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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000506722
Querying Taster for transcript #2: ENST00000394537
Querying Taster for transcript #3: ENST00000357077
Querying Taster for transcript #4: ENST00000264366
Querying Taster for transcript #5: ENST00000509550
Querying Taster for transcript #6: ENST00000510275
MT speed 6.9 s - this script 8.007633 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ANK2polymorphism8.26161894451616e-09simple_aaeaffectedT3744Nsingle base exchangers121912705show file
ANK2polymorphism8.26161894451616e-09simple_aaeaffectedT3711Nsingle base exchangers121912705show file
ANK2polymorphism1.41247239460185e-08simple_aaeaffectedT1650Nsingle base exchangers121912705show file
ANK2polymorphism1.41247239460185e-08simple_aaeaffectedT1659Nsingle base exchangers121912705show file
ANK2polymorphism1.41247239460185e-08simple_aaeaffectedT835Nsingle base exchangers121912705show file
ANK2polymorphism3.77419230312981e-08simple_aaeaffectedT311Nsingle base exchangers121912705show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999991738381      (explain)
Summary
  • amino acid sequence changed
  • heterozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM041238)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:114288920C>AN/A show variant in all transcripts   IGV
HGNC symbol ANK2
Ensembl transcript ID ENST00000357077
Genbank transcript ID NM_001148
UniProt peptide Q01484
alteration type single base exchange
alteration region CDS
DNA changes c.11231C>A
cDNA.11284C>A
g.549656C>A
AA changes T3744N Score: 65 explain score(s)
position(s) of altered AA
if AA alteration in CDS
3744
frameshift no
known variant Reference ID: rs121912705
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC07575

known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)

known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)
known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3860.013
0.9160.107
(flanking)-0.0640.14
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased549657wt: 0.9512 / mu: 0.9516 (marginal change - not scored)wt: CAAACTCACAAGGAG
mu: CAAAATCACAAGGAG
 AACT|caca
Donor increased549660wt: 0.40 / mu: 0.68wt: ACTCACAAGGAGCAA
mu: AATCACAAGGAGCAA
 TCAC|aagg
Donor increased549650wt: 0.66 / mu: 0.83wt: CTTTCCCCAAACTCA
mu: CTTTCCCCAAAATCA
 TTCC|ccaa
Acc gained5496550.38mu: CAACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAA caaa|ATCA
distance from splice site 88
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      3744GDSSATALFPQTHKEQVQQDFSGK
mutated  not conserved    3744GDSSATALFPQNHKEQVQQDFSG
Ptroglodytes  all identical  ENSPTRG00000016382  3744GDSSATALFPQTHKEQVQQDFSG
Mmulatta  all identical  ENSMMUG00000008633  1659GDSSATALFPQTHKEQ
Fcatus  no alignment  ENSFCAG00000005384  n/a
Mmusculus  not conserved  ENSMUSG00000032826  786GDSPAAALSPQMHQEPVQQDFSG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000009026  3581GN---------THSESIHGDLME
Dmelanogaster  no alignment  FBgn0261788  n/a
Celegans  not conserved  B0350.2  3914ALPQ---ESVSQPIEK
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
37763776MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
37933793MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
37953795MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
37973797MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
38023802MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
38033803MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
38233823MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
38443844MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
39553956CONFLICTNN -> SM (in Ref. 5; AC093879).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 11874 / 11874
position (AA) of stopcodon in wt / mu AA sequence 3958 / 3958
position of stopcodon in wt / mu cDNA 11927 / 11927
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 54 / 54
chromosome 4
strand 1
last intron/exon boundary 11913
theoretical NMD boundary in CDS 11809
length of CDS 11874
coding sequence (CDS) position 11231
cDNA position
(for ins/del: last normal base / first normal base)
11284
gDNA position
(for ins/del: last normal base / first normal base)
549656
chromosomal position
(for ins/del: last normal base / first normal base)
114288920
original gDNA sequence snippet AACAGCACTCTTTCCCCAAACTCACAAGGAGCAAGTTCAAC
altered gDNA sequence snippet AACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAAC
original cDNA sequence snippet AACAGCACTCTTTCCCCAAACTCACAAGGAGCAAGTTCAAC
altered cDNA sequence snippet AACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAAC
wildtype AA sequence MMNEDAAQKS DSGEKFNGSS QRRKRPKKSD SNASFLRAAR AGNLDKVVEY LKGGIDINTC
NQNGLNALHL AAKEGHVGLV QELLGRGSSV DSATKKGNTA LHIASLAGQA EVVKVLVKEG
ANINAQSQNG FTPLYMAAQE NHIDVVKYLL ENGANQSTAT EDGFTPLAVA LQQGHNQAVA
ILLENDTKGK VRLPALHIAA RKDDTKSAAL LLQNDHNADV QSKMMVNRTT ESGFTPLHIA
AHYGNVNVAT LLLNRGAAVD FTARNGITPL HVASKRGNTN MVKLLLDRGG QIDAKTRDGL
TPLHCAARSG HDQVVELLLE RGAPLLARTK NGLSPLHMAA QGDHVECVKH LLQHKAPVDD
VTLDYLTALH VAAHCGHYRV TKLLLDKRAN PNARALNGFT PLHIACKKNR IKVMELLVKY
GASIQAITES GLTPIHVAAF MGHLNIVLLL LQNGASPDVT NIRGETALHM AARAGQVEVV
RCLLRNGALV DARAREEQTP LHIASRLGKT EIVQLLLQHM AHPDAATTNG YTPLHISARE
GQVDVASVLL EAGAAHSLAT KKGFTPLHVA AKYGSLDVAK LLLQRRAAAD SAGKNGLTPL
HVAAHYDNQK VALLLLEKGA SPHATAKNGY TPLHIAAKKN QMQIASTLLN YGAETNIVTK
QGVTPLHLAS QEGHTDMVTL LLDKGANIHM STKSGLTSLH LAAQEDKVNV ADILTKHGAD
QDAHTKLGYT PLIVACHYGN VKMVNFLLKQ GANVNAKTKN GYTPLHQAAQ QGHTHIINVL
LQHGAKPNAT TANGNTALAI AKRLGYISVV DTLKVVTEEV TTTTTTITEK HKLNVPETMT
EVLDVSDEEG DDTMTGDGGE YLRPEDLKEL GDDSLPSSQF LDGMNYLRYS LEGGRSDSLR
SFSSDRSHTL SHASYLRDSA VMDDSVVIPS HQVSTLAKEA ERNSYRLSWG TENLDNVALS
SSPIHSGFLV SFMVDARGGA MRGCRHNGLR IIIPPRKCTA PTRVTCRLVK RHRLATMPPM
VEGEGLASRL IEVGPSGAQF LGKLHLPTAP PPLNEGESLV SRILQLGPPG TKFLGPVIVE
IPHFAALRGK ERELVVLRSE NGDSWKEHFC DYTEDELNEI LNGMDEVLDS PEDLEKKRIC
RIITRDFPQY FAVVSRIKQD SNLIGPEGGV LSSTVVPQVQ AVFPEGALTK RIRVGLQAQP
MHSELVKKIL GNKATFSPIV TLEPRRRKFH KPITMTIPVP KASSDVMLNG FGGDAPTLRL
LCSITGGTTP AQWEDITGTT PLTFVNECVS FTTNVSARFW LIDCRQIQES VTFASQVYRE
IICVPYMAKF VVFAKSHDPI EARLRCFCMT DDKVDKTLEQ QENFAEVARS RDVEVLEGKP
IYVDCFGNLV PLTKSGQHHI FSFFAFKENR LPLFVKVRDT TQEPCGRLSF MKEPKSTRGL
VHQAICNLNI TLPIYTKESE SDQEQEEEID MTSEKNDETE STETSVLKSH LVNEVPVLAS
PDLLSEVSEM KQDLIKMTAI LTTDVSDKAG SIKVKELVKA AEEEPGEPFE IVERVKEDLE
KVNEILRSGT CTRDESSVQS SRSERGLVEE EWVIVSDEEI EEARQKAPLE ITEYPCVEVR
IDKEIKGKVE KDSTGLVNYL TDDLNTCVPL PKEQLQTVQD KAGKKCEALA VGRSSEKEGK
DIPPDETQST QKQHKPSLGI KKPVRRKLKE KQKQKEEGLQ ASAEKAELKK GSSEESLGED
PGLAPEPLPT VKATSPLIEE TPIGSIKDKV KALQKRVEDE QKGRSKLPIR VKGKEDVPKK
TTHRPHPAAS PSLKSERHAP GSPSPKTERH STLSSSAKTE RHPPVSPSSK TEKHSPVSPS
AKTERHSPAS SSSKTEKHSP VSPSTKTERH SPVSSTKTER HPPVSPSGKT DKRPPVSPSG
RTEKHPPVSP GRTEKRLPVS PSGRTDKHQP VSTAGKTEKH LPVSPSGKTE KQPPVSPTSK
TERIEETMSV RELMKAFQSG QDPSKHKTGL FEHKSAKQKQ PQEKGKVRVE KEKGPILTQR
EAQKTENQTI KRGQRLPVTG TAESKRGVRV SSIGVKKEDA AGGKEKVLSH KIPEPVQSVP
EEESHRESEV PKEKMADEQG DMDLQISPDR KTSTDFSEVI KQELEDNDKY QQFRLSEETE
KAQLHLDQVL TSPFNTTFPL DYMKDEFLPA LSLQSGALDG SSESLKNEGV AGSPCGSLME
GTPQISSEES YKHEGLAETP ETSPESLSFS PKKSEEQTGE TKESTKTETT TEIRSEKEHP
TTKDITGGSE ERGATVTEDS ETSTESFQKE ATLGSPKDTS PKRQDDCTGS CSVALAKETP
TGLTEEAACD EGQRTFGSSA HKTQTDSEVQ ESTATSDETK ALPLPEASVK TDTGTESKPQ
GVIRSPQGLE LALPSRDSEV LSAVADDSLA VSHKDSLEAS PVLEDNSSHK TPDSLEPSPL
KESPCRDSLE SSPVEPKMKA GIFPSHFPLP AAVAKTELLT EVASVRSRLL RDPDGSAEDD
SLEQTSLMES SGKSPLSPDT PSSEEVSYEV TPKTTDVSTP KPAVIHECAE EDDSENGEKK
RFTPEEEMFK MVTKIKMFDE LEQEAKQKRD YKKEPKQEES SSSSDPDADC SVDVDEPKHT
GSGEDESGVP VLVTSESRKV SSSSESEPEL AQLKKGADSG LLPEPVIRVQ PPSPLPSSMD
SNSSPEEVQF QPVVSKQYTF KMNEDTQEEP GKSEEEKDSE SHLAEDRHAV STEAEDRSYD
KLNRDTDQPK ICDGHGCEAM SPSSSAAPVS SGLQSPTGDD VDEQPVIYKE SLALQGTHEK
DTEGEELDVS RAESPQADCP SESFSSSSSL PHCLVSEGKE LDEDISATSS IQKTEVTKTD
ETFENLPKDC PSQDSSITTQ TDRFSMDVPV SDLAENDEIY DPQITSPYEN VPSQSFFSSE
ESKTQTDANH TTSFHSSEVY SVTITSPVED VVVASSSSGT VLSKESNFEG QDIKMESQQE
STLWEMQSDS VSSSFEPTMS ATTTVVGEQI SKVIITKTDV DSDSWSEIRE DDEAFEARVK
EEEQKIFGLM VDRQSQGTTP DTTPARTPTE EGTPTSEQNP FLFQEGKLFE MTRSGAIDMT
KRSYADESFH FFQIGQESRE ETLSEDVKEG ATGADPLPLE TSAESLALSE SKETVDDEAD
LLPDDVSEEV EEIPASDAQL NSQMGISAST ETPTKEAVSV GTKDLPTVQT GDIPPLSGVK
QISCPDSSEP AVQVQLDFST LTRSVYSDRG DDSPDSSPEE QKSVIEIPTA PMENVPFTES
KSKIPVRTMP TSTPAPPSAE YESSVSEDFL SSVDEENKAD EAKPKSKLPV KVPLQRVEQQ
LSDLDTSVQK TVAPQGQDMA SIAPDNRSKS ESDASSLDSK TKCPVKTRSY TETETESRER
AEELELESEE GATRPKILTS RLPVKSRSTT SSCRGGTSPT KESKEHFFDL YRNSIEFFEE
ISDEASKLVD RLTQSEREQE IVSDDESSSA LEVSVIENLP PVETEHSVPE DIFDTRPIWD
ESIETLIERI PDENGHDHAE DPQDEQERIE ERLAYIADHL GFSWTELARE LDFTEEQIHQ
IRIENPNSLQ DQSHALLKYW LERDGKHATD TNLVECLTKI NRMDIVHLME TNTEPLQERI
SHSYAEIEQT ITLDHSEGFS VLQEELCTAQ HKQKEEQAVS KESETCDHPP IVSEEDISVG
YSTFQDGVPK TEGDSSATAL FPQTHKEQVQ QDFSGKMQDL PEESSLEYQQ EYFVTTPGTE
TSETQKAMIV PSSPSKTPEE VSTPAEEEKL YLQTPTSSER GGSPIIQEPE EPSEHREESS
PRKTSLVIVE SADNQPETCE RLDEDAAFEK GDDMPEIPPE TVTEEEYIDE HGHTVVKKVT
RKIIRRYVSS EGTEKEEIMV QGMPQEPVNI EEGDGYSKVI KRVVLKSDTE QSEDNNE*
mutated AA sequence MMNEDAAQKS DSGEKFNGSS QRRKRPKKSD SNASFLRAAR AGNLDKVVEY LKGGIDINTC
NQNGLNALHL AAKEGHVGLV QELLGRGSSV DSATKKGNTA LHIASLAGQA EVVKVLVKEG
ANINAQSQNG FTPLYMAAQE NHIDVVKYLL ENGANQSTAT EDGFTPLAVA LQQGHNQAVA
ILLENDTKGK VRLPALHIAA RKDDTKSAAL LLQNDHNADV QSKMMVNRTT ESGFTPLHIA
AHYGNVNVAT LLLNRGAAVD FTARNGITPL HVASKRGNTN MVKLLLDRGG QIDAKTRDGL
TPLHCAARSG HDQVVELLLE RGAPLLARTK NGLSPLHMAA QGDHVECVKH LLQHKAPVDD
VTLDYLTALH VAAHCGHYRV TKLLLDKRAN PNARALNGFT PLHIACKKNR IKVMELLVKY
GASIQAITES GLTPIHVAAF MGHLNIVLLL LQNGASPDVT NIRGETALHM AARAGQVEVV
RCLLRNGALV DARAREEQTP LHIASRLGKT EIVQLLLQHM AHPDAATTNG YTPLHISARE
GQVDVASVLL EAGAAHSLAT KKGFTPLHVA AKYGSLDVAK LLLQRRAAAD SAGKNGLTPL
HVAAHYDNQK VALLLLEKGA SPHATAKNGY TPLHIAAKKN QMQIASTLLN YGAETNIVTK
QGVTPLHLAS QEGHTDMVTL LLDKGANIHM STKSGLTSLH LAAQEDKVNV ADILTKHGAD
QDAHTKLGYT PLIVACHYGN VKMVNFLLKQ GANVNAKTKN GYTPLHQAAQ QGHTHIINVL
LQHGAKPNAT TANGNTALAI AKRLGYISVV DTLKVVTEEV TTTTTTITEK HKLNVPETMT
EVLDVSDEEG DDTMTGDGGE YLRPEDLKEL GDDSLPSSQF LDGMNYLRYS LEGGRSDSLR
SFSSDRSHTL SHASYLRDSA VMDDSVVIPS HQVSTLAKEA ERNSYRLSWG TENLDNVALS
SSPIHSGFLV SFMVDARGGA MRGCRHNGLR IIIPPRKCTA PTRVTCRLVK RHRLATMPPM
VEGEGLASRL IEVGPSGAQF LGKLHLPTAP PPLNEGESLV SRILQLGPPG TKFLGPVIVE
IPHFAALRGK ERELVVLRSE NGDSWKEHFC DYTEDELNEI LNGMDEVLDS PEDLEKKRIC
RIITRDFPQY FAVVSRIKQD SNLIGPEGGV LSSTVVPQVQ AVFPEGALTK RIRVGLQAQP
MHSELVKKIL GNKATFSPIV TLEPRRRKFH KPITMTIPVP KASSDVMLNG FGGDAPTLRL
LCSITGGTTP AQWEDITGTT PLTFVNECVS FTTNVSARFW LIDCRQIQES VTFASQVYRE
IICVPYMAKF VVFAKSHDPI EARLRCFCMT DDKVDKTLEQ QENFAEVARS RDVEVLEGKP
IYVDCFGNLV PLTKSGQHHI FSFFAFKENR LPLFVKVRDT TQEPCGRLSF MKEPKSTRGL
VHQAICNLNI TLPIYTKESE SDQEQEEEID MTSEKNDETE STETSVLKSH LVNEVPVLAS
PDLLSEVSEM KQDLIKMTAI LTTDVSDKAG SIKVKELVKA AEEEPGEPFE IVERVKEDLE
KVNEILRSGT CTRDESSVQS SRSERGLVEE EWVIVSDEEI EEARQKAPLE ITEYPCVEVR
IDKEIKGKVE KDSTGLVNYL TDDLNTCVPL PKEQLQTVQD KAGKKCEALA VGRSSEKEGK
DIPPDETQST QKQHKPSLGI KKPVRRKLKE KQKQKEEGLQ ASAEKAELKK GSSEESLGED
PGLAPEPLPT VKATSPLIEE TPIGSIKDKV KALQKRVEDE QKGRSKLPIR VKGKEDVPKK
TTHRPHPAAS PSLKSERHAP GSPSPKTERH STLSSSAKTE RHPPVSPSSK TEKHSPVSPS
AKTERHSPAS SSSKTEKHSP VSPSTKTERH SPVSSTKTER HPPVSPSGKT DKRPPVSPSG
RTEKHPPVSP GRTEKRLPVS PSGRTDKHQP VSTAGKTEKH LPVSPSGKTE KQPPVSPTSK
TERIEETMSV RELMKAFQSG QDPSKHKTGL FEHKSAKQKQ PQEKGKVRVE KEKGPILTQR
EAQKTENQTI KRGQRLPVTG TAESKRGVRV SSIGVKKEDA AGGKEKVLSH KIPEPVQSVP
EEESHRESEV PKEKMADEQG DMDLQISPDR KTSTDFSEVI KQELEDNDKY QQFRLSEETE
KAQLHLDQVL TSPFNTTFPL DYMKDEFLPA LSLQSGALDG SSESLKNEGV AGSPCGSLME
GTPQISSEES YKHEGLAETP ETSPESLSFS PKKSEEQTGE TKESTKTETT TEIRSEKEHP
TTKDITGGSE ERGATVTEDS ETSTESFQKE ATLGSPKDTS PKRQDDCTGS CSVALAKETP
TGLTEEAACD EGQRTFGSSA HKTQTDSEVQ ESTATSDETK ALPLPEASVK TDTGTESKPQ
GVIRSPQGLE LALPSRDSEV LSAVADDSLA VSHKDSLEAS PVLEDNSSHK TPDSLEPSPL
KESPCRDSLE SSPVEPKMKA GIFPSHFPLP AAVAKTELLT EVASVRSRLL RDPDGSAEDD
SLEQTSLMES SGKSPLSPDT PSSEEVSYEV TPKTTDVSTP KPAVIHECAE EDDSENGEKK
RFTPEEEMFK MVTKIKMFDE LEQEAKQKRD YKKEPKQEES SSSSDPDADC SVDVDEPKHT
GSGEDESGVP VLVTSESRKV SSSSESEPEL AQLKKGADSG LLPEPVIRVQ PPSPLPSSMD
SNSSPEEVQF QPVVSKQYTF KMNEDTQEEP GKSEEEKDSE SHLAEDRHAV STEAEDRSYD
KLNRDTDQPK ICDGHGCEAM SPSSSAAPVS SGLQSPTGDD VDEQPVIYKE SLALQGTHEK
DTEGEELDVS RAESPQADCP SESFSSSSSL PHCLVSEGKE LDEDISATSS IQKTEVTKTD
ETFENLPKDC PSQDSSITTQ TDRFSMDVPV SDLAENDEIY DPQITSPYEN VPSQSFFSSE
ESKTQTDANH TTSFHSSEVY SVTITSPVED VVVASSSSGT VLSKESNFEG QDIKMESQQE
STLWEMQSDS VSSSFEPTMS ATTTVVGEQI SKVIITKTDV DSDSWSEIRE DDEAFEARVK
EEEQKIFGLM VDRQSQGTTP DTTPARTPTE EGTPTSEQNP FLFQEGKLFE MTRSGAIDMT
KRSYADESFH FFQIGQESRE ETLSEDVKEG ATGADPLPLE TSAESLALSE SKETVDDEAD
LLPDDVSEEV EEIPASDAQL NSQMGISAST ETPTKEAVSV GTKDLPTVQT GDIPPLSGVK
QISCPDSSEP AVQVQLDFST LTRSVYSDRG DDSPDSSPEE QKSVIEIPTA PMENVPFTES
KSKIPVRTMP TSTPAPPSAE YESSVSEDFL SSVDEENKAD EAKPKSKLPV KVPLQRVEQQ
LSDLDTSVQK TVAPQGQDMA SIAPDNRSKS ESDASSLDSK TKCPVKTRSY TETETESRER
AEELELESEE GATRPKILTS RLPVKSRSTT SSCRGGTSPT KESKEHFFDL YRNSIEFFEE
ISDEASKLVD RLTQSEREQE IVSDDESSSA LEVSVIENLP PVETEHSVPE DIFDTRPIWD
ESIETLIERI PDENGHDHAE DPQDEQERIE ERLAYIADHL GFSWTELARE LDFTEEQIHQ
IRIENPNSLQ DQSHALLKYW LERDGKHATD TNLVECLTKI NRMDIVHLME TNTEPLQERI
SHSYAEIEQT ITLDHSEGFS VLQEELCTAQ HKQKEEQAVS KESETCDHPP IVSEEDISVG
YSTFQDGVPK TEGDSSATAL FPQNHKEQVQ QDFSGKMQDL PEESSLEYQQ EYFVTTPGTE
TSETQKAMIV PSSPSKTPEE VSTPAEEEKL YLQTPTSSER GGSPIIQEPE EPSEHREESS
PRKTSLVIVE SADNQPETCE RLDEDAAFEK GDDMPEIPPE TVTEEEYIDE HGHTVVKKVT
RKIIRRYVSS EGTEKEEIMV QGMPQEPVNI EEGDGYSKVI KRVVLKSDTE QSEDNNE*
speed 1.13 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: 0.999999991738381      (explain)
Summary
  • amino acid sequence changed
  • heterozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM041238)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:114288920C>AN/A show variant in all transcripts   IGV
HGNC symbol ANK2
Ensembl transcript ID ENST00000264366
Genbank transcript ID N/A
UniProt peptide Q01484
alteration type single base exchange
alteration region CDS
DNA changes c.11132C>A
cDNA.11132C>A
g.549656C>A
AA changes T3711N Score: 65 explain score(s)
position(s) of altered AA
if AA alteration in CDS
3711
frameshift no
known variant Reference ID: rs121912705
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC07575

known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)

known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)
known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3860.013
0.9160.107
(flanking)-0.0640.14
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased549657wt: 0.9512 / mu: 0.9516 (marginal change - not scored)wt: CAAACTCACAAGGAG
mu: CAAAATCACAAGGAG
 AACT|caca
Donor increased549660wt: 0.40 / mu: 0.68wt: ACTCACAAGGAGCAA
mu: AATCACAAGGAGCAA
 TCAC|aagg
Donor increased549650wt: 0.66 / mu: 0.83wt: CTTTCCCCAAACTCA
mu: CTTTCCCCAAAATCA
 TTCC|ccaa
Acc gained5496550.38mu: CAACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAA caaa|ATCA
distance from splice site 88
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      3711GDSSATALFPQTHKEQVQQDFSGK
mutated  not conserved    3711GDSSATALFPQNHKEQVQQDF
Ptroglodytes  all identical  ENSPTRG00000016382  3744GDSSATALFPQTHKEQVQQDFSG
Mmulatta  all identical  ENSMMUG00000008633  1659GDSSATALFPQTHKEQ
Fcatus  no alignment  ENSFCAG00000005384  n/a
Mmusculus  not conserved  ENSMUSG00000032826  786GDSPAAALSPQMHQEPVQQDFSG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000009026  3581GN---------THSESIHGDLME
Dmelanogaster  no alignment  FBgn0261788  n/a
Celegans  not conserved  B0350.2  3914KHHDQSSALPQ---ESVSQPIEK
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
37353735MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
37373737CONFLICTA -> S (in Ref. 1; CAA40279 and 3; CAB42644).might get lost (downstream of altered splice site)
37763776MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
37933793MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
37953795MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
37973797MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
38023802MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
38033803MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
38233823MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
38443844MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
39553956CONFLICTNN -> SM (in Ref. 5; AC093879).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 11775 / 11775
position (AA) of stopcodon in wt / mu AA sequence 3925 / 3925
position of stopcodon in wt / mu cDNA 11775 / 11775
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 4
strand 1
last intron/exon boundary 11761
theoretical NMD boundary in CDS 11710
length of CDS 11775
coding sequence (CDS) position 11132
cDNA position
(for ins/del: last normal base / first normal base)
11132
gDNA position
(for ins/del: last normal base / first normal base)
549656
chromosomal position
(for ins/del: last normal base / first normal base)
114288920
original gDNA sequence snippet AACAGCACTCTTTCCCCAAACTCACAAGGAGCAAGTTCAAC
altered gDNA sequence snippet AACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAAC
original cDNA sequence snippet AACAGCACTCTTTCCCCAAACTCACAAGGAGCAAGTTCAAC
altered cDNA sequence snippet AACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAAC
wildtype AA sequence MMNEDAAQKS DSGEKFNGSS QRRKRPKKSD SNASFLRAAR AGNLDKVVEY LKGGIDINTC
NQNGLNALHL AAKEGHVGLV QELLGRGSSV DSATKKGNTA LHIASLAGQA EVVKVLVKEG
ANINAQSQNG FTPLYMAAQE NHIDVVKYLL ENGANQSTAT EDGFTPLAVA LQQGHNQAVA
ILLENDTKGK VRLPALHIAA RKDDTKSAAL LLQNDHNADV QSKMMVNRTT ESGFTPLHIA
AHYGNVNVAT LLLNRGAAVD FTARNGITPL HVASKRGNTN MVKLLLDRGG QIDAKTRDGL
TPLHCAARSG HDQVVELLLE RGAPLLARTK NGLSPLHMAA QGDHVECVKH LLQHKAPVDD
VTLDYLTALH VAAHCGHYRV TKLLLDKRAN PNARALNGFT PLHIACKKNR IKVMELLVKY
GASIQAITES GLTPIHVAAF MGHLNIVLLL LQNGASPDVT NIRGETALHM AARAGQVEVV
RCLLRNGALV DARAREEQTP LHIASRLGKT EIVQLLLQHM AHPDAATTNG YTPLHISARE
GQVDVASVLL EAGAAHSLAT KKGFTPLHVA AKYGSLDVAK LLLQRRAAAD SAGKNGLTPL
HVAAHYDNQK VALLLLEKGA SPHATAKNGY TPLHIAAKKN QMQIASTLLN YGAETNIVTK
QGVTPLHLAS QEGHTDMVTL LLDKGANIHM STKSGLTSLH LAAQEDKVNV ADILTKHGAD
QDAHTKLGYT PLIVACHYGN VKMVNFLLKQ GANVNAKTKN GYTPLHQAAQ QGHTHIINVL
LQHGAKPNAT TANGNTALAI AKRLGYISVV DTLKVVTEEV TTTTTTITEK HKLNVPETMT
EVLDVSDEEG DDTMTGDGGE YLRPEDLKEL GDDSLPSSQF LDGMNYLRYS LEGGRSDSLR
SFSSDRSHTL SHASYLRDSA VMDDSVVIPS HQVSTLAKEA ERNSYRLSWG TENLDNVALS
SSPIHSGFLV SFMVDARGGA MRGCRHNGLR IIIPPRKCTA PTRVTCRLVK RHRLATMPPM
VEGEGLASRL IEVGPSGAQF LGPVIVEIPH FAALRGKERE LVVLRSENGD SWKEHFCDYT
EDELNEILNG MDEVLDSPED LEKKRICRII TRDFPQYFAV VSRIKQDSNL IGPEGGVLSS
TVVPQVQAVF PEGALTKRIR VGLQAQPMHS ELVKKILGNK ATFSPIVTLE PRRRKFHKPI
TMTIPVPKAS SDVMLNGFGG DAPTLRLLCS ITGGTTPAQW EDITGTTPLT FVNECVSFTT
NVSARFWLID CRQIQESVTF ASQVYREIIC VPYMAKFVVF AKSHDPIEAR LRCFCMTDDK
VDKTLEQQEN FAEVARSRDV EVLEGKPIYV DCFGNLVPLT KSGQHHIFSF FAFKENRLPL
FVKVRDTTQE PCGRLSFMKE PKSTRGLVHQ AICNLNITLP IYTKESESDQ EQEEEIDMTS
EKNDETESTE TSVLKSHLVN EVPVLASPDL LSEVSEMKQD LIKMTAILTT DVSDKAGSIK
VKELVKAAEE EPGEPFEIVE RVKEDLEKVN EILRSGTCTR DESSVQSSRS ERGLVEEEWV
IVSDEEIEEA RQKAPLEITE YPCVEVRIDK EIKGKVEKDS TGLVNYLTDD LNTCVPLPKE
QLQTVQDKAG KKCEALAVGR SSEKEGKDIP PDETQSTQKQ HKPSLGIKKP VRRKLKEKQK
QKEEGLQASA EKAELKKGSS EESLGEDPGL APEPLPTVKA TSPLIEETPI GSIKDKVKAL
QKRVEDEQKG RSKLPIRVKG KEDVPKKTTH RPHPAASPSL KSERHAPGSP SPKTERHSTL
SSSAKTERHP PVSPSSKTEK HSPVSPSAKT ERHSPASSSS KTEKHSPVSP STKTERHSPV
SSTKTERHPP VSPSGKTDKR PPVSPSGRTE KHPPVSPGRT EKRLPVSPSG RTDKHQPVST
AGKTEKHLPV SPSGKTEKQP PVSPTSKTER IEETMSVREL MKAFQSGQDP SKHKTGLFEH
KSAKQKQPQE KGKVRVEKEK GPILTQREAQ KTENQTIKRG QRLPVTGTAE SKRGVRVSSI
GVKKEDAAGG KEKVLSHKIP EPVQSVPEEE SHRESEVPKE KMADEQGDMD LQISPDRKTS
TDFSEVIKQE LEDNDKYQQF RLSEETEKAQ LHLDQVLTSP FNTTFPLDYM KDEFLPALSL
QSGALDGSSE SLKNEGVAGS PCGSLMEGTP QISSEESYKH EGLAETPETS PESLSFSPKK
SEEQTGETKE STKTETTTEI RSEKEHPTTK DITGGSEERG ATVTEDSETS TESFQKEATL
GSPKDTSPKR QDDCTGSCSV ALAKETPTGL TEEAACDEGQ RTFGSSAHKT QTDSEVQEST
ATSDETKALP LPEASVKTDT GTESKPQGVI RSPQGLELAL PSRDSEVLSA VADDSLAVSH
KDSLEASPVL EDNSSHKTPD SLEPSPLKES PCRDSLESSP VEPKMKAGIF PSHFPLPAAV
AKTELLTEVA SVRSRLLRDP DGSAEDDSLE QTSLMESSGK SPLSPDTPSS EEVSYEVTPK
TTDVSTPKPA VIHECAEEDD SENGEKKRFT PEEEMFKMVT KIKMFDELEQ EAKQKRDYKK
EPKQEESSSS SDPDADCSVD VDEPKHTGSG EDESGVPVLV TSESRKVSSS SESEPELAQL
KKGADSGLLP EPVIRVQPPS PLPSSMDSNS SPEEVQFQPV VSKQYTFKMN EDTQEEPGKS
EEEKDSESHL AEDRHAVSTE AEDRSYDKLN RDTDQPKICD GHGCEAMSPS SSAAPVSSGL
QSPTGDDVDE QPVIYKESLA LQGTHEKDTE GEELDVSRAE SPQADCPSES FSSSSSLPHC
LVSEGKELDE DISATSSIQK TEVTKTDETF ENLPKDCPSQ DSSITTQTDR FSMDVPVSDL
AENDEIYDPQ ITSPYENVPS QSFFSSEESK TQTDANHTTS FHSSEVYSVT ITSPVEDVVV
ASSSSGTVLS KESNFEGQDI KMESQQESTL WEMQSDSVSS SFEPTMSATT TVVGEQISKV
IITKTDVDSD SWSEIREDDE AFEARVKEEE QKIFGLMVDR QSQGTTPDTT PARTPTEEGT
PTSEQNPFLF QEGKLFEMTR SGAIDMTKRS YADESFHFFQ IGQESREETL SEDVKEGATG
ADPLPLETSA ESLALSESKE TVDDEADLLP DDVSEEVEEI PASDAQLNSQ MGISASTETP
TKEAVSVGTK DLPTVQTGDI PPLSGVKQIS CPDSSEPAVQ VQLDFSTLTR SVYSDRGDDS
PDSSPEEQKS VIEIPTAPME NVPFTESKSK IPVRTMPTST PAPPSAEYES SVSEDFLSSV
DEENKADEAK PKSKLPVKVP LQRVEQQLSD LDTSVQKTVA PQGQDMASIA PDNRSKSESD
ASSLDSKTKC PVKTRSYTET ETESRERAEE LELESEEGAT RPKILTSRLP VKSRSTTSSC
RGGTSPTKES KEHFFDLYRN SIEFFEEISD EASKLVDRLT QSEREQEIVS DDESSSALEV
SVIENLPPVE TEHSVPEDIF DTRPIWDESI ETLIERIPDE NGHDHAEDPQ DEQERIEERL
AYIADHLGFS WTELARELDF TEEQIHQIRI ENPNSLQDQS HALLKYWLER DGKHATDTNL
VECLTKINRM DIVHLMETNT EPLQERISHS YAEIEQTITL DHSEGFSVLQ EELCTAQHKQ
KEEQAVSKES ETCDHPPIVS EEDISVGYST FQDGVPKTEG DSSATALFPQ THKEQVQQDF
SGKMQDLPEE SSLEYQQEYF VTTPGTETSE TQKAMIVPSS PSKTPEEVST PAEEEKLYLQ
TPTSSERGGS PIIQEPEEPS EHREESSPRK TSLVIVESAD NQPETCERLD EDAAFEKGDD
MPEIPPETVT EEEYIDEHGH TVVKKVTRKI IRRYVSSEGT EKEEIMVQGM PQEPVNIEEG
DGYSKVIKRV VLKSDTEQSE DNNE*
mutated AA sequence MMNEDAAQKS DSGEKFNGSS QRRKRPKKSD SNASFLRAAR AGNLDKVVEY LKGGIDINTC
NQNGLNALHL AAKEGHVGLV QELLGRGSSV DSATKKGNTA LHIASLAGQA EVVKVLVKEG
ANINAQSQNG FTPLYMAAQE NHIDVVKYLL ENGANQSTAT EDGFTPLAVA LQQGHNQAVA
ILLENDTKGK VRLPALHIAA RKDDTKSAAL LLQNDHNADV QSKMMVNRTT ESGFTPLHIA
AHYGNVNVAT LLLNRGAAVD FTARNGITPL HVASKRGNTN MVKLLLDRGG QIDAKTRDGL
TPLHCAARSG HDQVVELLLE RGAPLLARTK NGLSPLHMAA QGDHVECVKH LLQHKAPVDD
VTLDYLTALH VAAHCGHYRV TKLLLDKRAN PNARALNGFT PLHIACKKNR IKVMELLVKY
GASIQAITES GLTPIHVAAF MGHLNIVLLL LQNGASPDVT NIRGETALHM AARAGQVEVV
RCLLRNGALV DARAREEQTP LHIASRLGKT EIVQLLLQHM AHPDAATTNG YTPLHISARE
GQVDVASVLL EAGAAHSLAT KKGFTPLHVA AKYGSLDVAK LLLQRRAAAD SAGKNGLTPL
HVAAHYDNQK VALLLLEKGA SPHATAKNGY TPLHIAAKKN QMQIASTLLN YGAETNIVTK
QGVTPLHLAS QEGHTDMVTL LLDKGANIHM STKSGLTSLH LAAQEDKVNV ADILTKHGAD
QDAHTKLGYT PLIVACHYGN VKMVNFLLKQ GANVNAKTKN GYTPLHQAAQ QGHTHIINVL
LQHGAKPNAT TANGNTALAI AKRLGYISVV DTLKVVTEEV TTTTTTITEK HKLNVPETMT
EVLDVSDEEG DDTMTGDGGE YLRPEDLKEL GDDSLPSSQF LDGMNYLRYS LEGGRSDSLR
SFSSDRSHTL SHASYLRDSA VMDDSVVIPS HQVSTLAKEA ERNSYRLSWG TENLDNVALS
SSPIHSGFLV SFMVDARGGA MRGCRHNGLR IIIPPRKCTA PTRVTCRLVK RHRLATMPPM
VEGEGLASRL IEVGPSGAQF LGPVIVEIPH FAALRGKERE LVVLRSENGD SWKEHFCDYT
EDELNEILNG MDEVLDSPED LEKKRICRII TRDFPQYFAV VSRIKQDSNL IGPEGGVLSS
TVVPQVQAVF PEGALTKRIR VGLQAQPMHS ELVKKILGNK ATFSPIVTLE PRRRKFHKPI
TMTIPVPKAS SDVMLNGFGG DAPTLRLLCS ITGGTTPAQW EDITGTTPLT FVNECVSFTT
NVSARFWLID CRQIQESVTF ASQVYREIIC VPYMAKFVVF AKSHDPIEAR LRCFCMTDDK
VDKTLEQQEN FAEVARSRDV EVLEGKPIYV DCFGNLVPLT KSGQHHIFSF FAFKENRLPL
FVKVRDTTQE PCGRLSFMKE PKSTRGLVHQ AICNLNITLP IYTKESESDQ EQEEEIDMTS
EKNDETESTE TSVLKSHLVN EVPVLASPDL LSEVSEMKQD LIKMTAILTT DVSDKAGSIK
VKELVKAAEE EPGEPFEIVE RVKEDLEKVN EILRSGTCTR DESSVQSSRS ERGLVEEEWV
IVSDEEIEEA RQKAPLEITE YPCVEVRIDK EIKGKVEKDS TGLVNYLTDD LNTCVPLPKE
QLQTVQDKAG KKCEALAVGR SSEKEGKDIP PDETQSTQKQ HKPSLGIKKP VRRKLKEKQK
QKEEGLQASA EKAELKKGSS EESLGEDPGL APEPLPTVKA TSPLIEETPI GSIKDKVKAL
QKRVEDEQKG RSKLPIRVKG KEDVPKKTTH RPHPAASPSL KSERHAPGSP SPKTERHSTL
SSSAKTERHP PVSPSSKTEK HSPVSPSAKT ERHSPASSSS KTEKHSPVSP STKTERHSPV
SSTKTERHPP VSPSGKTDKR PPVSPSGRTE KHPPVSPGRT EKRLPVSPSG RTDKHQPVST
AGKTEKHLPV SPSGKTEKQP PVSPTSKTER IEETMSVREL MKAFQSGQDP SKHKTGLFEH
KSAKQKQPQE KGKVRVEKEK GPILTQREAQ KTENQTIKRG QRLPVTGTAE SKRGVRVSSI
GVKKEDAAGG KEKVLSHKIP EPVQSVPEEE SHRESEVPKE KMADEQGDMD LQISPDRKTS
TDFSEVIKQE LEDNDKYQQF RLSEETEKAQ LHLDQVLTSP FNTTFPLDYM KDEFLPALSL
QSGALDGSSE SLKNEGVAGS PCGSLMEGTP QISSEESYKH EGLAETPETS PESLSFSPKK
SEEQTGETKE STKTETTTEI RSEKEHPTTK DITGGSEERG ATVTEDSETS TESFQKEATL
GSPKDTSPKR QDDCTGSCSV ALAKETPTGL TEEAACDEGQ RTFGSSAHKT QTDSEVQEST
ATSDETKALP LPEASVKTDT GTESKPQGVI RSPQGLELAL PSRDSEVLSA VADDSLAVSH
KDSLEASPVL EDNSSHKTPD SLEPSPLKES PCRDSLESSP VEPKMKAGIF PSHFPLPAAV
AKTELLTEVA SVRSRLLRDP DGSAEDDSLE QTSLMESSGK SPLSPDTPSS EEVSYEVTPK
TTDVSTPKPA VIHECAEEDD SENGEKKRFT PEEEMFKMVT KIKMFDELEQ EAKQKRDYKK
EPKQEESSSS SDPDADCSVD VDEPKHTGSG EDESGVPVLV TSESRKVSSS SESEPELAQL
KKGADSGLLP EPVIRVQPPS PLPSSMDSNS SPEEVQFQPV VSKQYTFKMN EDTQEEPGKS
EEEKDSESHL AEDRHAVSTE AEDRSYDKLN RDTDQPKICD GHGCEAMSPS SSAAPVSSGL
QSPTGDDVDE QPVIYKESLA LQGTHEKDTE GEELDVSRAE SPQADCPSES FSSSSSLPHC
LVSEGKELDE DISATSSIQK TEVTKTDETF ENLPKDCPSQ DSSITTQTDR FSMDVPVSDL
AENDEIYDPQ ITSPYENVPS QSFFSSEESK TQTDANHTTS FHSSEVYSVT ITSPVEDVVV
ASSSSGTVLS KESNFEGQDI KMESQQESTL WEMQSDSVSS SFEPTMSATT TVVGEQISKV
IITKTDVDSD SWSEIREDDE AFEARVKEEE QKIFGLMVDR QSQGTTPDTT PARTPTEEGT
PTSEQNPFLF QEGKLFEMTR SGAIDMTKRS YADESFHFFQ IGQESREETL SEDVKEGATG
ADPLPLETSA ESLALSESKE TVDDEADLLP DDVSEEVEEI PASDAQLNSQ MGISASTETP
TKEAVSVGTK DLPTVQTGDI PPLSGVKQIS CPDSSEPAVQ VQLDFSTLTR SVYSDRGDDS
PDSSPEEQKS VIEIPTAPME NVPFTESKSK IPVRTMPTST PAPPSAEYES SVSEDFLSSV
DEENKADEAK PKSKLPVKVP LQRVEQQLSD LDTSVQKTVA PQGQDMASIA PDNRSKSESD
ASSLDSKTKC PVKTRSYTET ETESRERAEE LELESEEGAT RPKILTSRLP VKSRSTTSSC
RGGTSPTKES KEHFFDLYRN SIEFFEEISD EASKLVDRLT QSEREQEIVS DDESSSALEV
SVIENLPPVE TEHSVPEDIF DTRPIWDESI ETLIERIPDE NGHDHAEDPQ DEQERIEERL
AYIADHLGFS WTELARELDF TEEQIHQIRI ENPNSLQDQS HALLKYWLER DGKHATDTNL
VECLTKINRM DIVHLMETNT EPLQERISHS YAEIEQTITL DHSEGFSVLQ EELCTAQHKQ
KEEQAVSKES ETCDHPPIVS EEDISVGYST FQDGVPKTEG DSSATALFPQ NHKEQVQQDF
SGKMQDLPEE SSLEYQQEYF VTTPGTETSE TQKAMIVPSS PSKTPEEVST PAEEEKLYLQ
TPTSSERGGS PIIQEPEEPS EHREESSPRK TSLVIVESAD NQPETCERLD EDAAFEKGDD
MPEIPPETVT EEEYIDEHGH TVVKKVTRKI IRRYVSSEGT EKEEIMVQGM PQEPVNIEEG
DGYSKVIKRV VLKSDTEQSE DNNE*
speed 0.66 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: 0.999999985875276      (explain)
Summary
  • amino acid sequence changed
  • heterozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM041238)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:114288920C>AN/A show variant in all transcripts   IGV
HGNC symbol ANK2
Ensembl transcript ID ENST00000506722
Genbank transcript ID NM_001127493
UniProt peptide Q01484
alteration type single base exchange
alteration region CDS
DNA changes c.4949C>A
cDNA.5144C>A
g.549656C>A
AA changes T1650N Score: 65 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1650
frameshift no
known variant Reference ID: rs121912705
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC07575

known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)

known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)
known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3860.013
0.9160.107
(flanking)-0.0640.14
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased549657wt: 0.9512 / mu: 0.9516 (marginal change - not scored)wt: CAAACTCACAAGGAG
mu: CAAAATCACAAGGAG
 AACT|caca
Donor increased549660wt: 0.40 / mu: 0.68wt: ACTCACAAGGAGCAA
mu: AATCACAAGGAGCAA
 TCAC|aagg
Donor increased549650wt: 0.66 / mu: 0.83wt: CTTTCCCCAAACTCA
mu: CTTTCCCCAAAATCA
 TTCC|ccaa
Acc gained5496550.38mu: CAACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAA caaa|ATCA
distance from splice site 88
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1650GDSSATALFPQTHKEQVQQDFSGK
mutated  not conserved    1650GDSSATALFPQNHKEQVQQDFSG
Ptroglodytes  not conserved  ENSPTRG00000016382  1650YLTDDLNTYVPLPKEQLQTVQDKAG
Mmulatta  all identical  ENSMMUG00000008633  1659GDSSATALFPQTHKEQVQQDFSG
Fcatus  all identical  ENSFCAG00000005384  3734ELFPQTHKEQVQQDFSG
Mmusculus  not conserved  ENSMUSG00000032826  786GDSPAAALSPQMHQEPVQQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000009026  3581GN---------THSESIHGDLME
Dmelanogaster  all identical  FBgn0261788  1587KRLSIERSIPASTQKKEITREITEI
Celegans  not conserved  B0350.2  1719LNEDEQQKWE---
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
18061817REPEATRepeat A.might get lost (downstream of altered splice site)
18061983REGIONRepeat-rich region.might get lost (downstream of altered splice site)
18181829REPEATRepeat A.might get lost (downstream of altered splice site)
18301841REPEATRepeat A.might get lost (downstream of altered splice site)
18421853REPEATRepeat A.might get lost (downstream of altered splice site)
18541865REPEATRepeat A.might get lost (downstream of altered splice site)
18661877REPEATRepeat A.might get lost (downstream of altered splice site)
18781889REPEATRepeat A.might get lost (downstream of altered splice site)
18901900REPEATRepeat A; approximate.might get lost (downstream of altered splice site)
19011912REPEATRepeat A.might get lost (downstream of altered splice site)
19131924REPEATRepeat A.might get lost (downstream of altered splice site)
19251935REPEATRepeat A; approximate.might get lost (downstream of altered splice site)
19361947REPEATRepeat A.might get lost (downstream of altered splice site)
19481959REPEATRepeat A.might get lost (downstream of altered splice site)
19601971REPEATRepeat A.might get lost (downstream of altered splice site)
19721983REPEATRepeat A.might get lost (downstream of altered splice site)
25832583MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
27872787CONFLICTA -> R (in Ref. 3; CAB42644).might get lost (downstream of altered splice site)
29992999CONFLICTQ -> L (in Ref. 3; CAB42644).might get lost (downstream of altered splice site)
30933093MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
31403141CONFLICTEE -> RY (in Ref. 5; AC093879).might get lost (downstream of altered splice site)
31853185CONFLICTD -> S (in Ref. 3; CAB42644).might get lost (downstream of altered splice site)
32733273MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
33623362MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
33903390MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
34093409MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
34103410MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
35693653DOMAINDeath 2.might get lost (downstream of altered splice site)
35713580HELIXmight get lost (downstream of altered splice site)
35833590HELIXmight get lost (downstream of altered splice site)
35953604HELIXmight get lost (downstream of altered splice site)
36093624HELIXmight get lost (downstream of altered splice site)
36253627HELIXmight get lost (downstream of altered splice site)
36303639HELIXmight get lost (downstream of altered splice site)
36433646HELIXmight get lost (downstream of altered splice site)
36993699CONFLICTV -> A (in Ref. 4; CAD97827).might get lost (downstream of altered splice site)
37353735MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
37373737CONFLICTA -> S (in Ref. 1; CAA40279 and 3; CAB42644).might get lost (downstream of altered splice site)
37763776MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
37933793MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
37953795MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
37973797MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
38023802MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
38033803MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
38233823MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
38443844MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
39553956CONFLICTNN -> SM (in Ref. 5; AC093879).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5592 / 5592
position (AA) of stopcodon in wt / mu AA sequence 1864 / 1864
position of stopcodon in wt / mu cDNA 5787 / 5787
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 196 / 196
chromosome 4
strand 1
last intron/exon boundary 5773
theoretical NMD boundary in CDS 5527
length of CDS 5592
coding sequence (CDS) position 4949
cDNA position
(for ins/del: last normal base / first normal base)
5144
gDNA position
(for ins/del: last normal base / first normal base)
549656
chromosomal position
(for ins/del: last normal base / first normal base)
114288920
original gDNA sequence snippet AACAGCACTCTTTCCCCAAACTCACAAGGAGCAAGTTCAAC
altered gDNA sequence snippet AACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAAC
original cDNA sequence snippet AACAGCACTCTTTCCCCAAACTCACAAGGAGCAAGTTCAAC
altered cDNA sequence snippet AACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAAC
wildtype AA sequence MTTMLQKSDS NASFLRAARA GNLDKVVEYL KGGIDINTCN QNGLNALHLA AKEGHVGLVQ
ELLGRGSSVD SATKKGNTAL HIASLAGQAE VVKVLVKEGA NINAQSQNGF TPLYMAAQEN
HIDVVKYLLE NGANQSTATE DGFTPLAVAL QQGHNQAVAI LLENDTKGKV RLPALHIAAR
KDDTKSAALL LQNDHNADVQ SKMMVNRTTE SGFTPLHIAA HYGNVNVATL LLNRGAAVDF
TARNGITPLH VASKRGNTNM VKLLLDRGGQ IDAKTRDGLT PLHCAARSGH DQVVELLLER
GAPLLARTKN GLSPLHMAAQ GDHVECVKHL LQHKAPVDDV TLDYLTALHV AAHCGHYRVT
KLLLDKRANP NARALNGFTP LHIACKKNRI KVMELLVKYG ASIQAITESG LTPIHVAAFM
GHLNIVLLLL QNGASPDVTN IRGETALHMA ARAGQVEVVR CLLRNGALVD ARAREEQTPL
HIASRLGKTE IVQLLLQHMA HPDAATTNGY TPLHISAREG QVDVASVLLE AGAAHSLATK
KGFTPLHVAA KYGSLDVAKL LLQRRAAADS AGKNGLTPLH VAAHYDNQKV ALLLLEKGAS
PHATAKNGYT PLHIAAKKNQ MQIASTLLNY GAETNIVTKQ GVTPLHLASQ EGHTDMVTLL
LDKGANIHMS TKSGLTSLHL AAQEDKVNVA DILTKHGADQ DAHTKLGYTP LIVACHYGNV
KMVNFLLKQG ANVNAKTKNG YTPLHQAAQQ GHTHIINVLL QHGAKPNATT ANGNTALAIA
KRLGYISVVD TLKVVTEEVT TTTTTITEKH KLNVPETMTE VLDVSDEEGD DTMTGDGGEY
LRPEDLKELG DDSLPSSQFL DGMNYLRYSL EGGRSDSLRS FSSDRSHTLS HASYLRDSAV
MDDSVVIPSH QVSTLAKEAE RNSYRLSWGT ENLDNVALSS SPIHSGRASP CLERDNSSFL
VSFMVDARGG AMRGCRHNGL RIIIPPRKCT APTRVTCRLV KRHRLATMPP MVEGEGLASR
LIEVGPSGAQ FLGKLHLPTA PPPLNEGESL VSRILQLGPP GTKFLGPVIV EIPHFAALRG
KERELVVLRS ENGDSWKEHF CDYTEDELNE ILNGMDEVLD SPEDLEKKRI CRIITRDFPQ
YFAVVSRIKQ DSNLIGPEGG VLSSTVVPQV QAVFPEGALT KRIRVGLQAQ PMHSELVKKI
LGNKATFSPI VTLEPRRRKF HKPITMTIPV PKASSDVMLN GFGGDAPTLR LLCSITGGTT
PAQWEDITGT TPLTFVNECV SFTTNVSARF WLIDCRQIQE SVTFASQVYR EIICVPYMAK
FVVFAKSHDP IEARLRCFCM TDDKVDKTLE QQENFAEVAR SRDVEVLEGK PIYVDCFGNL
VPLTKSGQHH IFSFFAFKEN RLPLFVKVRD TTQEPCGRLS FMKEPKSTRG LVHQAICNLN
ITLPIYTKES ESDQEQEEEI DMTSEKNPQD EQERIEERLA YIADHLGFSW TELARELDFT
EEQIHQIRIE NPNSLQDQSH ALLKYWLERD GKHATDTNLV ECLTKINRMD IVHLMETNTE
PLQERISHSY AEIEQTITLD HSEGFSVLQE ELCTAQHKQK EEQAVSKESE TCDHPPIVSE
EDISVGYSTF QDGVPKTEGD SSATALFPQT HKEQVQQDFS GKMQDLPEES SLEYQQEYFV
TTPGTETSET QKAMIVPSSP SKTPEEVSTP AEEEKLYLQT PTSSERGGSP IIQEPEEPSE
HREESSPRKT SLVIVESADN QPETCERLDE DAAFEKGDDM PEIPPETVTE EEYIDEHGHT
VVKKVTRKII RRYVSSEGTE KEEIMVQGMP QEPVNIEEGD GYSKVIKRVV LKSDTEQSED
NNE*
mutated AA sequence MTTMLQKSDS NASFLRAARA GNLDKVVEYL KGGIDINTCN QNGLNALHLA AKEGHVGLVQ
ELLGRGSSVD SATKKGNTAL HIASLAGQAE VVKVLVKEGA NINAQSQNGF TPLYMAAQEN
HIDVVKYLLE NGANQSTATE DGFTPLAVAL QQGHNQAVAI LLENDTKGKV RLPALHIAAR
KDDTKSAALL LQNDHNADVQ SKMMVNRTTE SGFTPLHIAA HYGNVNVATL LLNRGAAVDF
TARNGITPLH VASKRGNTNM VKLLLDRGGQ IDAKTRDGLT PLHCAARSGH DQVVELLLER
GAPLLARTKN GLSPLHMAAQ GDHVECVKHL LQHKAPVDDV TLDYLTALHV AAHCGHYRVT
KLLLDKRANP NARALNGFTP LHIACKKNRI KVMELLVKYG ASIQAITESG LTPIHVAAFM
GHLNIVLLLL QNGASPDVTN IRGETALHMA ARAGQVEVVR CLLRNGALVD ARAREEQTPL
HIASRLGKTE IVQLLLQHMA HPDAATTNGY TPLHISAREG QVDVASVLLE AGAAHSLATK
KGFTPLHVAA KYGSLDVAKL LLQRRAAADS AGKNGLTPLH VAAHYDNQKV ALLLLEKGAS
PHATAKNGYT PLHIAAKKNQ MQIASTLLNY GAETNIVTKQ GVTPLHLASQ EGHTDMVTLL
LDKGANIHMS TKSGLTSLHL AAQEDKVNVA DILTKHGADQ DAHTKLGYTP LIVACHYGNV
KMVNFLLKQG ANVNAKTKNG YTPLHQAAQQ GHTHIINVLL QHGAKPNATT ANGNTALAIA
KRLGYISVVD TLKVVTEEVT TTTTTITEKH KLNVPETMTE VLDVSDEEGD DTMTGDGGEY
LRPEDLKELG DDSLPSSQFL DGMNYLRYSL EGGRSDSLRS FSSDRSHTLS HASYLRDSAV
MDDSVVIPSH QVSTLAKEAE RNSYRLSWGT ENLDNVALSS SPIHSGRASP CLERDNSSFL
VSFMVDARGG AMRGCRHNGL RIIIPPRKCT APTRVTCRLV KRHRLATMPP MVEGEGLASR
LIEVGPSGAQ FLGKLHLPTA PPPLNEGESL VSRILQLGPP GTKFLGPVIV EIPHFAALRG
KERELVVLRS ENGDSWKEHF CDYTEDELNE ILNGMDEVLD SPEDLEKKRI CRIITRDFPQ
YFAVVSRIKQ DSNLIGPEGG VLSSTVVPQV QAVFPEGALT KRIRVGLQAQ PMHSELVKKI
LGNKATFSPI VTLEPRRRKF HKPITMTIPV PKASSDVMLN GFGGDAPTLR LLCSITGGTT
PAQWEDITGT TPLTFVNECV SFTTNVSARF WLIDCRQIQE SVTFASQVYR EIICVPYMAK
FVVFAKSHDP IEARLRCFCM TDDKVDKTLE QQENFAEVAR SRDVEVLEGK PIYVDCFGNL
VPLTKSGQHH IFSFFAFKEN RLPLFVKVRD TTQEPCGRLS FMKEPKSTRG LVHQAICNLN
ITLPIYTKES ESDQEQEEEI DMTSEKNPQD EQERIEERLA YIADHLGFSW TELARELDFT
EEQIHQIRIE NPNSLQDQSH ALLKYWLERD GKHATDTNLV ECLTKINRMD IVHLMETNTE
PLQERISHSY AEIEQTITLD HSEGFSVLQE ELCTAQHKQK EEQAVSKESE TCDHPPIVSE
EDISVGYSTF QDGVPKTEGD SSATALFPQN HKEQVQQDFS GKMQDLPEES SLEYQQEYFV
TTPGTETSET QKAMIVPSSP SKTPEEVSTP AEEEKLYLQT PTSSERGGSP IIQEPEEPSE
HREESSPRKT SLVIVESADN QPETCERLDE DAAFEKGDDM PEIPPETVTE EEYIDEHGHT
VVKKVTRKII RRYVSSEGTE KEEIMVQGMP QEPVNIEEGD GYSKVIKRVV LKSDTEQSED
NNE*
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: simple_aae, prob: 0.999999985875276      (explain)
Summary
  • amino acid sequence changed
  • heterozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM041238)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:114288920C>AN/A show variant in all transcripts   IGV
HGNC symbol ANK2
Ensembl transcript ID ENST00000394537
Genbank transcript ID NM_020977
UniProt peptide Q01484
alteration type single base exchange
alteration region CDS
DNA changes c.4976C>A
cDNA.5029C>A
g.549656C>A
AA changes T1659N Score: 65 explain score(s)
position(s) of altered AA
if AA alteration in CDS
1659
frameshift no
known variant Reference ID: rs121912705
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC07575

known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)

known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)
known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3860.013
0.9160.107
(flanking)-0.0640.14
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased549657wt: 0.9512 / mu: 0.9516 (marginal change - not scored)wt: CAAACTCACAAGGAG
mu: CAAAATCACAAGGAG
 AACT|caca
Donor increased549660wt: 0.40 / mu: 0.68wt: ACTCACAAGGAGCAA
mu: AATCACAAGGAGCAA
 TCAC|aagg
Donor increased549650wt: 0.66 / mu: 0.83wt: CTTTCCCCAAACTCA
mu: CTTTCCCCAAAATCA
 TTCC|ccaa
Acc gained5496550.38mu: CAACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAA caaa|ATCA
distance from splice site 88
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1659GDSSATALFPQTHKEQVQQDFSGK
mutated  not conserved    1659GDSSATALFPQNHKEQVQQDFSG
Ptroglodytes  not conserved  ENSPTRG00000016382  1650YLTDDLNTYVPLPKEQLQTVQDKAG
Mmulatta  all identical  ENSMMUG00000008633  1659GDSSATALFPQTHKEQVQQDFSG
Fcatus  all identical  ENSFCAG00000005384  3734ELFPQTHKEQVQQDFSG
Mmusculus  not conserved  ENSMUSG00000032826  786GDSPAAALSPQMHQEPVQQDFSG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000009026  3581GN---------THSESIHGDLME
Dmelanogaster  all identical  FBgn0261788  1583KRLSIERSIPASTQKKEITREITEI
Celegans  not conserved  B0350.2  1719PLNEDEQQKWE---
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
18061817REPEATRepeat A.might get lost (downstream of altered splice site)
18061983REGIONRepeat-rich region.might get lost (downstream of altered splice site)
18181829REPEATRepeat A.might get lost (downstream of altered splice site)
18301841REPEATRepeat A.might get lost (downstream of altered splice site)
18421853REPEATRepeat A.might get lost (downstream of altered splice site)
18541865REPEATRepeat A.might get lost (downstream of altered splice site)
18661877REPEATRepeat A.might get lost (downstream of altered splice site)
18781889REPEATRepeat A.might get lost (downstream of altered splice site)
18901900REPEATRepeat A; approximate.might get lost (downstream of altered splice site)
19011912REPEATRepeat A.might get lost (downstream of altered splice site)
19131924REPEATRepeat A.might get lost (downstream of altered splice site)
19251935REPEATRepeat A; approximate.might get lost (downstream of altered splice site)
19361947REPEATRepeat A.might get lost (downstream of altered splice site)
19481959REPEATRepeat A.might get lost (downstream of altered splice site)
19601971REPEATRepeat A.might get lost (downstream of altered splice site)
19721983REPEATRepeat A.might get lost (downstream of altered splice site)
25832583MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
27872787CONFLICTA -> R (in Ref. 3; CAB42644).might get lost (downstream of altered splice site)
29992999CONFLICTQ -> L (in Ref. 3; CAB42644).might get lost (downstream of altered splice site)
30933093MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
31403141CONFLICTEE -> RY (in Ref. 5; AC093879).might get lost (downstream of altered splice site)
31853185CONFLICTD -> S (in Ref. 3; CAB42644).might get lost (downstream of altered splice site)
32733273MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
33623362MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
33903390MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
34093409MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
34103410MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
35693653DOMAINDeath 2.might get lost (downstream of altered splice site)
35713580HELIXmight get lost (downstream of altered splice site)
35833590HELIXmight get lost (downstream of altered splice site)
35953604HELIXmight get lost (downstream of altered splice site)
36093624HELIXmight get lost (downstream of altered splice site)
36253627HELIXmight get lost (downstream of altered splice site)
36303639HELIXmight get lost (downstream of altered splice site)
36433646HELIXmight get lost (downstream of altered splice site)
36993699CONFLICTV -> A (in Ref. 4; CAD97827).might get lost (downstream of altered splice site)
37353735MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
37373737CONFLICTA -> S (in Ref. 1; CAA40279 and 3; CAB42644).might get lost (downstream of altered splice site)
37763776MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
37933793MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
37953795MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
37973797MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
38023802MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
38033803MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
38233823MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
38443844MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
39553956CONFLICTNN -> SM (in Ref. 5; AC093879).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5619 / 5619
position (AA) of stopcodon in wt / mu AA sequence 1873 / 1873
position of stopcodon in wt / mu cDNA 5672 / 5672
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 54 / 54
chromosome 4
strand 1
last intron/exon boundary 5658
theoretical NMD boundary in CDS 5554
length of CDS 5619
coding sequence (CDS) position 4976
cDNA position
(for ins/del: last normal base / first normal base)
5029
gDNA position
(for ins/del: last normal base / first normal base)
549656
chromosomal position
(for ins/del: last normal base / first normal base)
114288920
original gDNA sequence snippet AACAGCACTCTTTCCCCAAACTCACAAGGAGCAAGTTCAAC
altered gDNA sequence snippet AACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAAC
original cDNA sequence snippet AACAGCACTCTTTCCCCAAACTCACAAGGAGCAAGTTCAAC
altered cDNA sequence snippet AACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAAC
wildtype AA sequence MMNEDAAQKS DSGEKFNGSS QRRKRPKKSD SNASFLRAAR AGNLDKVVEY LKGGIDINTC
NQNGLNALHL AAKEGHVGLV QELLGRGSSV DSATKKGNTA LHIASLAGQA EVVKVLVKEG
ANINAQSQNG FTPLYMAAQE NHIDVVKYLL ENGANQSTAT EDGFTPLAVA LQQGHNQAVA
ILLENDTKGK VRLPALHIAA RKDDTKSAAL LLQNDHNADV QSKMMVNRTT ESGFTPLHIA
AHYGNVNVAT LLLNRGAAVD FTARNGITPL HVASKRGNTN MVKLLLDRGG QIDAKTRDGL
TPLHCAARSG HDQVVELLLE RGAPLLARTK NGLSPLHMAA QGDHVECVKH LLQHKAPVDD
VTLDYLTALH VAAHCGHYRV TKLLLDKRAN PNARALNGFT PLHIACKKNR IKVMELLVKY
GASIQAITES GLTPIHVAAF MGHLNIVLLL LQNGASPDVT NIRGETALHM AARAGQVEVV
RCLLRNGALV DARAREEQTP LHIASRLGKT EIVQLLLQHM AHPDAATTNG YTPLHISARE
GQVDVASVLL EAGAAHSLAT KKGFTPLHVA AKYGSLDVAK LLLQRRAAAD SAGKNGLTPL
HVAAHYDNQK VALLLLEKGA SPHATAKNGY TPLHIAAKKN QMQIASTLLN YGAETNIVTK
QGVTPLHLAS QEGHTDMVTL LLDKGANIHM STKSGLTSLH LAAQEDKVNV ADILTKHGAD
QDAHTKLGYT PLIVACHYGN VKMVNFLLKQ GANVNAKTKN GYTPLHQAAQ QGHTHIINVL
LQHGAKPNAT TANGNTALAI AKRLGYISVV DTLKVVTEEV TTTTTTITEK HKLNVPETMT
EVLDVSDEEG DDTMTGDGGE YLRPEDLKEL GDDSLPSSQF LDGMNYLRYS LEGGRSDSLR
SFSSDRSHTL SHASYLRDSA VMDDSVVIPS HQVSTLAKEA ERNSYRLSWG TENLDNVALS
SSPIHSGFLV SFMVDARGGA MRGCRHNGLR IIIPPRKCTA PTRVTCRLVK RHRLATMPPM
VEGEGLASRL IEVGPSGAQF LGKLHLPTAP PPLNEGESLV SRILQLGPPG TKFLGPVIVE
IPHFAALRGK ERELVVLRSE NGDSWKEHFC DYTEDELNEI LNGMDEVLDS PEDLEKKRIC
RIITRDFPQY FAVVSRIKQD SNLIGPEGGV LSSTVVPQVQ AVFPEGALTK RIRVGLQAQP
MHSELVKKIL GNKATFSPIV TLEPRRRKFH KPITMTIPVP KASSDVMLNG FGGDAPTLRL
LCSITGGTTP AQWEDITGTT PLTFVNECVS FTTNVSARFW LIDCRQIQES VTFASQVYRE
IICVPYMAKF VVFAKSHDPI EARLRCFCMT DDKVDKTLEQ QENFAEVARS RDVEVLEGKP
IYVDCFGNLV PLTKSGQHHI FSFFAFKENR LPLFVKVRDT TQEPCGRLSF MKEPKSTRGL
VHQAICNLNI TLPIYTKESE SDQEQEEEID MTSEKNPQDE QERIEERLAY IADHLGFSWT
ELARELDFTE EQIHQIRIEN PNSLQDQSHA LLKYWLERDG KHATDTNLVE CLTKINRMDI
VHLMETNTEP LQERISHSYA EIEQTITLDH SEGFSVLQEE LCTAQHKQKE EQAVSKESET
CDHPPIVSEE DISVGYSTFQ DGVPKTEGDS SATALFPQTH KEQVQQDFSG KMQDLPEESS
LEYQQEYFVT TPGTETSETQ KAMIVPSSPS KTPEEVSTPA EEEKLYLQTP TSSERGGSPI
IQEPEEPSEH REESSPRKTS LVIVESADNQ PETCERLDED AAFEKGDDMP EIPPETVTEE
EYIDEHGHTV VKKVTRKIIR RYVSSEGTEK EEIMVQGMPQ EPVNIEEGDG YSKVIKRVVL
KSDTEQSEDN NE*
mutated AA sequence MMNEDAAQKS DSGEKFNGSS QRRKRPKKSD SNASFLRAAR AGNLDKVVEY LKGGIDINTC
NQNGLNALHL AAKEGHVGLV QELLGRGSSV DSATKKGNTA LHIASLAGQA EVVKVLVKEG
ANINAQSQNG FTPLYMAAQE NHIDVVKYLL ENGANQSTAT EDGFTPLAVA LQQGHNQAVA
ILLENDTKGK VRLPALHIAA RKDDTKSAAL LLQNDHNADV QSKMMVNRTT ESGFTPLHIA
AHYGNVNVAT LLLNRGAAVD FTARNGITPL HVASKRGNTN MVKLLLDRGG QIDAKTRDGL
TPLHCAARSG HDQVVELLLE RGAPLLARTK NGLSPLHMAA QGDHVECVKH LLQHKAPVDD
VTLDYLTALH VAAHCGHYRV TKLLLDKRAN PNARALNGFT PLHIACKKNR IKVMELLVKY
GASIQAITES GLTPIHVAAF MGHLNIVLLL LQNGASPDVT NIRGETALHM AARAGQVEVV
RCLLRNGALV DARAREEQTP LHIASRLGKT EIVQLLLQHM AHPDAATTNG YTPLHISARE
GQVDVASVLL EAGAAHSLAT KKGFTPLHVA AKYGSLDVAK LLLQRRAAAD SAGKNGLTPL
HVAAHYDNQK VALLLLEKGA SPHATAKNGY TPLHIAAKKN QMQIASTLLN YGAETNIVTK
QGVTPLHLAS QEGHTDMVTL LLDKGANIHM STKSGLTSLH LAAQEDKVNV ADILTKHGAD
QDAHTKLGYT PLIVACHYGN VKMVNFLLKQ GANVNAKTKN GYTPLHQAAQ QGHTHIINVL
LQHGAKPNAT TANGNTALAI AKRLGYISVV DTLKVVTEEV TTTTTTITEK HKLNVPETMT
EVLDVSDEEG DDTMTGDGGE YLRPEDLKEL GDDSLPSSQF LDGMNYLRYS LEGGRSDSLR
SFSSDRSHTL SHASYLRDSA VMDDSVVIPS HQVSTLAKEA ERNSYRLSWG TENLDNVALS
SSPIHSGFLV SFMVDARGGA MRGCRHNGLR IIIPPRKCTA PTRVTCRLVK RHRLATMPPM
VEGEGLASRL IEVGPSGAQF LGKLHLPTAP PPLNEGESLV SRILQLGPPG TKFLGPVIVE
IPHFAALRGK ERELVVLRSE NGDSWKEHFC DYTEDELNEI LNGMDEVLDS PEDLEKKRIC
RIITRDFPQY FAVVSRIKQD SNLIGPEGGV LSSTVVPQVQ AVFPEGALTK RIRVGLQAQP
MHSELVKKIL GNKATFSPIV TLEPRRRKFH KPITMTIPVP KASSDVMLNG FGGDAPTLRL
LCSITGGTTP AQWEDITGTT PLTFVNECVS FTTNVSARFW LIDCRQIQES VTFASQVYRE
IICVPYMAKF VVFAKSHDPI EARLRCFCMT DDKVDKTLEQ QENFAEVARS RDVEVLEGKP
IYVDCFGNLV PLTKSGQHHI FSFFAFKENR LPLFVKVRDT TQEPCGRLSF MKEPKSTRGL
VHQAICNLNI TLPIYTKESE SDQEQEEEID MTSEKNPQDE QERIEERLAY IADHLGFSWT
ELARELDFTE EQIHQIRIEN PNSLQDQSHA LLKYWLERDG KHATDTNLVE CLTKINRMDI
VHLMETNTEP LQERISHSYA EIEQTITLDH SEGFSVLQEE LCTAQHKQKE EQAVSKESET
CDHPPIVSEE DISVGYSTFQ DGVPKTEGDS SATALFPQNH KEQVQQDFSG KMQDLPEESS
LEYQQEYFVT TPGTETSETQ KAMIVPSSPS KTPEEVSTPA EEEKLYLQTP TSSERGGSPI
IQEPEEPSEH REESSPRKTS LVIVESADNQ PETCERLDED AAFEKGDDMP EIPPETVTEE
EYIDEHGHTV VKKVTRKIIR RYVSSEGTEK EEIMVQGMPQ EPVNIEEGDG YSKVIKRVVL
KSDTEQSEDN NE*
speed 1.41 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: 0.999999985875276      (explain)
Summary
  • amino acid sequence changed
  • heterozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM041238)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:114288920C>AN/A show variant in all transcripts   IGV
HGNC symbol ANK2
Ensembl transcript ID ENST00000509550
Genbank transcript ID N/A
UniProt peptide Q01484
alteration type single base exchange
alteration region CDS
DNA changes c.2504C>A
cDNA.2819C>A
g.549656C>A
AA changes T835N Score: 65 explain score(s)
position(s) of altered AA
if AA alteration in CDS
835
frameshift no
known variant Reference ID: rs121912705
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC07575

known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)

known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)
known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3860.013
0.9160.107
(flanking)-0.0640.14
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased549657wt: 0.9512 / mu: 0.9516 (marginal change - not scored)wt: CAAACTCACAAGGAG
mu: CAAAATCACAAGGAG
 AACT|caca
Donor increased549660wt: 0.40 / mu: 0.68wt: ACTCACAAGGAGCAA
mu: AATCACAAGGAGCAA
 TCAC|aagg
Donor increased549650wt: 0.66 / mu: 0.83wt: CTTTCCCCAAACTCA
mu: CTTTCCCCAAAATCA
 TTCC|ccaa
Acc gained5496550.38mu: CAACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAA caaa|ATCA
distance from splice site 88
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      835GDSSATALFPQTHKEQVQQDFSGK
mutated  not conserved    835GDSSATALFPQNHKEQV
Ptroglodytes  not conserved  ENSPTRG00000016382  1650YLTDDLNTYVPLPKEQLQTVQDKAG
Mmulatta  all identical  ENSMMUG00000008633  1659GDSSATALFPQTHKEQVQQDFSG
Fcatus  all identical  ENSFCAG00000005384  3734ELFPQTHKEQVQQDFSG
Mmusculus  not conserved  ENSMUSG00000032826  786AAALSPQMHQEPVQQDFSG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000009026  3581GN---------THSESIHGDLME
Dmelanogaster  all identical  FBgn0261788  1583KRLSIERSIPASTQKKEITREITEI
Celegans  not conserved  B0350.2  1721NIVDRTV--PLNEDEQQKWE---
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
846846MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
898898MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
911911MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
9661124DOMAINZU5 1.might get lost (downstream of altered splice site)
9661125REGIONInteraction with SPTBN1.might get lost (downstream of altered splice site)
969974STRANDmight get lost (downstream of altered splice site)
975977MUTAGENDAR->AAA: Prevents binding to SPTBN1.might get lost (downstream of altered splice site)
979982STRANDmight get lost (downstream of altered splice site)
984986STRANDmight get lost (downstream of altered splice site)
990993STRANDmight get lost (downstream of altered splice site)
10001000MUTAGENA->P: Prevents binding to SPTBN1.might get lost (downstream of altered splice site)
10021009STRANDmight get lost (downstream of altered splice site)
10251028STRANDmight get lost (downstream of altered splice site)
10311035STRANDmight get lost (downstream of altered splice site)
10731082STRANDmight get lost (downstream of altered splice site)
10881091TURNmight get lost (downstream of altered splice site)
10921103STRANDmight get lost (downstream of altered splice site)
11001103MUTAGENENGD->AAGA: Weak binding to SPTBN1.might get lost (downstream of altered splice site)
11251288DOMAINZU5 2.might get lost (downstream of altered splice site)
11311137HELIXmight get lost (downstream of altered splice site)
11391146STRANDmight get lost (downstream of altered splice site)
11491157STRANDmight get lost (downstream of altered splice site)
11591165STRANDmight get lost (downstream of altered splice site)
11681172STRANDmight get lost (downstream of altered splice site)
11741176STRANDmight get lost (downstream of altered splice site)
11801183STRANDmight get lost (downstream of altered splice site)
11921199STRANDmight get lost (downstream of altered splice site)
12031210HELIXmight get lost (downstream of altered splice site)
12131216STRANDmight get lost (downstream of altered splice site)
12191226STRANDmight get lost (downstream of altered splice site)
12281238STRANDmight get lost (downstream of altered splice site)
12581263STRANDmight get lost (downstream of altered splice site)
12771279HELIXmight get lost (downstream of altered splice site)
12831285STRANDmight get lost (downstream of altered splice site)
12881295STRANDmight get lost (downstream of altered splice site)
12891423REGIONUPA domain.might get lost (downstream of altered splice site)
12981305STRANDmight get lost (downstream of altered splice site)
13071309HELIXmight get lost (downstream of altered splice site)
13101321HELIXmight get lost (downstream of altered splice site)
13251335STRANDmight get lost (downstream of altered splice site)
13381349STRANDmight get lost (downstream of altered splice site)
13571359HELIXmight get lost (downstream of altered splice site)
13651369STRANDmight get lost (downstream of altered splice site)
13731376STRANDmight get lost (downstream of altered splice site)
13801391STRANDmight get lost (downstream of altered splice site)
13821382MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
13991402STRANDmight get lost (downstream of altered splice site)
14101418STRANDmight get lost (downstream of altered splice site)
14241432STRANDmight get lost (downstream of altered splice site)
14451451STRANDmight get lost (downstream of altered splice site)
14501535DOMAINDeath 1.might get lost (downstream of altered splice site)
14611461MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
15081508MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15231523MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
18061817REPEATRepeat A.might get lost (downstream of altered splice site)
18061983REGIONRepeat-rich region.might get lost (downstream of altered splice site)
18181829REPEATRepeat A.might get lost (downstream of altered splice site)
18301841REPEATRepeat A.might get lost (downstream of altered splice site)
18421853REPEATRepeat A.might get lost (downstream of altered splice site)
18541865REPEATRepeat A.might get lost (downstream of altered splice site)
18661877REPEATRepeat A.might get lost (downstream of altered splice site)
18781889REPEATRepeat A.might get lost (downstream of altered splice site)
18901900REPEATRepeat A; approximate.might get lost (downstream of altered splice site)
19011912REPEATRepeat A.might get lost (downstream of altered splice site)
19131924REPEATRepeat A.might get lost (downstream of altered splice site)
19251935REPEATRepeat A; approximate.might get lost (downstream of altered splice site)
19361947REPEATRepeat A.might get lost (downstream of altered splice site)
19481959REPEATRepeat A.might get lost (downstream of altered splice site)
19601971REPEATRepeat A.might get lost (downstream of altered splice site)
19721983REPEATRepeat A.might get lost (downstream of altered splice site)
25832583MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
27872787CONFLICTA -> R (in Ref. 3; CAB42644).might get lost (downstream of altered splice site)
29992999CONFLICTQ -> L (in Ref. 3; CAB42644).might get lost (downstream of altered splice site)
30933093MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
31403141CONFLICTEE -> RY (in Ref. 5; AC093879).might get lost (downstream of altered splice site)
31853185CONFLICTD -> S (in Ref. 3; CAB42644).might get lost (downstream of altered splice site)
32733273MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
33623362MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
33903390MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
34093409MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
34103410MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
35693653DOMAINDeath 2.might get lost (downstream of altered splice site)
35713580HELIXmight get lost (downstream of altered splice site)
35833590HELIXmight get lost (downstream of altered splice site)
35953604HELIXmight get lost (downstream of altered splice site)
36093624HELIXmight get lost (downstream of altered splice site)
36253627HELIXmight get lost (downstream of altered splice site)
36303639HELIXmight get lost (downstream of altered splice site)
36433646HELIXmight get lost (downstream of altered splice site)
36993699CONFLICTV -> A (in Ref. 4; CAD97827).might get lost (downstream of altered splice site)
37353735MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
37373737CONFLICTA -> S (in Ref. 1; CAA40279 and 3; CAB42644).might get lost (downstream of altered splice site)
37763776MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
37933793MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
37953795MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
37973797MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
38023802MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
38033803MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
38233823MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
38443844MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
39553956CONFLICTNN -> SM (in Ref. 5; AC093879).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3147 / 3147
position (AA) of stopcodon in wt / mu AA sequence 1049 / 1049
position of stopcodon in wt / mu cDNA 3462 / 3462
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 316 / 316
chromosome 4
strand 1
last intron/exon boundary 3448
theoretical NMD boundary in CDS 3082
length of CDS 3147
coding sequence (CDS) position 2504
cDNA position
(for ins/del: last normal base / first normal base)
2819
gDNA position
(for ins/del: last normal base / first normal base)
549656
chromosomal position
(for ins/del: last normal base / first normal base)
114288920
original gDNA sequence snippet AACAGCACTCTTTCCCCAAACTCACAAGGAGCAAGTTCAAC
altered gDNA sequence snippet AACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAAC
original cDNA sequence snippet AACAGCACTCTTTCCCCAAACTCACAAGGAGCAAGTTCAAC
altered cDNA sequence snippet AACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAAC
wildtype AA sequence MNGNTALAIA KRLGYISVVD TLKVVTEEVT TTTTTITEKH KLNVPETMTE VLDVSDEEGD
DTMTGDGGEY LRPEDLKELG DDSLPSSQFL DGMNYLRYSL EGGRSDSLRS FSSDRSHTLS
HASYLRDSAV MDDSVVIPSH QVSTLAKEAE RNSYRLSWGT ENLDNVALSS SPIHSGFLVS
FMVDARGGAM RGCRHNGLRI IIPPRKCTAP TRVTCRLVKR HRLATMPPMV EGEGLASRLI
EVGPSGAQFL GPVIVEIPHF AALRGKEREL VVLRSENGDS WKEHFCDYTE DELNEILNGM
DEVLDSPEDL EKKRICRIIT RDFPQYFAVV SRIKQDSNLI GPEGGVLSST VVPQVQAVFP
EGALTKRIRV GLQAQPMHSE LVKKILGNKA TFSPIVTLEP RRRKFHKPIT MTIPVPKASS
DVMLNGFGGD APTLRLLCSI TGGTTPAQWE DITGTTPLTF VNECVSFTTN VSARFWLIDC
RQIQESVTFA SQVYREIICV PYMAKFVVFA KSHDPIEARL RCFCMTDDKV DKTLEQQENF
AEVARSRDVE VLEGKPIYVD CFGNLVPLTK SGQHHIFSFF AFKENRLPLF VKVRDTTQEP
CGRLSFMKEP KSTRGLVHQA ICNLNITLPI YTKESESDQE QEEEIDMTSE KNPQDEQERI
EERLAYIADH LGFSWTELAR ELDFTEEQIH QIRIENPNSL QDQSHALLKY WLERDGKHAT
DTNLVECLTK INRMDIVHLM ETNTEPLQER ISHSYAEIEQ TITLDHSEGF SVLQEELCTA
QHKQKEEQAV SKESETCDHP PIVSEEDISV GYSTFQDGVP KTEGDSSATA LFPQTHKEQV
QQDFSGKMQD LPEESSLEYQ QEYFVTTPGT ETSETQKAMI VPSSPSKTPE EVSTPAEEEK
LYLQTPTSSE RGGSPIIQEP EEPSEHREES SPRKTSLVIV ESADNQPETC ERLDEDAAFE
KGDDMPEIPP ETVTEEEYID EHGHTVVKKV TRKIIRRYVS SEGTEKEEIM VQGMPQEPVN
IEEGDGYSKV IKRVVLKSDT EQSEDNNE*
mutated AA sequence MNGNTALAIA KRLGYISVVD TLKVVTEEVT TTTTTITEKH KLNVPETMTE VLDVSDEEGD
DTMTGDGGEY LRPEDLKELG DDSLPSSQFL DGMNYLRYSL EGGRSDSLRS FSSDRSHTLS
HASYLRDSAV MDDSVVIPSH QVSTLAKEAE RNSYRLSWGT ENLDNVALSS SPIHSGFLVS
FMVDARGGAM RGCRHNGLRI IIPPRKCTAP TRVTCRLVKR HRLATMPPMV EGEGLASRLI
EVGPSGAQFL GPVIVEIPHF AALRGKEREL VVLRSENGDS WKEHFCDYTE DELNEILNGM
DEVLDSPEDL EKKRICRIIT RDFPQYFAVV SRIKQDSNLI GPEGGVLSST VVPQVQAVFP
EGALTKRIRV GLQAQPMHSE LVKKILGNKA TFSPIVTLEP RRRKFHKPIT MTIPVPKASS
DVMLNGFGGD APTLRLLCSI TGGTTPAQWE DITGTTPLTF VNECVSFTTN VSARFWLIDC
RQIQESVTFA SQVYREIICV PYMAKFVVFA KSHDPIEARL RCFCMTDDKV DKTLEQQENF
AEVARSRDVE VLEGKPIYVD CFGNLVPLTK SGQHHIFSFF AFKENRLPLF VKVRDTTQEP
CGRLSFMKEP KSTRGLVHQA ICNLNITLPI YTKESESDQE QEEEIDMTSE KNPQDEQERI
EERLAYIADH LGFSWTELAR ELDFTEEQIH QIRIENPNSL QDQSHALLKY WLERDGKHAT
DTNLVECLTK INRMDIVHLM ETNTEPLQER ISHSYAEIEQ TITLDHSEGF SVLQEELCTA
QHKQKEEQAV SKESETCDHP PIVSEEDISV GYSTFQDGVP KTEGDSSATA LFPQNHKEQV
QQDFSGKMQD LPEESSLEYQ QEYFVTTPGT ETSETQKAMI VPSSPSKTPE EVSTPAEEEK
LYLQTPTSSE RGGSPIIQEP EEPSEHREES SPRKTSLVIV ESADNQPETC ERLDEDAAFE
KGDDMPEIPP ETVTEEEYID EHGHTVVKKV TRKIIRRYVS SEGTEKEEIM VQGMPQEPVN
IEEGDGYSKV IKRVVLKSDT EQSEDNNE*
speed 1.68 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: 0.999999962258077      (explain)
Summary
  • amino acid sequence changed
  • heterozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM041238)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:114288920C>AN/A show variant in all transcripts   IGV
HGNC symbol ANK2
Ensembl transcript ID ENST00000510275
Genbank transcript ID N/A
UniProt peptide Q01484
alteration type single base exchange
alteration region CDS
DNA changes c.932C>A
cDNA.938C>A
g.549656C>A
AA changes T311N Score: 65 explain score(s)
position(s) of altered AA
if AA alteration in CDS
311
frameshift no
known variant Reference ID: rs121912705
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC07575

known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)

known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)
known disease mutation at this position, please check HGMD for details (HGMD ID CM041238)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3860.013
0.9160.107
(flanking)-0.0640.14
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased549657wt: 0.9512 / mu: 0.9516 (marginal change - not scored)wt: CAAACTCACAAGGAG
mu: CAAAATCACAAGGAG
 AACT|caca
Donor increased549660wt: 0.40 / mu: 0.68wt: ACTCACAAGGAGCAA
mu: AATCACAAGGAGCAA
 TCAC|aagg
Donor increased549650wt: 0.66 / mu: 0.83wt: CTTTCCCCAAACTCA
mu: CTTTCCCCAAAATCA
 TTCC|ccaa
Acc gained5496550.38mu: CAACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAA caaa|ATCA
distance from splice site 88
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      311GDSSATALFPQTHKEQVQQDFSGK
mutated  not conserved    311DSSATALFPQNHKEQVQQDFSG
Ptroglodytes  all identical  ENSPTRG00000016382  3744GDSSATALFPQTHKEQ
Mmulatta  all identical  ENSMMUG00000008633  1659DSSATALFPQTHKEQVQQDFSG
Fcatus  all identical  ENSFCAG00000005384  3734ELFPQTHKEQVQQDFSG
Mmusculus  not conserved  ENSMUSG00000032826  786DSPAAALSPQMHQEPVQQDFSG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000009026  1688KHRPAEIKKPARKKRKEREFASG
Dmelanogaster  all identical  FBgn0261788  1583KRLSIERSIPASTQKKEITREITEI
Celegans  not conserved  B0350.2  1721TV--PLNEDEQQKWE---
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
298327REPEATANK 9.lost
331360REPEATANK 10.might get lost (downstream of altered splice site)
364393REPEATANK 11.might get lost (downstream of altered splice site)
378378MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
397426REPEATANK 12.might get lost (downstream of altered splice site)
430459REPEATANK 13.might get lost (downstream of altered splice site)
463492REPEATANK 14.might get lost (downstream of altered splice site)
475476CONFLICTGQ -> PE (in Ref. 7; AAA62828).might get lost (downstream of altered splice site)
496525REPEATANK 15.might get lost (downstream of altered splice site)
529558REPEATANK 16.might get lost (downstream of altered splice site)
531531MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
562591REPEATANK 17.might get lost (downstream of altered splice site)
595624REPEATANK 18.might get lost (downstream of altered splice site)
628657REPEATANK 19.might get lost (downstream of altered splice site)
661690REPEATANK 20.might get lost (downstream of altered splice site)
694723REPEATANK 21.might get lost (downstream of altered splice site)
727756REPEATANK 22.might get lost (downstream of altered splice site)
760789REPEATANK 23.might get lost (downstream of altered splice site)
793822REPEATANK 24.might get lost (downstream of altered splice site)
846846MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
898898MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
911911MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
9661124DOMAINZU5 1.might get lost (downstream of altered splice site)
9661125REGIONInteraction with SPTBN1.might get lost (downstream of altered splice site)
969974STRANDmight get lost (downstream of altered splice site)
975977MUTAGENDAR->AAA: Prevents binding to SPTBN1.might get lost (downstream of altered splice site)
979982STRANDmight get lost (downstream of altered splice site)
984986STRANDmight get lost (downstream of altered splice site)
990993STRANDmight get lost (downstream of altered splice site)
10001000MUTAGENA->P: Prevents binding to SPTBN1.might get lost (downstream of altered splice site)
10021009STRANDmight get lost (downstream of altered splice site)
10251028STRANDmight get lost (downstream of altered splice site)
10311035STRANDmight get lost (downstream of altered splice site)
10731082STRANDmight get lost (downstream of altered splice site)
10881091TURNmight get lost (downstream of altered splice site)
10921103STRANDmight get lost (downstream of altered splice site)
11001103MUTAGENENGD->AAGA: Weak binding to SPTBN1.might get lost (downstream of altered splice site)
11251288DOMAINZU5 2.might get lost (downstream of altered splice site)
11311137HELIXmight get lost (downstream of altered splice site)
11391146STRANDmight get lost (downstream of altered splice site)
11491157STRANDmight get lost (downstream of altered splice site)
11591165STRANDmight get lost (downstream of altered splice site)
11681172STRANDmight get lost (downstream of altered splice site)
11741176STRANDmight get lost (downstream of altered splice site)
11801183STRANDmight get lost (downstream of altered splice site)
11921199STRANDmight get lost (downstream of altered splice site)
12031210HELIXmight get lost (downstream of altered splice site)
12131216STRANDmight get lost (downstream of altered splice site)
12191226STRANDmight get lost (downstream of altered splice site)
12281238STRANDmight get lost (downstream of altered splice site)
12581263STRANDmight get lost (downstream of altered splice site)
12771279HELIXmight get lost (downstream of altered splice site)
12831285STRANDmight get lost (downstream of altered splice site)
12881295STRANDmight get lost (downstream of altered splice site)
12891423REGIONUPA domain.might get lost (downstream of altered splice site)
12981305STRANDmight get lost (downstream of altered splice site)
13071309HELIXmight get lost (downstream of altered splice site)
13101321HELIXmight get lost (downstream of altered splice site)
13251335STRANDmight get lost (downstream of altered splice site)
13381349STRANDmight get lost (downstream of altered splice site)
13571359HELIXmight get lost (downstream of altered splice site)
13651369STRANDmight get lost (downstream of altered splice site)
13731376STRANDmight get lost (downstream of altered splice site)
13801391STRANDmight get lost (downstream of altered splice site)
13821382MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
13991402STRANDmight get lost (downstream of altered splice site)
14101418STRANDmight get lost (downstream of altered splice site)
14241432STRANDmight get lost (downstream of altered splice site)
14451451STRANDmight get lost (downstream of altered splice site)
14501535DOMAINDeath 1.might get lost (downstream of altered splice site)
14611461MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
15081508MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15231523MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
18061817REPEATRepeat A.might get lost (downstream of altered splice site)
18061983REGIONRepeat-rich region.might get lost (downstream of altered splice site)
18181829REPEATRepeat A.might get lost (downstream of altered splice site)
18301841REPEATRepeat A.might get lost (downstream of altered splice site)
18421853REPEATRepeat A.might get lost (downstream of altered splice site)
18541865REPEATRepeat A.might get lost (downstream of altered splice site)
18661877REPEATRepeat A.might get lost (downstream of altered splice site)
18781889REPEATRepeat A.might get lost (downstream of altered splice site)
18901900REPEATRepeat A; approximate.might get lost (downstream of altered splice site)
19011912REPEATRepeat A.might get lost (downstream of altered splice site)
19131924REPEATRepeat A.might get lost (downstream of altered splice site)
19251935REPEATRepeat A; approximate.might get lost (downstream of altered splice site)
19361947REPEATRepeat A.might get lost (downstream of altered splice site)
19481959REPEATRepeat A.might get lost (downstream of altered splice site)
19601971REPEATRepeat A.might get lost (downstream of altered splice site)
19721983REPEATRepeat A.might get lost (downstream of altered splice site)
25832583MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
27872787CONFLICTA -> R (in Ref. 3; CAB42644).might get lost (downstream of altered splice site)
29992999CONFLICTQ -> L (in Ref. 3; CAB42644).might get lost (downstream of altered splice site)
30933093MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
31403141CONFLICTEE -> RY (in Ref. 5; AC093879).might get lost (downstream of altered splice site)
31853185CONFLICTD -> S (in Ref. 3; CAB42644).might get lost (downstream of altered splice site)
32733273MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
33623362MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
33903390MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
34093409MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
34103410MOD_RESPhosphotyrosine (By similarity).might get lost (downstream of altered splice site)
35693653DOMAINDeath 2.might get lost (downstream of altered splice site)
35713580HELIXmight get lost (downstream of altered splice site)
35833590HELIXmight get lost (downstream of altered splice site)
35953604HELIXmight get lost (downstream of altered splice site)
36093624HELIXmight get lost (downstream of altered splice site)
36253627HELIXmight get lost (downstream of altered splice site)
36303639HELIXmight get lost (downstream of altered splice site)
36433646HELIXmight get lost (downstream of altered splice site)
36993699CONFLICTV -> A (in Ref. 4; CAD97827).might get lost (downstream of altered splice site)
37353735MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
37373737CONFLICTA -> S (in Ref. 1; CAA40279 and 3; CAB42644).might get lost (downstream of altered splice site)
37763776MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
37933793MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
37953795MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
37973797MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
38023802MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
38033803MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
38233823MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
38443844MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
39553956CONFLICTNN -> SM (in Ref. 5; AC093879).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1668 / 1668
position (AA) of stopcodon in wt / mu AA sequence 556 / 556
position of stopcodon in wt / mu cDNA 1674 / 1674
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 7 / 7
chromosome 4
strand 1
last intron/exon boundary 1660
theoretical NMD boundary in CDS 1603
length of CDS 1668
coding sequence (CDS) position 932
cDNA position
(for ins/del: last normal base / first normal base)
938
gDNA position
(for ins/del: last normal base / first normal base)
549656
chromosomal position
(for ins/del: last normal base / first normal base)
114288920
original gDNA sequence snippet AACAGCACTCTTTCCCCAAACTCACAAGGAGCAAGTTCAAC
altered gDNA sequence snippet AACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAAC
original cDNA sequence snippet AACAGCACTCTTTCCCCAAACTCACAAGGAGCAAGTTCAAC
altered cDNA sequence snippet AACAGCACTCTTTCCCCAAAATCACAAGGAGCAAGTTCAAC
wildtype AA sequence MTDDKVDKTL EQQENFAEVA RSRDVEVLEG KPIYVDCFGN LVPLTKSGQH HIFSFFAFKE
NRLPLFVKVR DTTQEPCGRL SFMKEPKSTR GLVHQAICNL NITLPIYTKE SESDQEQEEE
IDMTSEKNPQ DEQERIEERL AYIADHLGFS WTELARELDF TEEQIHQIRI ENPNSLQDQS
HALLKYWLER DGKHATDTNL VECLTKINRM DIVHLMETNT EPLQERISHS YAEIEQTITL
DHSEGFSVLQ EELCTAQHKQ KEEQAVSKES ETCDHPPIVS EEDISVGYST FQDGVPKTEG
DSSATALFPQ THKEQVQQDF SGKMQDLPEE SSLEYQQEYF VTTPGTETSE TQKAMIVPSS
PSKTPEEVST PAEEEKLYLQ TPTSSERGGS PIIQEPEEPS EHREESSPRK TSLVIVESAD
NQPETCERLD EDAAFEKELT EELGELEASS DEEAMVTTRV VRRRVIIQGD DMPEIPPETV
TEEEYIDEHG HTVVKKVTRK IIRRYVSSEG TEKEEIMVQG MPQEPVNIEE GDGYSKVIKR
VVLKSDTEQS EDNNE*
mutated AA sequence MTDDKVDKTL EQQENFAEVA RSRDVEVLEG KPIYVDCFGN LVPLTKSGQH HIFSFFAFKE
NRLPLFVKVR DTTQEPCGRL SFMKEPKSTR GLVHQAICNL NITLPIYTKE SESDQEQEEE
IDMTSEKNPQ DEQERIEERL AYIADHLGFS WTELARELDF TEEQIHQIRI ENPNSLQDQS
HALLKYWLER DGKHATDTNL VECLTKINRM DIVHLMETNT EPLQERISHS YAEIEQTITL
DHSEGFSVLQ EELCTAQHKQ KEEQAVSKES ETCDHPPIVS EEDISVGYST FQDGVPKTEG
DSSATALFPQ NHKEQVQQDF SGKMQDLPEE SSLEYQQEYF VTTPGTETSE TQKAMIVPSS
PSKTPEEVST PAEEEKLYLQ TPTSSERGGS PIIQEPEEPS EHREESSPRK TSLVIVESAD
NQPETCERLD EDAAFEKELT EELGELEASS DEEAMVTTRV VRRRVIIQGD DMPEIPPETV
TEEEYIDEHG HTVVKKVTRK IIRRYVSSEG TEKEEIMVQG MPQEPVNIEE GDGYSKVIKR
VVLKSDTEQS EDNNE*
speed 0.67 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