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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000367058
Querying Taster for transcript #2: ENST00000367057
Querying Taster for transcript #3: ENST00000367059
Querying Taster for transcript #4: ENST00000458541
MT speed 0 s - this script 4.924994 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CR2polymorphism_automatic5.59552404411079e-14simple_aaeS663Psingle base exchangers4308977show file
CR2polymorphism_automatic1.23482270963926e-07without_aaesingle base exchangers4308977show file
CR2polymorphism_automatic1.23482270963926e-07without_aaesingle base exchangers4308977show file
CR2polymorphism_automatic1.23482270963926e-07without_aaesingle base exchangers4308977show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999944 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:207646898T>CN/A show variant in all transcripts   IGV
HGNC symbol CR2
Ensembl transcript ID ENST00000367057
Genbank transcript ID NM_001006658
UniProt peptide P20023
alteration type single base exchange
alteration region CDS
DNA changes c.1987T>C
cDNA.2176T>C
g.19324T>C
AA changes S663P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 663
frameshift no
known variant Reference ID: rs4308977
databasehomozygous (C/C)heterozygousallele carriers
1000G2689141182
ExAC52712222527496
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3320.029
0.0340.01
(flanking)0.4120.009
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 increased19316wt: 0.4518 / mu: 0.5250 (marginal change - not scored)wt: TAGGGAGTTTTTCTCTTCAGGCTGCCAGTCACCTCCTGGGC
mu: TAGGGAGTTTTTCTCTTCAGGCTGCCAGCCACCTCCTGGGC		 cagg|CTGC
Donor marginally increased19322wt: 0.9838 / mu: 0.9844 (marginal change - not scored)wt: CTGCCAGTCACCTCC
mu: CTGCCAGCCACCTCC		 GCCA|gtca
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      663PEIPVCEKGCQSPPGLHHGRHTGG
mutated  not conserved    663CQPPPGLHHGRHTG
Ptroglodytes  not conserved  ENSPTRG00000041818  663CQPPPGLHHGRHTG
Mmulatta  not conserved  ENSMMUG00000013602  664GCQPPPGLHHGRHTG
Fcatus  not conserved  ENSFCAG00000010589  665KGCPPPFGLQHGRHTG
Mmusculus  not conserved  ENSMUSG00000026616  664EGCE--PMRVHGLPDD
Ggallus  not conserved  ENSGALG00000001164  265PPPQCKEISCVFPEVQGVKKTTA
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000056075  213PDPPKCLDGCPKPE-IPHAIRIG
Dmelanogaster  not conserved  FBgn0032797  576GETPKCDEVFCSFPGYI
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000017110  90TVPEFCIRACDSPPRLD
protein features
start (aa)end (aa)featuredetails 
21971TOPO_DOMExtracellular (Potential).lost
660716DOMAINSushi 11.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3279 / 3279
position (AA) of stopcodon in wt / mu AA sequence 1093 / 1093
position of stopcodon in wt / mu cDNA 3468 / 3468
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 190 / 190
chromosome 1
strand 1
last intron/exon boundary 3487
theoretical NMD boundary in CDS 3247
length of CDS 3279
coding sequence (CDS) position 1987
cDNA position
(for ins/del: last normal base / first normal base)		 2176
gDNA position
(for ins/del: last normal base / first normal base)		 19324
chromosomal position
(for ins/del: last normal base / first normal base)		 207646898
original gDNA sequence snippet TTTTCTCTTCAGGCTGCCAGTCACCTCCTGGGCTCCACCAT
altered gDNA sequence snippet TTTTCTCTTCAGGCTGCCAGCCACCTCCTGGGCTCCACCAT
original cDNA sequence snippet TTTGTGAAAAAGGCTGCCAGTCACCTCCTGGGCTCCACCAT
altered cDNA sequence snippet TTTGTGAAAAAGGCTGCCAGCCACCTCCTGGGCTCCACCAT
wildtype AA sequence MGAAGLLGVF LALVAPGVLG ISCGSPPPIL NGRISYYSTP IAVGTVIRYS CSGTFRLIGE
KSLLCITKDK VDGTWDKPAP KCEYFNKYSS CPEPIVPGGY KIRGSTPYRH GDSVTFACKT
NFSMNGNKSV WCQANNMWGP TRLPTCVSVF PLECPALPMI HNGHHTSENV GSIAPGLSVT
YSCESGYLLV GEKIINCLSS GKWSAVPPTC EEARCKSLGR FPNGKVKEPP ILRVGVTANF
FCDEGYRLQG PPSSRCVIAG QGVAWTKMPV CEEIFCPSPP PILNGRHIGN SLANVSYGSI
VTYTCDPDPE EGVNFILIGE STLRCTVDSQ KTGTWSGPAP RCELSTSAVQ CPHPQILRGR
MVSGQKDRYT YNDTVIFACM FGFTLKGSKQ IRCNAQGTWE PSAPVCEKEC QAPPNILNGQ
KEDRHMVRFD PGTSIKYSCN PGYVLVGEES IQCTSEGVWT PPVPQCKVAA CEATGRQLLT
KPQHQFVRPD VNSSCGEGYK LSGSVYQECQ GTIPWFMEIR LCKEITCPPP PVIYNGAHTG
SSLEDFPYGT TVTYTCNPGP ERGVEFSLIG ESTIRCTSND QERGTWSGPA PLCKLSLLAV
QCSHVHIANG YKISGKEAPY FYNDTVTFKC YSGFTLKGSS QIRCKADNTW DPEIPVCEKG
CQSPPGLHHG RHTGGNTVFF VSGMTVDYTC DPGYLLVGNK SIHCMPSGNW SPSAPRCEET
CQHVRQSLQE LPAGSRVELV NTSCQDGYQL TGHAYQMCQD AENGIWFKKI PLCKVIHCHP
PPVIVNGKHT GMMAENFLYG NEVSYECDQG FYLLGEKKLQ CRSDSKGHGS WSGPSPQCLR
SPPVTRCPNP EVKHGYKLNK THSAYSHNDI VYVDCNPGFI MNGSRVIRCH TDNTWVPGVP
TCIKKAFIGC PPPPKTPNGN HTGGNIARFS PGMSILYSCD QGYLLVGEAL LLCTHEGTWS
QPAPHCKEVN CSSPADMDGI QKGLEPRKMY QYGAVVTLEC EDGYMLEGSP QSQCQSDHQW
NPPLAVCRSR SLAPVLCGIA AGLILLTFLI VITLYVISKH RARNYYTDTS QKEAFHLEAR
EVYSVDPYNP AS*
mutated AA sequence MGAAGLLGVF LALVAPGVLG ISCGSPPPIL NGRISYYSTP IAVGTVIRYS CSGTFRLIGE
KSLLCITKDK VDGTWDKPAP KCEYFNKYSS CPEPIVPGGY KIRGSTPYRH GDSVTFACKT
NFSMNGNKSV WCQANNMWGP TRLPTCVSVF PLECPALPMI HNGHHTSENV GSIAPGLSVT
YSCESGYLLV GEKIINCLSS GKWSAVPPTC EEARCKSLGR FPNGKVKEPP ILRVGVTANF
FCDEGYRLQG PPSSRCVIAG QGVAWTKMPV CEEIFCPSPP PILNGRHIGN SLANVSYGSI
VTYTCDPDPE EGVNFILIGE STLRCTVDSQ KTGTWSGPAP RCELSTSAVQ CPHPQILRGR
MVSGQKDRYT YNDTVIFACM FGFTLKGSKQ IRCNAQGTWE PSAPVCEKEC QAPPNILNGQ
KEDRHMVRFD PGTSIKYSCN PGYVLVGEES IQCTSEGVWT PPVPQCKVAA CEATGRQLLT
KPQHQFVRPD VNSSCGEGYK LSGSVYQECQ GTIPWFMEIR LCKEITCPPP PVIYNGAHTG
SSLEDFPYGT TVTYTCNPGP ERGVEFSLIG ESTIRCTSND QERGTWSGPA PLCKLSLLAV
QCSHVHIANG YKISGKEAPY FYNDTVTFKC YSGFTLKGSS QIRCKADNTW DPEIPVCEKG
CQPPPGLHHG RHTGGNTVFF VSGMTVDYTC DPGYLLVGNK SIHCMPSGNW SPSAPRCEET
CQHVRQSLQE LPAGSRVELV NTSCQDGYQL TGHAYQMCQD AENGIWFKKI PLCKVIHCHP
PPVIVNGKHT GMMAENFLYG NEVSYECDQG FYLLGEKKLQ CRSDSKGHGS WSGPSPQCLR
SPPVTRCPNP EVKHGYKLNK THSAYSHNDI VYVDCNPGFI MNGSRVIRCH TDNTWVPGVP
TCIKKAFIGC PPPPKTPNGN HTGGNIARFS PGMSILYSCD QGYLLVGEAL LLCTHEGTWS
QPAPHCKEVN CSSPADMDGI QKGLEPRKMY QYGAVVTLEC EDGYMLEGSP QSQCQSDHQW
NPPLAVCRSR SLAPVLCGIA AGLILLTFLI VITLYVISKH RARNYYTDTS QKEAFHLEAR
EVYSVDPYNP AS*
speed 1.35 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: 0.999999876517729 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:207646898T>CN/A show variant in all transcripts   IGV
HGNC symbol CR2
Ensembl transcript ID ENST00000367058
Genbank transcript ID NM_001877
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.19324T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs4308977
databasehomozygous (C/C)heterozygousallele carriers
1000G2689141182
ExAC52712222527496
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3320.029
0.0340.01
(flanking)0.4120.009
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 increased19316wt: 0.4518 / mu: 0.5250 (marginal change - not scored)wt: TAGGGAGTTTTTCTCTTCAGGCTGCCAGTCACCTCCTGGGC
mu: TAGGGAGTTTTTCTCTTCAGGCTGCCAGCCACCTCCTGGGC		 cagg|CTGC
Acc marginally increased19315wt: 0.9728 / mu: 0.9783 (marginal change - not scored)wt: GTAGGGAGTTTTTCTCTTCAGGCTGCCAGTCACCTCCTGGG
mu: GTAGGGAGTTTTTCTCTTCAGGCTGCCAGCCACCTCCTGGG		 tcag|GCTG
Donor marginally increased19322wt: 0.9838 / mu: 0.9844 (marginal change - not scored)wt: CTGCCAGTCACCTCC
mu: CTGCCAGCCACCTCC		 GCCA|gtca
distance from splice site 248
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 190 / 190
chromosome 1
strand 1
last intron/exon boundary 3310
theoretical NMD boundary in CDS 3070
length of CDS 3102
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)		 19324
chromosomal position
(for ins/del: last normal base / first normal base)		 207646898
original gDNA sequence snippet TTTTCTCTTCAGGCTGCCAGTCACCTCCTGGGCTCCACCAT
altered gDNA sequence snippet TTTTCTCTTCAGGCTGCCAGCCACCTCCTGGGCTCCACCAT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MGAAGLLGVF LALVAPGVLG ISCGSPPPIL NGRISYYSTP IAVGTVIRYS CSGTFRLIGE
KSLLCITKDK VDGTWDKPAP KCEYFNKYSS CPEPIVPGGY KIRGSTPYRH GDSVTFACKT
NFSMNGNKSV WCQANNMWGP TRLPTCVSVF PLECPALPMI HNGHHTSENV GSIAPGLSVT
YSCESGYLLV GEKIINCLSS GKWSAVPPTC EEARCKSLGR FPNGKVKEPP ILRVGVTANF
FCDEGYRLQG PPSSRCVIAG QGVAWTKMPV CEEIFCPSPP PILNGRHIGN SLANVSYGSI
VTYTCDPDPE EGVNFILIGE STLRCTVDSQ KTGTWSGPAP RCELSTSAVQ CPHPQILRGR
MVSGQKDRYT YNDTVIFACM FGFTLKGSKQ IRCNAQGTWE PSAPVCEKEC QAPPNILNGQ
KEDRHMVRFD PGTSIKYSCN PGYVLVGEES IQCTSEGVWT PPVPQCKVAA CEATGRQLLT
KPQHQFVRPD VNSSCGEGYK LSGSVYQECQ GTIPWFMEIR LCKEITCPPP PVIYNGAHTG
SSLEDFPYGT TVTYTCNPGP ERGVEFSLIG ESTIRCTSND QERGTWSGPA PLCKLSLLAV
QCSHVHIANG YKISGKEAPY FYNDTVTFKC YSGFTLKGSS QIRCKADNTW DPEIPVCEKE
TCQHVRQSLQ ELPAGSRVEL VNTSCQDGYQ LTGHAYQMCQ DAENGIWFKK IPLCKVIHCH
PPPVIVNGKH TGMMAENFLY GNEVSYECDQ GFYLLGEKKL QCRSDSKGHG SWSGPSPQCL
RSPPVTRCPN PEVKHGYKLN KTHSAYSHND IVYVDCNPGF IMNGSRVIRC HTDNTWVPGV
PTCIKKAFIG CPPPPKTPNG NHTGGNIARF SPGMSILYSC DQGYLLVGEA LLLCTHEGTW
SQPAPHCKEV NCSSPADMDG IQKGLEPRKM YQYGAVVTLE CEDGYMLEGS PQSQCQSDHQ
WNPPLAVCRS RSLAPVLCGI AAGLILLTFL IVITLYVISK HRARNYYTDT SQKEAFHLEA
REVYSVDPYN PAS*
mutated AA sequence N/A
speed 1.04 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: 0.999999876517729 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:207646898T>CN/A show variant in all transcripts   IGV
HGNC symbol CR2
Ensembl transcript ID ENST00000367059
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.19324T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs4308977
databasehomozygous (C/C)heterozygousallele carriers
1000G2689141182
ExAC52712222527496
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3320.029
0.0340.01
(flanking)0.4120.009
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 increased19316wt: 0.4518 / mu: 0.5250 (marginal change - not scored)wt: TAGGGAGTTTTTCTCTTCAGGCTGCCAGTCACCTCCTGGGC
mu: TAGGGAGTTTTTCTCTTCAGGCTGCCAGCCACCTCCTGGGC		 cagg|CTGC
Acc marginally increased19315wt: 0.9728 / mu: 0.9783 (marginal change - not scored)wt: GTAGGGAGTTTTTCTCTTCAGGCTGCCAGTCACCTCCTGGG
mu: GTAGGGAGTTTTTCTCTTCAGGCTGCCAGCCACCTCCTGGG		 tcag|GCTG
Donor marginally increased19322wt: 0.9838 / mu: 0.9844 (marginal change - not scored)wt: CTGCCAGTCACCTCC
mu: CTGCCAGCCACCTCC		 GCCA|gtca
distance from splice site 248
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 190 / 190
chromosome 1
strand 1
last intron/exon boundary 3124
theoretical NMD boundary in CDS 2884
length of CDS 2916
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)		 19324
chromosomal position
(for ins/del: last normal base / first normal base)		 207646898
original gDNA sequence snippet TTTTCTCTTCAGGCTGCCAGTCACCTCCTGGGCTCCACCAT
altered gDNA sequence snippet TTTTCTCTTCAGGCTGCCAGCCACCTCCTGGGCTCCACCAT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MGAAGLLGVF LALVAPGVLG ISCGSPPPIL NGRISYYSTP IAVGTVIRYS CSGTFRLIGE
KSLLCITKDK VDGTWDKPAP KCEYFNKYSS CPEPIVPGGY KIRGSTPYRH GDSVTFACKT
NFSMNGNKSV WCQANNMWGP TRLPTCVSVF PLECPALPMI HNGHHTSENV GSIAPGLSVT
YSCESGYLLV GEKIINCLSS GKWSAVPPTC EEARCKSLGR FPNGKVKEPP ILRVGVTANF
FCDEGYRLQG PPSSRCVIAG QGVAWTKMPV CEEIFCPSPP PILNGRHIGN SLANVSYGSI
VTYTCDPDPE EGVNFILIGE STLRCTVDSQ KTGTWSGPAP RCELSTSAVQ CPHPQILRGR
MVSGQKDRYT YNDTVIFACM FGFTLKGSKQ IRCNAQGTWE PSAPVCEKEC QAPPNILNGQ
KEDRHMVRFD PGTSIKYSCN PGYVLVGEES IQCTSEGVWT PPVPQCKVAA CEATGRQLLT
KPQHQFVRPD VNSSCGEGYK LSGSVYQECQ GTIPWFMEIR LCKEITCPPP PVIYNGAHTG
SSLEDFPYGT TVTYTCNPGP ERGVEFSLIG ESTIRCTSND QERGTWSGPA PLCKLSLLAV
QCSHVHIANG YKISGKEAPY FYNDTVTFKC YSGFTLKGSS QIRCKADNTW DPEIPVCEKE
TCQHVRQSLQ ELPAGSRVEL VNTSCQDGYQ LTGHAYQMCQ DAENGIWFKK IPLCKVIHCH
PPPVIVNGKH TGMMAENFLY GNEVSYECDQ GFYLLGEKKL QCRSDSKGHG SWSGPSPQCL
RSPPVTRCPN PEVKHGYKLN KTHSAYSHND IVYVDCNPGF IMNGSRVIRC HTDNTWVPGV
PTCIKKEVNC SSPADMDGIQ KGLEPRKMYQ YGAVVTLECE DGYMLEGSPQ SQCQSDHQWN
PPLAVCRSRS LAPVLCGIAA GLILLTFLIV ITLYVISKHR ARNYYTDTSQ KEAFHLEARE
VYSVDPYNPA S*
mutated AA sequence N/A
speed 0.71 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: 0.999999876517729 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:207646898T>CN/A show variant in all transcripts   IGV
HGNC symbol CR2
Ensembl transcript ID ENST00000458541
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.19324T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs4308977
databasehomozygous (C/C)heterozygousallele carriers
1000G2689141182
ExAC52712222527496
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3320.029
0.0340.01
(flanking)0.4120.009
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 increased19316wt: 0.4518 / mu: 0.5250 (marginal change - not scored)wt: TAGGGAGTTTTTCTCTTCAGGCTGCCAGTCACCTCCTGGGC
mu: TAGGGAGTTTTTCTCTTCAGGCTGCCAGCCACCTCCTGGGC		 cagg|CTGC
Acc marginally increased19315wt: 0.9728 / mu: 0.9783 (marginal change - not scored)wt: GTAGGGAGTTTTTCTCTTCAGGCTGCCAGTCACCTCCTGGG
mu: GTAGGGAGTTTTTCTCTTCAGGCTGCCAGCCACCTCCTGGG		 tcag|GCTG
Donor marginally increased19322wt: 0.9838 / mu: 0.9844 (marginal change - not scored)wt: CTGCCAGTCACCTCC
mu: CTGCCAGCCACCTCC		 GCCA|gtca
distance from splice site 248
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 55 / 55
chromosome 1
strand 1
last intron/exon boundary 3094
theoretical NMD boundary in CDS 2989
length of CDS 3021
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)		 19324
chromosomal position
(for ins/del: last normal base / first normal base)		 207646898
original gDNA sequence snippet TTTTCTCTTCAGGCTGCCAGTCACCTCCTGGGCTCCACCAT
altered gDNA sequence snippet TTTTCTCTTCAGGCTGCCAGCCACCTCCTGGGCTCCACCAT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MGAAGLLGVF LALVAPGVLG ISCGSPPPIL NGRISYYSTP IAVGTVIRYS CSGTFRLIGE
KSLLCITKDK VDGTWDKPAP KCEYFNKYSS CPEPIVPGGY KIRGSTPYRH GDSVTFACKT
NFSMNGNKSV WCQANNMWGP TRLPTCVSVF PLECPALPMI HNGHHTSENV GSIAPGLSVT
YSCESGYLLV GEKIINCLSS GKWSAVPPTC EEARCKSLGR FPNGKVKEPP ILRVGVTANF
FCDEGYRLQG PPSSRCVIAG QGVAWTKMPV CEEIFCPSPP PILNGRHIGN SLANVSYGSI
VTYTCDPDPE EGVNFILIGE STLRCTVDSQ KTGTWSGPAP RCELSTSAVQ CPHPQILRGR
MVSGQKDRYT YNDTVIFACM FGFTLKGSKQ IRCNAQGTWE PSAPVCEKEC QAPPNILNGQ
KEDRHMVRFD PGTSIKYSCN PGYVLVGEES IQCTSEGVWT PPVPQCKVAA CEATGRQLLT
KPQHQFVRPD VNSSCGEGNH LPTTPCYLQW GTHREFLRRF SIWNHGHLHM PGPERGVEFS
LIGESTIRCT SNDQERGTWS GPAPLCKLSL LAVQCSHVHI ANGYKISGKE APYFYNDTVT
FKCYSGFTLK GSSQIRCKAD NTWDPEIPVC EKETCQHVRQ SLQELPAGSR VELVNTSCQD
GYQLTGHAYQ MCQDAENGIW FKKIPLCKVI HCHPPPVIVN GKHTGMMAEN FLYGNEVSYE
CDQGFYLLGE KKLQCRSDSK GHGSWSGPSP QCLRSPPVTR CPNPEVKHGY KLNKTHSAYS
HNDIVYVDCN PGFIMNGSRV IRCHTDNTWV PGVPTCIKKA FIGCPPPPKT PNGNHTGGNI
ARFSPGMSIL YSCDQGYLLV GEALLLCTHE GTWSQPAPHC KEVNCSSPAD MDGIQKGLEP
RKMYQYGAVV TLECEDGYML EGSPQSQCQS DHQWNPPLAV CRSRSLAPVL CGIAAGLILL
TFLIVITLYV ISKHRARNYY TDTSQKEAFH LEAREVYSVD PYNPAS*
mutated AA sequence N/A
speed 0.89 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