MutationTaster - study a chromosomal position

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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000445597
Querying Taster for transcript #2: ENST00000439375
Querying Taster for transcript #3: ENST00000430092
MT speed 0 s - this script 4.274722 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
DNAH14	polymorphism_automatic	3.66810685450414e-05	simple_aae		affected		L762V	single base exchange	rs3105559		show file
DNAH14	polymorphism_automatic	3.66810685450414e-05	simple_aae		affected		L828V	single base exchange	rs3105559		show file
DNAH14	polymorphism_automatic	3.66810685450414e-05	simple_aae		affected		L828V	single base exchange	rs3105559		show file

Taster files

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

known variant

Reference ID: rs3105559

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1367	783	2150
ExAC	8332	2097	10429

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.493	1
	0.439	1
(flanking)	1.67	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	183002	wt: 0.43 / mu: 0.92	wt: GAATTTCTGGAGCAT mu: GAATTTGTGGAGCAT	ATTT\|ctgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

762

mutated

all conserved

762

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)	feature	details
1164	1171	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
1164	1171	MOTIF	GPAGTGKT motif (By similarity).	might get lost (downstream of altered splice site)
1427	1434	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
1818	1818	CARBOHYD	N-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

strand

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

0.74 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

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

ENST00000439375

Genbank transcript ID

N/A

UniProt peptide

Q0VDD8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2482C>G
cDNA.2482C>G
g.183003C>G

AA changes

L828V Score: 32 explain score(s)

position(s) of altered AA
if AA alteration in CDS

828

frameshift

known variant

Reference ID: rs3105559

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1367	783	2150
ExAC	8332	2097	10429

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.493	1
	0.439	1
(flanking)	1.67	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	183002	wt: 0.43 / mu: 0.92	wt: GAATTTCTGGAGCAT mu: GAATTTGTGGAGCAT	ATTT\|ctgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

828

mutated

all conserved

828

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)	feature	details
1164	1171	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
1164	1171	MOTIF	GPAGTGKT motif (By similarity).	might get lost (downstream of altered splice site)
1427	1434	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
1818	1818	CARBOHYD	N-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

13548 / 13548

position (AA) of stopcodon in wt / mu AA sequence

4516 / 4516

position of stopcodon in wt / mu cDNA

13548 / 13548

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

strand

last intron/exon boundary

13333

theoretical NMD boundary in CDS

13282

length of CDS

13548

coding sequence (CDS) position

2482

cDNA position
(for ins/del: last normal base / first normal base)

2482

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

METFIPIDLT TENQEMDKEE TKTKPRLLRY EEKKYEDVKP LETQPAEIAE KETLEYKTVR
TFSESLKSEK TEDYLRESII QQHMVSPEPA SLKEKGKSRR KKDQTHACPN VRKARPVSYD
RTEPKDDDVI RNIIRLREKL GWQTILPQHS LKYGSSKIAI QKITLKKPLE DDGEFVYCLP
RKSPKSLYNP YDLQVVSAHT AKHCKEFWVI TASFISKVIN IVGSVKEVEL IPTLEWLSER
RHYYLLRQFK IFSDFRMNKA FVTWKLNVKR IKTEKSRSFL YHHLFLADDL FQTCLVYIRG
LCEDAINLKN YNDHENNLSA ICLVKLDSSR TYSLDEFCEE QLQQATQALK QLEDIRNKAI
SEMKSTFLKV AEKNEIKEYF ESKLSEDDTT HFKLPKYRRL LETFFKFVML VDYIFQELIR
QLMNTAVTLL LELFNGSAGM PFSVEKKNEN LIRTFKDNSF PTGKTTNDCE ELVDNSKLHA
ISVQKSEVKT DTDINEILNS VEVGKDLRKT YAPIFEVNLC LRIPAESDSS ENSKENFHES
DQCPEECVMF EDEMSENKDN CVKKHSSEEL LPKAKKSKEI SYNLEDIISD TEIETEFENK
YMYYEFPEFP TNLFIDPNRL EFSVKIQNML TNMEKCITTI TPLCQDPQLS IFIDLVSIMD
LPNKTGSIIH YKEQTRWPDC HILFETDPAY QNIIVNLLTI IGNSMGLVNA YSHKFIKYCT
MTEKAKIMSM KISSMGELTS KEFEAILNRF RNYFRHIVNM AIEKRIGIFN VVSLDYQSEC
LLYIDNVIHM SHTLIQSVIE KKNKNLLEVV ESSLQQLECD PTEIEEFLEH FIFLNAISSK
ISKLEKEFLT MSQLYSVAKH HQIHISEEQI AIFQVLLLKF SQLKSSMKLS KINKDTAITK
FRDNLEACIS GLHVDVGNLK AKIRTPLLLC AGTQVSTAME MIQTLSGEAA SLTNKAKAYS
HYQDCFSDSQ SHMHSVNVEE ITQIVLSEIS DIEGDLTLRK KLWEAQEEWK RASWEWRNSS
LQSIDVESVQ RNVSKLMHII SVLEKGLPKS DMVTHLKQVV TEFKQELPII IALGNPCLKP
RHWEALQEII GKSVPLDKNC KVENLLALKM FQYENEINDM STSATNEAAL EKMLFKIIDF
WNTTPLPLIL HHTEIYSIFI IPSIDDISAQ LEESQVILAT IKGSPHIGPI KDLVNEWDQN
LTLFSYTLEE WMNCQRNWLY LEPVFHSSEI RRQLPAETEL FSQVISMWKK IMSKIQNKQN
ALQITTSAGV LEILQNCNIH LEHIKKSLED YLEVKRLIFP RFYFLSNAEL LDILADSRNP
ESVQPHLVKC FENIKQLLIW KQDIGPPAVK MLISAEGEGL VLPKKIRVRS AVEQWLVNVE
KSMFDVLKKE RYIYNIILLF QSQIMFYNDC VKSFVSSYSR EKLEKVHAGL MCHLEEVADL
VVLDTSNSRT KAILGALLIL YVHCRDIVIN LLLKNIFNAE DFEWTRHLQY KWNEKQKLCY
VSQGNASFTY GYEYLGCTSR LVITPLTDRC WLTLMEALHL NLGGCPAGPA GTGKTETVKD
LAKSLGKHCV VFNCFEDLDY KIVRKFFFGL VQSGAWSCFD EFNLIDLEVL SVIASQILTI
KAAKDNYSAR FVLEGKEIRI NMSCAVFITM NPRYGGGVEL PDNLKSLFRP VAMMVPHYQM
IAEIILFSFG FKSANSLSGK LTNLYELARK QLSQQDHYNF GLRSLKIVLI MAGTKKREFK
CLSEADETLI VIEAIREASL PKCPPEDVPL FENIIGDIFP EVTVLKVNQL ALEKVIYTAT
QQLGLQNWSS QKEKIIQFYN QLQVCVGVML VGPTGGGKTT VRRILEKALT LLPIADFLSV
AERKSASKIS ERKGKVDICV LNPKCVTLSE LYGQLDPNTM EWTDGLLSAT IRSYVYFNTP
KNTKKDIDLR LKSRISDLSN VFKLDSSDTT ETDDNIFEEI EKVVKIPENH NFDWQWIILD
GPVDTFWVEN LNSVLDDTRT LCLANSERIA LTNKIRVIFE VDNLSQASPA TVSRCAMVYM
DPVDLGWEPY VKSWLLKTSK IISQSGVDCL EFMIKNSVTD GLQFIRNRQK FQPYPMEDIT
VVITLCRILD AFFDFMGKNG GFEQSDDLND TSSKEANSQR ESVTFKDIEK RDENTWYPEK
NPDKLTKIIQ KLFVFAFTWA FGGALNREDE HRENIPFCPS LEPDSLAKVT YDFDKLVHEL
FGNSSQVGWK HWGQSQGRRR KGNCINLPTG ECSIFGYFVD IEQCEFIPWS DLVPNDQTLI
QRGTSLLTNL QRSGGNFLKI TECGECINYT ATRDTTCLSF LMSLLLKNSC PVLLTGESGV
GKTAAINQML EKLEGPGAFD IKHGSILGDT LLYSEIKKSS SLKQNITILI PETHKTATGS
SDNPTKKPEV RTNKKLLKNN DHKGVVVSTI NFSTNVTAAK TKEMILKKLI RRTKDTLGAP
KNNRILIFID DMNMPVSDMY GAQPPLELIR QLLDLGGVYD TEKNTWKNIQ DLSIVAACVP
VVNDISPRLL KHFSMLVLPH PSQDILCTIF QAHLGIYFSI NNFTPEVQKS KDQIISCSLA
IYHQVRQNML PTPTKCHYMF NLRDMFKLLL GLLQADRTVV NSKEMAALLF VHEATRVFHD
RLIDFTDKSL FYRLLSRELE NCFQIGIDGC GKKTCATLAC YLTDNKLYRV PISHKCAYIE
FKEVFKKVFI HAGLKGKPTV LMVPNLNIEQ DSFLEDLNYI ISSGRIPDLF ENVELDSIAM
KIRYLTEQSG HMDNRQSLLS FFQKRIYKNL HIFVIMSPEG PSFRQNCRVY PSMISSCTID
WYERWPEEAL LIVANSFLKE KVNFENRENL KEKLAPTCVQ IHKSMKDLNR KYFEETGRFY
YTTPNSYLQF METFAHILRA REEEMQTKRD RFHMGLSTIL EATTLVTEMQ EELLILGPQV
EQKTKETETL MEKLRKDSQV VEKVQMLVKQ DEEIVAEEVR IVEDYAQKTA NELKSVLPAF
DKAIVALNAL DKADVAELRV YTRPPFLVLT VMNAVCILLQ KKPNWATAKL LLSETGFLKK
LINLDKDSIP DKVFVKLKKI VTLPDFNPHK ISLVSVACCS LCQWVIALNN YHEVQKVVGP
KQIQVAEAQN VLKIARQRLA EKQRGLQLVE EHLLFLQAAY KDTVAEKQLL ANRKTMASRR
FQCASVLLTV LEDEKTRWQE TINQIDNKLE GILGDILLSA ACIVYSGILT PEFRQLIVNK
WETFCIENGI SLSSKFSLIK VMAQKYEISR WHNQGLPHGQ YSVENAILIK NGQQWPLLID
PHRQAHKWIR QMEGSRLQKL SIEDSNYTKK IENAMKTGGS VLLQNLLETL APGLKAILKK
DIYQKKGHYF IRVGDAEFEY NSNFRLYLST EIDNPHFLPS VYNFVTMINF TVTFQGLQDQ
LLSTVVTHEV PHLEDQRSKL LESISLDAIT LEELEEKTLN LLQKALGSIL DDDKIVDTLR
KSKMTSNEIS KRIEATKKAE SEIQAIRKNY LPIATRGALL YFLVADLTQI NYMYQFSLDW
FHQVFVSSVV SKSKEQEHSF KREKVSPKEV HEFISISKEP NLENEKNLLD KHIKSAIDML
TKSIFKVVSS ALFNEDKLCF SFRLCTVIMQ NNANGNLIQD DIGFLPEEEW NIFLYSGILI
NIKSALSQSR LTSTFEIGES QHLQWLSDSR WRQCQYVSTH LEPFSLLCKS LLSNVSQWDT
FKNSKAVYSL ISTPFSSENA SLEENTKPPE ETELLNENKE TCNPINFPWE KLTSFQRLIL
VKVLRPESLN NSVRKFITEK MGNKYLQRTG VNLKDAYKGS NARTPLILIQ THGIDLTNIL
LRFAQELKGT THHVTIISLG RDQAAKAEDL ILKALTKTQQ WVFLQNCHLA TSFMPRLCTI
VESFNSPNVT IDPEFRLWLS SKSYSSFPIP VLKKGLKIAV ESPQGLKSNL LQTFGCTGSG
EVTEEIFENP DCGQWWKKLL FSLCFFNAVI NERKNYGILG WNIAYKFNSS DLGVAIKVLE
NSLRGQPSIS WQALRYLIGE VIYGGRVIDN WDKRCLKTLL YKFCNPEVLK DDFSFSRSAS
IKDYIHIIQS LPDDDLPEVL GIHPEAIRSC WETQGEKFIE NLIAMQPKTT TANLMIRPEQ
SKDELVMEIL SDLLKRLPLT VEKEEIAVGT PSTLKSMMSS SIWESLSKNL KDHDPLIHCV
LLTFLKQEIK RFDKLLFVIH KSLKDLQLAI KGEIILTQEL EEIFNSFLNM RVPTLWQKHA
YRSCKPLSSW IDDLIQRLNF FNTWAKVAYT AIQRRYMRFV TVWKQSIPST SQKCKHPEDS
ENNFFEGFPS RYWLPAFFFP QAFLAAVLQD YGRSRGIAVD ALTFTHHVIS NTTDKDEKFS
VFMPKKLNIV RRAFKGSASS HTGVYIFGLF IEGARWNREQ KILEDSLPLE MCCDFPDIYF
LPTKISTKTP NASNQTDSEL YAFECPVYQT PERSRILATT GLPTNFLTSV YLSTKKPPSH
WITMRVALLC EKNEK*

mutated AA sequence

METFIPIDLT TENQEMDKEE TKTKPRLLRY EEKKYEDVKP LETQPAEIAE KETLEYKTVR
TFSESLKSEK TEDYLRESII QQHMVSPEPA SLKEKGKSRR KKDQTHACPN VRKARPVSYD
RTEPKDDDVI RNIIRLREKL GWQTILPQHS LKYGSSKIAI QKITLKKPLE DDGEFVYCLP
RKSPKSLYNP YDLQVVSAHT AKHCKEFWVI TASFISKVIN IVGSVKEVEL IPTLEWLSER
RHYYLLRQFK IFSDFRMNKA FVTWKLNVKR IKTEKSRSFL YHHLFLADDL FQTCLVYIRG
LCEDAINLKN YNDHENNLSA ICLVKLDSSR TYSLDEFCEE QLQQATQALK QLEDIRNKAI
SEMKSTFLKV AEKNEIKEYF ESKLSEDDTT HFKLPKYRRL LETFFKFVML VDYIFQELIR
QLMNTAVTLL LELFNGSAGM PFSVEKKNEN LIRTFKDNSF PTGKTTNDCE ELVDNSKLHA
ISVQKSEVKT DTDINEILNS VEVGKDLRKT YAPIFEVNLC LRIPAESDSS ENSKENFHES
DQCPEECVMF EDEMSENKDN CVKKHSSEEL LPKAKKSKEI SYNLEDIISD TEIETEFENK
YMYYEFPEFP TNLFIDPNRL EFSVKIQNML TNMEKCITTI TPLCQDPQLS IFIDLVSIMD
LPNKTGSIIH YKEQTRWPDC HILFETDPAY QNIIVNLLTI IGNSMGLVNA YSHKFIKYCT
MTEKAKIMSM KISSMGELTS KEFEAILNRF RNYFRHIVNM AIEKRIGIFN VVSLDYQSEC
LLYIDNVIHM SHTLIQSVIE KKNKNLLEVV ESSLQQLECD PTEIEEFVEH FIFLNAISSK
ISKLEKEFLT MSQLYSVAKH HQIHISEEQI AIFQVLLLKF SQLKSSMKLS KINKDTAITK
FRDNLEACIS GLHVDVGNLK AKIRTPLLLC AGTQVSTAME MIQTLSGEAA SLTNKAKAYS
HYQDCFSDSQ SHMHSVNVEE ITQIVLSEIS DIEGDLTLRK KLWEAQEEWK RASWEWRNSS
LQSIDVESVQ RNVSKLMHII SVLEKGLPKS DMVTHLKQVV TEFKQELPII IALGNPCLKP
RHWEALQEII GKSVPLDKNC KVENLLALKM FQYENEINDM STSATNEAAL EKMLFKIIDF
WNTTPLPLIL HHTEIYSIFI IPSIDDISAQ LEESQVILAT IKGSPHIGPI KDLVNEWDQN
LTLFSYTLEE WMNCQRNWLY LEPVFHSSEI RRQLPAETEL FSQVISMWKK IMSKIQNKQN
ALQITTSAGV LEILQNCNIH LEHIKKSLED YLEVKRLIFP RFYFLSNAEL LDILADSRNP
ESVQPHLVKC FENIKQLLIW KQDIGPPAVK MLISAEGEGL VLPKKIRVRS AVEQWLVNVE
KSMFDVLKKE RYIYNIILLF QSQIMFYNDC VKSFVSSYSR EKLEKVHAGL MCHLEEVADL
VVLDTSNSRT KAILGALLIL YVHCRDIVIN LLLKNIFNAE DFEWTRHLQY KWNEKQKLCY
VSQGNASFTY GYEYLGCTSR LVITPLTDRC WLTLMEALHL NLGGCPAGPA GTGKTETVKD
LAKSLGKHCV VFNCFEDLDY KIVRKFFFGL VQSGAWSCFD EFNLIDLEVL SVIASQILTI
KAAKDNYSAR FVLEGKEIRI NMSCAVFITM NPRYGGGVEL PDNLKSLFRP VAMMVPHYQM
IAEIILFSFG FKSANSLSGK LTNLYELARK QLSQQDHYNF GLRSLKIVLI MAGTKKREFK
CLSEADETLI VIEAIREASL PKCPPEDVPL FENIIGDIFP EVTVLKVNQL ALEKVIYTAT
QQLGLQNWSS QKEKIIQFYN QLQVCVGVML VGPTGGGKTT VRRILEKALT LLPIADFLSV
AERKSASKIS ERKGKVDICV LNPKCVTLSE LYGQLDPNTM EWTDGLLSAT IRSYVYFNTP
KNTKKDIDLR LKSRISDLSN VFKLDSSDTT ETDDNIFEEI EKVVKIPENH NFDWQWIILD
GPVDTFWVEN LNSVLDDTRT LCLANSERIA LTNKIRVIFE VDNLSQASPA TVSRCAMVYM
DPVDLGWEPY VKSWLLKTSK IISQSGVDCL EFMIKNSVTD GLQFIRNRQK FQPYPMEDIT
VVITLCRILD AFFDFMGKNG GFEQSDDLND TSSKEANSQR ESVTFKDIEK RDENTWYPEK
NPDKLTKIIQ KLFVFAFTWA FGGALNREDE HRENIPFCPS LEPDSLAKVT YDFDKLVHEL
FGNSSQVGWK HWGQSQGRRR KGNCINLPTG ECSIFGYFVD IEQCEFIPWS DLVPNDQTLI
QRGTSLLTNL QRSGGNFLKI TECGECINYT ATRDTTCLSF LMSLLLKNSC PVLLTGESGV
GKTAAINQML EKLEGPGAFD IKHGSILGDT LLYSEIKKSS SLKQNITILI PETHKTATGS
SDNPTKKPEV RTNKKLLKNN DHKGVVVSTI NFSTNVTAAK TKEMILKKLI RRTKDTLGAP
KNNRILIFID DMNMPVSDMY GAQPPLELIR QLLDLGGVYD TEKNTWKNIQ DLSIVAACVP
VVNDISPRLL KHFSMLVLPH PSQDILCTIF QAHLGIYFSI NNFTPEVQKS KDQIISCSLA
IYHQVRQNML PTPTKCHYMF NLRDMFKLLL GLLQADRTVV NSKEMAALLF VHEATRVFHD
RLIDFTDKSL FYRLLSRELE NCFQIGIDGC GKKTCATLAC YLTDNKLYRV PISHKCAYIE
FKEVFKKVFI HAGLKGKPTV LMVPNLNIEQ DSFLEDLNYI ISSGRIPDLF ENVELDSIAM
KIRYLTEQSG HMDNRQSLLS FFQKRIYKNL HIFVIMSPEG PSFRQNCRVY PSMISSCTID
WYERWPEEAL LIVANSFLKE KVNFENRENL KEKLAPTCVQ IHKSMKDLNR KYFEETGRFY
YTTPNSYLQF METFAHILRA REEEMQTKRD RFHMGLSTIL EATTLVTEMQ EELLILGPQV
EQKTKETETL MEKLRKDSQV VEKVQMLVKQ DEEIVAEEVR IVEDYAQKTA NELKSVLPAF
DKAIVALNAL DKADVAELRV YTRPPFLVLT VMNAVCILLQ KKPNWATAKL LLSETGFLKK
LINLDKDSIP DKVFVKLKKI VTLPDFNPHK ISLVSVACCS LCQWVIALNN YHEVQKVVGP
KQIQVAEAQN VLKIARQRLA EKQRGLQLVE EHLLFLQAAY KDTVAEKQLL ANRKTMASRR
FQCASVLLTV LEDEKTRWQE TINQIDNKLE GILGDILLSA ACIVYSGILT PEFRQLIVNK
WETFCIENGI SLSSKFSLIK VMAQKYEISR WHNQGLPHGQ YSVENAILIK NGQQWPLLID
PHRQAHKWIR QMEGSRLQKL SIEDSNYTKK IENAMKTGGS VLLQNLLETL APGLKAILKK
DIYQKKGHYF IRVGDAEFEY NSNFRLYLST EIDNPHFLPS VYNFVTMINF TVTFQGLQDQ
LLSTVVTHEV PHLEDQRSKL LESISLDAIT LEELEEKTLN LLQKALGSIL DDDKIVDTLR
KSKMTSNEIS KRIEATKKAE SEIQAIRKNY LPIATRGALL YFLVADLTQI NYMYQFSLDW
FHQVFVSSVV SKSKEQEHSF KREKVSPKEV HEFISISKEP NLENEKNLLD KHIKSAIDML
TKSIFKVVSS ALFNEDKLCF SFRLCTVIMQ NNANGNLIQD DIGFLPEEEW NIFLYSGILI
NIKSALSQSR LTSTFEIGES QHLQWLSDSR WRQCQYVSTH LEPFSLLCKS LLSNVSQWDT
FKNSKAVYSL ISTPFSSENA SLEENTKPPE ETELLNENKE TCNPINFPWE KLTSFQRLIL
VKVLRPESLN NSVRKFITEK MGNKYLQRTG VNLKDAYKGS NARTPLILIQ THGIDLTNIL
LRFAQELKGT THHVTIISLG RDQAAKAEDL ILKALTKTQQ WVFLQNCHLA TSFMPRLCTI
VESFNSPNVT IDPEFRLWLS SKSYSSFPIP VLKKGLKIAV ESPQGLKSNL LQTFGCTGSG
EVTEEIFENP DCGQWWKKLL FSLCFFNAVI NERKNYGILG WNIAYKFNSS DLGVAIKVLE
NSLRGQPSIS WQALRYLIGE VIYGGRVIDN WDKRCLKTLL YKFCNPEVLK DDFSFSRSAS
IKDYIHIIQS LPDDDLPEVL GIHPEAIRSC WETQGEKFIE NLIAMQPKTT TANLMIRPEQ
SKDELVMEIL SDLLKRLPLT VEKEEIAVGT PSTLKSMMSS SIWESLSKNL KDHDPLIHCV
LLTFLKQEIK RFDKLLFVIH KSLKDLQLAI KGEIILTQEL EEIFNSFLNM RVPTLWQKHA
YRSCKPLSSW IDDLIQRLNF FNTWAKVAYT AIQRRYMRFV TVWKQSIPST SQKCKHPEDS
ENNFFEGFPS RYWLPAFFFP QAFLAAVLQD YGRSRGIAVD ALTFTHHVIS NTTDKDEKFS
VFMPKKLNIV RRAFKGSASS HTGVYIFGLF IEGARWNREQ KILEDSLPLE MCCDFPDIYF
LPTKISTKTP NASNQTDSEL YAFECPVYQT PERSRILATT GLPTNFLTSV YLSTKKPPSH
WITMRVALLC EKNEK*

speed

0.81 s

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

ENST00000430092

Genbank transcript ID

NM_001373

UniProt peptide

Q0VDD8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2482C>G
cDNA.2697C>G
g.183003C>G

AA changes

L828V Score: 32 explain score(s)

position(s) of altered AA
if AA alteration in CDS

828

frameshift

known variant

Reference ID: rs3105559

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1367	783	2150
ExAC	8332	2097	10429

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.493	1
	0.439	1
(flanking)	1.67	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor increased	183002	wt: 0.43 / mu: 0.92	wt: GAATTTCTGGAGCAT mu: GAATTTGTGGAGCAT	ATTT\|ctgg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

828

mutated

all conserved

828

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)	feature	details
1164	1171	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
1164	1171	MOTIF	GPAGTGKT motif (By similarity).	might get lost (downstream of altered splice site)
1427	1434	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
1818	1818	CARBOHYD	N-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

13548 / 13548

position (AA) of stopcodon in wt / mu AA sequence

4516 / 4516

position of stopcodon in wt / mu cDNA

13763 / 13763

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

216 / 216

chromosome

strand

last intron/exon boundary

13548

theoretical NMD boundary in CDS

13282

length of CDS

13548

coding sequence (CDS) position

2482

cDNA position
(for ins/del: last normal base / first normal base)

2697

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

mutated AA sequence

METFIPIDLT TENQEMDKEE TKTKPRLLRY EEKKYEDVKP LETQPAEIAE KETLEYKTVR
TFSESLKSEK TEDYLRESII QQHMVSPEPA SLKEKGKSRR KKDQTHACPN VRKARPVSYD
RTEPKDDDVI RNIIRLREKL GWQTILPQHS LKYGSSKIAI QKITLKKPLE DDGEFVYCLP
RKSPKSLYNP YDLQVVSAHT AKHCKEFWVI TASFISKVIN IVGSVKEVEL IPTLEWLSER
RHYYLLRQFK IFSDFRMNKA FVTWKLNVKR IKTEKSRSFL YHHLFLADDL FQTCLVYIRG
LCEDAINLKN YNDHENNLSA ICLVKLDSSR TYSLDEFCEE QLQQATQALK QLEDIRNKAI
SEMKSTFLKV AEKNEIKEYF ESKLSEDDTT HFKLPKYRRL LETFFKFVML VDYIFQELIR
QLMNTAVTLL LELFNGSAGM PFSVEKKNEN LIRTFKDNSF PTGKTTNDCE ELVDNSKLHA
ISVQKSEVKT DTDINEILNS VEVGKDLRKT YAPIFEVNLC LRIPAESDSS ENSKENFHES
DQCPEECVMF EDEMSENKDN CVKKHSSEEL LPKAKKSKEI SYNLEDIISD TEIETEFENK
YMYYEFPEFP TNLFIDPNRL EFSVKIQNML TNMEKCITTI TPLCQDPQLS IFIDLVSIMD
LPNKTGSIIH YKEQTRWPDC HILFETDPAY QNIIVNLLTI IGNSMGLVNA YSHKFIKYCT
MTEKAKIMSM KISSMGELTS KEFEAILNRF RNYFRHIVNM AIEKRIGIFN VVSLDYQSEC
LLYIDNVIHM SHTLIQSVIE KKNKNLLEVV ESSLQQLECD PTEIEEFVEH FIFLNAISSK
ISKLEKEFLT MSQLYSVAKH HQIHISEEQI AIFQVLLLKF SQLKSSMKLS KINKDTAITK
FRDNLEACIS GLHVDVGNLK AKIRTPLLLC AGTQVSTAME MIQTLSGEAA SLTNKAKAYS
HYQDCFSDSQ SHMHSVNVEE ITQIVLSEIS DIEGDLTLRK KLWEAQEEWK RASWEWRNSS
LQSIDVESVQ RNVSKLMHII SVLEKGLPKS DMVTHLKQVV TEFKQELPII IALGNPCLKP
RHWEALQEII GKSVPLDKNC KVENLLALKM FQYENEINDM STSATNEAAL EKMLFKIIDF
WNTTPLPLIL HHTEIYSIFI IPSIDDISAQ LEESQVILAT IKGSPHIGPI KDLVNEWDQN
LTLFSYTLEE WMNCQRNWLY LEPVFHSSEI RRQLPAETEL FSQVISMWKK IMSKIQNKQN
ALQITTSAGV LEILQNCNIH LEHIKKSLED YLEVKRLIFP RFYFLSNAEL LDILADSRNP
ESVQPHLVKC FENIKQLLIW KQDIGPPAVK MLISAEGEGL VLPKKIRVRS AVEQWLVNVE
KSMFDVLKKE RYIYNIILLF QSQIMFYNDC VKSFVSSYSR EKLEKVHAGL MCHLEEVADL
VVLDTSNSRT KAILGALLIL YVHCRDIVIN LLLKNIFNAE DFEWTRHLQY KWNEKQKLCY
VSQGNASFTY GYEYLGCTSR LVITPLTDRC WLTLMEALHL NLGGCPAGPA GTGKTETVKD
LAKSLGKHCV VFNCFEDLDY KIVRKFFFGL VQSGAWSCFD EFNLIDLEVL SVIASQILTI
KAAKDNYSAR FVLEGKEIRI NMSCAVFITM NPRYGGGVEL PDNLKSLFRP VAMMVPHYQM
IAEIILFSFG FKSANSLSGK LTNLYELARK QLSQQDHYNF GLRSLKIVLI MAGTKKREFK
CLSEADETLI VIEAIREASL PKCPPEDVPL FENIIGDIFP EVTVLKVNQL ALEKVIYTAT
QQLGLQNWSS QKEKIIQFYN QLQVCVGVML VGPTGGGKTT VRRILEKALT LLPIADFLSV
AERKSASKIS ERKGKVDICV LNPKCVTLSE LYGQLDPNTM EWTDGLLSAT IRSYVYFNTP
KNTKKDIDLR LKSRISDLSN VFKLDSSDTT ETDDNIFEEI EKVVKIPENH NFDWQWIILD
GPVDTFWVEN LNSVLDDTRT LCLANSERIA LTNKIRVIFE VDNLSQASPA TVSRCAMVYM
DPVDLGWEPY VKSWLLKTSK IISQSGVDCL EFMIKNSVTD GLQFIRNRQK FQPYPMEDIT
VVITLCRILD AFFDFMGKNG GFEQSDDLND TSSKEANSQR ESVTFKDIEK RDENTWYPEK
NPDKLTKIIQ KLFVFAFTWA FGGALNREDE HRENIPFCPS LEPDSLAKVT YDFDKLVHEL
FGNSSQVGWK HWGQSQGRRR KGNCINLPTG ECSIFGYFVD IEQCEFIPWS DLVPNDQTLI
QRGTSLLTNL QRSGGNFLKI TECGECINYT ATRDTTCLSF LMSLLLKNSC PVLLTGESGV
GKTAAINQML EKLEGPGAFD IKHGSILGDT LLYSEIKKSS SLKQNITILI PETHKTATGS
SDNPTKKPEV RTNKKLLKNN DHKGVVVSTI NFSTNVTAAK TKEMILKKLI RRTKDTLGAP
KNNRILIFID DMNMPVSDMY GAQPPLELIR QLLDLGGVYD TEKNTWKNIQ DLSIVAACVP
VVNDISPRLL KHFSMLVLPH PSQDILCTIF QAHLGIYFSI NNFTPEVQKS KDQIISCSLA
IYHQVRQNML PTPTKCHYMF NLRDMFKLLL GLLQADRTVV NSKEMAALLF VHEATRVFHD
RLIDFTDKSL FYRLLSRELE NCFQIGIDGC GKKTCATLAC YLTDNKLYRV PISHKCAYIE
FKEVFKKVFI HAGLKGKPTV LMVPNLNIEQ DSFLEDLNYI ISSGRIPDLF ENVELDSIAM
KIRYLTEQSG HMDNRQSLLS FFQKRIYKNL HIFVIMSPEG PSFRQNCRVY PSMISSCTID
WYERWPEEAL LIVANSFLKE KVNFENRENL KEKLAPTCVQ IHKSMKDLNR KYFEETGRFY
YTTPNSYLQF METFAHILRA REEEMQTKRD RFHMGLSTIL EATTLVTEMQ EELLILGPQV
EQKTKETETL MEKLRKDSQV VEKVQMLVKQ DEEIVAEEVR IVEDYAQKTA NELKSVLPAF
DKAIVALNAL DKADVAELRV YTRPPFLVLT VMNAVCILLQ KKPNWATAKL LLSETGFLKK
LINLDKDSIP DKVFVKLKKI VTLPDFNPHK ISLVSVACCS LCQWVIALNN YHEVQKVVGP
KQIQVAEAQN VLKIARQRLA EKQRGLQLVE EHLLFLQAAY KDTVAEKQLL ANRKTMASRR
FQCASVLLTV LEDEKTRWQE TINQIDNKLE GILGDILLSA ACIVYSGILT PEFRQLIVNK
WETFCIENGI SLSSKFSLIK VMAQKYEISR WHNQGLPHGQ YSVENAILIK NGQQWPLLID
PHRQAHKWIR QMEGSRLQKL SIEDSNYTKK IENAMKTGGS VLLQNLLETL APGLKAILKK
DIYQKKGHYF IRVGDAEFEY NSNFRLYLST EIDNPHFLPS VYNFVTMINF TVTFQGLQDQ
LLSTVVTHEV PHLEDQRSKL LESISLDAIT LEELEEKTLN LLQKALGSIL DDDKIVDTLR
KSKMTSNEIS KRIEATKKAE SEIQAIRKNY LPIATRGALL YFLVADLTQI NYMYQFSLDW
FHQVFVSSVV SKSKEQEHSF KREKVSPKEV HEFISISKEP NLENEKNLLD KHIKSAIDML
TKSIFKVVSS ALFNEDKLCF SFRLCTVIMQ NNANGNLIQD DIGFLPEEEW NIFLYSGILI
NIKSALSQSR LTSTFEIGES QHLQWLSDSR WRQCQYVSTH LEPFSLLCKS LLSNVSQWDT
FKNSKAVYSL ISTPFSSENA SLEENTKPPE ETELLNENKE TCNPINFPWE KLTSFQRLIL
VKVLRPESLN NSVRKFITEK MGNKYLQRTG VNLKDAYKGS NARTPLILIQ THGIDLTNIL
LRFAQELKGT THHVTIISLG RDQAAKAEDL ILKALTKTQQ WVFLQNCHLA TSFMPRLCTI
VESFNSPNVT IDPEFRLWLS SKSYSSFPIP VLKKGLKIAV ESPQGLKSNL LQTFGCTGSG
EVTEEIFENP DCGQWWKKLL FSLCFFNAVI NERKNYGILG WNIAYKFNSS DLGVAIKVLE
NSLRGQPSIS WQALRYLIGE VIYGGRVIDN WDKRCLKTLL YKFCNPEVLK DDFSFSRSAS
IKDYIHIIQS LPDDDLPEVL GIHPEAIRSC WETQGEKFIE NLIAMQPKTT TANLMIRPEQ
SKDELVMEIL SDLLKRLPLT VEKEEIAVGT PSTLKSMMSS SIWESLSKNL KDHDPLIHCV
LLTFLKQEIK RFDKLLFVIH KSLKDLQLAI KGEIILTQEL EEIFNSFLNM RVPTLWQKHA
YRSCKPLSSW IDDLIQRLNF FNTWAKVAYT AIQRRYMRFV TVWKQSIPST SQKCKHPEDS
ENNFFEGFPS RYWLPAFFFP QAFLAAVLQD YGRSRGIAVD ALTFTHHVIS NTTDKDEKFS
VFMPKKLNIV RRAFKGSASS HTGVYIFGLF IEGARWNREQ KILEDSLPLE MCCDFPDIYF
LPTKISTKTP NASNQTDSEL YAFECPVYQT PERSRILATT GLPTNFLTSV YLSTKKPPSH
WITMRVALLC EKNEK*

speed

0.87 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems