEVA SGQKIAVPAT SHHFCFSIDL RSIHALEIGF PINCILRYSY
PFFGSAAPIM TNPPVEVRKN MEVFLPQSYC AFDFATMPHQ LQDTFLRIPL LVELWHKDKM
SKDLLLGIAR IQLSNILSSE KTRFLGSNGE QCWRQTYSES VPVIAAQGSN NRIADLSYTV
TVEDYGLVKM REIFISDSSQ GVSAVQQKPS SLPPAPCPSE IQTEPRETLE YKAALELEMW
KEMQEDIFEN QLKQKELAHM QALAEEWKKR DRERESLVKK KVAEYTILEG KLQKTLIDLE
KREQQLASVE SELQREKKEL QSERQRNLQE LQDSIRRAKE DCIHQVELER LKIKQLEEDK
HRLQQQLNDA ENKYKILEKE FQQFKDQQNN KPEIRLQSEI NLLTLEKVEL ERKLESATKS
KLHYKQQWGR ALKELARLKQ REQESQMARL KKQQEELEQM RLRYLAAEEK DTVKTERQEL
LDIRNELNRL RQQEQKQYQD STEIASGKKD GPHGSVLEEG LDDYLTRLIE ERDTLMRTGV
YNHEDRIISE LDRQIREILA KSNASN*
speed 0.77 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: 0.00138553888917641 (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) chr5:122718736G>CN/A show variant in all transcripts   IGV
HGNC symbol CEP120
Ensembl transcript ID ENST00000328236
Genbank transcript ID NM_153223
UniProt peptide Q8N960
alteration type single base exchange
alteration region CDS
DNA changes c.1804C>G
cDNA.1920C>G
g.40551C>G
AA changes L602V Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 602
frameshift no
known variant Reference ID: rs6595440
databasehomozygous (C/C)heterozygousallele carriers
1000G44811691617
ExAC105571165322210
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.10.969
0.3560.959
(flanking)0.0370.959
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased40545wt: 0.2478 / mu: 0.2516 (marginal change - not scored)wt: TAGCAGATCTTTCTTACACAGTGACTCTAGAAGATTATGGA
mu: TAGCAGATCTTTCTTACACAGTGACTGTAGAAGATTATGGA		 acag|TGAC
Acc marginally increased40544wt: 0.4020 / mu: 0.4194 (marginal change - not scored)wt: ATAGCAGATCTTTCTTACACAGTGACTCTAGAAGATTATGG
mu: ATAGCAGATCTTTCTTACACAGTGACTGTAGAAGATTATGG		 caca|GTGA
Acc increased40543wt: 0.55 / mu: 0.70wt: GATAGCAGATCTTTCTTACACAGTGACTCTAGAAGATTATG
mu: GATAGCAGATCTTTCTTACACAGTGACTGTAGAAGATTATG		 acac|AGTG
Donor marginally increased40544wt: 0.8801 / mu: 0.8949 (marginal change - not scored)wt: TACACAGTGACTCTA
mu: TACACAGTGACTGTA		 CACA|gtga
Donor marginally increased40548wt: 0.4529 / mu: 0.5220 (marginal change - not scored)wt: CAGTGACTCTAGAAG
mu: CAGTGACTGTAGAAG		 GTGA|ctct
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      602NRIADLSYTVTLEDYGLVKMREIF
mutated  all conserved    602TVEDYGLVKMREI
Ptroglodytes  all identical  ENSPTRG00000017181  602TLEDYGLVKMREI
Mmulatta  all identical  ENSMMUG00000015767  113NRIADLSYTVTLEDYGLVK
Fcatus  no alignment  ENSFCAG00000005023  n/a
Mmusculus  all identical  ENSMUSG00000048799  605YTMTLEDYGLVKMREI
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000011326  614EKVAELSFVATLEDLGFVKTREV
Drerio  all identical  ENSDARG00000091326  635EKLAELCYVAVLEDLGFVKTQDI
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000010260  617NKVAELSYIITLEDYGLVKVREV
protein features
start (aa)end (aa)featuredetails 
669925COILEDPotential.might get lost (downstream of altered splice site)
785785CONFLICTQ -> L (in Ref. 3; BAC04596).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2961 / 2961
position (AA) of stopcodon in wt / mu AA sequence 987 / 987
position of stopcodon in wt / mu cDNA 3077 / 3077
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 117 / 117
chromosome 5
strand -1
last intron/exon boundary 2843
theoretical NMD boundary in CDS 2676
length of CDS 2961
coding sequence (CDS) position 1804
cDNA position
(for ins/del: last normal base / first normal base)		 1920
gDNA position
(for ins/del: last normal base / first normal base)		 40551
chromosomal position
(for ins/del: last normal base / first normal base)		 122718736
original gDNA sequence snippet ATCTTTCTTACACAGTGACTCTAGAAGATTATGGACTAGTA
altered gDNA sequence snippet ATCTTTCTTACACAGTGACTGTAGAAGATTATGGACTAGTA
original cDNA sequence snippet ATCTTTCTTACACAGTGACTCTAGAAGATTATGGACTAGTA
altered cDNA sequence snippet ATCTTTCTTACACAGTGACTGTAGAAGATTATGGACTAGTA
wildtype AA sequence MVSKSDQLLI VVSILEGRHF PKRPKHMLVV EAKFDGEQLA TDPVDHTDQP EFATELAWEI
DRKALHQHRL QRTPIKLQCF ALDPVTSAKE TIGYIVLDLR TAQETKQAPK WYQLLSNKYT
KFKSEIQISI ALETDTKPPV DSFKAKGAPP RDGKVPAILA GLDPRDIVAV LNEEGGYHQI
GPAEYCTDSF IMSVTIAFAT QLEQLIPCTM KLPERQPEFF FYYSLLGNDV TNEPFNDLIN
PNFEPERASV RIRSSVEILR VYLALQSKLQ IHLCCGDQSL GSTEIPLTGL LKKGSTEINQ
HPVTVEGAFT LDPPNRAKQK LAPIPVELAP TVGVSVALQR EGIDSQSLIE LKTQNEHEPE
HSKKKVLTPI KEKTLTGPKS PTVSPVPSHN QSPPTKDDAT ESEVESLQYD KDTKPNPKAS
SSVPASLAQL VTTSNASEVA SGQKIAVPAT SHHFCFSIDL RSIHALEIGF PINCILRYSY
PFFGSAAPIM TNPPVEVRKN MEVFLPQSYC AFDFATMPHQ LQDTFLRIPL LVELWHKDKM
SKDLLLGIAR IQLSNILSSE KTRFLGSNGE QCWRQTYSES VPVIAAQGSN NRIADLSYTV
TLEDYGLVKM REIFISDSSQ GVSAVQQKPS SLPPAPCPSE IQTEPRETLE YKAALELEMW
KEMQEDIFEN QLKQKELAHM QALAEEWKKR DRERESLVKK KVAEYTILEG KLQKTLIDLE
KREQQLASVE SELQREKKEL QSERQRNLQE LQDSIRRAKE DCIHQVELER LKIKQLEEDK
HRLQQQLNDA ENKYKILEKE FQQFKDQQNN KPEIRLQSEI NLLTLEKVEL ERKLESATKS
KLHYKQQWGR ALKELARLKQ REQESQMARL KKQQEELEQM RLRYLAAEEK DTVKTERQEL
LDIRNELNRL RQQEQKQYQD STEIASGKKD GPHGSVLEEG LDDYLTRLIE ERDTLMRTGV
YNHEDRIISE LDRQIREILA KSNASN*
mutated AA sequence MVSKSDQLLI VVSILEGRHF PKRPKHMLVV EAKFDGEQLA TDPVDHTDQP EFATELAWEI
DRKALHQHRL QRTPIKLQCF ALDPVTSAKE TIGYIVLDLR TAQETKQAPK WYQLLSNKYT
KFKSEIQISI ALETDTKPPV DSFKAKGAPP RDGKVPAILA GLDPRDIVAV LNEEGGYHQI
GPAEYCTDSF IMSVTIAFAT QLEQLIPCTM KLPERQPEFF FYYSLLGNDV TNEPFNDLIN
PNFEPERASV RIRSSVEILR VYLALQSKLQ IHLCCGDQSL GSTEIPLTGL LKKGSTEINQ
HPVTVEGAFT LDPPNRAKQK LAPIPVELAP TVGVSVALQR EGIDSQSLIE LKTQNEHEPE
HSKKKVLTPI KEKTLTGPKS PTVSPVPSHN QSPPTKDDAT ESEVESLQYD KDTKPNPKAS
SSVPASLAQL VTTSNASEVA SGQKIAVPAT SHHFCFSIDL RSIHALEIGF PINCILRYSY
PFFGSAAPIM TNPPVEVRKN MEVFLPQSYC AFDFATMPHQ LQDTFLRIPL LVELWHKDKM
SKDLLLGIAR IQLSNILSSE KTRFLGSNGE QCWRQTYSES VPVIAAQGSN NRIADLSYTV
TVEDYGLVKM REIFISDSSQ GVSAVQQKPS SLPPAPCPSE IQTEPRETLE YKAALELEMW
KEMQEDIFEN QLKQKELAHM QALAEEWKKR DRERESLVKK KVAEYTILEG KLQKTLIDLE
KREQQLASVE SELQREKKEL QSERQRNLQE LQDSIRRAKE DCIHQVELER LKIKQLEEDK
HRLQQQLNDA ENKYKILEKE FQQFKDQQNN KPEIRLQSEI NLLTLEKVEL ERKLESATKS
KLHYKQQWGR ALKELARLKQ REQESQMARL KKQQEELEQM RLRYLAAEEK DTVKTERQEL
LDIRNELNRL RQQEQKQYQD STEIASGKKD GPHGSVLEEG LDDYLTRLIE ERDTLMRTGV
YNHEDRIISE LDRQIREILA KSNASN*
speed 0.82 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: 0.00138553888917641 (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) chr5:122718736G>CN/A show variant in all transcripts   IGV
HGNC symbol CEP120
Ensembl transcript ID ENST00000306481
Genbank transcript ID NM_001166226
UniProt peptide Q8N960
alteration type single base exchange
alteration region CDS
DNA changes c.1726C>G
cDNA.1839C>G
g.40551C>G
AA changes L576V Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 576
frameshift no
known variant Reference ID: rs6595440
databasehomozygous (C/C)heterozygousallele carriers
1000G44811691617
ExAC105571165322210
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.10.969
0.3560.959
(flanking)0.0370.959
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased40545wt: 0.2478 / mu: 0.2516 (marginal change - not scored)wt: TAGCAGATCTTTCTTACACAGTGACTCTAGAAGATTATGGA
mu: TAGCAGATCTTTCTTACACAGTGACTGTAGAAGATTATGGA		 acag|TGAC
Acc marginally increased40544wt: 0.4020 / mu: 0.4194 (marginal change - not scored)wt: ATAGCAGATCTTTCTTACACAGTGACTCTAGAAGATTATGG
mu: ATAGCAGATCTTTCTTACACAGTGACTGTAGAAGATTATGG		 caca|GTGA
Acc increased40543wt: 0.55 / mu: 0.70wt: GATAGCAGATCTTTCTTACACAGTGACTCTAGAAGATTATG
mu: GATAGCAGATCTTTCTTACACAGTGACTGTAGAAGATTATG		 acac|AGTG
Donor marginally increased40544wt: 0.8801 / mu: 0.8949 (marginal change - not scored)wt: TACACAGTGACTCTA
mu: TACACAGTGACTGTA		 CACA|gtga
Donor marginally increased40548wt: 0.4529 / mu: 0.5220 (marginal change - not scored)wt: CAGTGACTCTAGAAG
mu: CAGTGACTGTAGAAG		 GTGA|ctct
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      576NRIADLSYTVTLEDYGLVKMREIF
mutated  all conserved    576NRIADLSYTVTVEDYGLVKMREI
Ptroglodytes  all identical  ENSPTRG00000017181  602NRIADLSYTVTLEDYGLVKMREI
Mmulatta  all identical  ENSMMUG00000015767  113NRIADLSYTVTLEDYGLVK
Fcatus  no alignment  ENSFCAG00000005023  n/a
Mmusculus  all identical  ENSMUSG00000048799  605NRILDLSYTMTLEDYGLVKMREI
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000011326  614EKVAELSFVATLED
Drerio  all identical  ENSDARG00000091326  635EKLAELCYVAVLEDLGFVKTQDI
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000010260  617TLEDYGLVKVREV
protein features
start (aa)end (aa)featuredetails 
669925COILEDPotential.might get lost (downstream of altered splice site)
785785CONFLICTQ -> L (in Ref. 3; BAC04596).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2883 / 2883
position (AA) of stopcodon in wt / mu AA sequence 961 / 961
position of stopcodon in wt / mu cDNA 2996 / 2996
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 114 / 114
chromosome 5
strand -1
last intron/exon boundary 2762
theoretical NMD boundary in CDS 2598
length of CDS 2883
coding sequence (CDS) position 1726
cDNA position
(for ins/del: last normal base / first normal base)		 1839
gDNA position
(for ins/del: last normal base / first normal base)		 40551
chromosomal position
(for ins/del: last normal base / first normal base)		 122718736
original gDNA sequence snippet ATCTTTCTTACACAGTGACTCTAGAAGATTATGGACTAGTA
altered gDNA sequence snippet ATCTTTCTTACACAGTGACTGTAGAAGATTATGGACTAGTA
original cDNA sequence snippet ATCTTTCTTACACAGTGACTCTAGAAGATTATGGACTAGTA
altered cDNA sequence snippet ATCTTTCTTACACAGTGACTGTAGAAGATTATGGACTAGTA
wildtype AA sequence MLVVEAKFDG EQLATDPVDH TDQPEFATEL AWEIDRKALH QHRLQRTPIK LQCFALDPVT
SAKETIGYIV LDLRTAQETK QAPKWYQLLS NKYTKFKSEI QISIALETDT KPPVDSFKAK
GAPPRDGKVP AILAGLDPRD IVAVLNEEGG YHQIGPAEYC TDSFIMSVTI AFATQLEQLI
PCTMKLPERQ PEFFFYYSLL GNDVTNEPFN DLINPNFEPE RASVRIRSSV EILRVYLALQ
SKLQIHLCCG DQSLGSTEIP LTGLLKKGST EINQHPVTVE GAFTLDPPNR AKQKLAPIPV
ELAPTVGVSV ALQREGIDSQ SLIELKTQNE HEPEHSKKKV LTPIKEKTLT GPKSPTVSPV
PSHNQSPPTK DDATESEVES LQYDKDTKPN PKASSSVPAS LAQLVTTSNA SEVASGQKIA
VPATSHHFCF SIDLRSIHAL EIGFPINCIL RYSYPFFGSA APIMTNPPVE VRKNMEVFLP
QSYCAFDFAT MPHQLQDTFL RIPLLVELWH KDKMSKDLLL GIARIQLSNI LSSEKTRFLG
SNGEQCWRQT YSESVPVIAA QGSNNRIADL SYTVTLEDYG LVKMREIFIS DSSQGVSAVQ
QKPSSLPPAP CPSEIQTEPR ETLEYKAALE LEMWKEMQED IFENQLKQKE LAHMQALAEE
WKKRDRERES LVKKKVAEYT ILEGKLQKTL IDLEKREQQL ASVESELQRE KKELQSERQR
NLQELQDSIR RAKEDCIHQV ELERLKIKQL EEDKHRLQQQ LNDAENKYKI LEKEFQQFKD
QQNNKPEIRL QSEINLLTLE KVELERKLES ATKSKLHYKQ QWGRALKELA RLKQREQESQ
MARLKKQQEE LEQMRLRYLA AEEKDTVKTE RQELLDIRNE LNRLRQQEQK QYQDSTEIAS
GKKDGPHGSV LEEGLDDYLT RLIEERDTLM RTGVYNHEDR IISELDRQIR EILAKSNASN
*
mutated AA sequence MLVVEAKFDG EQLATDPVDH TDQPEFATEL AWEIDRKALH QHRLQRTPIK LQCFALDPVT
SAKETIGYIV LDLRTAQETK QAPKWYQLLS NKYTKFKSEI QISIALETDT KPPVDSFKAK
GAPPRDGKVP AILAGLDPRD IVAVLNEEGG YHQIGPAEYC TDSFIMSVTI AFATQLEQLI
PCTMKLPERQ PEFFFYYSLL GNDVTNEPFN DLINPNFEPE RASVRIRSSV EILRVYLALQ
SKLQIHLCCG DQSLGSTEIP LTGLLKKGST EINQHPVTVE GAFTLDPPNR AKQKLAPIPV
ELAPTVGVSV ALQREGIDSQ SLIELKTQNE HEPEHSKKKV LTPIKEKTLT GPKSPTVSPV
PSHNQSPPTK DDATESEVES LQYDKDTKPN PKASSSVPAS LAQLVTTSNA SEVASGQKIA
VPATSHHFCF SIDLRSIHAL EIGFPINCIL RYSYPFFGSA APIMTNPPVE VRKNMEVFLP
QSYCAFDFAT MPHQLQDTFL RIPLLVELWH KDKMSKDLLL GIARIQLSNI LSSEKTRFLG
SNGEQCWRQT YSESVPVIAA QGSNNRIADL SYTVTVEDYG LVKMREIFIS DSSQGVSAVQ
QKPSSLPPAP CPSEIQTEPR ETLEYKAALE LEMWKEMQED IFENQLKQKE LAHMQALAEE
WKKRDRERES LVKKKVAEYT ILEGKLQKTL IDLEKREQQL ASVESELQRE KKELQSERQR
NLQELQDSIR RAKEDCIHQV ELERLKIKQL EEDKHRLQQQ LNDAENKYKI LEKEFQQFKD
QQNNKPEIRL QSEINLLTLE KVELERKLES ATKSKLHYKQ QWGRALKELA RLKQREQESQ
MARLKKQQEE LEQMRLRYLA AEEKDTVKTE RQELLDIRNE LNRLRQQEQK QYQDSTEIAS
GKKDGPHGSV LEEGLDDYLT RLIEERDTLM RTGVYNHEDR IISELDRQIR EILAKSNASN
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speed 0.28 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