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 increased549650wt: 0.66 / mu: 0.83wt: CTTTCCCCAAACTCA
mu: CTTTCCCCAAAATCA		 TTCC|ccaa
Donor increased549660wt: 0.40 / mu: 0.68wt: ACTCACAAGGAGCAA
mu: AATCACAAGGAGCAA		 TCAC|aagg
Donor marginally increased549657wt: 0.9512 / mu: 0.9516 (marginal change - not scored)wt: CAAACTCACAAGGAG
mu: CAAAATCACAAGGAG		 AACT|caca
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 0.46 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