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: ENST00000455752
Querying Taster for transcript #2: ENST00000539605
Querying Taster for transcript #3: ENST00000357997
Querying Taster for transcript #4: ENST00000542282
Querying Taster for transcript #5: ENST00000542657
MT speed 0 s - this script 5.876835 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ANKLE2polymorphism_automatic1.73971947958762e-13simple_aaeaffectedR658Hsingle base exchangers10781634show file
ANKLE2polymorphism_automatic1.73971947958762e-13simple_aaeaffectedR720Hsingle base exchangers10781634show file
ANKLE2polymorphism_automatic2.88991053309928e-13simple_aaeaffectedR75Hsingle base exchangers10781634show file
ANKLE2polymorphism_automatic2.88991053309928e-13simple_aaeaffectedR75Hsingle base exchangers10781634show file
POLEpolymorphism_automatic9.76041799605198e-08without_aaeaffectedsingle base exchangers10781634show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999826 (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) chr12:133306589C>TN/A show variant in all transcripts   IGV
HGNC symbol ANKLE2
Ensembl transcript ID ENST00000539605
Genbank transcript ID N/A
UniProt peptide Q86XL3
alteration type single base exchange
alteration region CDS
DNA changes c.1973G>A
cDNA.8658G>A
g.31886G>A
AA changes R658H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 658
frameshift no
known variant Reference ID: rs10781634
databasehomozygous (T/T)heterozygousallele carriers
1000G2028341036
ExAC76261751525141
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6140
0.2240
(flanking)-3.040
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased31888wt: 0.24 / mu: 0.64wt: CCCGTGGGGAGGAAG
mu: CCCATGGGGAGGAAG		 CGTG|ggga
Donor marginally increased31887wt: 0.9115 / mu: 0.9755 (marginal change - not scored)wt: CCCCGTGGGGAGGAA
mu: CCCCATGGGGAGGAA		 CCGT|gggg
Donor increased31891wt: 0.64 / mu: 0.74wt: GTGGGGAGGAAGCCC
mu: ATGGGGAGGAAGCCC		 GGGG|agga
distance from splice site 268
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      658RTLAGKRPKAPRGEEAHLPPVSDL
mutated  not conserved    658RTLAGKRPKAPHGE
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000015467  92RTLVGKRPKAPRGEEAHLPPVSD
Fcatus  not conserved  ENSFCAG00000002504  624QTLGRRRTEAPHGEEALLSPVPG
Mmusculus  not conserved  ENSMUSG00000029501  732ADGRGLEATNGEEALPPPVSV
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000013275  686RTHNGEKMGPRSP-ASSTMLSPVSN
Drerio  not conserved  ENSDARG00000035607  666RTPNGDK-VSPRICGSSNSCMLSPISN
Dmelanogaster  no alignment  FBgn0028343  n/a
Celegans  no alignment  Y55F3BR.8  n/a
Xtropicalis  not conserved  ENSXETG00000023848  657QYLPGE-SRHKGVHEGMLSPVSN
protein features
start (aa)end (aa)featuredetails 
33938TOPO_DOMCytoplasmic (Potential).lost
662662CONFLICTS -> I (in Ref. 1; BAG52720).might get lost (downstream of altered splice site)
662662MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
680680CONFLICTE -> K (in Ref. 1; BAG52720).might get lost (downstream of altered splice site)
863863CONFLICTL -> P (in Ref. 1; BAG51259).might get lost (downstream of altered splice site)
891891CONFLICTG -> A (in Ref. 1; BAG52720).might get lost (downstream of altered splice site)
896896MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
914914MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
919919MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2631 / 2631
position (AA) of stopcodon in wt / mu AA sequence 877 / 877
position of stopcodon in wt / mu cDNA 9316 / 9316
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 6686 / 6686
chromosome 12
strand -1
last intron/exon boundary 9115
theoretical NMD boundary in CDS 2379
length of CDS 2631
coding sequence (CDS) position 1973
cDNA position
(for ins/del: last normal base / first normal base)		 8658
gDNA position
(for ins/del: last normal base / first normal base)		 31886
chromosomal position
(for ins/del: last normal base / first normal base)		 133306589
original gDNA sequence snippet CAAGAGACCAAAGGCCCCCCGTGGGGAGGAAGCCCATCTGC
altered gDNA sequence snippet CAAGAGACCAAAGGCCCCCCATGGGGAGGAAGCCCATCTGC
original cDNA sequence snippet CAAGAGACCAAAGGCCCCCCGTGGGGAGGAAGCCCATCTGC
altered cDNA sequence snippet CAAGAGACCAAAGGCCCCCCATGGGGAGGAAGCCCATCTGC
wildtype AA sequence MTMDALLARL KLLNPDDLRE EIVKAGLKCG PITSTTRFIF EKKLAQALLE QGGRLSSFYH
HEAGVTALSQ DPQRILKPAE GNPTDQAGFS EDRDFGYSVG LNPPEEEAVT SKTCSVPPSD
TDTYRAGATA SKEPPLYYGV CPVYEDVPAR NERIYVYENK KEALQAVKMI KGSRFKAFST
REDAEKFARG ICDYFPSPSK TSLPLSPVKT APLFSNDRLK DGLCLSESET VNKERANSYK
NPRTQDLTAK LRKAVEKGEE DTFSDLIWSN PRYLIGSGDN PTIVQEGCRY NVMHVAAKEN
QASICQLTLD VLENPDFMRL MYPDDDEAML QKRIRYVVDL YLNTPDKMGY DTPLHFACKF
GNADVVNVLS SHHLIVKNSR NKYDKTPEDV ICERSKNKSV ELKERIREYL KGHYYVPLLR
AEETSSPVIG ELWSPDQTAE ASHVSRYGGS PRDPVLTLRA FAGPLSPAKA EDFRKLWKTP
PREKAGFLHH VKKSDPERGF ERVGRELAHE LGYPWVEYWE FLGCFVDLSS QEGLQRLEEY
LTQQEIGKKA QQETGEREAS CRDKATTSGS NSISVRAFLD EDDMSLEEIK NRQNAARNNS
PPTVGAFGHT RCSAFPLEQE ADLIEAAEPG GPHSSRNGLC HPLNHSRTLA GKRPKAPRGE
EAHLPPVSDL TVEFDKLNLQ NIGRSVSKTP DESTKTKDQI LTSRINAVER DLLEPSPADQ
LGNGHRRTES EMSARIAKMS LSPSSPRHED QLEVTREPAR RLFLFGEEPS KLDQDVLAAL
ECADVDPHQF PAVHRWKSAV LCYSPSDRQS WPSPAVKGRF KSQLPDLSGP HSYSPGRNSV
AGSNPAKPGL GSPGRYSPVH GSQLRRMARL AELAAL*
mutated AA sequence MTMDALLARL KLLNPDDLRE EIVKAGLKCG PITSTTRFIF EKKLAQALLE QGGRLSSFYH
HEAGVTALSQ DPQRILKPAE GNPTDQAGFS EDRDFGYSVG LNPPEEEAVT SKTCSVPPSD
TDTYRAGATA SKEPPLYYGV CPVYEDVPAR NERIYVYENK KEALQAVKMI KGSRFKAFST
REDAEKFARG ICDYFPSPSK TSLPLSPVKT APLFSNDRLK DGLCLSESET VNKERANSYK
NPRTQDLTAK LRKAVEKGEE DTFSDLIWSN PRYLIGSGDN PTIVQEGCRY NVMHVAAKEN
QASICQLTLD VLENPDFMRL MYPDDDEAML QKRIRYVVDL YLNTPDKMGY DTPLHFACKF
GNADVVNVLS SHHLIVKNSR NKYDKTPEDV ICERSKNKSV ELKERIREYL KGHYYVPLLR
AEETSSPVIG ELWSPDQTAE ASHVSRYGGS PRDPVLTLRA FAGPLSPAKA EDFRKLWKTP
PREKAGFLHH VKKSDPERGF ERVGRELAHE LGYPWVEYWE FLGCFVDLSS QEGLQRLEEY
LTQQEIGKKA QQETGEREAS CRDKATTSGS NSISVRAFLD EDDMSLEEIK NRQNAARNNS
PPTVGAFGHT RCSAFPLEQE ADLIEAAEPG GPHSSRNGLC HPLNHSRTLA GKRPKAPHGE
EAHLPPVSDL TVEFDKLNLQ NIGRSVSKTP DESTKTKDQI LTSRINAVER DLLEPSPADQ
LGNGHRRTES EMSARIAKMS LSPSSPRHED QLEVTREPAR RLFLFGEEPS KLDQDVLAAL
ECADVDPHQF PAVHRWKSAV LCYSPSDRQS WPSPAVKGRF KSQLPDLSGP HSYSPGRNSV
AGSNPAKPGL GSPGRYSPVH GSQLRRMARL AELAAL*
speed 0.41 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: 0.999999999999826 (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) chr12:133306589C>TN/A show variant in all transcripts   IGV
HGNC symbol ANKLE2
Ensembl transcript ID ENST00000357997
Genbank transcript ID NM_015114
UniProt peptide Q86XL3
alteration type single base exchange
alteration region CDS
DNA changes c.2159G>A
cDNA.2249G>A
g.31886G>A
AA changes R720H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 720
frameshift no
known variant Reference ID: rs10781634
databasehomozygous (T/T)heterozygousallele carriers
1000G2028341036
ExAC76261751525141
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6140
0.2240
(flanking)-3.040
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased31888wt: 0.24 / mu: 0.64wt: CCCGTGGGGAGGAAG
mu: CCCATGGGGAGGAAG		 CGTG|ggga
Donor marginally increased31887wt: 0.9115 / mu: 0.9755 (marginal change - not scored)wt: CCCCGTGGGGAGGAA
mu: CCCCATGGGGAGGAA		 CCGT|gggg
Donor increased31891wt: 0.64 / mu: 0.74wt: GTGGGGAGGAAGCCC
mu: ATGGGGAGGAAGCCC		 GGGG|agga
distance from splice site 268
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      720RTLAGKRPKAPRGEEAHLPPVSDL
mutated  not conserved    720RTLAGKRPKAPHGEEAHLPPVSD
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000015467  92RTLVGKRPKAPRGEEAHLPPVSD
Fcatus  not conserved  ENSFCAG00000002504  624QTLGRRRTEAPHGEEALLSPVPG
Mmusculus  not conserved  ENSMUSG00000029501  733RTADGRGLEATNGEEALPPPVSV
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000013275  686RTHNGEKMGPRSP-ASSTMLSPVSN
Drerio  not conserved  ENSDARG00000035607  666RTPNGDK-VSPRICGSSNSCMLSPISN
Dmelanogaster  no alignment  FBgn0028343  n/a
Celegans  no alignment  Y55F3BR.8  n/a
Xtropicalis  not conserved  ENSXETG00000023848  657QYLPGE-SRHKGVHEGMLSPVSN
protein features
start (aa)end (aa)featuredetails 
33938TOPO_DOMCytoplasmic (Potential).lost
863863CONFLICTL -> P (in Ref. 1; BAG51259).might get lost (downstream of altered splice site)
891891CONFLICTG -> A (in Ref. 1; BAG52720).might get lost (downstream of altered splice site)
896896MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
914914MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
919919MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2817 / 2817
position (AA) of stopcodon in wt / mu AA sequence 939 / 939
position of stopcodon in wt / mu cDNA 2907 / 2907
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 91 / 91
chromosome 12
strand -1
last intron/exon boundary 2706
theoretical NMD boundary in CDS 2565
length of CDS 2817
coding sequence (CDS) position 2159
cDNA position
(for ins/del: last normal base / first normal base)		 2249
gDNA position
(for ins/del: last normal base / first normal base)		 31886
chromosomal position
(for ins/del: last normal base / first normal base)		 133306589
original gDNA sequence snippet CAAGAGACCAAAGGCCCCCCGTGGGGAGGAAGCCCATCTGC
altered gDNA sequence snippet CAAGAGACCAAAGGCCCCCCATGGGGAGGAAGCCCATCTGC
original cDNA sequence snippet CAAGAGACCAAAGGCCCCCCGTGGGGAGGAAGCCCATCTGC
altered cDNA sequence snippet CAAGAGACCAAAGGCCCCCCATGGGGAGGAAGCCCATCTGC
wildtype AA sequence MLWPRLAAAE WAALAWELLG ASVLLIAVRW LVRRLGPRPG GLGRSGTPVP PPSAAAAPAS
GEMTMDALLA RLKLLNPDDL REEIVKAGLK CGPITSTTRF IFEKKLAQAL LEQGGRLSSF
YHHEAGVTAL SQDPQRILKP AEGNPTDQAG FSEDRDFGYS VGLNPPEEEA VTSKTCSVPP
SDTDTYRAGA TASKEPPLYY GVCPVYEDVP ARNERIYVYE NKKEALQAVK MIKGSRFKAF
STREDAEKFA RGICDYFPSP SKTSLPLSPV KTAPLFSNDR LKDGLCLSES ETVNKERANS
YKNPRTQDLT AKLRKAVEKG EEDTFSDLIW SNPRYLIGSG DNPTIVQEGC RYNVMHVAAK
ENQASICQLT LDVLENPDFM RLMYPDDDEA MLQKRIRYVV DLYLNTPDKM GYDTPLHFAC
KFGNADVVNV LSSHHLIVKN SRNKYDKTPE DVICERSKNK SVELKERIRE YLKGHYYVPL
LRAEETSSPV IGELWSPDQT AEASHVSRYG GSPRDPVLTL RAFAGPLSPA KAEDFRKLWK
TPPREKAGFL HHVKKSDPER GFERVGRELA HELGYPWVEY WEFLGCFVDL SSQEGLQRLE
EYLTQQEIGK KAQQETGERE ASCRDKATTS GSNSISVRAF LDEDDMSLEE IKNRQNAARN
NSPPTVGAFG HTRCSAFPLE QEADLIEAAE PGGPHSSRNG LCHPLNHSRT LAGKRPKAPR
GEEAHLPPVS DLTVEFDKLN LQNIGRSVSK TPDESTKTKD QILTSRINAV ERDLLEPSPA
DQLGNGHRRT ESEMSARIAK MSLSPSSPRH EDQLEVTREP ARRLFLFGEE PSKLDQDVLA
ALECADVDPH QFPAVHRWKS AVLCYSPSDR QSWPSPAVKG RFKSQLPDLS GPHSYSPGRN
SVAGSNPAKP GLGSPGRYSP VHGSQLRRMA RLAELAAL*
mutated AA sequence MLWPRLAAAE WAALAWELLG ASVLLIAVRW LVRRLGPRPG GLGRSGTPVP PPSAAAAPAS
GEMTMDALLA RLKLLNPDDL REEIVKAGLK CGPITSTTRF IFEKKLAQAL LEQGGRLSSF
YHHEAGVTAL SQDPQRILKP AEGNPTDQAG FSEDRDFGYS VGLNPPEEEA VTSKTCSVPP
SDTDTYRAGA TASKEPPLYY GVCPVYEDVP ARNERIYVYE NKKEALQAVK MIKGSRFKAF
STREDAEKFA RGICDYFPSP SKTSLPLSPV KTAPLFSNDR LKDGLCLSES ETVNKERANS
YKNPRTQDLT AKLRKAVEKG EEDTFSDLIW SNPRYLIGSG DNPTIVQEGC RYNVMHVAAK
ENQASICQLT LDVLENPDFM RLMYPDDDEA MLQKRIRYVV DLYLNTPDKM GYDTPLHFAC
KFGNADVVNV LSSHHLIVKN SRNKYDKTPE DVICERSKNK SVELKERIRE YLKGHYYVPL
LRAEETSSPV IGELWSPDQT AEASHVSRYG GSPRDPVLTL RAFAGPLSPA KAEDFRKLWK
TPPREKAGFL HHVKKSDPER GFERVGRELA HELGYPWVEY WEFLGCFVDL SSQEGLQRLE
EYLTQQEIGK KAQQETGERE ASCRDKATTS GSNSISVRAF LDEDDMSLEE IKNRQNAARN
NSPPTVGAFG HTRCSAFPLE QEADLIEAAE PGGPHSSRNG LCHPLNHSRT LAGKRPKAPH
GEEAHLPPVS DLTVEFDKLN LQNIGRSVSK TPDESTKTKD QILTSRINAV ERDLLEPSPA
DQLGNGHRRT ESEMSARIAK MSLSPSSPRH EDQLEVTREP ARRLFLFGEE PSKLDQDVLA
ALECADVDPH QFPAVHRWKS AVLCYSPSDR QSWPSPAVKG RFKSQLPDLS GPHSYSPGRN
SVAGSNPAKP GLGSPGRYSP VHGSQLRRMA RLAELAAL*
speed 1.33 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: 0.999999999999711 (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) chr12:133306589C>TN/A show variant in all transcripts   IGV
HGNC symbol ANKLE2
Ensembl transcript ID ENST00000542282
Genbank transcript ID N/A
UniProt peptide Q86XL3
alteration type single base exchange
alteration region CDS
DNA changes c.224G>A
cDNA.2208G>A
g.31886G>A
AA changes R75H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 75
frameshift no
known variant Reference ID: rs10781634
databasehomozygous (T/T)heterozygousallele carriers
1000G2028341036
ExAC76261751525141
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6140
0.2240
(flanking)-3.040
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased31888wt: 0.24 / mu: 0.64wt: CCCGTGGGGAGGAAG
mu: CCCATGGGGAGGAAG		 CGTG|ggga
Donor marginally increased31887wt: 0.9115 / mu: 0.9755 (marginal change - not scored)wt: CCCCGTGGGGAGGAA
mu: CCCCATGGGGAGGAA		 CCGT|gggg
Donor increased31891wt: 0.64 / mu: 0.74wt: GTGGGGAGGAAGCCC
mu: ATGGGGAGGAAGCCC		 GGGG|agga
distance from splice site 325
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      75RTLAGKRPKAPRGEEAHLPPVSDL
mutated  not conserved    75RTLAGKRPKAPHGEEAHLPPVSD
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000015467  92RTLVGKRPKAPRGEEAHLPPVSD
Fcatus  not conserved  ENSFCAG00000002504  624QTLGRRRTEAPHGEEALLSPVPG
Mmusculus  not conserved  ENSMUSG00000029501  733RTADGRGLEATNGEEALPPPVSV
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000013275  679RTHNGEKMGPRSP-ASSTMLSPVSN
Drerio  not conserved  ENSDARG00000035607  666RTPNGDKV-SPRICGSSNSCMLSPISN
Dmelanogaster  no alignment  FBgn0028343  n/a
Celegans  no alignment  Y55F3BR.8  n/a
Xtropicalis  not conserved  ENSXETG00000023848  657QYLPGES-RHKGVHEGMLSPVSN
protein features
start (aa)end (aa)featuredetails 
33938TOPO_DOMCytoplasmic (Potential).lost
69113DOMAINLEM.lost
259259MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
266266CONFLICTP -> Q (in Ref. 3; AAH43157).might get lost (downstream of altered splice site)
268268MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
411440REPEATANK.might get lost (downstream of altered splice site)
481481CONFLICTL -> V (in Ref. 3; AAH43157).might get lost (downstream of altered splice site)
487487MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
488488MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
496496MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
512512MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
528528MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
647647CONFLICTS -> N (in Ref. 3; AAH43157).might get lost (downstream of altered splice site)
662662MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
662662CONFLICTS -> I (in Ref. 1; BAG52720).might get lost (downstream of altered splice site)
680680CONFLICTE -> K (in Ref. 1; BAG52720).might get lost (downstream of altered splice site)
863863CONFLICTL -> P (in Ref. 1; BAG51259).might get lost (downstream of altered splice site)
891891CONFLICTG -> A (in Ref. 1; BAG52720).might get lost (downstream of altered splice site)
896896MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
914914MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
919919MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 882 / 882
position (AA) of stopcodon in wt / mu AA sequence 294 / 294
position of stopcodon in wt / mu cDNA 2866 / 2866
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 1985 / 1985
chromosome 12
strand -1
last intron/exon boundary 2665
theoretical NMD boundary in CDS 630
length of CDS 882
coding sequence (CDS) position 224
cDNA position
(for ins/del: last normal base / first normal base)		 2208
gDNA position
(for ins/del: last normal base / first normal base)		 31886
chromosomal position
(for ins/del: last normal base / first normal base)		 133306589
original gDNA sequence snippet CAAGAGACCAAAGGCCCCCCGTGGGGAGGAAGCCCATCTGC
altered gDNA sequence snippet CAAGAGACCAAAGGCCCCCCATGGGGAGGAAGCCCATCTGC
original cDNA sequence snippet CAAGAGACCAAAGGCCCCCCGTGGGGAGGAAGCCCATCTGC
altered cDNA sequence snippet CAAGAGACCAAAGGCCCCCCATGGGGAGGAAGCCCATCTGC
wildtype AA sequence MSLEEIKNRQ NAARNNSPPT VGAFGHTRCS AFPLEQEADL IEAAEPGGPH SSRNGLCHPL
NHSRTLAGKR PKAPRGEEAH LPPVSDLTVE FDKLNLQNIG RSVSKTPDES TKTKDQILTS
RINAVERDLL EPSPADQLGN GHRRTESEMS ARIAKMSLSP SSPRHEDQLE VTREPARRLF
LFGEEPSKLD QDVLAALECA DVDPHQFPAV HRWKSAVLCY SPSDRQSWPS PAVKGRFKSQ
LPDLSGPHSY SPGRNSVAGS NPAKPGLGSP GRYSPVHGSQ LRRMARLAEL AAL*
mutated AA sequence MSLEEIKNRQ NAARNNSPPT VGAFGHTRCS AFPLEQEADL IEAAEPGGPH SSRNGLCHPL
NHSRTLAGKR PKAPHGEEAH LPPVSDLTVE FDKLNLQNIG RSVSKTPDES TKTKDQILTS
RINAVERDLL EPSPADQLGN GHRRTESEMS ARIAKMSLSP SSPRHEDQLE VTREPARRLF
LFGEEPSKLD QDVLAALECA DVDPHQFPAV HRWKSAVLCY SPSDRQSWPS PAVKGRFKSQ
LPDLSGPHSY SPGRNSVAGS NPAKPGLGSP GRYSPVHGSQ LRRMARLAEL AAL*
speed 0.39 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999711 (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) chr12:133306589C>TN/A show variant in all transcripts   IGV
HGNC symbol ANKLE2
Ensembl transcript ID ENST00000542657
Genbank transcript ID N/A
UniProt peptide Q86XL3
alteration type single base exchange
alteration region CDS
DNA changes c.224G>A
cDNA.1679G>A
g.31886G>A
AA changes R75H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 75
frameshift no
known variant Reference ID: rs10781634
databasehomozygous (T/T)heterozygousallele carriers
1000G2028341036
ExAC76261751525141
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6140
0.2240
(flanking)-3.040
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased31888wt: 0.24 / mu: 0.64wt: CCCGTGGGGAGGAAG
mu: CCCATGGGGAGGAAG		 CGTG|ggga
Donor marginally increased31887wt: 0.9115 / mu: 0.9755 (marginal change - not scored)wt: CCCCGTGGGGAGGAA
mu: CCCCATGGGGAGGAA		 CCGT|gggg
Donor increased31891wt: 0.64 / mu: 0.74wt: GTGGGGAGGAAGCCC
mu: ATGGGGAGGAAGCCC		 GGGG|agga
distance from splice site 268
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      75RTLAGKRPKAPRGEEAHLPPVSDL
mutated  not conserved    75RTLAGKRPKAPHGEEAHLPPVSD
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000015467  92RTLVGKRPKAPRGEEAHLPPVSD
Fcatus  not conserved  ENSFCAG00000002504  624QTLGRRRTEAPHGEEALLSPVPG
Mmusculus  not conserved  ENSMUSG00000029501  733RTADGRGLEATNGEEALPPPVSV
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000013275  679RTHNGEKMGPRSP-ASSTMLSPVSN
Drerio  not conserved  ENSDARG00000035607  666RTPNGDKV-SPRICGSSNSCMLSPISN
Dmelanogaster  no alignment  FBgn0028343  n/a
Celegans  no alignment  Y55F3BR.8  n/a
Xtropicalis  not conserved  ENSXETG00000023848  657QYLPGES-RHKGVHEGMLSPVSN
protein features
start (aa)end (aa)featuredetails 
33938TOPO_DOMCytoplasmic (Potential).lost
69113DOMAINLEM.lost
259259MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
266266CONFLICTP -> Q (in Ref. 3; AAH43157).might get lost (downstream of altered splice site)
268268MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
411440REPEATANK.might get lost (downstream of altered splice site)
481481CONFLICTL -> V (in Ref. 3; AAH43157).might get lost (downstream of altered splice site)
487487MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
488488MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
496496MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
512512MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
528528MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
647647CONFLICTS -> N (in Ref. 3; AAH43157).might get lost (downstream of altered splice site)
662662MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
662662CONFLICTS -> I (in Ref. 1; BAG52720).might get lost (downstream of altered splice site)
680680CONFLICTE -> K (in Ref. 1; BAG52720).might get lost (downstream of altered splice site)
863863CONFLICTL -> P (in Ref. 1; BAG51259).might get lost (downstream of altered splice site)
891891CONFLICTG -> A (in Ref. 1; BAG52720).might get lost (downstream of altered splice site)
896896MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
914914MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
919919MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 882 / 882
position (AA) of stopcodon in wt / mu AA sequence 294 / 294
position of stopcodon in wt / mu cDNA 2337 / 2337
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 1456 / 1456
chromosome 12
strand -1
last intron/exon boundary 2136
theoretical NMD boundary in CDS 630
length of CDS 882
coding sequence (CDS) position 224
cDNA position
(for ins/del: last normal base / first normal base)		 1679
gDNA position
(for ins/del: last normal base / first normal base)		 31886
chromosomal position
(for ins/del: last normal base / first normal base)		 133306589
original gDNA sequence snippet CAAGAGACCAAAGGCCCCCCGTGGGGAGGAAGCCCATCTGC
altered gDNA sequence snippet CAAGAGACCAAAGGCCCCCCATGGGGAGGAAGCCCATCTGC
original cDNA sequence snippet CAAGAGACCAAAGGCCCCCCGTGGGGAGGAAGCCCATCTGC
altered cDNA sequence snippet CAAGAGACCAAAGGCCCCCCATGGGGAGGAAGCCCATCTGC
wildtype AA sequence MSLEEIKNRQ NAARNNSPPT VGAFGHTRCS AFPLEQEADL IEAAEPGGPH SSRNGLCHPL
NHSRTLAGKR PKAPRGEEAH LPPVSDLTVE FDKLNLQNIG RSVSKTPDES TKTKDQILTS
RINAVERDLL EPSPADQLGN GHRRTESEMS ARIAKMSLSP SSPRHEDQLE VTREPARRLF
LFGEEPSKLD QDVLAALECA DVDPHQFPAV HRWKSAVLCY SPSDRQSWPS PAVKGRFKSQ
LPDLSGPHSY SPGRNSVAGS NPAKPGLGSP GRYSPVHGSQ LRRMARLAEL AAL*
mutated AA sequence MSLEEIKNRQ NAARNNSPPT VGAFGHTRCS AFPLEQEADL IEAAEPGGPH SSRNGLCHPL
NHSRTLAGKR PKAPHGEEAH LPPVSDLTVE FDKLNLQNIG RSVSKTPDES TKTKDQILTS
RINAVERDLL EPSPADQLGN GHRRTESEMS ARIAKMSLSP SSPRHEDQLE VTREPARRLF
LFGEEPSKLD QDVLAALECA DVDPHQFPAV HRWKSAVLCY SPSDRQSWPS PAVKGRFKSQ
LPDLSGPHSY SPGRNSVAGS NPAKPGLGSP GRYSPVHGSQ LRRMARLAEL AAL*
speed 1.40 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.99999990239582 (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) chr12:133306589C>TN/A show variant in all transcripts   IGV
HGNC symbol POLE
Ensembl transcript ID ENST00000455752
Genbank transcript ID N/A
UniProt peptide Q07864
alteration type single base exchange
alteration region intron
DNA changes g.106799G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs10781634
databasehomozygous (T/T)heterozygousallele carriers
1000G2028341036
ExAC76261751525141
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6140
0.2240
(flanking)-3.040
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased106804wt: 0.64 / mu: 0.74wt: GTGGGGAGGAAGCCC
mu: ATGGGGAGGAAGCCC		 GGGG|agga
Donor increased106801wt: 0.24 / mu: 0.64wt: CCCGTGGGGAGGAAG
mu: CCCATGGGGAGGAAG		 CGTG|ggga
Donor marginally increased106800wt: 0.9115 / mu: 0.9755 (marginal change - not scored)wt: CCCCGTGGGGAGGAA
mu: CCCCATGGGGAGGAA		 CCGT|gggg
distance from splice site 48724
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
19401940MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
21582158METALZinc (By similarity).might get lost (downstream of altered splice site)
21582190ZN_FINGCysA-type.might get lost (downstream of altered splice site)
21612161METALZinc (By similarity).might get lost (downstream of altered splice site)
21872187METALZinc (By similarity).might get lost (downstream of altered splice site)
21902190METALZinc (By similarity).might get lost (downstream of altered splice site)
22212221METALIron-sulfur (4Fe-4S) (By similarity).might get lost (downstream of altered splice site)
22212238MOTIFCysB motif.might get lost (downstream of altered splice site)
22242224METALIron-sulfur (4Fe-4S) (By similarity).might get lost (downstream of altered splice site)
22362236METALIron-sulfur (4Fe-4S) (By similarity).might get lost (downstream of altered splice site)
22372237CONFLICTS -> T (in Ref. 1; AAA15448/AAC19148).might get lost (downstream of altered splice site)
22382238METALIron-sulfur (4Fe-4S) (By similarity).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 12
strand -1
last intron/exon boundary 6781
theoretical NMD boundary in CDS 6730
length of CDS 6894
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)		 106799
chromosomal position
(for ins/del: last normal base / first normal base)		 133306589
original gDNA sequence snippet CAAGAGACCAAAGGCCCCCCGTGGGGAGGAAGCCCATCTGC
altered gDNA sequence snippet CAAGAGACCAAAGGCCCCCCATGGGGAGGAAGCCCATCTGC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MSRPLGLKSF PRHKQAPLPL SLTFHGCLLL RRDDGATSSV SALKRLERSQ WTDKMDLRFG
FERLKEPGEK TGWLINMHPT EILDEDKRLG SAVDYYFIQD DGSRFKVALP YKPYFYIATR
KGCEREVSSF LSKKFQGKIA KVETVPKEDL DLPNHLVGLK RNYIRLSFHT VEDLVKVRKE
ISPAVKKNRE QDHASDAYTA LLSSVLQRGG VITDEEETSK KIADQLDNIV DMREYDVPYH
IRLSIDLKIH VAHWYNVRYR GNAFPVEITR RDDLVERPDP VVLAFDIETT KLPLKFPDAE
TDQIMMISYM IDGQGYLITN REIVSEDIED FEFTPKPEYE GPFCVFNEPD EAHLIQRWFE
HVQETKPTIM VTYNGDFFDW PFVEARAAVH GLSMQQEIGF QKDSQGEYKA PQCIHMDCLR
WVKRDSYLPV GSHNLKAAAK AKLGYDPVEL DPEDMCRMAT EQPQTLATYS VSDAVATYYL
YMKYVHPFIF ALCTIIPMEP DEVLRKGSGT LCEALLMVQA FHANIIFPNK QEQEFNKLTD
DGHVLDSETY VGGHVEALES GVFRSDIPCR FRMNPAAFDF LLQRVEKTLR HALEEEEKVP
VEQVTNFEEV CDEIKSKLAS LKDVPSRIEC PLIYHLDVGA MYPNIILTNR LQPSAMVDEA
TCAACDFNKP GANCQRKMAW QWRGEFMPAS RSEYHRIQHQ LESEKFPPLF PEGPARAFHE
LSREEQAKYE KRRLADYCRK AYKKIHITKV EERLTTICQR ENSFYVDTVR AFRDRRYEFK
GLHKVWKKKL SAAVEVGDAA EVKRCKNMEV LYDSLQLAHK CILNSFYGYV MRKGARWYSM
EMAGIVCFTG ANIITQAREL IEQIGRPLEL DTDGIWCVLP NSFPENFVFK TTNVKKPKVT
ISYPGAMLNI MVKEGFTNDQ YQELAEPSSL TYVTRSENSI FFEVDGPYLA MILPASKEEG
KKLKKRYAVF NEDGSLAELK GFEVKRRGEL QLIKIFQSSV FEAFLKGSTL EEVYGSVAKV
ADYWLDVLYS KAANMPDSEL FELISENRSM SRKLEDYGEQ KSTSISTAKR LAEFLGDQMV
KDAGLSCRYI ISRKPEGSPV TERAIPLAIF QAEPTVRKHF LRKWLKSSSL QDFDIRAILD
WDYYIERLGS AIQKIITIPA ALQQVKNPVP RVKHPDWLHK KLLEKNDVYK QKKISELFTL
EGRRQVTMAE ASEDSPRPSA PDMEDFGLVK LPHPAAPVTV KRKRVLWESQ EESQDLTPTV
PWQEILGQPP ALGTSQEEWL VWLRFHKKKW QLQARQRLAR RKRQRLESAE GVLRPGAIRD
GPATGLGSFL RRTARSILDL PWQIVQISET SQAGLFRLWA LVGSDLHCIR LSIPRVFYVN
QRVAKAEEGA SYRKVNRVLP RSNMVYNLYE YSVPEDMYQE HINEINAELS APDIEGVYET
QVPLLFRALV HLGCVCVVNK QLVRHLSGWE AETFALEHLE MRSLAQFSYL EPGSIRHIYL
YHHAQAHKAL FGIFIPSQRR ASVFVLDTVR SNQMPSLGAL YSAEHGLLLE KVGPELLPPP
KHTFEVRAET DLKTICRAIQ RFLLAYKEER RGPTLIAVQS SWELKRLASE IPVLEEFPLV
PICVADKINY GVLDWQRHGA RRMIRHYLNL DTCLSQAFEM SRYFHIPIGN LPEDISTFGS
DLFFARHLQR HNHLLWLSPT ARPDLGGKEA DDNCLVMEFD DQATVEINSS GCYSTVCVEL
DLQNLAVNTI LQSHHVNDME GADSMGISFD VIQQASLEDM ITGGQAASAP ASYDETALCS
NTFRILKSMV VGWVKEITQY HNIYADNQVM HFYRWLRSPS SLLHDPALHR TLHNMMKKLF
LQLIAEFKRL GSSVIYANFN RIILCTKKRR VEDAIAYVEY ITSSIHSKET FHSLTISFSR
CWEFLLWMDP SNYGGIKGKV SSRIHCGLQD SQKAGGAEDE QENEDDEEER DGEEEEEAEE
SNVEDLLENN WNILQFLPQA ASCQNYFLMI VSAYIVAVYH CMKDGLRRSA PGSTPVRRRG
ASQLSQEAEG AVGALPGMIT FSQDYVANEL TQSFFTITQK IQKKVTGSRN STELSEMFPV
LPGSHLLLNN PALEFIKYVC KVLSLDTNIT NQVNKLNRDL LRLVDVGEFS EEAQFRDPCR
SYVLPEVICR SCNFCRDLDL CKDSSFSEDG AVLPQWLCSN CQAPYDSSAI EMTLVEVLQK
KLMAFTLQDL VCLKCRGVKE TSMPVYCSCA GDFALTIHTQ VFMEQIGIFR NIAQHYGMSY
LLETLEWLLQ KNPQLGH*
mutated AA sequence N/A
speed 1.07 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