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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000527990
Querying Taster for transcript #2: ENST00000254579
MT speed 0 s - this script 3.853899 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
DNHD1	polymorphism_automatic	5.34656985351489e-10	simple_aae		affected		G769R	single base exchange	rs2344829		show file
DNHD1	polymorphism_automatic	5.34656985351489e-10	simple_aae		affected		G769R	single base exchange	rs2344829		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999465343 (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)

chr11:6550309G>AN/A show variant in all transcripts IGV

HGNC symbol

DNHD1

Ensembl transcript ID

ENST00000527990

Genbank transcript ID

N/A

UniProt peptide

Q96M86

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2305G>A
cDNA.2305G>A
g.31820G>A

AA changes

G769R Score: 125 explain score(s)

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

769

frameshift

known variant

Reference ID: rs2344829

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1313	956	2269
ExAC	5162	3929	9091

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.6	0.285
	0.324	0.215
(flanking)	-0.433	0.172

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
Acc increased	31814	wt: 0.30 / mu: 0.37	wt: TGCCTATCGAGTTGCTCACAAAAGGCGGGTTGCTGCTACTT mu: TGCCTATCGAGTTGCTCACAAAAGGCAGGTTGCTGCTACTT	acaa\|AAGG
Donor marginally increased	31816	wt: 0.9179 / mu: 0.9933 (marginal change - not scored)	wt: ACAAAAGGCGGGTTG mu: ACAAAAGGCAGGTTG	AAAA\|ggcg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

769

mutated

not conserved

769

Ptroglodytes

not conserved

ENSPTRG00000003295

769

Mmulatta

no alignment

ENSMMUG00000007736

n/a

Fcatus

no alignment

ENSFCAG00000004640

n/a

Mmusculus

not conserved

ENSMUSG00000030882

805

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
826	858	COILED	Potential.	might get lost (downstream of altered splice site)
886	896	COMPBIAS	Poly-Pro.	might get lost (downstream of altered splice site)
936	991	COILED	Potential.	might get lost (downstream of altered splice site)
1312	1312	CONFLICT	V -> P (in Ref. 5; BAB85004).	might get lost (downstream of altered splice site)
1909	1909	CONFLICT	A -> AALLH (in Ref. 5; BAB85004 and 6; CAB70845).	might get lost (downstream of altered splice site)
2261	2261	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2266	2266	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2270	2270	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2695	2732	COMPBIAS	Glu-rich.	might get lost (downstream of altered splice site)
3125	3227	COILED	Potential.	might get lost (downstream of altered splice site)
3590	3651	COILED	Potential.	might get lost (downstream of altered splice site)
4431	4460	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

14262 / 14262

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

4754 / 4754

position of stopcodon in wt / mu cDNA

14262 / 14262

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

13912

theoretical NMD boundary in CDS

13861

length of CDS

14262

coding sequence (CDS) position

2305

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

2305

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

31820

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

6550309

original gDNA sequence snippet

TCGAGTTGCTCACAAAAGGCGGGTTGCTGCTACTTAGCTGC

altered gDNA sequence snippet

TCGAGTTGCTCACAAAAGGCAGGTTGCTGCTACTTAGCTGC

original cDNA sequence snippet

TCGAGTTGCTCACAAAAGGCGGGTTGCTGCTACTTAGCTGC

altered cDNA sequence snippet

TCGAGTTGCTCACAAAAGGCAGGTTGCTGCTACTTAGCTGC

wildtype AA sequence

MVPEERRVGL SSDETSSDSL KSWHSICVLD SKEQPLACQQ KQRQFVKPVT ESEQPTVLEL
LLAELRTLFS AVLQDSSPAA WRYLHAVLGL LPPYRELLVG HLDLLPFLEQ LYCWAPWVQT
HLHLDLLGAI VQAFPPDSSL LDSASHADCC PQKRRLHHRP PCPACPFVQA QWSRQQVKEE
LATWLRPLTL PELQRCLGIV GAQVALEEAV WLDGLSLLPL ALAADIPVRY ESSDTDNAEV
EPVGRKETRS QLDYEVPREK AFQKSSTGFS PETSFLDSQV MTALKMERYL KKIHFLYLNV
APSRYFRPYS LMVVPPDKVN PEHYIFSPFG ILHVHPVEGS ETMTLGTWHH HCVLWQQLQF
IPFFKYCLLR KSFTCWKKNV RLQGLHRLQK FLENHLLLAV PHFGAGLLHI SRLLQELHSV
SWLPQELDRC YELLDLQTAL AEEKHKALRL LHRCLNLCTS ILRLVHEDTY HMQQCLQERV
QNCDRIRTGQ GSIYLQRVQH KQLEQKLKQA EAWWLQLGKF ARLVDYMICQ SLISVLEEQI
TSFVANILQA PRQKPFLSSQ LVFDDHGQLS HVPCVENMIQ TLTGGLQSVK TSALQVVQSA
DLKTSSDSLY SEEEDEEEDS KDEFLMPKFQ GQPSDAVSIF CGPNVGLVWP WKSHPIAGIL
EVRGCRLRGQ YFPHNYKQLE EDLDNNPKIQ QALNIQQVLL EGVLCKVQEF CREHHWITGI
YEFLQSWGPQ KLEDMRGGPI KNYVTLVSRL NVWQARVSSM PIELLTKGGL LLLSCHDVQA
EMESKLNSIR KDILAHVQNE CWNLSQQLMT ELTDFMHIFR TINSDIHAIA QCTQKLNEAN
EQYVELEERM EYVRALHELI RNHFSLFSAE NEALDISVRR QFGESPIPPC PPPPQPHLLH
CPLLAPQLLD MWEAFQFEKS QASEFLLSKR HAIMPKLQQL MAAALAELEG LLAKALSGPF
MDPTQDQRST EHQLVSLERQ FQNTVSDLSE LHHAYAIFTE DETPVPLPIC GTRPIVQQQR
IWHLYRVISE NISEWKCMAF AKFSPAMAQE KTEGWLTEAA RMSTTLELHS PVLQHCMRIL
GEFRSYLPLL TKLGSLHPQS LNCQCLLRAL GLGSLQTIEL LTLGQLLTYP LLEFADRINQ
VWQNENERIH AQETIRRLQR YWEARQLRLL NFILHVPYEP PASERSKRQV LRSPQWEVVD
KDSGTFILSD YSNLQDSIQE SLQVLSKILA IEKSGDLNKI ALEWVAIMHG LGALLEVWLT
FQQKWIFLNK VLHEMKIQFP NADLNSRFKV MDDQYRTLMR ISVADPMVLS LVVPSAERSP
YFQGQQLQQL LQAGSVELEG IIMSLESVLY GVCAHFPRLF FLSDSELVAL LAARLESCEA
QLWVRRCFPH VHAVSFRSCP TGEKNTDDWE SSPNTQTQVE ALAVLGAGGE EVKLQGPLPL
HPDLPKWLAS LEKCLRLALV HMLQGCVAAR LARGPSLGEA LKQLPKQNKL YLQLYVQHWI
DLVQAFPWQC VLVAEEVVWR AEMEEALLEW GTLAMVSMHM RKLEVLVNFM RAQRASQGGQ
SLPSVRQTSL LSALLVMAVT HRDIAQLLEQ HQVSDLTDFH WVRQLKYHLG SPHIIPKSPL
QSLKTIASSE PSLSPAACWI DVLGRSFLYN YEYLGPRLGP LPSLLPERPA LVLLLALEEV
ACGTVLGPNG VGKRAIVNSL AQALGRQLVM LPCSPQIEAQ CLSNYLNGAL QGGAWLLLEK
VHQLPPGLLS ALGQRLGELH HLYAPLYQEA SRNTSTIDPT QPQLLGSSFF EKHHVSVRLG
YGCLLVLRAL SSAVPANLHL LLRPVALALP DLRQVAELTL LGAGMRDAFQ MATRLSKFFS
LERELVSGPL PCRLPLLKQI LEDTIRTLNV TKEEPKCQKP RSLAAIEEAA LLRSPLFSIL
NGLHLHNLRG LLCALFPSAS QVLAEPMTYK LMKPLVVEEL QQVGLDPSPD ILGSLEQLSQ
ALSRASGILL LGPAGSGKTT CWHSLFKIQN RLAAMEDTST QGCQPVEITH LYPSGLSPQE
FLGWLEGSCW HHGIFPKVLR AAGQCNNMGQ KRQTEESIGI QHWIICDGAS NGAWLDSITC
LLSELPQLSL PSGQQIARPP GTFLLMEVAD TTGISPTVVG CCALVWCGGE QTWQCILSAL
MASLPYEYRL QHRTVAELNH MAEVLVPATL RFLTCQGVSS LLQVHGQQAV CAGVAEVTSM
ARILHSLLDL HLRLKEEKAP GPEDLSYSDP VAQSFRSSKS SFLNRSQVDS DDVPDKCREH
LLAVSSFLFA LIWGFGAHLP SRFWPIFDTF IRDSISRLSN YPEPPPSALV FDLHVSPEDG
TLVPFTGQYL SSHIKGTLGT FHPSIQTERL LYVVDLLLSG GQPVLLAGEA ATGKSAFVEV
LVEPHHPYIY SPIHPAFSSS HLRLLLSRGI QGQTQASPQP GHHQDSKPSL LFLLEDLHLA
TSDPEKSCQP VLETLRQAMD GTVYAHSTLE LQTLQPTVNF LATVTVPGYC ERPLCPRLFR
LFTVLALESM TQATLLERHV PIIQAWLERF PSVERERALA RGLVRASVEA WEAVCNCFMP
SPLHPHYHFS LHSVSHLLSS LQLLPNRTGS RGFVDYPNHQ EHLRRVSGLR GTCLTVMMAT
RNVVRLWLHE AQRTFCDRLD SPRERSYCAK LLLVVAQSVF CCGPGPQHLG KDHQESEEEE
EEERVPEVES EGELAQWEDF SNSNSETEEE EEPYGLQVAR VSNSRDPSLT PSIGPVSRGM
KESISHKIRQ EKGTRASNYR LQVRRSFKTW WQKKPQMDLI SPLLLPVLLL HPQEKPSDLV
FSQELILGPN SETPNLYLER QWEKLEEQLA TSAAQLKLSP HLARCHSMAQ HVARLVRVLA
RPRQHGLLLS GALGTGRHTA ITLASSICQA HFFHLPSGSE EAILQCLRDA SWHAGMLSQP
VALLVPSGVD LTTLHRLLAL ATSGSFPGQY TEADLDRIGE HLPRENLGVK QNIKKEMVLQ
RFHQQVCSHL HLFFLIGDKQ AHKQLPSTLF LRLLQLATAS IDRYEPWDQA ALAKVAQHHL
EGAQSVPLDD GSWKYPDLQA SIPSVAKAMA LIHLSATHYH EHLCPALPLV TPKTFLDFLD
TFLMLQQQTI LKIKNKAQRV QNALENLRML IKEHGTHANL IFDLEQQLKD SGKSLSMFQQ
QLEQSKLLYK QQLEECRHQE NLIENLARQR DALQAQREAF LEQMSKAFLE PLSQLQVADF
EEIRSYRAPP ESVVRVTDAM CDLFHHETGW ASAKQLLCTE DFYQELVFFP KEKITDSELI
KLHLILKAPG MDDAALRAVS RPAASLAAWL WAVLHYGLAH CRGLPTDLLL QQVEATLTRE
QARLGYYQFQ AQETLEHNLA LAKMVEDAQA SHNCVAKTLS QAQCGQYHKW PMKAALLTPM
RAWTTQLQKL KGRCMTVFGD TLLCSAAIIY LGPFPPLRRQ ELLDEWLALC RGFQEALGPD
DVAQALKRKQ KSVSIPPKNP LLATHSPFSI LSLLSSESEQ YQWDGNLKPQ AKSAHLAGLL
LRSPTHYSSC RWPLLLDPSN EALIWLDPLP LEENRSFAPA LTEGRGKGLM RNQKRESKTD
MKEEDDESEE SNEAEDQTKE QKAEERKNEQ EKEQEENEEK EEEKTESQGS KPAYETQLPS
LPYLSVLSGA DPELGSQLQE AAACGLPVLL TNVELGLGCE ELQWLLQREQ LSPPQVQPGF
CLYLSTTLSL CAMEKVLGCE LLKGLNVLDL GLNMEILEEQ MLHEILCREY PELETRWQDL
KIRALDTCKA VEAAEERLLT MLLFQNPKRQ KPAKFLRNIV RAQGKLCQLR AHCEELEGQK
LQEMVLWAPY RPVVWHGMAM VKALSQLQNL LPLFCMSPEN WLAVTKQALD SMKPREINHG
EDLASHLLQL RAHLTRQLLG STVTALGLTQ VPLVGALGAL ALLQATGKAS ELERLALWPG
LAASPSTVHS KPVSDVARPA WLGPKAWHEC EMLELLPPFV GLCASLAGHS SAWQAYLSLS
STVLGPAPGP GPEPLSLLQK LILWRVLRPE CLAGALADFT TSLLGRPLDE NTYAPTMPFK
HSQATQPMLI LLPPPGHPSA TLHPLTVIQK LAAKYQQGQK QLQVIALGSE AWDPVSVVVS
TLSQAMYEGH WLVLDNCHLM PHWPKELLQL LLELLGRAKV VADLESEQLL DQPESRNVST
VHRDFRLWLI VPAESSASLP AVLTQHSMPV FWNQSLELGH VLIDSVELAQ QVLYMQPPTQ
ALPLLLLHGL LLHRQLYGTR LQAHRGRWSQ VTLTQVLQTQ DQLWASLSNP RAAMQELAAS
VFYGGPLGDT EDREALISLT QACLSPSSGS WVQPHTPQSL LATLMPLPEL RELDAMAECK
AQMHLLPSPP EPRLCGLSEG PQAWLLRRQS RALLSALQRS SPVWVPESRR GAQLAERRLR
QRLVQVNRRL ESLQDLLTHV IRQDESDAPW SVLGPNARRP LEGVLETEAL ELSQLVGTLQ
RDLDCLLQQL KGAPPCPSRR CAAVAHALWT GRLPLPWRPH APAGPQPPWH WLRQLSRRGQ
LLVRYLGVGA DASSDVPERV FHLSAFRHPR RLLLALRGEA ALDQNVPSSN FPGSRGSVSS
QLQYKRLEMN SNPLHFRVEN GPNPTVPERG LLLIGLQVLH AEWDPIAGAL QDSPSSQPSP
LPPVSISTQA PGTSDLPAPA DLTVYSCPVY MGGPLGTAKL QSRNIVMHLP LPTKLTPNTC
VQRRVHVCSP PLS*

mutated AA sequence

MVPEERRVGL SSDETSSDSL KSWHSICVLD SKEQPLACQQ KQRQFVKPVT ESEQPTVLEL
LLAELRTLFS AVLQDSSPAA WRYLHAVLGL LPPYRELLVG HLDLLPFLEQ LYCWAPWVQT
HLHLDLLGAI VQAFPPDSSL LDSASHADCC PQKRRLHHRP PCPACPFVQA QWSRQQVKEE
LATWLRPLTL PELQRCLGIV GAQVALEEAV WLDGLSLLPL ALAADIPVRY ESSDTDNAEV
EPVGRKETRS QLDYEVPREK AFQKSSTGFS PETSFLDSQV MTALKMERYL KKIHFLYLNV
APSRYFRPYS LMVVPPDKVN PEHYIFSPFG ILHVHPVEGS ETMTLGTWHH HCVLWQQLQF
IPFFKYCLLR KSFTCWKKNV RLQGLHRLQK FLENHLLLAV PHFGAGLLHI SRLLQELHSV
SWLPQELDRC YELLDLQTAL AEEKHKALRL LHRCLNLCTS ILRLVHEDTY HMQQCLQERV
QNCDRIRTGQ GSIYLQRVQH KQLEQKLKQA EAWWLQLGKF ARLVDYMICQ SLISVLEEQI
TSFVANILQA PRQKPFLSSQ LVFDDHGQLS HVPCVENMIQ TLTGGLQSVK TSALQVVQSA
DLKTSSDSLY SEEEDEEEDS KDEFLMPKFQ GQPSDAVSIF CGPNVGLVWP WKSHPIAGIL
EVRGCRLRGQ YFPHNYKQLE EDLDNNPKIQ QALNIQQVLL EGVLCKVQEF CREHHWITGI
YEFLQSWGPQ KLEDMRGGPI KNYVTLVSRL NVWQARVSSM PIELLTKGRL LLLSCHDVQA
EMESKLNSIR KDILAHVQNE CWNLSQQLMT ELTDFMHIFR TINSDIHAIA QCTQKLNEAN
EQYVELEERM EYVRALHELI RNHFSLFSAE NEALDISVRR QFGESPIPPC PPPPQPHLLH
CPLLAPQLLD MWEAFQFEKS QASEFLLSKR HAIMPKLQQL MAAALAELEG LLAKALSGPF
MDPTQDQRST EHQLVSLERQ FQNTVSDLSE LHHAYAIFTE DETPVPLPIC GTRPIVQQQR
IWHLYRVISE NISEWKCMAF AKFSPAMAQE KTEGWLTEAA RMSTTLELHS PVLQHCMRIL
GEFRSYLPLL TKLGSLHPQS LNCQCLLRAL GLGSLQTIEL LTLGQLLTYP LLEFADRINQ
VWQNENERIH AQETIRRLQR YWEARQLRLL NFILHVPYEP PASERSKRQV LRSPQWEVVD
KDSGTFILSD YSNLQDSIQE SLQVLSKILA IEKSGDLNKI ALEWVAIMHG LGALLEVWLT
FQQKWIFLNK VLHEMKIQFP NADLNSRFKV MDDQYRTLMR ISVADPMVLS LVVPSAERSP
YFQGQQLQQL LQAGSVELEG IIMSLESVLY GVCAHFPRLF FLSDSELVAL LAARLESCEA
QLWVRRCFPH VHAVSFRSCP TGEKNTDDWE SSPNTQTQVE ALAVLGAGGE EVKLQGPLPL
HPDLPKWLAS LEKCLRLALV HMLQGCVAAR LARGPSLGEA LKQLPKQNKL YLQLYVQHWI
DLVQAFPWQC VLVAEEVVWR AEMEEALLEW GTLAMVSMHM RKLEVLVNFM RAQRASQGGQ
SLPSVRQTSL LSALLVMAVT HRDIAQLLEQ HQVSDLTDFH WVRQLKYHLG SPHIIPKSPL
QSLKTIASSE PSLSPAACWI DVLGRSFLYN YEYLGPRLGP LPSLLPERPA LVLLLALEEV
ACGTVLGPNG VGKRAIVNSL AQALGRQLVM LPCSPQIEAQ CLSNYLNGAL QGGAWLLLEK
VHQLPPGLLS ALGQRLGELH HLYAPLYQEA SRNTSTIDPT QPQLLGSSFF EKHHVSVRLG
YGCLLVLRAL SSAVPANLHL LLRPVALALP DLRQVAELTL LGAGMRDAFQ MATRLSKFFS
LERELVSGPL PCRLPLLKQI LEDTIRTLNV TKEEPKCQKP RSLAAIEEAA LLRSPLFSIL
NGLHLHNLRG LLCALFPSAS QVLAEPMTYK LMKPLVVEEL QQVGLDPSPD ILGSLEQLSQ
ALSRASGILL LGPAGSGKTT CWHSLFKIQN RLAAMEDTST QGCQPVEITH LYPSGLSPQE
FLGWLEGSCW HHGIFPKVLR AAGQCNNMGQ KRQTEESIGI QHWIICDGAS NGAWLDSITC
LLSELPQLSL PSGQQIARPP GTFLLMEVAD TTGISPTVVG CCALVWCGGE QTWQCILSAL
MASLPYEYRL QHRTVAELNH MAEVLVPATL RFLTCQGVSS LLQVHGQQAV CAGVAEVTSM
ARILHSLLDL HLRLKEEKAP GPEDLSYSDP VAQSFRSSKS SFLNRSQVDS DDVPDKCREH
LLAVSSFLFA LIWGFGAHLP SRFWPIFDTF IRDSISRLSN YPEPPPSALV FDLHVSPEDG
TLVPFTGQYL SSHIKGTLGT FHPSIQTERL LYVVDLLLSG GQPVLLAGEA ATGKSAFVEV
LVEPHHPYIY SPIHPAFSSS HLRLLLSRGI QGQTQASPQP GHHQDSKPSL LFLLEDLHLA
TSDPEKSCQP VLETLRQAMD GTVYAHSTLE LQTLQPTVNF LATVTVPGYC ERPLCPRLFR
LFTVLALESM TQATLLERHV PIIQAWLERF PSVERERALA RGLVRASVEA WEAVCNCFMP
SPLHPHYHFS LHSVSHLLSS LQLLPNRTGS RGFVDYPNHQ EHLRRVSGLR GTCLTVMMAT
RNVVRLWLHE AQRTFCDRLD SPRERSYCAK LLLVVAQSVF CCGPGPQHLG KDHQESEEEE
EEERVPEVES EGELAQWEDF SNSNSETEEE EEPYGLQVAR VSNSRDPSLT PSIGPVSRGM
KESISHKIRQ EKGTRASNYR LQVRRSFKTW WQKKPQMDLI SPLLLPVLLL HPQEKPSDLV
FSQELILGPN SETPNLYLER QWEKLEEQLA TSAAQLKLSP HLARCHSMAQ HVARLVRVLA
RPRQHGLLLS GALGTGRHTA ITLASSICQA HFFHLPSGSE EAILQCLRDA SWHAGMLSQP
VALLVPSGVD LTTLHRLLAL ATSGSFPGQY TEADLDRIGE HLPRENLGVK QNIKKEMVLQ
RFHQQVCSHL HLFFLIGDKQ AHKQLPSTLF LRLLQLATAS IDRYEPWDQA ALAKVAQHHL
EGAQSVPLDD GSWKYPDLQA SIPSVAKAMA LIHLSATHYH EHLCPALPLV TPKTFLDFLD
TFLMLQQQTI LKIKNKAQRV QNALENLRML IKEHGTHANL IFDLEQQLKD SGKSLSMFQQ
QLEQSKLLYK QQLEECRHQE NLIENLARQR DALQAQREAF LEQMSKAFLE PLSQLQVADF
EEIRSYRAPP ESVVRVTDAM CDLFHHETGW ASAKQLLCTE DFYQELVFFP KEKITDSELI
KLHLILKAPG MDDAALRAVS RPAASLAAWL WAVLHYGLAH CRGLPTDLLL QQVEATLTRE
QARLGYYQFQ AQETLEHNLA LAKMVEDAQA SHNCVAKTLS QAQCGQYHKW PMKAALLTPM
RAWTTQLQKL KGRCMTVFGD TLLCSAAIIY LGPFPPLRRQ ELLDEWLALC RGFQEALGPD
DVAQALKRKQ KSVSIPPKNP LLATHSPFSI LSLLSSESEQ YQWDGNLKPQ AKSAHLAGLL
LRSPTHYSSC RWPLLLDPSN EALIWLDPLP LEENRSFAPA LTEGRGKGLM RNQKRESKTD
MKEEDDESEE SNEAEDQTKE QKAEERKNEQ EKEQEENEEK EEEKTESQGS KPAYETQLPS
LPYLSVLSGA DPELGSQLQE AAACGLPVLL TNVELGLGCE ELQWLLQREQ LSPPQVQPGF
CLYLSTTLSL CAMEKVLGCE LLKGLNVLDL GLNMEILEEQ MLHEILCREY PELETRWQDL
KIRALDTCKA VEAAEERLLT MLLFQNPKRQ KPAKFLRNIV RAQGKLCQLR AHCEELEGQK
LQEMVLWAPY RPVVWHGMAM VKALSQLQNL LPLFCMSPEN WLAVTKQALD SMKPREINHG
EDLASHLLQL RAHLTRQLLG STVTALGLTQ VPLVGALGAL ALLQATGKAS ELERLALWPG
LAASPSTVHS KPVSDVARPA WLGPKAWHEC EMLELLPPFV GLCASLAGHS SAWQAYLSLS
STVLGPAPGP GPEPLSLLQK LILWRVLRPE CLAGALADFT TSLLGRPLDE NTYAPTMPFK
HSQATQPMLI LLPPPGHPSA TLHPLTVIQK LAAKYQQGQK QLQVIALGSE AWDPVSVVVS
TLSQAMYEGH WLVLDNCHLM PHWPKELLQL LLELLGRAKV VADLESEQLL DQPESRNVST
VHRDFRLWLI VPAESSASLP AVLTQHSMPV FWNQSLELGH VLIDSVELAQ QVLYMQPPTQ
ALPLLLLHGL LLHRQLYGTR LQAHRGRWSQ VTLTQVLQTQ DQLWASLSNP RAAMQELAAS
VFYGGPLGDT EDREALISLT QACLSPSSGS WVQPHTPQSL LATLMPLPEL RELDAMAECK
AQMHLLPSPP EPRLCGLSEG PQAWLLRRQS RALLSALQRS SPVWVPESRR GAQLAERRLR
QRLVQVNRRL ESLQDLLTHV IRQDESDAPW SVLGPNARRP LEGVLETEAL ELSQLVGTLQ
RDLDCLLQQL KGAPPCPSRR CAAVAHALWT GRLPLPWRPH APAGPQPPWH WLRQLSRRGQ
LLVRYLGVGA DASSDVPERV FHLSAFRHPR RLLLALRGEA ALDQNVPSSN FPGSRGSVSS
QLQYKRLEMN SNPLHFRVEN GPNPTVPERG LLLIGLQVLH AEWDPIAGAL QDSPSSQPSP
LPPVSISTQA PGTSDLPAPA DLTVYSCPVY MGGPLGTAKL QSRNIVMHLP LPTKLTPNTC
VQRRVHVCSP PLS*

speed

0.92 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: 0.999999999465343 (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)

chr11:6550309G>AN/A show variant in all transcripts IGV

HGNC symbol

DNHD1

Ensembl transcript ID

ENST00000254579

Genbank transcript ID

NM_144666

UniProt peptide

Q96M86

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2305G>A
cDNA.2869G>A
g.31820G>A

AA changes

G769R Score: 125 explain score(s)

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

769

frameshift

known variant

Reference ID: rs2344829

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1313	956	2269
ExAC	5162	3929	9091

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.6	0.285
	0.324	0.215
(flanking)	-0.433	0.172

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
Acc increased	31814	wt: 0.30 / mu: 0.37	wt: TGCCTATCGAGTTGCTCACAAAAGGCGGGTTGCTGCTACTT mu: TGCCTATCGAGTTGCTCACAAAAGGCAGGTTGCTGCTACTT	acaa\|AAGG
Donor marginally increased	31816	wt: 0.9179 / mu: 0.9933 (marginal change - not scored)	wt: ACAAAAGGCGGGTTG mu: ACAAAAGGCAGGTTG	AAAA\|ggcg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

769

mutated

not conserved

769

Ptroglodytes

not conserved

ENSPTRG00000003295

769

Mmulatta

no alignment

ENSMMUG00000007736

n/a

Fcatus

no alignment

ENSFCAG00000004640

n/a

Mmusculus

not conserved

ENSMUSG00000030882

805

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
826	858	COILED	Potential.	might get lost (downstream of altered splice site)
886	896	COMPBIAS	Poly-Pro.	might get lost (downstream of altered splice site)
936	991	COILED	Potential.	might get lost (downstream of altered splice site)
1312	1312	CONFLICT	V -> P (in Ref. 5; BAB85004).	might get lost (downstream of altered splice site)
1909	1909	CONFLICT	A -> AALLH (in Ref. 5; BAB85004 and 6; CAB70845).	might get lost (downstream of altered splice site)
2261	2261	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2266	2266	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2270	2270	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
2695	2732	COMPBIAS	Glu-rich.	might get lost (downstream of altered splice site)
3125	3227	COILED	Potential.	might get lost (downstream of altered splice site)
3590	3651	COILED	Potential.	might get lost (downstream of altered splice site)
4431	4460	COILED	Potential.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

14262 / 14262

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

4754 / 4754

position of stopcodon in wt / mu cDNA

14826 / 14826

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

565 / 565

chromosome

strand

last intron/exon boundary

14476

theoretical NMD boundary in CDS

13861

length of CDS

14262

coding sequence (CDS) position

2305

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

2869

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

31820

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

6550309

original gDNA sequence snippet

TCGAGTTGCTCACAAAAGGCGGGTTGCTGCTACTTAGCTGC

altered gDNA sequence snippet

TCGAGTTGCTCACAAAAGGCAGGTTGCTGCTACTTAGCTGC

original cDNA sequence snippet

TCGAGTTGCTCACAAAAGGCGGGTTGCTGCTACTTAGCTGC

altered cDNA sequence snippet

TCGAGTTGCTCACAAAAGGCAGGTTGCTGCTACTTAGCTGC

wildtype AA sequence

mutated AA sequence

MVPEERRVGL SSDETSSDSL KSWHSICVLD SKEQPLACQQ KQRQFVKPVT ESEQPTVLEL
LLAELRTLFS AVLQDSSPAA WRYLHAVLGL LPPYRELLVG HLDLLPFLEQ LYCWAPWVQT
HLHLDLLGAI VQAFPPDSSL LDSASHADCC PQKRRLHHRP PCPACPFVQA QWSRQQVKEE
LATWLRPLTL PELQRCLGIV GAQVALEEAV WLDGLSLLPL ALAADIPVRY ESSDTDNAEV
EPVGRKETRS QLDYEVPREK AFQKSSTGFS PETSFLDSQV MTALKMERYL KKIHFLYLNV
APSRYFRPYS LMVVPPDKVN PEHYIFSPFG ILHVHPVEGS ETMTLGTWHH HCVLWQQLQF
IPFFKYCLLR KSFTCWKKNV RLQGLHRLQK FLENHLLLAV PHFGAGLLHI SRLLQELHSV
SWLPQELDRC YELLDLQTAL AEEKHKALRL LHRCLNLCTS ILRLVHEDTY HMQQCLQERV
QNCDRIRTGQ GSIYLQRVQH KQLEQKLKQA EAWWLQLGKF ARLVDYMICQ SLISVLEEQI
TSFVANILQA PRQKPFLSSQ LVFDDHGQLS HVPCVENMIQ TLTGGLQSVK TSALQVVQSA
DLKTSSDSLY SEEEDEEEDS KDEFLMPKFQ GQPSDAVSIF CGPNVGLVWP WKSHPIAGIL
EVRGCRLRGQ YFPHNYKQLE EDLDNNPKIQ QALNIQQVLL EGVLCKVQEF CREHHWITGI
YEFLQSWGPQ KLEDMRGGPI KNYVTLVSRL NVWQARVSSM PIELLTKGRL LLLSCHDVQA
EMESKLNSIR KDILAHVQNE CWNLSQQLMT ELTDFMHIFR TINSDIHAIA QCTQKLNEAN
EQYVELEERM EYVRALHELI RNHFSLFSAE NEALDISVRR QFGESPIPPC PPPPQPHLLH
CPLLAPQLLD MWEAFQFEKS QASEFLLSKR HAIMPKLQQL MAAALAELEG LLAKALSGPF
MDPTQDQRST EHQLVSLERQ FQNTVSDLSE LHHAYAIFTE DETPVPLPIC GTRPIVQQQR
IWHLYRVISE NISEWKCMAF AKFSPAMAQE KTEGWLTEAA RMSTTLELHS PVLQHCMRIL
GEFRSYLPLL TKLGSLHPQS LNCQCLLRAL GLGSLQTIEL LTLGQLLTYP LLEFADRINQ
VWQNENERIH AQETIRRLQR YWEARQLRLL NFILHVPYEP PASERSKRQV LRSPQWEVVD
KDSGTFILSD YSNLQDSIQE SLQVLSKILA IEKSGDLNKI ALEWVAIMHG LGALLEVWLT
FQQKWIFLNK VLHEMKIQFP NADLNSRFKV MDDQYRTLMR ISVADPMVLS LVVPSAERSP
YFQGQQLQQL LQAGSVELEG IIMSLESVLY GVCAHFPRLF FLSDSELVAL LAARLESCEA
QLWVRRCFPH VHAVSFRSCP TGEKNTDDWE SSPNTQTQVE ALAVLGAGGE EVKLQGPLPL
HPDLPKWLAS LEKCLRLALV HMLQGCVAAR LARGPSLGEA LKQLPKQNKL YLQLYVQHWI
DLVQAFPWQC VLVAEEVVWR AEMEEALLEW GTLAMVSMHM RKLEVLVNFM RAQRASQGGQ
SLPSVRQTSL LSALLVMAVT HRDIAQLLEQ HQVSDLTDFH WVRQLKYHLG SPHIIPKSPL
QSLKTIASSE PSLSPAACWI DVLGRSFLYN YEYLGPRLGP LPSLLPERPA LVLLLALEEV
ACGTVLGPNG VGKRAIVNSL AQALGRQLVM LPCSPQIEAQ CLSNYLNGAL QGGAWLLLEK
VHQLPPGLLS ALGQRLGELH HLYAPLYQEA SRNTSTIDPT QPQLLGSSFF EKHHVSVRLG
YGCLLVLRAL SSAVPANLHL LLRPVALALP DLRQVAELTL LGAGMRDAFQ MATRLSKFFS
LERELVSGPL PCRLPLLKQI LEDTIRTLNV TKEEPKCQKP RSLAAIEEAA LLRSPLFSIL
NGLHLHNLRG LLCALFPSAS QVLAEPMTYK LMKPLVVEEL QQVGLDPSPD ILGSLEQLSQ
ALSRASGILL LGPAGSGKTT CWHSLFKIQN RLAAMEDTST QGCQPVEITH LYPSGLSPQE
FLGWLEGSCW HHGIFPKVLR AAGQCNNMGQ KRQTEESIGI QHWIICDGAS NGAWLDSITC
LLSELPQLSL PSGQQIARPP GTFLLMEVAD TTGISPTVVG CCALVWCGGE QTWQCILSAL
MASLPYEYRL QHRTVAELNH MAEVLVPATL RFLTCQGVSS LLQVHGQQAV CAGVAEVTSM
ARILHSLLDL HLRLKEEKAP GPEDLSYSDP VAQSFRSSKS SFLNRSQVDS DDVPDKCREH
LLAVSSFLFA LIWGFGAHLP SRFWPIFDTF IRDSISRLSN YPEPPPSALV FDLHVSPEDG
TLVPFTGQYL SSHIKGTLGT FHPSIQTERL LYVVDLLLSG GQPVLLAGEA ATGKSAFVEV
LVEPHHPYIY SPIHPAFSSS HLRLLLSRGI QGQTQASPQP GHHQDSKPSL LFLLEDLHLA
TSDPEKSCQP VLETLRQAMD GTVYAHSTLE LQTLQPTVNF LATVTVPGYC ERPLCPRLFR
LFTVLALESM TQATLLERHV PIIQAWLERF PSVERERALA RGLVRASVEA WEAVCNCFMP
SPLHPHYHFS LHSVSHLLSS LQLLPNRTGS RGFVDYPNHQ EHLRRVSGLR GTCLTVMMAT
RNVVRLWLHE AQRTFCDRLD SPRERSYCAK LLLVVAQSVF CCGPGPQHLG KDHQESEEEE
EEERVPEVES EGELAQWEDF SNSNSETEEE EEPYGLQVAR VSNSRDPSLT PSIGPVSRGM
KESISHKIRQ EKGTRASNYR LQVRRSFKTW WQKKPQMDLI SPLLLPVLLL HPQEKPSDLV
FSQELILGPN SETPNLYLER QWEKLEEQLA TSAAQLKLSP HLARCHSMAQ HVARLVRVLA
RPRQHGLLLS GALGTGRHTA ITLASSICQA HFFHLPSGSE EAILQCLRDA SWHAGMLSQP
VALLVPSGVD LTTLHRLLAL ATSGSFPGQY TEADLDRIGE HLPRENLGVK QNIKKEMVLQ
RFHQQVCSHL HLFFLIGDKQ AHKQLPSTLF LRLLQLATAS IDRYEPWDQA ALAKVAQHHL
EGAQSVPLDD GSWKYPDLQA SIPSVAKAMA LIHLSATHYH EHLCPALPLV TPKTFLDFLD
TFLMLQQQTI LKIKNKAQRV QNALENLRML IKEHGTHANL IFDLEQQLKD SGKSLSMFQQ
QLEQSKLLYK QQLEECRHQE NLIENLARQR DALQAQREAF LEQMSKAFLE PLSQLQVADF
EEIRSYRAPP ESVVRVTDAM CDLFHHETGW ASAKQLLCTE DFYQELVFFP KEKITDSELI
KLHLILKAPG MDDAALRAVS RPAASLAAWL WAVLHYGLAH CRGLPTDLLL QQVEATLTRE
QARLGYYQFQ AQETLEHNLA LAKMVEDAQA SHNCVAKTLS QAQCGQYHKW PMKAALLTPM
RAWTTQLQKL KGRCMTVFGD TLLCSAAIIY LGPFPPLRRQ ELLDEWLALC RGFQEALGPD
DVAQALKRKQ KSVSIPPKNP LLATHSPFSI LSLLSSESEQ YQWDGNLKPQ AKSAHLAGLL
LRSPTHYSSC RWPLLLDPSN EALIWLDPLP LEENRSFAPA LTEGRGKGLM RNQKRESKTD
MKEEDDESEE SNEAEDQTKE QKAEERKNEQ EKEQEENEEK EEEKTESQGS KPAYETQLPS
LPYLSVLSGA DPELGSQLQE AAACGLPVLL TNVELGLGCE ELQWLLQREQ LSPPQVQPGF
CLYLSTTLSL CAMEKVLGCE LLKGLNVLDL GLNMEILEEQ MLHEILCREY PELETRWQDL
KIRALDTCKA VEAAEERLLT MLLFQNPKRQ KPAKFLRNIV RAQGKLCQLR AHCEELEGQK
LQEMVLWAPY RPVVWHGMAM VKALSQLQNL LPLFCMSPEN WLAVTKQALD SMKPREINHG
EDLASHLLQL RAHLTRQLLG STVTALGLTQ VPLVGALGAL ALLQATGKAS ELERLALWPG
LAASPSTVHS KPVSDVARPA WLGPKAWHEC EMLELLPPFV GLCASLAGHS SAWQAYLSLS
STVLGPAPGP GPEPLSLLQK LILWRVLRPE CLAGALADFT TSLLGRPLDE NTYAPTMPFK
HSQATQPMLI LLPPPGHPSA TLHPLTVIQK LAAKYQQGQK QLQVIALGSE AWDPVSVVVS
TLSQAMYEGH WLVLDNCHLM PHWPKELLQL LLELLGRAKV VADLESEQLL DQPESRNVST
VHRDFRLWLI VPAESSASLP AVLTQHSMPV FWNQSLELGH VLIDSVELAQ QVLYMQPPTQ
ALPLLLLHGL LLHRQLYGTR LQAHRGRWSQ VTLTQVLQTQ DQLWASLSNP RAAMQELAAS
VFYGGPLGDT EDREALISLT QACLSPSSGS WVQPHTPQSL LATLMPLPEL RELDAMAECK
AQMHLLPSPP EPRLCGLSEG PQAWLLRRQS RALLSALQRS SPVWVPESRR GAQLAERRLR
QRLVQVNRRL ESLQDLLTHV IRQDESDAPW SVLGPNARRP LEGVLETEAL ELSQLVGTLQ
RDLDCLLQQL KGAPPCPSRR CAAVAHALWT GRLPLPWRPH APAGPQPPWH WLRQLSRRGQ
LLVRYLGVGA DASSDVPERV FHLSAFRHPR RLLLALRGEA ALDQNVPSSN FPGSRGSVSS
QLQYKRLEMN SNPLHFRVEN GPNPTVPERG LLLIGLQVLH AEWDPIAGAL QDSPSSQPSP
LPPVSISTQA PGTSDLPAPA DLTVYSCPVY MGGPLGTAKL QSRNIVMHLP LPTKLTPNTC
VQRRVHVCSP PLS*

speed

0.89 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems