Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999914176094274 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:40903684A>GN/A show variant in all transcripts   IGV
HGNC symbol KNL1
Ensembl transcript ID ENST00000346991
Genbank transcript ID NM_170589
UniProt peptide Q8NG31
alteration type single base exchange
alteration region CDS
DNA changes c.337A>G
cDNA.727A>G
g.17467A>G
AA changes T113A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 113
frameshift no
known variant Reference ID: rs12911738
databasehomozygous (G/G)heterozygousallele carriers
1000G13687962164
ExAC332116875008
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0420.998
1.1820.999
(flanking)1.1370.998
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased17460wt: 0.35 / mu: 0.46wt: ATTTTAATTTTATTTTTAGAAACAGAAACAGGAGAAAATCT
mu: ATTTTAATTTTATTTTTAGAAACAGAAGCAGGAGAAAATCT		 agaa|ACAG
Acc marginally increased17457wt: 0.9416 / mu: 0.9627 (marginal change - not scored)wt: TTAATTTTAATTTTATTTTTAGAAACAGAAACAGGAGAAAA
mu: TTAATTTTAATTTTATTTTTAGAAACAGAAGCAGGAGAAAA		 ttta|GAAA
Acc marginally decreased17458wt: 0.9498 / mu: 0.9437 (marginal change - not scored)wt: TAATTTTAATTTTATTTTTAGAAACAGAAACAGGAGAAAAT
mu: TAATTTTAATTTTATTTTTAGAAACAGAAGCAGGAGAAAAT		 ttag|AAAC
Acc increased17459wt: 0.67 / mu: 0.78wt: AATTTTAATTTTATTTTTAGAAACAGAAACAGGAGAAAATC
mu: AATTTTAATTTTATTTTTAGAAACAGAAGCAGGAGAAAATC		 taga|AACA
Donor increased17461wt: 0.70 / mu: 0.99wt: TAGAAACAGAAACAG
mu: TAGAAACAGAAGCAG		 GAAA|caga
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      113RFSCLSLPETETGENLLLIQNKKL
mutated  not conserved    113RFSCLSLPETEAGENLLLI
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000027326  113-------------------
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000013401  n/a
Drerio  not conserved  ENSDARG00000070239  110--SIQNLHEERPDEKIL----RF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1728REGIONInteraction with BUB1 and BUB1B.lost
205211HELIXmight get lost (downstream of altered splice site)
241250HELIXmight get lost (downstream of altered splice site)
505505MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
513513MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
539539MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
578578MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
601601MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
682682MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
765765MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
767767MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
8551201REGION2 X 104 AA approximate repeats.might get lost (downstream of altered splice site)
885989REPEAT1.might get lost (downstream of altered splice site)
954954MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
956956MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10391039MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10421042MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
10761076MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
10991201REPEAT2.might get lost (downstream of altered splice site)
12321232MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
13321332CONFLICTP -> A (in Ref. 2; BAC05691).might get lost (downstream of altered splice site)
13571357CONFLICTN -> H (in Ref. 2; BAC05691).might get lost (downstream of altered splice site)
17201720MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17561756CONFLICTN -> Y (in Ref. 2; BAC05691).might get lost (downstream of altered splice site)
17731773MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
17891803MOTIFNuclear localization signal (Potential).might get lost (downstream of altered splice site)
18181819SITEBreakpoint for translocation to form MLL- CASC5.might get lost (downstream of altered splice site)
18342316REGIONNecessary for kinetochore localization and for interaction with NSL1 and DSN1.might get lost (downstream of altered splice site)
18451845MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18691869MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
18791879MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
19422133COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 7029 / 7029
position (AA) of stopcodon in wt / mu AA sequence 2343 / 2343
position of stopcodon in wt / mu cDNA 7419 / 7419
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 391 / 391
chromosome 15
strand 1
last intron/exon boundary 7305
theoretical NMD boundary in CDS 6864
length of CDS 7029
coding sequence (CDS) position 337
cDNA position
(for ins/del: last normal base / first normal base)		 727
gDNA position
(for ins/del: last normal base / first normal base)		 17467
chromosomal position
(for ins/del: last normal base / first normal base)		 40903684
original gDNA sequence snippet TTTTATTTTTAGAAACAGAAACAGGAGAAAATCTTCTTTTG
altered gDNA sequence snippet TTTTATTTTTAGAAACAGAAGCAGGAGAAAATCTTCTTTTG
original cDNA sequence snippet TCAGCCTCCCAGAAACAGAAACAGGAGAAAATCTTCTTTTG
altered cDNA sequence snippet TCAGCCTCCCAGAAACAGAAGCAGGAGAAAATCTTCTTTTG
wildtype AA sequence MDGVSSEANE ENDNIERPVR RRHSSILKPP RSPLQDLRGG NERVQESNAL RNKKNSRRVS
FADTIKVFQT ESHMKIVRKS EMEGCSAMVP SQLQLLPPGF KRFSCLSLPE TETGENLLLI
QNKKLEDNYC EITGMNTLLS APIHTQMQQK EFSIIEHTRE RKHANDQTVI FSDENQMDLT
SSHTVMITKG LLDNPISEKS TKIDTTSFLA NLKLHTEDSR MKKEVNFSVD QNTSSENKID
FNDFIKRLKT GKCSAFPDVP DKENFEIPIY SKEPNSASST HQMHVSLKED ENNSNITRLF
REKDDGMNFT QCHTANIQTL IPTSSETNSR ESKGNDITIY GNDFMDLTFN HTLQILPATG
NFSEIENQTQ NAMDVTTGYG TKASGNKTVF KSKQNTAFQD LSINSADKIH ITRSHIMGAE
THIVSQTCNQ DARILAMTPE SIYSNPSIQG CKTVFYSSCN DAMEMTKCLS NMREEKNLLK
HDSNYAKMYC NPDAMSSLTE KTIYSGEENM DITKSHTVAI DNQIFKQDQS NVQIAAAPTP
EKEMMLQNLM TTSEDGKMNV NCNSVPHVSK ERIQQSLSNP LSISLTDRKT ELLSGENMDL
TESHTSNLGS QVPLAAYNLA PESTSESHSQ SKSSSDECEE ITKSRNEPFQ RSDIIAKNSL
TDTWNKDKDW VLKILPYLDK DSPQSADCNQ EIATSHNIVY CGGVLDKQIT NRNTVSWEQS
LFSTTKPLFS SGQFSMKNHD TAISSHTVKS VLGQNSKLAE PLRKSLSNPT PDYCHDKMII
CSEEEQNMDL TKSHTVVIGF GPSELQELGK TNLEHTTGQL TTMNRQIAVK VEKCGKSPIE
KSGVLKSNCI MDVLEDESVQ KPKFPKEKQN VKIWGRKSVG GPKIDKTIVF SEDDKNDMDI
TKSYTIEINH RPLLEKRDCH LVPLAGTSET ILYTCRQDDM EITRSHTTAL ECKTVSPDEI
TTRPMDKTVV FVDNHVELEM TESHTVFIDY QEKERTDRPN FELSQRKSLG TPTVICTPTE
ESVFFPGNGE SDRLVANDSQ LTPLEEWSNN RGPVEVADNM ELSKSATCKN IKDVQSPGFL
NEPLSSKSQR RKSLKLKNDK TIVFSENHKN DMDITQSCMV EIDNESALED KEDFHLAGAS
KTILYSCGQD DMEITRSHTT ALECKTLLPN EIAIRPMDKT VLFTDNYSDL EVTDSHTVFI
DCQATEKILE ENPKFGIGKG KNLGVSFPKD NSCVQEIAEK QALAVGNKIV LHTEQKQQLF
AATNRTTNEI IKFHSAAMDE KVIGKVVDQA CTLEKAQVES CQLNNRDRRN VDFTSSHATA
VCGSSDNYSC LPNVISCTDN LEGSAMLLCD KDEEKANYCP VQNDLAYAND FASEYYLESE
GQPLSAPCPL LEKEEVIQTS TKGQLDCVIT LHKDQDLIKD PRNLLANQTL VYSQDLGEMT
KLNSKRVSFK LPKDQMKVYV DDIYVIPQPH FSTDQPPLPK KGQSSINKEE VILSKAGNKS
LNIIENSSAP ICENKPKILN SEEWFAAACK KELKENIQTT NYNTALDFHS NSDVTKQVIQ
THVNAGEAPD PVITSNVPCF HSIKPNLNNL NGKTGEFLAF QTVHLPPLPE QLLELGNKAH
NDMHIVQATE IHNINIISSN AKDSRDEENK KSHNGAETTS LPPKTVFKDK VRRCSLGIFL
PRLPNKRNCS VTGIDDLEQI PADTTDINHL ETQPVSSKDS GIGSVAGKLN LSPSQYINEE
NLPVYPDEIN SSDSINIETE EKALIETYQK EISPYENKMG KTCNSQKRTW VQEEEDIHKE
KKIRKNEIKF SDTTQDREIF DHHTEEDIDK SANSVLIKNL SRTPSSCSSS LDSIKADGTS
LDFSTYRSSQ MESQFLRDTI CEESLREKLQ DGRITIREFF ILLQVHILIQ KPRQSNLPGN
FTVNTPPTPE DLMLSQYVYR PKIQIYREDC EARRQKIEEL KLSASNQDKL LVDINKNLWE
KMRHCSDKEL KAFGIYLNKI KSCFTKMTKV FTHQGKVALY GKLVQSAQNE REKLQIKIDE
MDKILKKIDN CLTEMETETK NLEDEEKNNP VEEWDSEMRA AEKELEQLKT EEEELQRNLL
ELEVQKEQTL AQIDFMQKQR NRTEELLDQL SLSEWDVVEW SDDQAVFTFV YDTIQLTITF
EESVVGFPFL DKRYRKIVDV NFQSLLDEDQ APPSSLLVHK LIFQYVEEKE SWKKTCTTQH
QLPKMLEEFS LVVHHCRLLG EEIEYLKRWG PNYNLMNIDI NNNELRLLFS SSAAFAKFEI
TLFLSAYYPS VPLPSTIQNH VGNTSQDDIA TILSKVPLEN NYLKNVVKQI YQDLFQDCHF
YH*
mutated AA sequence MDGVSSEANE ENDNIERPVR RRHSSILKPP RSPLQDLRGG NERVQESNAL RNKKNSRRVS
FADTIKVFQT ESHMKIVRKS EMEGCSAMVP SQLQLLPPGF KRFSCLSLPE TEAGENLLLI
QNKKLEDNYC EITGMNTLLS APIHTQMQQK EFSIIEHTRE RKHANDQTVI FSDENQMDLT
SSHTVMITKG LLDNPISEKS TKIDTTSFLA NLKLHTEDSR MKKEVNFSVD QNTSSENKID
FNDFIKRLKT GKCSAFPDVP DKENFEIPIY SKEPNSASST HQMHVSLKED ENNSNITRLF
REKDDGMNFT QCHTANIQTL IPTSSETNSR ESKGNDITIY GNDFMDLTFN HTLQILPATG
NFSEIENQTQ NAMDVTTGYG TKASGNKTVF KSKQNTAFQD LSINSADKIH ITRSHIMGAE
THIVSQTCNQ DARILAMTPE SIYSNPSIQG CKTVFYSSCN DAMEMTKCLS NMREEKNLLK
HDSNYAKMYC NPDAMSSLTE KTIYSGEENM DITKSHTVAI DNQIFKQDQS NVQIAAAPTP
EKEMMLQNLM TTSEDGKMNV NCNSVPHVSK ERIQQSLSNP LSISLTDRKT ELLSGENMDL
TESHTSNLGS QVPLAAYNLA PESTSESHSQ SKSSSDECEE ITKSRNEPFQ RSDIIAKNSL
TDTWNKDKDW VLKILPYLDK DSPQSADCNQ EIATSHNIVY CGGVLDKQIT NRNTVSWEQS
LFSTTKPLFS SGQFSMKNHD TAISSHTVKS VLGQNSKLAE PLRKSLSNPT PDYCHDKMII
CSEEEQNMDL TKSHTVVIGF GPSELQELGK TNLEHTTGQL TTMNRQIAVK VEKCGKSPIE
KSGVLKSNCI MDVLEDESVQ KPKFPKEKQN VKIWGRKSVG GPKIDKTIVF SEDDKNDMDI
TKSYTIEINH RPLLEKRDCH LVPLAGTSET ILYTCRQDDM EITRSHTTAL ECKTVSPDEI
TTRPMDKTVV FVDNHVELEM TESHTVFIDY QEKERTDRPN FELSQRKSLG TPTVICTPTE
ESVFFPGNGE SDRLVANDSQ LTPLEEWSNN RGPVEVADNM ELSKSATCKN IKDVQSPGFL
NEPLSSKSQR RKSLKLKNDK TIVFSENHKN DMDITQSCMV EIDNESALED KEDFHLAGAS
KTILYSCGQD DMEITRSHTT ALECKTLLPN EIAIRPMDKT VLFTDNYSDL EVTDSHTVFI
DCQATEKILE ENPKFGIGKG KNLGVSFPKD NSCVQEIAEK QALAVGNKIV LHTEQKQQLF
AATNRTTNEI IKFHSAAMDE KVIGKVVDQA CTLEKAQVES CQLNNRDRRN VDFTSSHATA
VCGSSDNYSC LPNVISCTDN LEGSAMLLCD KDEEKANYCP VQNDLAYAND FASEYYLESE
GQPLSAPCPL LEKEEVIQTS TKGQLDCVIT LHKDQDLIKD PRNLLANQTL VYSQDLGEMT
KLNSKRVSFK LPKDQMKVYV DDIYVIPQPH FSTDQPPLPK KGQSSINKEE VILSKAGNKS
LNIIENSSAP ICENKPKILN SEEWFAAACK KELKENIQTT NYNTALDFHS NSDVTKQVIQ
THVNAGEAPD PVITSNVPCF HSIKPNLNNL NGKTGEFLAF QTVHLPPLPE QLLELGNKAH
NDMHIVQATE IHNINIISSN AKDSRDEENK KSHNGAETTS LPPKTVFKDK VRRCSLGIFL
PRLPNKRNCS VTGIDDLEQI PADTTDINHL ETQPVSSKDS GIGSVAGKLN LSPSQYINEE
NLPVYPDEIN SSDSINIETE EKALIETYQK EISPYENKMG KTCNSQKRTW VQEEEDIHKE
KKIRKNEIKF SDTTQDREIF DHHTEEDIDK SANSVLIKNL SRTPSSCSSS LDSIKADGTS
LDFSTYRSSQ MESQFLRDTI CEESLREKLQ DGRITIREFF ILLQVHILIQ KPRQSNLPGN
FTVNTPPTPE DLMLSQYVYR PKIQIYREDC EARRQKIEEL KLSASNQDKL LVDINKNLWE
KMRHCSDKEL KAFGIYLNKI KSCFTKMTKV FTHQGKVALY GKLVQSAQNE REKLQIKIDE
MDKILKKIDN CLTEMETETK NLEDEEKNNP VEEWDSEMRA AEKELEQLKT EEEELQRNLL
ELEVQKEQTL AQIDFMQKQR NRTEELLDQL SLSEWDVVEW SDDQAVFTFV YDTIQLTITF
EESVVGFPFL DKRYRKIVDV NFQSLLDEDQ APPSSLLVHK LIFQYVEEKE SWKKTCTTQH
QLPKMLEEFS LVVHHCRLLG EEIEYLKRWG PNYNLMNIDI NNNELRLLFS SSAAFAKFEI
TLFLSAYYPS VPLPSTIQNH VGNTSQDDIA TILSKVPLEN NYLKNVVKQI YQDLFQDCHF
YH*
speed 1.10 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