Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999963318931455 (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) chr1:225266966C>GN/A show variant in all transcripts   IGV
HGNC symbol DNAH14
Ensembl transcript ID ENST00000445597
Genbank transcript ID N/A
UniProt peptide Q0VDD8
alteration type single base exchange
alteration region CDS
DNA changes c.2284C>G
cDNA.2284C>G
g.183003C>G
AA changes L762V Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 762
frameshift no
known variant Reference ID: rs3105559
databasehomozygous (G/G)heterozygousallele carriers
1000G13677832150
ExAC8332209710429
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4931
0.4391
(flanking)1.671
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased183002wt: 0.43 / mu: 0.92wt: GAATTTCTGGAGCAT
mu: GAATTTGTGGAGCAT		 ATTT|ctgg
distance from splice site 58
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      762LECDPTEIEEFLEHFIFLNAISSK
mutated  all conserved    762LECDPTEIEEFVEHFIFLNAISS
Ptroglodytes  no alignment  ENSPTRG00000002028  n/a
Mmulatta  no alignment  ENSMMUG00000008571  n/a
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
11641171NP_BINDATP (Potential).might get lost (downstream of altered splice site)
11641171MOTIFGPAGTGKT motif (By similarity).might get lost (downstream of altered splice site)
14271434NP_BINDATP (Potential).might get lost (downstream of altered splice site)
18181818CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 10524 / 10524
position (AA) of stopcodon in wt / mu AA sequence 3508 / 3508
position of stopcodon in wt / mu cDNA 10524 / 10524
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 1
strand 1
last intron/exon boundary 10309
theoretical NMD boundary in CDS 10258
length of CDS 10524
coding sequence (CDS) position 2284
cDNA position
(for ins/del: last normal base / first normal base)		 2284
gDNA position
(for ins/del: last normal base / first normal base)		 183003
chromosomal position
(for ins/del: last normal base / first normal base)		 225266966
original gDNA sequence snippet CCACTGAAATAGAAGAATTTCTGGAGCATTTTATTTTTTTG
altered gDNA sequence snippet CCACTGAAATAGAAGAATTTGTGGAGCATTTTATTTTTTTG
original cDNA sequence snippet CCACTGAAATAGAAGAATTTCTGGAGCATTTTATTTTTTTG
altered cDNA sequence snippet CCACTGAAATAGAAGAATTTGTGGAGCATTTTATTTTTTTG
wildtype AA sequence MGRRSQWIWA MRCQMLVPVL SLHIGLARAL GCGCIASKIE CLIRCNAPFP LLDAVGSVAS
QELQSLTGTV GVTSGAAAYP RWNLARARAP PHLPGTQDPL RRVRDPTPIV ASSPGRRRGS
WSGGYGQEAS EPGVVGLCCA VLPIHPSLAL AGVGGPDLRR FQEGPQRPSD HGAAEKHMET
FIPIDLTTEN QEMDKEETKT KPRLLRYEEK KYEDVKPLET QPAEIAEKET LEYKTVRTFS
ESLKSEKTEE PKDDDVIRNI IRLREKLGWQ TILPQHSLKY GSSKIAIQKI TLKKPLEDDG
EFVYCLPRKS PKSLYNPYDL QVVSAHTAKH CKEFWVITAS FISKLDSSRT YSLDEFCEEQ
LQQATQALKQ LEDIRNKAIS EMKSTFLKVA EKNEIKEYFE SKLSEDDTTH FKLPKYRRLL
ETFFKFVMLV DYIFQELIRQ LMNTAVTLLL ELFNGSAGMP FSVEKKNENL IRTFKDNSFP
TGKTTNDCEE LVDNSKLHAI SVQKSEVKTD TDINEILNSV EVGKDLRKTY APIFEVNLCL
RIPAESDSSE NSKENFHESD QCPEECVMFE DEMSENKDNC VKKHSSEELL PKAKKSKEIS
YNLEDIISAT ITPLCQDPQL SIFIDLVSIM DLPNKTGSII HYKEQTRWPD CHILFETDPA
YQNIIVNLLT IIGNSMGLVN AYSHKFIKYC TMTEKAKIMS MKISSMGELT SKEFEAILNR
FRNYFRHIVN MAIEKRIGIF NVVVESSLQQ LECDPTEIEE FLEHFIFLNA ISSKISKLEK
EFLTMSQLYS VAKHHQIHIS EEQIAIFQVL LLKFSQLKSS MKLSKINKDT AITKFRDNLE
ACISGLHVDV GNLKAKIRTP LLLCAGTQVS TAMEMIQTLS GEAASLTNKA KAYSHYQDCF
SDSQSHMHSV NVEEITQIVL SEISDIEGDL TLRKKLWEAQ EEWKRASWEW RNSSLQSIDV
ESVQRNVSKL MHIISVLEKE IYSIFIIPSI DDISAQLEES QVILATIKGS PHIGPIKSQI
MFYNDCVKSF VSSYSREKLE KVHAGLMCHL EEVADLVVLD TSNSRTKAIL GALLILYVHC
RDIVINLLLK NIFNAEDFEW TRHLQYKWNE KQKLCYVSQG NASFTYGYEY LGCTSRLVIT
PLTDRCWLTL MEALHLNLGG CPAGPAGTGK TETVKDLAKC ALFAFKCNTA LIKLPNSLIV
LTCFGLEKTV LVMNTVMSFR FVLEGKEIRI NMSCAVFITM NPRYGGGVEL PDNLKSLFRP
VAMMVPHYQM IAEIILFSFG FKSANSLSGK LTNLYELARK QLSQQDHYNF GLRSLKIVLI
MAGTKKREFK CDTSDSLSEA DETLIVIEAI REASLPKCPP EDVPLFENII GDIFPEVTVL
KVNQLALEKV IYTATQQLGL QNWSSQKEKI IQFYNQLQVC VGVMLVGPTG GGKTTVRRIL
EKALTLLPIA DFLSVAERKS ASKISERKGK VDICVLNPKC VTLSELYGQL DPNTMEWTDG
LLSATIRSYV YFNTPKNTKK DIDLRLKSRI SDLSNVFKLD SSDTTETDDN IFEEIEKVVK
IPENHNFDWQ WIILDGPVDT FWVENLNSVL DDTRTLCLAN SERIALTNKI RVIFEVDNLS
QASPATVSRC AMVYMDPVDL GWEPYVKSWL LKTSKIISQS GVDCLEFMIK NSVTDGLQFI
RNRQKFQPYP MEDITVVITL CRILDAFFDF MGKNGGFEQS DDLNDTSSKE ANSQRESVTF
KDIEKRDENT WYPEKNPDKL TKIIQKLFVF AFTWAFGGAL NREDEHRENI PFCPSLEPDS
LAKVTYDFDK LVHELFGNSS QVGINLPTGE CSIFGYFVDI EQCEFIPWSD LVPNDQTLIQ
RDNPTKKPEV RTNKKLLKNN DHKGVVVSTI NFSTNVTAAK TKEMILKKLI RRTKDTLGAP
KNNRILIFID DMNMPVSDMY GAQPPLELIR QLLDLGGVYD TEKNTWKNIQ DLSIVAACVP
VVNDISPRLL KHFSMLVLPH PSQDILCTIF QIGIDGCGKK TCATLACYLT DNKLYRVPIS
HKCAYIEFKE VFKKVFIHAG LKGKPTVLMV PNLNIEQDSF LEDLNYIISS GRIPDLFENV
ELDSIAMKIR YLTEQSGHMD NRQSLLSFFQ KRIYKNLHIF VIMSPEGPSF RQNCRVYPSM
ISSCTIDWYE RWPEEALLIV ANSFLKEKVN FENRENLKEK LAPTCVQIHK SMKDLNRKYF
EETGRFYYTT PNSYLQFMET FAHILRAREE EMQTKRDRFH MGLSTILEAT TLVTEMQEEL
LILGPQVEQK TKETETLMEK LRKDSQVVEK VQMLVKQDEE IVAEEVRIVE DYAQKTANEL
KSVLPAFDKA IVALNALDKA DVAELRVYTR PPFLVLTVMN AVCILLQKKP NWATAKLLLS
ETGFLKKLIN LDKDSIPDKV FVKLKKIVTL PDFNPHKISL VSVACCSLCQ WVIALNNYHE
VQKVVGPKQI QVAEAQNVLK IARQRLAEKQ RGLQLISRWH NQGLPHGQYS VENAILIKNG
QQWPLLIDPH RQAHKWIRQM EGSRLQKLSI EDSNYTKKIE NAMKTGGSVL LQSCQASTWR
KKLYLSTEID NPHFLPSVYN FVTMINFTVT FQGLQDQLLS TVVTHEVPHL EDQRSKLLES
ISLDAITLEE LEEKTLNLLQ KALGSILDDD KIVDTLRKSK MTSNEISKRI EATKKAESEI
QAIRKNYLPI ATRGALLYFL VADLTQINYM YQFSLDWFHQ VFVSSVVSKS KEQEHSFKRE
KVSPKEVHEF ISISKEPNLE NEKNLLDKHI KSAIDMLTKS IFKVVSSALF NEDKLCFSFR
LCTVIMQNNA NGNLIQDDIG FLPEEEWNIF LYSGILINIK SALSQSRLTS TFEIGESQHL
QWLSDSRWRQ CQYVSTHLEP FSLLCKSLLS NVSQWDTFKN SKAVYSLIST PFSSENASLE
ENTKPPEEKH TFCLLLRAIN HTGTDLGPVG RGQWLTSTAC DRHTDVCSFS FALNDGVPDV
EHVQDIFYGH CVDKYHVKVL RPESLNNSVR KFITEKMGNK YLQRTGVNLK DAYKGSNART
PLILIQTHGS ASIKDYIHII QSLPDDDLPE VLGIHPEAIR SCWETQGEKF IENLIAMQPK
TTTANLMIRP EQSKDELVME ILSDLLKRLP LTVEKEEIAV GTPSTLKSMM SSSIWESLSK
NLKDHDPLIH CVLLTFLKQE IKRFDKLLFV IHKSLKDLQL AIKGEIILTQ ELEEIFNSFL
NMRVPTLWQK HAYRSCKPLS SWIDDLIQRL NFFNTWAKVA YTAIQRRYMR FVTVWKQSIP
STSQKCKHPE DSENNFFEGF PSRYWLPAFF FPQAFLAAVL QDYGRSRGIA VDALTFTHHV
ISNTTDKDEK FSVFMPKKLN IVRRAFKGSA SSHTGVYIFG LFIEGARWNR EQKILEDSLP
LEMCCDFPDI YFLPTKISTK TPNASNQTDS ELYAFECPVY QTPERSRILA TTGLPTNFLT
SVYLSTKKPP SHWITMRVAL LCEKNEK*
mutated AA sequence MGRRSQWIWA MRCQMLVPVL SLHIGLARAL GCGCIASKIE CLIRCNAPFP LLDAVGSVAS
QELQSLTGTV GVTSGAAAYP RWNLARARAP PHLPGTQDPL RRVRDPTPIV ASSPGRRRGS
WSGGYGQEAS EPGVVGLCCA VLPIHPSLAL AGVGGPDLRR FQEGPQRPSD HGAAEKHMET
FIPIDLTTEN QEMDKEETKT KPRLLRYEEK KYEDVKPLET QPAEIAEKET LEYKTVRTFS
ESLKSEKTEE PKDDDVIRNI IRLREKLGWQ TILPQHSLKY GSSKIAIQKI TLKKPLEDDG
EFVYCLPRKS PKSLYNPYDL QVVSAHTAKH CKEFWVITAS FISKLDSSRT YSLDEFCEEQ
LQQATQALKQ LEDIRNKAIS EMKSTFLKVA EKNEIKEYFE SKLSEDDTTH FKLPKYRRLL
ETFFKFVMLV DYIFQELIRQ LMNTAVTLLL ELFNGSAGMP FSVEKKNENL IRTFKDNSFP
TGKTTNDCEE LVDNSKLHAI SVQKSEVKTD TDINEILNSV EVGKDLRKTY APIFEVNLCL
RIPAESDSSE NSKENFHESD QCPEECVMFE DEMSENKDNC VKKHSSEELL PKAKKSKEIS
YNLEDIISAT ITPLCQDPQL SIFIDLVSIM DLPNKTGSII HYKEQTRWPD CHILFETDPA
YQNIIVNLLT IIGNSMGLVN AYSHKFIKYC TMTEKAKIMS MKISSMGELT SKEFEAILNR
FRNYFRHIVN MAIEKRIGIF NVVVESSLQQ LECDPTEIEE FVEHFIFLNA ISSKISKLEK
EFLTMSQLYS VAKHHQIHIS EEQIAIFQVL LLKFSQLKSS MKLSKINKDT AITKFRDNLE
ACISGLHVDV GNLKAKIRTP LLLCAGTQVS TAMEMIQTLS GEAASLTNKA KAYSHYQDCF
SDSQSHMHSV NVEEITQIVL SEISDIEGDL TLRKKLWEAQ EEWKRASWEW RNSSLQSIDV
ESVQRNVSKL MHIISVLEKE IYSIFIIPSI DDISAQLEES QVILATIKGS PHIGPIKSQI
MFYNDCVKSF VSSYSREKLE KVHAGLMCHL EEVADLVVLD TSNSRTKAIL GALLILYVHC
RDIVINLLLK NIFNAEDFEW TRHLQYKWNE KQKLCYVSQG NASFTYGYEY LGCTSRLVIT
PLTDRCWLTL MEALHLNLGG CPAGPAGTGK TETVKDLAKC ALFAFKCNTA LIKLPNSLIV
LTCFGLEKTV LVMNTVMSFR FVLEGKEIRI NMSCAVFITM NPRYGGGVEL PDNLKSLFRP
VAMMVPHYQM IAEIILFSFG FKSANSLSGK LTNLYELARK QLSQQDHYNF GLRSLKIVLI
MAGTKKREFK CDTSDSLSEA DETLIVIEAI REASLPKCPP EDVPLFENII GDIFPEVTVL
KVNQLALEKV IYTATQQLGL QNWSSQKEKI IQFYNQLQVC VGVMLVGPTG GGKTTVRRIL
EKALTLLPIA DFLSVAERKS ASKISERKGK VDICVLNPKC VTLSELYGQL DPNTMEWTDG
LLSATIRSYV YFNTPKNTKK DIDLRLKSRI SDLSNVFKLD SSDTTETDDN IFEEIEKVVK
IPENHNFDWQ WIILDGPVDT FWVENLNSVL DDTRTLCLAN SERIALTNKI RVIFEVDNLS
QASPATVSRC AMVYMDPVDL GWEPYVKSWL LKTSKIISQS GVDCLEFMIK NSVTDGLQFI
RNRQKFQPYP MEDITVVITL CRILDAFFDF MGKNGGFEQS DDLNDTSSKE ANSQRESVTF
KDIEKRDENT WYPEKNPDKL TKIIQKLFVF AFTWAFGGAL NREDEHRENI PFCPSLEPDS
LAKVTYDFDK LVHELFGNSS QVGINLPTGE CSIFGYFVDI EQCEFIPWSD LVPNDQTLIQ
RDNPTKKPEV RTNKKLLKNN DHKGVVVSTI NFSTNVTAAK TKEMILKKLI RRTKDTLGAP
KNNRILIFID DMNMPVSDMY GAQPPLELIR QLLDLGGVYD TEKNTWKNIQ DLSIVAACVP
VVNDISPRLL KHFSMLVLPH PSQDILCTIF QIGIDGCGKK TCATLACYLT DNKLYRVPIS
HKCAYIEFKE VFKKVFIHAG LKGKPTVLMV PNLNIEQDSF LEDLNYIISS GRIPDLFENV
ELDSIAMKIR YLTEQSGHMD NRQSLLSFFQ KRIYKNLHIF VIMSPEGPSF RQNCRVYPSM
ISSCTIDWYE RWPEEALLIV ANSFLKEKVN FENRENLKEK LAPTCVQIHK SMKDLNRKYF
EETGRFYYTT PNSYLQFMET FAHILRAREE EMQTKRDRFH MGLSTILEAT TLVTEMQEEL
LILGPQVEQK TKETETLMEK LRKDSQVVEK VQMLVKQDEE IVAEEVRIVE DYAQKTANEL
KSVLPAFDKA IVALNALDKA DVAELRVYTR PPFLVLTVMN AVCILLQKKP NWATAKLLLS
ETGFLKKLIN LDKDSIPDKV FVKLKKIVTL PDFNPHKISL VSVACCSLCQ WVIALNNYHE
VQKVVGPKQI QVAEAQNVLK IARQRLAEKQ RGLQLISRWH NQGLPHGQYS VENAILIKNG
QQWPLLIDPH RQAHKWIRQM EGSRLQKLSI EDSNYTKKIE NAMKTGGSVL LQSCQASTWR
KKLYLSTEID NPHFLPSVYN FVTMINFTVT FQGLQDQLLS TVVTHEVPHL EDQRSKLLES
ISLDAITLEE LEEKTLNLLQ KALGSILDDD KIVDTLRKSK MTSNEISKRI EATKKAESEI
QAIRKNYLPI ATRGALLYFL VADLTQINYM YQFSLDWFHQ VFVSSVVSKS KEQEHSFKRE
KVSPKEVHEF ISISKEPNLE NEKNLLDKHI KSAIDMLTKS IFKVVSSALF NEDKLCFSFR
LCTVIMQNNA NGNLIQDDIG FLPEEEWNIF LYSGILINIK SALSQSRLTS TFEIGESQHL
QWLSDSRWRQ CQYVSTHLEP FSLLCKSLLS NVSQWDTFKN SKAVYSLIST PFSSENASLE
ENTKPPEEKH TFCLLLRAIN HTGTDLGPVG RGQWLTSTAC DRHTDVCSFS FALNDGVPDV
EHVQDIFYGH CVDKYHVKVL RPESLNNSVR KFITEKMGNK YLQRTGVNLK DAYKGSNART
PLILIQTHGS ASIKDYIHII QSLPDDDLPE VLGIHPEAIR SCWETQGEKF IENLIAMQPK
TTTANLMIRP EQSKDELVME ILSDLLKRLP LTVEKEEIAV GTPSTLKSMM SSSIWESLSK
NLKDHDPLIH CVLLTFLKQE IKRFDKLLFV IHKSLKDLQL AIKGEIILTQ ELEEIFNSFL
NMRVPTLWQK HAYRSCKPLS SWIDDLIQRL NFFNTWAKVA YTAIQRRYMR FVTVWKQSIP
STSQKCKHPE DSENNFFEGF PSRYWLPAFF FPQAFLAAVL QDYGRSRGIA VDALTFTHHV
ISNTTDKDEK FSVFMPKKLN IVRRAFKGSA SSHTGVYIFG LFIEGARWNR EQKILEDSLP
LEMCCDFPDI YFLPTKISTK TPNASNQTDS ELYAFECPVY QTPERSRILA TTGLPTNFLT
SVYLSTKKPP SHWITMRVAL LCEKNEK*
speed 0.69 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