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: ENST00000295989
Querying Taster for transcript #2: ENST00000456430
Querying Taster for transcript #3: ENST00000454887
MT speed 0 s - this script 4.143567 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CAND2polymorphism_automatic2.0536089495593e-09simple_aaeaffectedA1225Tsingle base exchangers12629133show file
CAND2polymorphism_automatic2.0536089495593e-09simple_aaeaffectedA1108Tsingle base exchangers12629133show file
CAND2polymorphism_automatic1.76173736698981e-06without_aaeaffectedsingle base exchangers12629133show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999997946391 (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) chr3:12875443G>AN/A show variant in all transcripts   IGV
HGNC symbol CAND2
Ensembl transcript ID ENST00000456430
Genbank transcript ID NM_001162499
UniProt peptide O75155
alteration type single base exchange
alteration region CDS
DNA changes c.3673G>A
cDNA.3714G>A
g.37473G>A
AA changes A1225T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1225
frameshift no
known variant Reference ID: rs12629133
databasehomozygous (A/A)heterozygousallele carriers
1000G54011781718
ExAC19243-571913524
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.1320
0.150.007
(flanking)0.8010.076
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained374730.44mu: ATTCCACTTCAGCCC TCCA|cttc
distance from splice site 190
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1225AALFESIQKDSASAPSTDSMELS*
mutated  not conserved    1225AALFESIQKDSTSAPSTDSMELS
Ptroglodytes  all identical  ENSPTRG00000014637  1225AALFESIQKDSASAPSTDSMELS
Mmulatta  not conserved  ENSMMUG00000001339  1108AALFESIQKDSTSAPSTDSMELS
Fcatus  all identical  ENSFCAG00000008340  1107DALFESIQKDSASAPSTDSME
Mmusculus  all identical  ENSMUSG00000030319  1224TTLFESIQKDTASGPSTDSMELS
Ggallus  all identical  ENSGALG00000008420  1228ASLFESIQKDTASLPTTESMDMS
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000005749  1221ATIFESLQGDPL-AGAVESMDTS
Dmelanogaster  not conserved  FBgn0027568  1236NKIFEYIQKDSITGSS
Celegans  not conserved  Y102A5A.1  1262EALANDVLKESQRAVVYDT
Xtropicalis  not conserved  ENSXETG00000001455  1222SLLFENVQKDTVSLCSAESMEIS
protein features
start (aa)end (aa)featuredetails 
12041236REPEATHEAT 26.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3711 / 3711
position (AA) of stopcodon in wt / mu AA sequence 1237 / 1237
position of stopcodon in wt / mu cDNA 3752 / 3752
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 42 / 42
chromosome 3
strand 1
last intron/exon boundary 3525
theoretical NMD boundary in CDS 3433
length of CDS 3711
coding sequence (CDS) position 3673
cDNA position
(for ins/del: last normal base / first normal base)		 3714
gDNA position
(for ins/del: last normal base / first normal base)		 37473
chromosomal position
(for ins/del: last normal base / first normal base)		 12875443
original gDNA sequence snippet AAAGCATCCAGAAGGATTCCGCTTCAGCCCCCAGCACAGAC
altered gDNA sequence snippet AAAGCATCCAGAAGGATTCCACTTCAGCCCCCAGCACAGAC
original cDNA sequence snippet AAAGCATCCAGAAGGATTCCGCTTCAGCCCCCAGCACAGAC
altered cDNA sequence snippet AAAGCATCCAGAAGGATTCCACTTCAGCCCCCAGCACAGAC
wildtype AA sequence MSTAAFHISS LLEKMTSSDK DFRFMATSDL MSELQKDSIQ LDEDSERKVV KMLLRLLEDK
NGEVQNLAVK CLGPLVVKVK EYQVETIVDT LCTNMRSDKE QLRDIAGIGL KTVLSELPPA
ATGSGLATNV CRKITGQLTS AIAQQEDVAV QLEALDILSD MLSRLGVPLG AFHASLLHCL
LPQLSSPRLA VRKRAVGALG HLAAACSTDL FVELADHLLD RLPGPRVPTS PTAIRTLIQC
LGSVGRQAGH RLGAHLDRLV PLVEDFCNLD DDELRESCLQ AFEAFLRKCP KEMGPHVPNV
TSLCLQYIKH DPNYNYDSDE DEEQMETEDS EFSEQESEDE YSDDDDMSWK VRRAAAKCIA
ALISSRPDLL PDFHCTLAPV LIRRFKEREE NVKADVFTAY IVLLRQTQPP KGWLEAMEEP
TQTGSNLHML RGQVPLVVKA LQRQLKDRSV RARQGCFSLL TELAGVLPGS LAEHMPVLVS
GIIFSLADRS SSSTIRMDAL AFLQGLLGTE PAEAFHPHLP ILLPPVMACV ADSFYKIAAE
ALVVLQELVR ALWPLHRPRM LDPEPYVGEM SAVTLARLRA TDLDQEVKER AISCMGHLVG
HLGDRLGDDL EPTLLLLLDR LRNEITRLPA IKALTLVAVS PLQLDLQPIL AEALHILASF
LRKNQRALRL ATLAALDALA QSQGLSLPPS AVQAVLAELP ALVNESDMHV AQLAVDFLAT
VTQAQPASLV EVSGPVLSEL LRLLRSPLLP AGVLAAAEGF LQALVGTRPP CVDYAKLISL
LTAPVYEQAV DGGPGLHKQV FHSLARCVAA LSAACPQEAA STASRLVCDA RSPHSSTGVK
VLAFLSLAEV GQVAGPGHQR ELKAVLLEAL GSPSEDVRAA ASYALGRVGA GSLPDFLPFL
LEQIEAEPRR QYLLLHSLRE ALGAAQPDSL KPYAEDIWAL LFQRCEGAEE GTRGVVAECI
GKLVLVNPSF LLPRLRKQLA AGRPHTRSTV ITAVKFLISD QPHPIDPLLK SFIGEFMESL
QDPDLNVRRA TLAFFNSAVH NKPSLVRDLL DDILPLLYQE TKIRRDLIRE VEMGPFKHTV
DDGLDVRKAA FECMYSLLES CLGQLDICEF LNHVEDGLKD HYDIRMLTFI MVARLATLCP
APVLQRVDRL IEPLRATCTA KVKAGSVKQE FEKQDELKRS AMRAVAALLT IPEVGKSPIM
ADFSSQIRSN PELAALFESI QKDSASAPST DSMELS*
mutated AA sequence MSTAAFHISS LLEKMTSSDK DFRFMATSDL MSELQKDSIQ LDEDSERKVV KMLLRLLEDK
NGEVQNLAVK CLGPLVVKVK EYQVETIVDT LCTNMRSDKE QLRDIAGIGL KTVLSELPPA
ATGSGLATNV CRKITGQLTS AIAQQEDVAV QLEALDILSD MLSRLGVPLG AFHASLLHCL
LPQLSSPRLA VRKRAVGALG HLAAACSTDL FVELADHLLD RLPGPRVPTS PTAIRTLIQC
LGSVGRQAGH RLGAHLDRLV PLVEDFCNLD DDELRESCLQ AFEAFLRKCP KEMGPHVPNV
TSLCLQYIKH DPNYNYDSDE DEEQMETEDS EFSEQESEDE YSDDDDMSWK VRRAAAKCIA
ALISSRPDLL PDFHCTLAPV LIRRFKEREE NVKADVFTAY IVLLRQTQPP KGWLEAMEEP
TQTGSNLHML RGQVPLVVKA LQRQLKDRSV RARQGCFSLL TELAGVLPGS LAEHMPVLVS
GIIFSLADRS SSSTIRMDAL AFLQGLLGTE PAEAFHPHLP ILLPPVMACV ADSFYKIAAE
ALVVLQELVR ALWPLHRPRM LDPEPYVGEM SAVTLARLRA TDLDQEVKER AISCMGHLVG
HLGDRLGDDL EPTLLLLLDR LRNEITRLPA IKALTLVAVS PLQLDLQPIL AEALHILASF
LRKNQRALRL ATLAALDALA QSQGLSLPPS AVQAVLAELP ALVNESDMHV AQLAVDFLAT
VTQAQPASLV EVSGPVLSEL LRLLRSPLLP AGVLAAAEGF LQALVGTRPP CVDYAKLISL
LTAPVYEQAV DGGPGLHKQV FHSLARCVAA LSAACPQEAA STASRLVCDA RSPHSSTGVK
VLAFLSLAEV GQVAGPGHQR ELKAVLLEAL GSPSEDVRAA ASYALGRVGA GSLPDFLPFL
LEQIEAEPRR QYLLLHSLRE ALGAAQPDSL KPYAEDIWAL LFQRCEGAEE GTRGVVAECI
GKLVLVNPSF LLPRLRKQLA AGRPHTRSTV ITAVKFLISD QPHPIDPLLK SFIGEFMESL
QDPDLNVRRA TLAFFNSAVH NKPSLVRDLL DDILPLLYQE TKIRRDLIRE VEMGPFKHTV
DDGLDVRKAA FECMYSLLES CLGQLDICEF LNHVEDGLKD HYDIRMLTFI MVARLATLCP
APVLQRVDRL IEPLRATCTA KVKAGSVKQE FEKQDELKRS AMRAVAALLT IPEVGKSPIM
ADFSSQIRSN PELAALFESI QKDSTSAPST DSMELS*
speed 1.11 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999997946391 (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) chr3:12875443G>AN/A show variant in all transcripts   IGV
HGNC symbol CAND2
Ensembl transcript ID ENST00000295989
Genbank transcript ID NM_012298
UniProt peptide O75155
alteration type single base exchange
alteration region CDS
DNA changes c.3322G>A
cDNA.3571G>A
g.37473G>A
AA changes A1108T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1108
frameshift no
known variant Reference ID: rs12629133
databasehomozygous (A/A)heterozygousallele carriers
1000G54011781718
ExAC19243-571913524
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.1320
0.150.007
(flanking)0.8010.076
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained374730.44mu: ATTCCACTTCAGCCC TCCA|cttc
distance from splice site 190
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1108AALFESIQKDSASAPSTDSMELS*
mutated  not conserved    1108AALFESIQKDSTSAPSTDSMELS
Ptroglodytes  all identical  ENSPTRG00000014637  1225AALFESIQKDSASAPSTDSMELS
Mmulatta  not conserved  ENSMMUG00000001339  1108AALFESIQKDSTSAPSTDSMELS
Fcatus  all identical  ENSFCAG00000008340  1107DALFESIQKDSASAPSTDSME
Mmusculus  all identical  ENSMUSG00000030319  1224TTLFESIQKDTASGPSTDSMELS
Ggallus  all identical  ENSGALG00000008420  1228ASLFESIQKDTASLPTTESMDMS
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000005749  1221GDPL-AGAVESMDTS
Dmelanogaster  not conserved  FBgn0027568  1236NKIFEYIQKDSITGSS
Celegans  not conserved  Y102A5A.1  1262EALANDVLKESQRAVVYDT
Xtropicalis  not conserved  ENSXETG00000001455  1222SLLFENVQKDTVSLCSAESMEIS
protein features
start (aa)end (aa)featuredetails 
11051141REPEATHEAT 24.lost
11571194REPEATHEAT 25.might get lost (downstream of altered splice site)
11731173MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
12041236REPEATHEAT 26.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3360 / 3360
position (AA) of stopcodon in wt / mu AA sequence 1120 / 1120
position of stopcodon in wt / mu cDNA 3609 / 3609
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 250 / 250
chromosome 3
strand 1
last intron/exon boundary 3382
theoretical NMD boundary in CDS 3082
length of CDS 3360
coding sequence (CDS) position 3322
cDNA position
(for ins/del: last normal base / first normal base)		 3571
gDNA position
(for ins/del: last normal base / first normal base)		 37473
chromosomal position
(for ins/del: last normal base / first normal base)		 12875443
original gDNA sequence snippet AAAGCATCCAGAAGGATTCCGCTTCAGCCCCCAGCACAGAC
altered gDNA sequence snippet AAAGCATCCAGAAGGATTCCACTTCAGCCCCCAGCACAGAC
original cDNA sequence snippet AAAGCATCCAGAAGGATTCCGCTTCAGCCCCCAGCACAGAC
altered cDNA sequence snippet AAAGCATCCAGAAGGATTCCACTTCAGCCCCCAGCACAGAC
wildtype AA sequence MSTAAFHISS LLEKMTSSDK DFRFMATSDL MSELQKDSIQ LDEDSERKVV KMLLRLLEDK
NGEVQNLAVK WLGVPLGAFH ASLLHCLLPQ LSSPRLAVRK RAVGALGHLA AACSTDLFVE
LADHLLDRLP GPRVPTSPTA IRTLIQCLGS VGRQAGHRLG AHLDRLVPLV EDFCNLDDDE
LRESCLQAFE AFLRKCPKEM GPHVPNVTSL CLQYIKHDPN YNYDSDEDEE QMETEDSEFS
EQESEDEYSD DDDMSWKVRR AAAKCIAALI SSRPDLLPDF HCTLAPVLIR RFKEREENVK
ADVFTAYIVL LRQTQPPKGW LEAMEEPTQT GSNLHMLRGQ VPLVVKALQR QLKDRSVRAR
QGCFSLLTEL AGVLPGSLAE HMPVLVSGII FSLADRSSSS TIRMDALAFL QGLLGTEPAE
AFHPHLPILL PPVMACVADS FYKIAAEALV VLQELVRALW PLHRPRMLDP EPYVGEMSAV
TLARLRATDL DQEVKERAIS CMGHLVGHLG DRLGDDLEPT LLLLLDRLRN EITRLPAIKA
LTLVAVSPLQ LDLQPILAEA LHILASFLRK NQRALRLATL AALDALAQSQ GLSLPPSAVQ
AVLAELPALV NESDMHVAQL AVDFLATVTQ AQPASLVEVS GPVLSELLRL LRSPLLPAGV
LAAAEGFLQA LVGTRPPCVD YAKLISLLTA PVYEQAVDGG PGLHKQVFHS LARCVAALSA
ACPQEAASTA SRLVCDARSP HSSTGVKVLA FLSLAEVGQV AGPGHQRELK AVLLEALGSP
SEDVRAAASY ALGRVGAGSL PDFLPFLLEQ IEAEPRRQYL LLHSLREALG AAQPDSLKPY
AEDIWALLFQ RCEGAEEGTR GVVAECIGKL VLVNPSFLLP RLRKQLAAGR PHTRSTVITA
VKFLISDQPH PIDPLLKSFI AVHNKPSLVR DLLDDILPLL YQETKIRRDL IREVEMGPFK
HTVDDGLDVR KAAFECMYSL LESCLGQLDI CEFLNHVEDG LKDHYDIRML TFIMVARLAT
LCPAPVLQRV DRLIEPLRAT CTAKVKAGSV KQEFEKQDEL KRSAMRAVAA LLTIPEVGKS
PIMADFSSQI RSNPELAALF ESIQKDSASA PSTDSMELS*
mutated AA sequence MSTAAFHISS LLEKMTSSDK DFRFMATSDL MSELQKDSIQ LDEDSERKVV KMLLRLLEDK
NGEVQNLAVK WLGVPLGAFH ASLLHCLLPQ LSSPRLAVRK RAVGALGHLA AACSTDLFVE
LADHLLDRLP GPRVPTSPTA IRTLIQCLGS VGRQAGHRLG AHLDRLVPLV EDFCNLDDDE
LRESCLQAFE AFLRKCPKEM GPHVPNVTSL CLQYIKHDPN YNYDSDEDEE QMETEDSEFS
EQESEDEYSD DDDMSWKVRR AAAKCIAALI SSRPDLLPDF HCTLAPVLIR RFKEREENVK
ADVFTAYIVL LRQTQPPKGW LEAMEEPTQT GSNLHMLRGQ VPLVVKALQR QLKDRSVRAR
QGCFSLLTEL AGVLPGSLAE HMPVLVSGII FSLADRSSSS TIRMDALAFL QGLLGTEPAE
AFHPHLPILL PPVMACVADS FYKIAAEALV VLQELVRALW PLHRPRMLDP EPYVGEMSAV
TLARLRATDL DQEVKERAIS CMGHLVGHLG DRLGDDLEPT LLLLLDRLRN EITRLPAIKA
LTLVAVSPLQ LDLQPILAEA LHILASFLRK NQRALRLATL AALDALAQSQ GLSLPPSAVQ
AVLAELPALV NESDMHVAQL AVDFLATVTQ AQPASLVEVS GPVLSELLRL LRSPLLPAGV
LAAAEGFLQA LVGTRPPCVD YAKLISLLTA PVYEQAVDGG PGLHKQVFHS LARCVAALSA
ACPQEAASTA SRLVCDARSP HSSTGVKVLA FLSLAEVGQV AGPGHQRELK AVLLEALGSP
SEDVRAAASY ALGRVGAGSL PDFLPFLLEQ IEAEPRRQYL LLHSLREALG AAQPDSLKPY
AEDIWALLFQ RCEGAEEGTR GVVAECIGKL VLVNPSFLLP RLRKQLAAGR PHTRSTVITA
VKFLISDQPH PIDPLLKSFI AVHNKPSLVR DLLDDILPLL YQETKIRRDL IREVEMGPFK
HTVDDGLDVR KAAFECMYSL LESCLGQLDI CEFLNHVEDG LKDHYDIRML TFIMVARLAT
LCPAPVLQRV DRLIEPLRAT CTAKVKAGSV KQEFEKQDEL KRSAMRAVAA LLTIPEVGKS
PIMADFSSQI RSNPELAALF ESIQKDSTSA PSTDSMELS*
speed 1.08 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: without_aae, prob: 0.999998238262633 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr3:12875443G>AN/A show variant in all transcripts   IGV
HGNC symbol CAND2
Ensembl transcript ID ENST00000454887
Genbank transcript ID N/A
UniProt peptide O75155
alteration type single base exchange
alteration region intron
DNA changes g.37473G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs12629133
databasehomozygous (A/A)heterozygousallele carriers
1000G54011781718
ExAC19243-571913524
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.1320
0.150.007
(flanking)0.8010.076
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained374730.44mu: ATTCCACTTCAGCCC TCCA|cttc
distance from splice site 2372
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
83119REPEATHEAT 3.might get lost (downstream of altered splice site)
129167REPEATHEAT 4.might get lost (downstream of altered splice site)
171208REPEATHEAT 5.might get lost (downstream of altered splice site)
204204CONFLICTA -> T (in Ref. 6; BAA31642).might get lost (downstream of altered splice site)
210246REPEATHEAT 6.might get lost (downstream of altered splice site)
254291REPEATHEAT 7.might get lost (downstream of altered splice site)
327368REPEATHEAT 8.might get lost (downstream of altered splice site)
343346COMPBIASPoly-Asp.might get lost (downstream of altered splice site)
372409REPEATHEAT 9.might get lost (downstream of altered splice site)
432469REPEATHEAT 10.might get lost (downstream of altered splice site)
490493COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
517554REPEATHEAT 11.might get lost (downstream of altered splice site)
565604REPEATHEAT 12.might get lost (downstream of altered splice site)
608645REPEATHEAT 13.might get lost (downstream of altered splice site)
614618COMPBIASPoly-Leu.might get lost (downstream of altered splice site)
648685REPEATHEAT 14.might get lost (downstream of altered splice site)
690727REPEATHEAT 15.might get lost (downstream of altered splice site)
731770REPEATHEAT 16.might get lost (downstream of altered splice site)
772813REPEATHEAT 17.might get lost (downstream of altered splice site)
857894REPEATHEAT 18.might get lost (downstream of altered splice site)
896931REPEATHEAT 19.might get lost (downstream of altered splice site)
933966REPEATHEAT 20.might get lost (downstream of altered splice site)
9671003REPEATHEAT 21.might get lost (downstream of altered splice site)
10071044REPEATHEAT 22.might get lost (downstream of altered splice site)
10481084REPEATHEAT 23.might get lost (downstream of altered splice site)
11051141REPEATHEAT 24.might get lost (downstream of altered splice site)
11571194REPEATHEAT 25.might get lost (downstream of altered splice site)
11731173MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
12041236REPEATHEAT 26.might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1 / 1
chromosome 3
strand 1
last intron/exon boundary 470
theoretical NMD boundary in CDS 419
length of CDS 492
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 37473
chromosomal position
(for ins/del: last normal base / first normal base)		 12875443
original gDNA sequence snippet AAAGCATCCAGAAGGATTCCGCTTCAGCCCCCAGCACAGAC
altered gDNA sequence snippet AAAGCATCCAGAAGGATTCCACTTCAGCCCCCAGCACAGAC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MGPFKHTVDD GLDVRKAAFE CMYSLLESCL GQLDICEFLN HVEDGLKDHY DIRMLTFIMV
ARLATLCPAP VLQRVDRLIE PLRATCTAKE PNANSVAWNT QCEDMHALLL GRRLPQHQSQ
HLPYAPAEAA GLCGRLQWLQ DLLPPCLLHF CRGGAADWRG RRP*
mutated AA sequence N/A
speed 0.87 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