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: ENST00000375735
Querying Taster for transcript #2: ENST00000334267
Querying Taster for transcript #3: ENST00000398093
MT speed 0 s - this script 3.67085 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
DYNC2H1	disease_causing_automatic	0.999998675287453	simple_aae		affected	0	Q1537R	single base exchange	rs137853033		show file
DYNC2H1	disease_causing_automatic	0.999998675287453	simple_aae		affected	0	Q1537R	single base exchange	rs137853033		show file
DYNC2H1	disease_causing_automatic	1	without_aae		affected	0		single base exchange	rs137853033		show file

Taster files

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999998675287453 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM092871)
known disease mutation: rs6511 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:103033875A>GN/A show variant in all transcripts IGV

HGNC symbol

DYNC2H1

Ensembl transcript ID

ENST00000375735

Genbank transcript ID

NM_001377

UniProt peptide

Q8NCM8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.4610A>G
cDNA.4754A>G
g.53716A>G

AA changes

Q1537R Score: 43 explain score(s)

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

1537

frameshift

known variant

Reference ID: rs137853033
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs6511 (pathogenic for Short-rib thoracic dysplasia 3 with or without polydactyly) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM092871)

known disease mutation at this position, please check HGMD for details (HGMD ID CM092871)
known disease mutation at this position, please check HGMD for details (HGMD ID CM092871)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.123	1
	4.248	1
(flanking)	2.594	1

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	53716	sequence motif lost	-	wt: ACAG\|gtaa mu: ACGG.gtaa
Acc marginally increased	53713	wt: 0.8001 / mu: 0.8135 (marginal change - not scored)	wt: TGACCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTACGT mu: TGACCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTACGT	cttc\|ACAG
Acc marginally increased	53711	wt: 0.6552 / mu: 0.6863 (marginal change - not scored)	wt: GTTGACCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTAC mu: GTTGACCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTAC	ccct\|TCAC
Acc increased	53708	wt: 0.23 / mu: 0.40	wt: GCAGTTGACCCATCTCTGTTCCCTTCACAGGTAAGGGGGCT mu: GCAGTTGACCCATCTCTGTTCCCTTCACGGGTAAGGGGGCT	gttc\|CCTT
Acc marginally increased	53721	wt: 0.4351 / mu: 0.4658 (marginal change - not scored)	wt: CTCTGTTCCCTTCACAGGTAAGGGGGCTTACGTGTAGAAGC mu: CTCTGTTCCCTTCACGGGTAAGGGGGCTTACGTGTAGAAGC	gtaa\|GGGG
Acc marginally increased	53710	wt: 0.8610 / mu: 0.8764 (marginal change - not scored)	wt: AGTTGACCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTA mu: AGTTGACCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTA	tccc\|TTCA
Acc marginally decreased	53716	wt: 0.9344 / mu: 0.9130 (marginal change - not scored)	wt: CCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTACGTGTA mu: CCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTACGTGTA	caca\|GGTA
Acc marginally increased	53715	wt: 0.9948 / mu: 0.9970 (marginal change - not scored)	wt: ACCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTACGTGT mu: ACCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTACGTGT	tcac\|AGGT
Acc increased	53709	wt: 0.22 / mu: 0.39	wt: CAGTTGACCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTT mu: CAGTTGACCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTT	ttcc\|CTTC
Acc marginally increased	53712	wt: 0.6367 / mu: 0.6635 (marginal change - not scored)	wt: TTGACCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTACG mu: TTGACCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTACG	cctt\|CACA
Acc marginally increased	53717	wt: 0.9929 / mu: 0.9943 (marginal change - not scored)	wt: CCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTACGTGTAG mu: CCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTACGTGTAG	acag\|GTAA
Donor marginally decreased	53716	wt: 0.9939 / mu: 0.9883 (marginal change - not scored)	wt: TTCACAGGTAAGGGG mu: TTCACGGGTAAGGGG	CACA\|ggta
Donor gained	53710	0.36	mu: GTTCCCTTCACGGGT	TCCC\|ttca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1537

mutated

all conserved

1537

Ptroglodytes

all identical

ENSPTRG00000004224

1535

Mmulatta

no alignment

ENSMMUG00000018308

n/a

Fcatus

no alignment

ENSFCAG00000000121

n/a

Mmusculus

all identical

ENSMUSG00000047193

1537

Ggallus

all identical

ENSGALG00000017180

1535

Trubripes

all identical

ENSTRUG00000004354

1538

Drerio

no alignment

ENSDARG00000090725

n/a

Dmelanogaster

all identical

FBgn0023096

1502

Celegans

all identical

F18C12.1

1498

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1	1650	REGION	Stem (By similarity).	lost
1651	1875	REGION	AAA 1 (By similarity).	might get lost (downstream of altered splice site)
1689	1696	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
1784	1784	CONFLICT	N -> H (in Ref. 6; CAB06054).	might get lost (downstream of altered splice site)
1864	1864	CONFLICT	W -> Y (in Ref. 6; CAB06054).	might get lost (downstream of altered splice site)
1866	1867	CONFLICT	LR -> FS (in Ref. 6; CAB06054).	might get lost (downstream of altered splice site)
1930	1930	CONFLICT	E -> K (in Ref. 1; BAE46899).	might get lost (downstream of altered splice site)
1938	2161	REGION	AAA 2 (By similarity).	might get lost (downstream of altered splice site)
1979	1986	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
2251	2505	REGION	AAA 3 (By similarity).	might get lost (downstream of altered splice site)
2291	2298	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
2617	2863	REGION	AAA 4 (By similarity).	might get lost (downstream of altered splice site)
2655	2662	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
2881	3169	REGION	Stalk (By similarity).	might get lost (downstream of altered splice site)
2897	2982	COILED	Potential.	might get lost (downstream of altered splice site)
3095	3095	CONFLICT	A -> V (in Ref. 7; CAD98012).	might get lost (downstream of altered splice site)
3109	3200	COILED	Potential.	might get lost (downstream of altered splice site)
3244	3473	REGION	AAA 5 (By similarity).	might get lost (downstream of altered splice site)
3408	3442	COILED	Potential.	might get lost (downstream of altered splice site)
3665	3665	CONFLICT	L -> P (in Ref. 7; CAD98012).	might get lost (downstream of altered splice site)
3690	3905	REGION	AAA 6 (By similarity).	might get lost (downstream of altered splice site)
4258	4258	CONFLICT	C -> R (in Ref. 3; BAB13905).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

12924 / 12924

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

4308 / 4308

position of stopcodon in wt / mu cDNA

13068 / 13068

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

145 / 145

chromosome

strand

last intron/exon boundary

12910

theoretical NMD boundary in CDS

12715

length of CDS

12924

coding sequence (CDS) position

4610

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

4754

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

53716

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

103033875

original gDNA sequence snippet

CCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTACGTGTA

altered gDNA sequence snippet

CCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTACGTGTA

original cDNA sequence snippet

CCCATCTCTGTTCCCTTCACAGATTTTATGCTTGGCGGAGC

altered cDNA sequence snippet

CCCATCTCTGTTCCCTTCACGGATTTTATGCTTGGCGGAGC

wildtype AA sequence

MANGTADVRK LFIFTTTQNY FGLMSELWDQ PLLCNCLEIN NFLDDGNQML LRVQRSDAGI
SFSNTIEFGD TKDKVLVFFK LRPEVITDEN LHDNILVSSM LESPISSLYQ AVRQVFAPML
LKDQEWSRNF DPKLQNLLSE LEAGLGIVLR RSDTNLTKLK FKEDDTRGIL TPSDEFQFWI
EQAHRGNKQI SKERANYFKE LFETIAREFY NLDSLSLLEV VDLVETTQDV VDDVWRQTEH
DHYPESRMLH LLDIIGGSFG RFVQKKLGTL NLWEDPYYLV KESLKAGISI CEQWVIVCNH
LTGQVWQRYV PHPWKNEKYF PETLDKLGKR LEEVLAIRTI HEKFLYFLPA SEEKIICLTR
VFEPFTGLNP VQYNPYTEPL WKAAVSQYEK IIAPAEQKIA GKLKNYISEI QDSPQQLLQA
FLKYKELVKR PTISKELMLE RETLLARLVD SIKDFRLDFE NRCRGIPGDA SGPLSGKNLS
EVVNSIVWVR QLELKVDDTI KIAEALLSDL PGFRCFHQSA KDLLDQLKLY EQEQFDDWSR
DIQSGLSDSR SGLCIEASSR IMELDSNDGL LKVHYSDRLV ILLREVRQLS ALGFVIPAKI
QQVANIAQKF CKQAIILKQV AHFYNSIDQQ MIQSQRPMML QSALAFEQII KNSKAGSGGK
SQITWDNPKE LEGYIQKLQN AAERLATENR KLRKWHTTFC EKVVVLMNID LLRQQQRWKD
GLQELRTGLA TVEAQGFQAS DMHAWKQHWN HQLYKALEHQ YQMGLEALNE NLPEINIDLT
YKQGRLQFRP PFEEIRAKYY REMKRFIGIP NQFKGVGEAG DESIFSIMID RNASGFLTIF
SKAEDLFRRL SAVLHQHKEW IVIGQVDMEA LVEKHLFTVH DWEKNFKALK IKGKEVERLP
SAVKVDCLNI NCNPVKTVID DLIQKLFDLL VLSLKKSIQA HLHEIDTFVT EAMEVLTIMP
QSVEEIGDAN LQYSKLQERK PEILPLFQEA EDKNRLLRTV AGGGLETISN LKAKWDKFEL
MMESHQLMIK DQIEVMKGNV KSRLQIYYQE LEKFKARWDQ LKPGDDVIET GQHNTLDKSA
KLIKEKKIEF DDLEVTRKKL VDDCHHFRLE EPNFSLASSI SKDIESCAQI WAFYEEFQQG
FQEMANEDWI TFRTKTYLFE EFLMNWHDRL RKVEEHSVMT VKLQSEVDKY KIVIPILKYV
RGEHLSPDHW LDLFRLLGLP RGTSLEKLLF GDLLRVADTI VAKAADLKDL NSRAQGEVTI
REALRELDLW GVGAVFTLID YEDSQSRTMK LIKDWKDIVN QVGDNRCLLQ SLKDSPYYKG
FEDKVSIWER KLAELDEYLQ NLNHIQRKWV YLEPIFGRGA LPKEQTRFNR VDEDFRSIMT
DIKKDNRVTT LTTHAGIRNS LLTILDQLQR CQKSLNEFLE EKRSAFPRFY FIGDDDLLEI
LGQSTNPSVI QSHLKKLFAG INSVCFDEKS KHITAMKSLE GEVVPFKNKV PLSNNVETWL
NDLALEMKKT LEQLLKECVT TGRSSQGAVD PSLFPSQILC LAEQIKFTED VENAIKDHSL
HQIETQLVNK LEQYTNIDTS SEDPGNTESG ILELKLKALI LDIIHNIDVV KQLNQIQVHT
TEDWAWKKQL RFYMKSDHTC CVQMVDSEFQ YTYEYQGNAS KLVYTPLTDK CYLTLTQAMK
MGLGGNPYGP AGTGKTESVK ALGGLLGRQV LVFNCDEGID VKSMGRIFVG LVKCGAWGCF
DEFNRLEESV LSAVSMQIQT IQDALKNHRT VCELLGKEVE VNSNSGIFIT MNPAGKGYGG
RQKLPDNLKQ LFRPVAMSHP DNELIAEVIL YSEGFKDAKV LSRKLVAIFN LSRELLTPQQ
HYDWGLRALK TVLRGSGNLL RQLNKSGTTQ NANESHIVVQ ALRLNTMSKF TFTDCTRFDA
LIKDVFPGIE LKEVEYDELS AALKQVFEEA NYEIIPNQIK KALELYEQLC QRMGVVIVGP
SGAGKSTLWR MLRAALCKTG KVVKQYTMNP KAMPRYQLLG HIDMDTREWS DGVLTNSARQ
VVREPQDVSS WIICDGDIDP EWIESLNSVL DDNRLLTMPS GERIQFGPNV NFVFETHDLS
CASPATISRM GMIFLSDEET DLNSLIKSWL RNQPAEYRNN LENWIGDYFE KALQWVLKQN
DYVVETSLVG TVMNGLSHLH GCRDHDEFII NLIRGLGGNL NMKSRLEFTK EVFHWARESP
PDFHKPMDTY YDSTRGRLAT YVLKKPEDLT ADDFSNGLTL PVIQTPDMQR GLDYFKPWLS
SDTKQPFILV GPEGCGKGML LRYAFSQLRS TQIATVHCSA QTTSRHLLQK LSQTCMVIST
NTGRVYRPKD CERLVLYLKD INLPKLDKWG TSTLVAFLQQ VLTYQGFYDE NLEWVGLENI
QIVASMSAGG RLGRHKLTTR FTSIVRLCSI DYPEREQLQT IYGAYLEPVL HKNLKNHSIW
GSSSKIYLLA GSMVQVYEQV RAKFTVDDYS HYFFTPCILT QWVLGLFRYD LEGGSSNHPL
DYVLEIVAYE ARRLFRDKIV GAKELHLFDI ILTSVFQGDW GSDILDNMSD SFYVTWGARH
NSGARAAPGQ PLPPHGKPLG KLNSTDLKDV IKKGLIHYGR DNQNLDILLF HEVLEYMSRI
DRVLSFPGGS LLLAGRSGVG RRTITSLVSH MHGAVLFSPK ISRGYELKQF KNDLKHVLQL
AGIEAQQVVL LLEDYQFVHP TFLEMINSLL SSGEVPGLYT LEELEPLLLP LKDQASQDGF
FGPVFNYFTY RIQQNLHIVL IMDSANSNFM INCESNPALH KKCQVLWMEG WSNSSMKKIP
EMLFSETGGG EKYNDKKRKE EKKKNSVDPD FLKSFLLIHE SCKAYGATPS RYMTFLHVYS
AISSSKKKEL LKRQSHLQAG VSKLNEAKAL VDELNRKAGE QSVLLKTKQD EADAALQMIT
VSMQDASEQK TELERLKHRI AEEVVKIEER KNKIDDELKE VQPLVNEAKL AVGNIKPESL
SEIRSLRMPP DVIRDILEGV LRLMGIFDTS WVSMKSFLAK RGVREDIATF DARNISKEIR
ESVEELLFKN KGSFDPKNAK RASTAAAPLA AWVKANIQYS HVLERIHPLE TEQAGLESNL
KKTEDRKRKL EELLNSVGQK VSELKEKFQS RTSEAAKLEA EVSKAQETIK AAEVLINQLD
REHKRWNAQV VEITEELATL PKRAQLAAAF ITYLSAAPES LRKTCLEEWT KSAGLEKFDL
RRFLCTESEQ LIWKSEGLPS DDLSIENALV ILQSRVCPFL IDPSSQATEW LKTHLKDSRL
EVINQQDSNF ITALELAVRF GKTLIIQEMD GVEPVLYPLL RRDLVAQGPR YVVQIGDKII
DYNEEFRLFL STRNPNPFIP PDAASIVTEV NFTTTRSGLR GQLLALTIQH EKPDLEEQKT
KLLQQEEDKK IQLAKLEESL LETLATSQGN ILENKDLIES LNQTKASSAL IQESLKESYK
LQISLDQERD AYLPLAESAS KMYFIISDLS KINNMYRFSL AAFLRLFQRA LQNKQDSENT
EQRIQSLISS LQHMVYEYIC RCLFKADQLM FALHFVRGMH PELFQENEWD TFTGVVVGDM
LRKADSQQKI RDQLPSWIDQ ERSWAVATLK IALPSLYQTL CFEDAALWRT YYNNSMCEQE
FPSILAKKVS LFQQILVVQA LRPDRLQSAM ALFACKTLGL KEVSPLPLNL KRLYKETLEI
EPILIIISPG ADPSQELQEL ANAERSGECY HQVAMGQGQA DLAIQMLKEC ARNGDWLCLK
NLHLVVSWLP VLEKELNTLQ PKDTFRLWLT AEVHPNFTPI LLQSSLKITY ESPPGLKKNL
MRTYESWTPE QISKKDNTHR AHALFSLAWF HAACQERRNY IPQGWTKFYE FSLSDLRAGY
NIIDRLFDGA KDVQWEFVHG LLENAIYGGR IDNYFDLRVL QSYLKQFFNS SVIDVFNQRN
KKSIFPYSVS LPQSCSILDY RAVIEKIPED DKPSFFGLPA NIARSSQRMI SSQVISQLRI
LGRSITAGSK FDREIWSNEL SPVLNLWKKL NQNSNLIHQK VPPPNDRQGS PILSFIILEQ
FNAIRLVQSV HQSLAALSKV IRGTTLLSSE VQKLASALLN QKCPLAWQSK WEGPEDPLQY
LRGLVARALA IQNWVDKAEK QALLSETLDL SELFHPDTFL NALRQETARA VGRSVDSLKF
VASWKGRLQE AKLQIKISGL LLEGCSFDGN QLSENQLDSP SVSSVLPCFM GWIPQDACGP
YSPDECISLP VYTSAERDRV VTNIDVPCGG NQDQWIQCGA ALFLKNQ*

mutated AA sequence

MANGTADVRK LFIFTTTQNY FGLMSELWDQ PLLCNCLEIN NFLDDGNQML LRVQRSDAGI
SFSNTIEFGD TKDKVLVFFK LRPEVITDEN LHDNILVSSM LESPISSLYQ AVRQVFAPML
LKDQEWSRNF DPKLQNLLSE LEAGLGIVLR RSDTNLTKLK FKEDDTRGIL TPSDEFQFWI
EQAHRGNKQI SKERANYFKE LFETIAREFY NLDSLSLLEV VDLVETTQDV VDDVWRQTEH
DHYPESRMLH LLDIIGGSFG RFVQKKLGTL NLWEDPYYLV KESLKAGISI CEQWVIVCNH
LTGQVWQRYV PHPWKNEKYF PETLDKLGKR LEEVLAIRTI HEKFLYFLPA SEEKIICLTR
VFEPFTGLNP VQYNPYTEPL WKAAVSQYEK IIAPAEQKIA GKLKNYISEI QDSPQQLLQA
FLKYKELVKR PTISKELMLE RETLLARLVD SIKDFRLDFE NRCRGIPGDA SGPLSGKNLS
EVVNSIVWVR QLELKVDDTI KIAEALLSDL PGFRCFHQSA KDLLDQLKLY EQEQFDDWSR
DIQSGLSDSR SGLCIEASSR IMELDSNDGL LKVHYSDRLV ILLREVRQLS ALGFVIPAKI
QQVANIAQKF CKQAIILKQV AHFYNSIDQQ MIQSQRPMML QSALAFEQII KNSKAGSGGK
SQITWDNPKE LEGYIQKLQN AAERLATENR KLRKWHTTFC EKVVVLMNID LLRQQQRWKD
GLQELRTGLA TVEAQGFQAS DMHAWKQHWN HQLYKALEHQ YQMGLEALNE NLPEINIDLT
YKQGRLQFRP PFEEIRAKYY REMKRFIGIP NQFKGVGEAG DESIFSIMID RNASGFLTIF
SKAEDLFRRL SAVLHQHKEW IVIGQVDMEA LVEKHLFTVH DWEKNFKALK IKGKEVERLP
SAVKVDCLNI NCNPVKTVID DLIQKLFDLL VLSLKKSIQA HLHEIDTFVT EAMEVLTIMP
QSVEEIGDAN LQYSKLQERK PEILPLFQEA EDKNRLLRTV AGGGLETISN LKAKWDKFEL
MMESHQLMIK DQIEVMKGNV KSRLQIYYQE LEKFKARWDQ LKPGDDVIET GQHNTLDKSA
KLIKEKKIEF DDLEVTRKKL VDDCHHFRLE EPNFSLASSI SKDIESCAQI WAFYEEFQQG
FQEMANEDWI TFRTKTYLFE EFLMNWHDRL RKVEEHSVMT VKLQSEVDKY KIVIPILKYV
RGEHLSPDHW LDLFRLLGLP RGTSLEKLLF GDLLRVADTI VAKAADLKDL NSRAQGEVTI
REALRELDLW GVGAVFTLID YEDSQSRTMK LIKDWKDIVN QVGDNRCLLQ SLKDSPYYKG
FEDKVSIWER KLAELDEYLQ NLNHIQRKWV YLEPIFGRGA LPKEQTRFNR VDEDFRSIMT
DIKKDNRVTT LTTHAGIRNS LLTILDQLQR CQKSLNEFLE EKRSAFPRFY FIGDDDLLEI
LGQSTNPSVI QSHLKKLFAG INSVCFDEKS KHITAMKSLE GEVVPFKNKV PLSNNVETWL
NDLALEMKKT LEQLLKECVT TGRSSQGAVD PSLFPSRILC LAEQIKFTED VENAIKDHSL
HQIETQLVNK LEQYTNIDTS SEDPGNTESG ILELKLKALI LDIIHNIDVV KQLNQIQVHT
TEDWAWKKQL RFYMKSDHTC CVQMVDSEFQ YTYEYQGNAS KLVYTPLTDK CYLTLTQAMK
MGLGGNPYGP AGTGKTESVK ALGGLLGRQV LVFNCDEGID VKSMGRIFVG LVKCGAWGCF
DEFNRLEESV LSAVSMQIQT IQDALKNHRT VCELLGKEVE VNSNSGIFIT MNPAGKGYGG
RQKLPDNLKQ LFRPVAMSHP DNELIAEVIL YSEGFKDAKV LSRKLVAIFN LSRELLTPQQ
HYDWGLRALK TVLRGSGNLL RQLNKSGTTQ NANESHIVVQ ALRLNTMSKF TFTDCTRFDA
LIKDVFPGIE LKEVEYDELS AALKQVFEEA NYEIIPNQIK KALELYEQLC QRMGVVIVGP
SGAGKSTLWR MLRAALCKTG KVVKQYTMNP KAMPRYQLLG HIDMDTREWS DGVLTNSARQ
VVREPQDVSS WIICDGDIDP EWIESLNSVL DDNRLLTMPS GERIQFGPNV NFVFETHDLS
CASPATISRM GMIFLSDEET DLNSLIKSWL RNQPAEYRNN LENWIGDYFE KALQWVLKQN
DYVVETSLVG TVMNGLSHLH GCRDHDEFII NLIRGLGGNL NMKSRLEFTK EVFHWARESP
PDFHKPMDTY YDSTRGRLAT YVLKKPEDLT ADDFSNGLTL PVIQTPDMQR GLDYFKPWLS
SDTKQPFILV GPEGCGKGML LRYAFSQLRS TQIATVHCSA QTTSRHLLQK LSQTCMVIST
NTGRVYRPKD CERLVLYLKD INLPKLDKWG TSTLVAFLQQ VLTYQGFYDE NLEWVGLENI
QIVASMSAGG RLGRHKLTTR FTSIVRLCSI DYPEREQLQT IYGAYLEPVL HKNLKNHSIW
GSSSKIYLLA GSMVQVYEQV RAKFTVDDYS HYFFTPCILT QWVLGLFRYD LEGGSSNHPL
DYVLEIVAYE ARRLFRDKIV GAKELHLFDI ILTSVFQGDW GSDILDNMSD SFYVTWGARH
NSGARAAPGQ PLPPHGKPLG KLNSTDLKDV IKKGLIHYGR DNQNLDILLF HEVLEYMSRI
DRVLSFPGGS LLLAGRSGVG RRTITSLVSH MHGAVLFSPK ISRGYELKQF KNDLKHVLQL
AGIEAQQVVL LLEDYQFVHP TFLEMINSLL SSGEVPGLYT LEELEPLLLP LKDQASQDGF
FGPVFNYFTY RIQQNLHIVL IMDSANSNFM INCESNPALH KKCQVLWMEG WSNSSMKKIP
EMLFSETGGG EKYNDKKRKE EKKKNSVDPD FLKSFLLIHE SCKAYGATPS RYMTFLHVYS
AISSSKKKEL LKRQSHLQAG VSKLNEAKAL VDELNRKAGE QSVLLKTKQD EADAALQMIT
VSMQDASEQK TELERLKHRI AEEVVKIEER KNKIDDELKE VQPLVNEAKL AVGNIKPESL
SEIRSLRMPP DVIRDILEGV LRLMGIFDTS WVSMKSFLAK RGVREDIATF DARNISKEIR
ESVEELLFKN KGSFDPKNAK RASTAAAPLA AWVKANIQYS HVLERIHPLE TEQAGLESNL
KKTEDRKRKL EELLNSVGQK VSELKEKFQS RTSEAAKLEA EVSKAQETIK AAEVLINQLD
REHKRWNAQV VEITEELATL PKRAQLAAAF ITYLSAAPES LRKTCLEEWT KSAGLEKFDL
RRFLCTESEQ LIWKSEGLPS DDLSIENALV ILQSRVCPFL IDPSSQATEW LKTHLKDSRL
EVINQQDSNF ITALELAVRF GKTLIIQEMD GVEPVLYPLL RRDLVAQGPR YVVQIGDKII
DYNEEFRLFL STRNPNPFIP PDAASIVTEV NFTTTRSGLR GQLLALTIQH EKPDLEEQKT
KLLQQEEDKK IQLAKLEESL LETLATSQGN ILENKDLIES LNQTKASSAL IQESLKESYK
LQISLDQERD AYLPLAESAS KMYFIISDLS KINNMYRFSL AAFLRLFQRA LQNKQDSENT
EQRIQSLISS LQHMVYEYIC RCLFKADQLM FALHFVRGMH PELFQENEWD TFTGVVVGDM
LRKADSQQKI RDQLPSWIDQ ERSWAVATLK IALPSLYQTL CFEDAALWRT YYNNSMCEQE
FPSILAKKVS LFQQILVVQA LRPDRLQSAM ALFACKTLGL KEVSPLPLNL KRLYKETLEI
EPILIIISPG ADPSQELQEL ANAERSGECY HQVAMGQGQA DLAIQMLKEC ARNGDWLCLK
NLHLVVSWLP VLEKELNTLQ PKDTFRLWLT AEVHPNFTPI LLQSSLKITY ESPPGLKKNL
MRTYESWTPE QISKKDNTHR AHALFSLAWF HAACQERRNY IPQGWTKFYE FSLSDLRAGY
NIIDRLFDGA KDVQWEFVHG LLENAIYGGR IDNYFDLRVL QSYLKQFFNS SVIDVFNQRN
KKSIFPYSVS LPQSCSILDY RAVIEKIPED DKPSFFGLPA NIARSSQRMI SSQVISQLRI
LGRSITAGSK FDREIWSNEL SPVLNLWKKL NQNSNLIHQK VPPPNDRQGS PILSFIILEQ
FNAIRLVQSV HQSLAALSKV IRGTTLLSSE VQKLASALLN QKCPLAWQSK WEGPEDPLQY
LRGLVARALA IQNWVDKAEK QALLSETLDL SELFHPDTFL NALRQETARA VGRSVDSLKF
VASWKGRLQE AKLQIKISGL LLEGCSFDGN QLSENQLDSP SVSSVLPCFM GWIPQDACGP
YSPDECISLP VYTSAERDRV VTNIDVPCGG NQDQWIQCGA ALFLKNQ*

speed

0.77 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

disease causing

Model: simple_aae, prob: 0.999998675287453 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
known disease mutation at this position (HGMD CM092871)
known disease mutation: rs6511 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:103033875A>GN/A show variant in all transcripts IGV

HGNC symbol

DYNC2H1

Ensembl transcript ID

ENST00000398093

Genbank transcript ID

NM_001080463

UniProt peptide

Q8NCM8

alteration type

single base exchange

alteration region

CDS

DNA changes

c.4610A>G
cDNA.4610A>G
g.53716A>G

AA changes

Q1537R Score: 43 explain score(s)

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

1537

frameshift

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.123	1
	4.248	1
(flanking)	2.594	1

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

splice sites

alteration within used splice site, likely to disturb normal splicing

effect	gDNA position	score	detection sequence	exon-intron border
Donor lost	53716	sequence motif lost	-	wt: ACAG\|gtaa mu: ACGG.gtaa
Acc marginally increased	53713	wt: 0.8001 / mu: 0.8135 (marginal change - not scored)	wt: TGACCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTACGT mu: TGACCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTACGT	cttc\|ACAG
Acc marginally increased	53711	wt: 0.6552 / mu: 0.6863 (marginal change - not scored)	wt: GTTGACCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTAC mu: GTTGACCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTAC	ccct\|TCAC
Acc increased	53708	wt: 0.23 / mu: 0.40	wt: GCAGTTGACCCATCTCTGTTCCCTTCACAGGTAAGGGGGCT mu: GCAGTTGACCCATCTCTGTTCCCTTCACGGGTAAGGGGGCT	gttc\|CCTT
Acc marginally increased	53721	wt: 0.4351 / mu: 0.4658 (marginal change - not scored)	wt: CTCTGTTCCCTTCACAGGTAAGGGGGCTTACGTGTAGAAGC mu: CTCTGTTCCCTTCACGGGTAAGGGGGCTTACGTGTAGAAGC	gtaa\|GGGG
Acc marginally increased	53710	wt: 0.8610 / mu: 0.8764 (marginal change - not scored)	wt: AGTTGACCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTA mu: AGTTGACCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTA	tccc\|TTCA
Acc marginally decreased	53716	wt: 0.9344 / mu: 0.9130 (marginal change - not scored)	wt: CCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTACGTGTA mu: CCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTACGTGTA	caca\|GGTA
Acc marginally increased	53715	wt: 0.9948 / mu: 0.9970 (marginal change - not scored)	wt: ACCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTACGTGT mu: ACCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTACGTGT	tcac\|AGGT
Acc increased	53709	wt: 0.22 / mu: 0.39	wt: CAGTTGACCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTT mu: CAGTTGACCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTT	ttcc\|CTTC
Acc marginally increased	53712	wt: 0.6367 / mu: 0.6635 (marginal change - not scored)	wt: TTGACCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTACG mu: TTGACCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTACG	cctt\|CACA
Acc marginally increased	53717	wt: 0.9929 / mu: 0.9943 (marginal change - not scored)	wt: CCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTACGTGTAG mu: CCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTACGTGTAG	acag\|GTAA
Donor marginally decreased	53716	wt: 0.9939 / mu: 0.9883 (marginal change - not scored)	wt: TTCACAGGTAAGGGG mu: TTCACGGGTAAGGGG	CACA\|ggta
Donor gained	53710	0.36	mu: GTTCCCTTCACGGGT	TCCC\|ttca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

1537

mutated

all conserved

1537

Ptroglodytes

all identical

ENSPTRG00000004224

1535

Mmulatta

no alignment

ENSMMUG00000018308

n/a

Fcatus

no alignment

ENSFCAG00000000121

n/a

Mmusculus

all identical

ENSMUSG00000047193

1537

Ggallus

all identical

ENSGALG00000017180

1535

Trubripes

all identical

ENSTRUG00000004354

1538

Drerio

no alignment

ENSDARG00000090725

n/a

Dmelanogaster

all identical

FBgn0023096

1502

Celegans

all identical

F18C12.1

1498

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
1	1650	REGION	Stem (By similarity).	lost
1651	1875	REGION	AAA 1 (By similarity).	might get lost (downstream of altered splice site)
1689	1696	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
1784	1784	CONFLICT	N -> H (in Ref. 6; CAB06054).	might get lost (downstream of altered splice site)
1864	1864	CONFLICT	W -> Y (in Ref. 6; CAB06054).	might get lost (downstream of altered splice site)
1866	1867	CONFLICT	LR -> FS (in Ref. 6; CAB06054).	might get lost (downstream of altered splice site)
1930	1930	CONFLICT	E -> K (in Ref. 1; BAE46899).	might get lost (downstream of altered splice site)
1938	2161	REGION	AAA 2 (By similarity).	might get lost (downstream of altered splice site)
1979	1986	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
2251	2505	REGION	AAA 3 (By similarity).	might get lost (downstream of altered splice site)
2291	2298	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
2617	2863	REGION	AAA 4 (By similarity).	might get lost (downstream of altered splice site)
2655	2662	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
2881	3169	REGION	Stalk (By similarity).	might get lost (downstream of altered splice site)
2897	2982	COILED	Potential.	might get lost (downstream of altered splice site)
3095	3095	CONFLICT	A -> V (in Ref. 7; CAD98012).	might get lost (downstream of altered splice site)
3109	3200	COILED	Potential.	might get lost (downstream of altered splice site)
3244	3473	REGION	AAA 5 (By similarity).	might get lost (downstream of altered splice site)
3408	3442	COILED	Potential.	might get lost (downstream of altered splice site)
3665	3665	CONFLICT	L -> P (in Ref. 7; CAD98012).	might get lost (downstream of altered splice site)
3690	3905	REGION	AAA 6 (By similarity).	might get lost (downstream of altered splice site)
4258	4258	CONFLICT	C -> R (in Ref. 3; BAB13905).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

12945 / 12945

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

4315 / 4315

position of stopcodon in wt / mu cDNA

12945 / 12945

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

12787

theoretical NMD boundary in CDS

12736

length of CDS

12945

coding sequence (CDS) position

4610

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

4610

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

53716

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

103033875

original gDNA sequence snippet

CCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTACGTGTA

altered gDNA sequence snippet

CCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTACGTGTA

original cDNA sequence snippet

CCCATCTCTGTTCCCTTCACAGATTTTATGCTTGGCGGAGC

altered cDNA sequence snippet

CCCATCTCTGTTCCCTTCACGGATTTTATGCTTGGCGGAGC

wildtype AA sequence

MANGTADVRK LFIFTTTQNY FGLMSELWDQ PLLCNCLEIN NFLDDGNQML LRVQRSDAGI
SFSNTIEFGD TKDKVLVFFK LRPEVITDEN LHDNILVSSM LESPISSLYQ AVRQVFAPML
LKDQEWSRNF DPKLQNLLSE LEAGLGIVLR RSDTNLTKLK FKEDDTRGIL TPSDEFQFWI
EQAHRGNKQI SKERANYFKE LFETIAREFY NLDSLSLLEV VDLVETTQDV VDDVWRQTEH
DHYPESRMLH LLDIIGGSFG RFVQKKLGTL NLWEDPYYLV KESLKAGISI CEQWVIVCNH
LTGQVWQRYV PHPWKNEKYF PETLDKLGKR LEEVLAIRTI HEKFLYFLPA SEEKIICLTR
VFEPFTGLNP VQYNPYTEPL WKAAVSQYEK IIAPAEQKIA GKLKNYISEI QDSPQQLLQA
FLKYKELVKR PTISKELMLE RETLLARLVD SIKDFRLDFE NRCRGIPGDA SGPLSGKNLS
EVVNSIVWVR QLELKVDDTI KIAEALLSDL PGFRCFHQSA KDLLDQLKLY EQEQFDDWSR
DIQSGLSDSR SGLCIEASSR IMELDSNDGL LKVHYSDRLV ILLREVRQLS ALGFVIPAKI
QQVANIAQKF CKQAIILKQV AHFYNSIDQQ MIQSQRPMML QSALAFEQII KNSKAGSGGK
SQITWDNPKE LEGYIQKLQN AAERLATENR KLRKWHTTFC EKVVVLMNID LLRQQQRWKD
GLQELRTGLA TVEAQGFQAS DMHAWKQHWN HQLYKALEHQ YQMGLEALNE NLPEINIDLT
YKQGRLQFRP PFEEIRAKYY REMKRFIGIP NQFKGVGEAG DESIFSIMID RNASGFLTIF
SKAEDLFRRL SAVLHQHKEW IVIGQVDMEA LVEKHLFTVH DWEKNFKALK IKGKEVERLP
SAVKVDCLNI NCNPVKTVID DLIQKLFDLL VLSLKKSIQA HLHEIDTFVT EAMEVLTIMP
QSVEEIGDAN LQYSKLQERK PEILPLFQEA EDKNRLLRTV AGGGLETISN LKAKWDKFEL
MMESHQLMIK DQIEVMKGNV KSRLQIYYQE LEKFKARWDQ LKPGDDVIET GQHNTLDKSA
KLIKEKKIEF DDLEVTRKKL VDDCHHFRLE EPNFSLASSI SKDIESCAQI WAFYEEFQQG
FQEMANEDWI TFRTKTYLFE EFLMNWHDRL RKVEEHSVMT VKLQSEVDKY KIVIPILKYV
RGEHLSPDHW LDLFRLLGLP RGTSLEKLLF GDLLRVADTI VAKAADLKDL NSRAQGEVTI
REALRELDLW GVGAVFTLID YEDSQSRTMK LIKDWKDIVN QVGDNRCLLQ SLKDSPYYKG
FEDKVSIWER KLAELDEYLQ NLNHIQRKWV YLEPIFGRGA LPKEQTRFNR VDEDFRSIMT
DIKKDNRVTT LTTHAGIRNS LLTILDQLQR CQKSLNEFLE EKRSAFPRFY FIGDDDLLEI
LGQSTNPSVI QSHLKKLFAG INSVCFDEKS KHITAMKSLE GEVVPFKNKV PLSNNVETWL
NDLALEMKKT LEQLLKECVT TGRSSQGAVD PSLFPSQILC LAEQIKFTED VENAIKDHSL
HQIETQLVNK LEQYTNIDTS SEDPGNTESG ILELKLKALI LDIIHNIDVV KQLNQIQVHT
TEDWAWKKQL RFYMKSDHTC CVQMVDSEFQ YTYEYQGNAS KLVYTPLTDK CYLTLTQAMK
MGLGGNPYGP AGTGKTESVK ALGGLLGRQV LVFNCDEGID VKSMGRIFVG LVKCGAWGCF
DEFNRLEESV LSAVSMQIQT IQDALKNHRT VCELLGKEVE VNSNSGIFIT MNPAGKGYGG
RQKLPDNLKQ LFRPVAMSHP DNELIAEVIL YSEGFKDAKV LSRKLVAIFN LSRELLTPQQ
HYDWGLRALK TVLRGSGNLL RQLNKSGTTQ NANESHIVVQ ALRLNTMSKF TFTDCTRFDA
LIKDVFPGIE LKEVEYDELS AALKQVFEEA NYEIIPNQIK KALELYEQLC QRMGVVIVGP
SGAGKSTLWR MLRAALCKTG KVVKQYTMNP KAMPRYQLLG HIDMDTREWS DGVLTNSARQ
VVREPQDVSS WIICDGDIDP EWIESLNSVL DDNRLLTMPS GERIQFGPNV NFVFETHDLS
CASPATISRM GMIFLSDEET DLNSLIKSWL RNQPAEYRNN LENWIGDYFE KALQWVLKQN
DYVVETSLVG TVMNGLSHLH GCRDHDEFII NLIRGLGGNL NMKSRLEFTK EVFHWARESP
PDFHKPMDTY YDSTRGRLAT YVLKKPEDLT ADDFSNGLTL PVIQTPDMQR GLDYFKPWLS
SDTKQPFILV GPEGCGKGML LRYAFSQLRS TQIATVHCSA QTTSRHLLQK LSQTCMVIST
NTGRVYRPKD CERLVLYLKD INLPKLDKWG TSTLVAFLQQ VLTYQGFYDE NLEWVGLENI
QIVASMSAGG RLGRHKLTTR FTSIVRLCSI DYPEREQLQT IYGAYLEPVL HKNLKNHSIW
GSSSKIYLLA GSMVQVYEQV RAKFTVDDYS HYFFTPCILT QWVLGLFRYD LEGGSSNHPL
DYVLEIVAYE ARRLFRDKIV GAKELHLFDI ILTSVFQGDW GSDILDNMSD SFYVTWGARH
NSGARAAPGQ PLPPHGKPLG KLNSTDLKDV IKKGLIHYGR DNQNLDILLF HEVLEYMSRI
DRVLSFPGGS LLLAGRSGVG RRTITSLVSH MHGAVLFSPK ISRGYELKQF KNDLKHVLQL
AGIEAQQVVL LLEDYQFVHP TFLEMINSLL SSGEVPGLYT LEELEPLLLP LKDQASQDGF
FGPVFNYFTY RIQQNLHIVL IMDSANSNFM INCESNPALH KKCQVLWMEG WSNSSMKKIP
EMLFSETGGG EKYNDKKRKE EKKKNSVDPD FLKSFLLIHE SCKAYGATPS RYMTFLHVYS
AISSSKKKEL LKRQSHLQAG VSKLNEAKAL VDELNRKAGE QSVLLKTKQD EADAALQMIT
VSMQDASEQK TELERLKHRI AEEVVKIEER KNKIDDELKE VQPLVNEAKL AVGNIKPESL
SEIRSLRMPP DVIRDILEGV LRLMGIFDTS WVSMKSFLAK RGVREDIATF DARNISKEIR
ESVEELLFKN KGSFDPKNAK RASTAAAPLA AWVKANIQYS HVLERIHPLE TEQAGLESNL
KKTEDRKRKL EELLNSVGQK VSELKEKFQS RTSEAAKLEA EVSKAQETIK AAEVLINQLD
REHKRWNAQV VEITEELATL PKRAQLAAAF ITYLSAAPES LRKTCLEEWT KSAGLEKFDL
RRFLCTESEQ LIWKSEGLPS DDLSIENALV ILQIIGLKSW SRVCPFLIDP SSQATEWLKT
HLKDSRLEVI NQQDSNFITA LELAVRFGKT LIIQEMDGVE PVLYPLLRRD LVAQGPRYVV
QIGDKIIDYN EEFRLFLSTR NPNPFIPPDA ASIVTEVNFT TTRSGLRGQL LALTIQHEKP
DLEEQKTKLL QQEEDKKIQL AKLEESLLET LATSQGNILE NKDLIESLNQ TKASSALIQE
SLKESYKLQI SLDQERDAYL PLAESASKMY FIISDLSKIN NMYRFSLAAF LRLFQRALQN
KQDSENTEQR IQSLISSLQH MVYEYICRCL FKADQLMFAL HFVRGMHPEL FQENEWDTFT
GVVVGDMLRK ADSQQKIRDQ LPSWIDQERS WAVATLKIAL PSLYQTLCFE DAALWRTYYN
NSMCEQEFPS ILAKKVSLFQ QILVVQALRP DRLQSAMALF ACKTLGLKEV SPLPLNLKRL
YKETLEIEPI LIIISPGADP SQELQELANA ERSGECYHQV AMGQGQADLA IQMLKECARN
GDWLCLKNLH LVVSWLPVLE KELNTLQPKD TFRLWLTAEV HPNFTPILLQ SSLKITYESP
PGLKKNLMRT YESWTPEQIS KKDNTHRAHA LFSLAWFHAA CQERRNYIPQ GWTKFYEFSL
SDLRAGYNII DRLFDGAKDV QWEFVHGLLE NAIYGGRIDN YFDLRVLQSY LKQFFNSSVI
DVFNQRNKKS IFPYSVSLPQ SCSILDYRAV IEKIPEDDKP SFFGLPANIA RSSQRMISSQ
VISQLRILGR SITAGSKFDR EIWSNELSPV LNLWKKLNQN SNLIHQKVPP PNDRQGSPIL
SFIILEQFNA IRLVQSVHQS LAALSKVIRG TTLLSSEVQK LASALLNQKC PLAWQSKWEG
PEDPLQYLRG LVARALAIQN WVDKAEKQAL LSETLDLSEL FHPDTFLNAL RQETARAVGR
SVDSLKFVAS WKGRLQEAKL QIKISGLLLE GCSFDGNQLS ENQLDSPSVS SVLPCFMGWI
PQDACGPYSP DECISLPVYT SAERDRVVTN IDVPCGGNQD QWIQCGAALF LKNQ*

mutated AA sequence

MANGTADVRK LFIFTTTQNY FGLMSELWDQ PLLCNCLEIN NFLDDGNQML LRVQRSDAGI
SFSNTIEFGD TKDKVLVFFK LRPEVITDEN LHDNILVSSM LESPISSLYQ AVRQVFAPML
LKDQEWSRNF DPKLQNLLSE LEAGLGIVLR RSDTNLTKLK FKEDDTRGIL TPSDEFQFWI
EQAHRGNKQI SKERANYFKE LFETIAREFY NLDSLSLLEV VDLVETTQDV VDDVWRQTEH
DHYPESRMLH LLDIIGGSFG RFVQKKLGTL NLWEDPYYLV KESLKAGISI CEQWVIVCNH
LTGQVWQRYV PHPWKNEKYF PETLDKLGKR LEEVLAIRTI HEKFLYFLPA SEEKIICLTR
VFEPFTGLNP VQYNPYTEPL WKAAVSQYEK IIAPAEQKIA GKLKNYISEI QDSPQQLLQA
FLKYKELVKR PTISKELMLE RETLLARLVD SIKDFRLDFE NRCRGIPGDA SGPLSGKNLS
EVVNSIVWVR QLELKVDDTI KIAEALLSDL PGFRCFHQSA KDLLDQLKLY EQEQFDDWSR
DIQSGLSDSR SGLCIEASSR IMELDSNDGL LKVHYSDRLV ILLREVRQLS ALGFVIPAKI
QQVANIAQKF CKQAIILKQV AHFYNSIDQQ MIQSQRPMML QSALAFEQII KNSKAGSGGK
SQITWDNPKE LEGYIQKLQN AAERLATENR KLRKWHTTFC EKVVVLMNID LLRQQQRWKD
GLQELRTGLA TVEAQGFQAS DMHAWKQHWN HQLYKALEHQ YQMGLEALNE NLPEINIDLT
YKQGRLQFRP PFEEIRAKYY REMKRFIGIP NQFKGVGEAG DESIFSIMID RNASGFLTIF
SKAEDLFRRL SAVLHQHKEW IVIGQVDMEA LVEKHLFTVH DWEKNFKALK IKGKEVERLP
SAVKVDCLNI NCNPVKTVID DLIQKLFDLL VLSLKKSIQA HLHEIDTFVT EAMEVLTIMP
QSVEEIGDAN LQYSKLQERK PEILPLFQEA EDKNRLLRTV AGGGLETISN LKAKWDKFEL
MMESHQLMIK DQIEVMKGNV KSRLQIYYQE LEKFKARWDQ LKPGDDVIET GQHNTLDKSA
KLIKEKKIEF DDLEVTRKKL VDDCHHFRLE EPNFSLASSI SKDIESCAQI WAFYEEFQQG
FQEMANEDWI TFRTKTYLFE EFLMNWHDRL RKVEEHSVMT VKLQSEVDKY KIVIPILKYV
RGEHLSPDHW LDLFRLLGLP RGTSLEKLLF GDLLRVADTI VAKAADLKDL NSRAQGEVTI
REALRELDLW GVGAVFTLID YEDSQSRTMK LIKDWKDIVN QVGDNRCLLQ SLKDSPYYKG
FEDKVSIWER KLAELDEYLQ NLNHIQRKWV YLEPIFGRGA LPKEQTRFNR VDEDFRSIMT
DIKKDNRVTT LTTHAGIRNS LLTILDQLQR CQKSLNEFLE EKRSAFPRFY FIGDDDLLEI
LGQSTNPSVI QSHLKKLFAG INSVCFDEKS KHITAMKSLE GEVVPFKNKV PLSNNVETWL
NDLALEMKKT LEQLLKECVT TGRSSQGAVD PSLFPSRILC LAEQIKFTED VENAIKDHSL
HQIETQLVNK LEQYTNIDTS SEDPGNTESG ILELKLKALI LDIIHNIDVV KQLNQIQVHT
TEDWAWKKQL RFYMKSDHTC CVQMVDSEFQ YTYEYQGNAS KLVYTPLTDK CYLTLTQAMK
MGLGGNPYGP AGTGKTESVK ALGGLLGRQV LVFNCDEGID VKSMGRIFVG LVKCGAWGCF
DEFNRLEESV LSAVSMQIQT IQDALKNHRT VCELLGKEVE VNSNSGIFIT MNPAGKGYGG
RQKLPDNLKQ LFRPVAMSHP DNELIAEVIL YSEGFKDAKV LSRKLVAIFN LSRELLTPQQ
HYDWGLRALK TVLRGSGNLL RQLNKSGTTQ NANESHIVVQ ALRLNTMSKF TFTDCTRFDA
LIKDVFPGIE LKEVEYDELS AALKQVFEEA NYEIIPNQIK KALELYEQLC QRMGVVIVGP
SGAGKSTLWR MLRAALCKTG KVVKQYTMNP KAMPRYQLLG HIDMDTREWS DGVLTNSARQ
VVREPQDVSS WIICDGDIDP EWIESLNSVL DDNRLLTMPS GERIQFGPNV NFVFETHDLS
CASPATISRM GMIFLSDEET DLNSLIKSWL RNQPAEYRNN LENWIGDYFE KALQWVLKQN
DYVVETSLVG TVMNGLSHLH GCRDHDEFII NLIRGLGGNL NMKSRLEFTK EVFHWARESP
PDFHKPMDTY YDSTRGRLAT YVLKKPEDLT ADDFSNGLTL PVIQTPDMQR GLDYFKPWLS
SDTKQPFILV GPEGCGKGML LRYAFSQLRS TQIATVHCSA QTTSRHLLQK LSQTCMVIST
NTGRVYRPKD CERLVLYLKD INLPKLDKWG TSTLVAFLQQ VLTYQGFYDE NLEWVGLENI
QIVASMSAGG RLGRHKLTTR FTSIVRLCSI DYPEREQLQT IYGAYLEPVL HKNLKNHSIW
GSSSKIYLLA GSMVQVYEQV RAKFTVDDYS HYFFTPCILT QWVLGLFRYD LEGGSSNHPL
DYVLEIVAYE ARRLFRDKIV GAKELHLFDI ILTSVFQGDW GSDILDNMSD SFYVTWGARH
NSGARAAPGQ PLPPHGKPLG KLNSTDLKDV IKKGLIHYGR DNQNLDILLF HEVLEYMSRI
DRVLSFPGGS LLLAGRSGVG RRTITSLVSH MHGAVLFSPK ISRGYELKQF KNDLKHVLQL
AGIEAQQVVL LLEDYQFVHP TFLEMINSLL SSGEVPGLYT LEELEPLLLP LKDQASQDGF
FGPVFNYFTY RIQQNLHIVL IMDSANSNFM INCESNPALH KKCQVLWMEG WSNSSMKKIP
EMLFSETGGG EKYNDKKRKE EKKKNSVDPD FLKSFLLIHE SCKAYGATPS RYMTFLHVYS
AISSSKKKEL LKRQSHLQAG VSKLNEAKAL VDELNRKAGE QSVLLKTKQD EADAALQMIT
VSMQDASEQK TELERLKHRI AEEVVKIEER KNKIDDELKE VQPLVNEAKL AVGNIKPESL
SEIRSLRMPP DVIRDILEGV LRLMGIFDTS WVSMKSFLAK RGVREDIATF DARNISKEIR
ESVEELLFKN KGSFDPKNAK RASTAAAPLA AWVKANIQYS HVLERIHPLE TEQAGLESNL
KKTEDRKRKL EELLNSVGQK VSELKEKFQS RTSEAAKLEA EVSKAQETIK AAEVLINQLD
REHKRWNAQV VEITEELATL PKRAQLAAAF ITYLSAAPES LRKTCLEEWT KSAGLEKFDL
RRFLCTESEQ LIWKSEGLPS DDLSIENALV ILQIIGLKSW SRVCPFLIDP SSQATEWLKT
HLKDSRLEVI NQQDSNFITA LELAVRFGKT LIIQEMDGVE PVLYPLLRRD LVAQGPRYVV
QIGDKIIDYN EEFRLFLSTR NPNPFIPPDA ASIVTEVNFT TTRSGLRGQL LALTIQHEKP
DLEEQKTKLL QQEEDKKIQL AKLEESLLET LATSQGNILE NKDLIESLNQ TKASSALIQE
SLKESYKLQI SLDQERDAYL PLAESASKMY FIISDLSKIN NMYRFSLAAF LRLFQRALQN
KQDSENTEQR IQSLISSLQH MVYEYICRCL FKADQLMFAL HFVRGMHPEL FQENEWDTFT
GVVVGDMLRK ADSQQKIRDQ LPSWIDQERS WAVATLKIAL PSLYQTLCFE DAALWRTYYN
NSMCEQEFPS ILAKKVSLFQ QILVVQALRP DRLQSAMALF ACKTLGLKEV SPLPLNLKRL
YKETLEIEPI LIIISPGADP SQELQELANA ERSGECYHQV AMGQGQADLA IQMLKECARN
GDWLCLKNLH LVVSWLPVLE KELNTLQPKD TFRLWLTAEV HPNFTPILLQ SSLKITYESP
PGLKKNLMRT YESWTPEQIS KKDNTHRAHA LFSLAWFHAA CQERRNYIPQ GWTKFYEFSL
SDLRAGYNII DRLFDGAKDV QWEFVHGLLE NAIYGGRIDN YFDLRVLQSY LKQFFNSSVI
DVFNQRNKKS IFPYSVSLPQ SCSILDYRAV IEKIPEDDKP SFFGLPANIA RSSQRMISSQ
VISQLRILGR SITAGSKFDR EIWSNELSPV LNLWKKLNQN SNLIHQKVPP PNDRQGSPIL
SFIILEQFNA IRLVQSVHQS LAALSKVIRG TTLLSSEVQK LASALLNQKC PLAWQSKWEG
PEDPLQYLRG LVARALAIQN WVDKAEKQAL LSETLDLSEL FHPDTFLNAL RQETARAVGR
SVDSLKFVAS WKGRLQEAKL QIKISGLLLE GCSFDGNQLS ENQLDSPSVS SVLPCFMGWI
PQDACGPYSP DECISLPVYT SAERDRVVTN IDVPCGGNQD QWIQCGAALF LKNQ*

speed

0.79 s

mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM092871)
known disease mutation: rs6511 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr11:103033875A>GN/A show variant in all transcripts IGV

HGNC symbol

DYNC2H1

Ensembl transcript ID

ENST00000334267

Genbank transcript ID

N/A

UniProt peptide

Q8NCM8

alteration type

single base exchange

alteration region

intron

DNA changes

g.53716A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.123	1
	4.248	1
(flanking)	2.594	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
Acc marginally increased	53713	wt: 0.8001 / mu: 0.8135 (marginal change - not scored)	wt: TGACCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTACGT mu: TGACCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTACGT	cttc\|ACAG
Acc marginally increased	53711	wt: 0.6552 / mu: 0.6863 (marginal change - not scored)	wt: GTTGACCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTAC mu: GTTGACCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTAC	ccct\|TCAC
Acc increased	53708	wt: 0.23 / mu: 0.40	wt: GCAGTTGACCCATCTCTGTTCCCTTCACAGGTAAGGGGGCT mu: GCAGTTGACCCATCTCTGTTCCCTTCACGGGTAAGGGGGCT	gttc\|CCTT
Acc marginally increased	53721	wt: 0.4351 / mu: 0.4658 (marginal change - not scored)	wt: CTCTGTTCCCTTCACAGGTAAGGGGGCTTACGTGTAGAAGC mu: CTCTGTTCCCTTCACGGGTAAGGGGGCTTACGTGTAGAAGC	gtaa\|GGGG
Acc marginally increased	53710	wt: 0.8610 / mu: 0.8764 (marginal change - not scored)	wt: AGTTGACCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTA mu: AGTTGACCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTA	tccc\|TTCA
Acc marginally increased	53715	wt: 0.9948 / mu: 0.9970 (marginal change - not scored)	wt: ACCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTACGTGT mu: ACCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTACGTGT	tcac\|AGGT
Acc increased	53709	wt: 0.22 / mu: 0.39	wt: CAGTTGACCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTT mu: CAGTTGACCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTT	ttcc\|CTTC
Acc marginally increased	53712	wt: 0.6367 / mu: 0.6635 (marginal change - not scored)	wt: TTGACCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTACG mu: TTGACCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTACG	cctt\|CACA
Acc marginally increased	53717	wt: 0.9929 / mu: 0.9943 (marginal change - not scored)	wt: CCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTACGTGTAG mu: CCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTACGTGTAG	acag\|GTAA
Donor gained	53710	0.36	mu: GTTCCCTTCACGGGT	TCCC\|ttca

distance from splice site

28727

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1	1650	REGION	Stem (By similarity).	might get lost (downstream of altered splice site)
1074	1103	COILED	Potential.	might get lost (downstream of altered splice site)
1120	1120	CONFLICT	I -> N (in Ref. 4; AAB09728).	might get lost (downstream of altered splice site)
1168	1168	CONFLICT	D -> V (in Ref. 4; AAB09728).	might get lost (downstream of altered splice site)
1651	1875	REGION	AAA 1 (By similarity).	might get lost (downstream of altered splice site)
1689	1696	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
1784	1784	CONFLICT	N -> H (in Ref. 6; CAB06054).	might get lost (downstream of altered splice site)
1864	1864	CONFLICT	W -> Y (in Ref. 6; CAB06054).	might get lost (downstream of altered splice site)
1866	1867	CONFLICT	LR -> FS (in Ref. 6; CAB06054).	might get lost (downstream of altered splice site)
1930	1930	CONFLICT	E -> K (in Ref. 1; BAE46899).	might get lost (downstream of altered splice site)
1938	2161	REGION	AAA 2 (By similarity).	might get lost (downstream of altered splice site)
1979	1986	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
2251	2505	REGION	AAA 3 (By similarity).	might get lost (downstream of altered splice site)
2291	2298	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
2617	2863	REGION	AAA 4 (By similarity).	might get lost (downstream of altered splice site)
2655	2662	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
2881	3169	REGION	Stalk (By similarity).	might get lost (downstream of altered splice site)
2897	2982	COILED	Potential.	might get lost (downstream of altered splice site)
3095	3095	CONFLICT	A -> V (in Ref. 7; CAD98012).	might get lost (downstream of altered splice site)
3109	3200	COILED	Potential.	might get lost (downstream of altered splice site)
3244	3473	REGION	AAA 5 (By similarity).	might get lost (downstream of altered splice site)
3408	3442	COILED	Potential.	might get lost (downstream of altered splice site)
3665	3665	CONFLICT	L -> P (in Ref. 7; CAD98012).	might get lost (downstream of altered splice site)
3690	3905	REGION	AAA 6 (By similarity).	might get lost (downstream of altered splice site)
4258	4258	CONFLICT	C -> R (in Ref. 3; BAB13905).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

strand

last intron/exon boundary

2658

theoretical NMD boundary in CDS

2554

length of CDS

2763

coding sequence (CDS) position

N/A

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

N/A

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

53716

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

103033875

original gDNA sequence snippet

CCCATCTCTGTTCCCTTCACAGGTAAGGGGGCTTACGTGTA

altered gDNA sequence snippet

CCCATCTCTGTTCCCTTCACGGGTAAGGGGGCTTACGTGTA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

mutated AA sequence

N/A

speed

0.63 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

mutation t@sting

Prediction

disease causing

Problems