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: ENST00000369393
Querying Taster for transcript #2: ENST00000428876
MT speed 2.67 s - this script 4.70569 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
MDN1	polymorphism_automatic	4.47633079492249e-08	simple_aae		affected		N5251K	single base exchange	rs4707557		show file
MDN1	polymorphism_automatic	4.47633079492249e-08	simple_aae		affected		N5251K	single base exchange	rs4707557		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999955236692 (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)

chr6:90362783A>CN/A show variant in all transcripts IGV

HGNC symbol

MDN1

Ensembl transcript ID

ENST00000369393

Genbank transcript ID

NM_014611

UniProt peptide

Q9NU22

alteration type

single base exchange

alteration region

CDS

DNA changes

c.15753T>G
cDNA.15869T>G
g.166660T>G

AA changes

N5251K Score: 94 explain score(s)

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

5251

frameshift

known variant

Reference ID: rs4707557

database	homozygous (C/C)	heterozygous	allele carriers
1000G	196	697	893
ExAC	1846	9042	10888

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.668	0.323
	0.131	0.055
(flanking)	-0.014	0.014

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 marginally increased	166660	wt: 0.9935 / mu: 0.9936 (marginal change - not scored)	wt: GAAAATGAGAAACCA mu: GAAAAGGAGAAACCA	AAAT\|gaga
Donor increased	166652	wt: 0.47 / mu: 0.62	wt: AGGAGACAGAAAATG mu: AGGAGACAGAAAAGG	GAGA\|caga
Donor increased	166657	wt: 0.80 / mu: 0.91	wt: ACAGAAAATGAGAAA mu: ACAGAAAAGGAGAAA	AGAA\|aatg
Donor marginally increased	166654	wt: 0.9877 / mu: 0.9984 (marginal change - not scored)	wt: GAGACAGAAAATGAG mu: GAGACAGAAAAGGAG	GACA\|gaaa
Donor gained	166659	0.75	mu: AGAAAAGGAGAAACC	AAAA\|ggag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

5251

mutated

not conserved

5251

Ptroglodytes

all identical

ENSPTRG00000018423

5249

Mmulatta

no homologue

Fcatus

no alignment

ENSFCAG00000008886

n/a

Mmusculus

all identical

ENSMUSG00000058006

5244

Ggallus

not conserved

ENSGALG00000015733

5255

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000008976

5210

Dmelanogaster

not conserved

FBgn0033661

5216

EVVLTM

Celegans

all conserved

F55F10.1

4037

Xtropicalis

not conserved

ENSXETG00000030475

2434

protein features

start (aa)	end (aa)	feature	details
5384	5583	DOMAIN	VWFA.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

16791 / 16791

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

5597 / 5597

position of stopcodon in wt / mu cDNA

16907 / 16907

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

117 / 117

chromosome

strand

-1

last intron/exon boundary

16719

theoretical NMD boundary in CDS

16552

length of CDS

16791

coding sequence (CDS) position

15753

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

15869

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

166660

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

90362783

original gDNA sequence snippet

GCCCATAAGGAGACAGAAAATGAGAAACCAGAAAGAAGCCG

altered gDNA sequence snippet

GCCCATAAGGAGACAGAAAAGGAGAAACCAGAAAGAAGCCG

original cDNA sequence snippet

GCCCATAAGGAGACAGAAAATGAGAAACCAGAAAGAAGCCG

altered cDNA sequence snippet

GCCCATAAGGAGACAGAAAAGGAGAAACCAGAAAGAAGCCG

wildtype AA sequence

MEHFLLEVAA APLRLIAAKN EKSRSELGRF LAKQVWTPQD RQCVLSTLAQ LLLDKDCTVL
VGRQLRPLLL DLLERNAEAI KAGGQINHDL HERLCVSMSK LIGNHPDVLP FALRYFKDTS
PVFQRLFLES SDANPVRYGR RRMKLRDLME AAFKFLQQEQ SVFRELWDWS VCVPLLRSHD
TLVRWYTANC LALVTCMNEE HKLSFLKKIF NSDELIHFRL RLLEEAQLQD LEKALVLANP
EVSLWRKQKE LQYLQGHLVS SDLSPRVTAV CGVVLPGQLP APGELGGNRS SSREQELALR
SYVLVESVCK SLQTLAMAVA SQNAVLLEGP IGCGKTSLVE YLAAVTGRTK PPQLLKVQLG
DQTDSKMLLG MYRCTDVPGE FVWQPGTLTQ AATMGHWILL EDIDYAPLDV VSVLIPLLEN
GELLIPGRGD CLKVAPGFQF FATRRLLSCG GNWYRPLNSH ATLLDKYWTK IHLDNLDKRE
LNEVLQSRYP SLLAVVDHLL DIYIQLTGEK HHSWSDSSVG CEQAPEEVSE ARRENKRPTL
EGRELSLRDL LNWCNRIAHS FDSSSLSASL NIFQEALDCF TAMLSEHTSK LKMAEVIGSK
LNISRKKAEF FCQLYKPEIV INELDLQVGR VRLLRKQSEA VHLQREKFTF AATRPSSVLI
EQLAVCVSKG EPVLLVGETG TGKTSTIQYL AHITGHRLRV VNMNQQSDTA DLLGGYKPVD
HKLIWLPLRE AFEELFAQTF SKKQNFTFLG HIQTCYRQKR WHDLLRLMQH VHKSAVNKDG
KDSETGLLIK EKWEAFGLRL NHAQQQMKMT ENTLLFAFVE GTLAQAVKKG EWILLDEINL
AAPEILECLS GLLEGSSGSL VLLDRGDTEP LVRHPDFRLF ACMNPATDVG KRNLPPGIRN
RFTELYVEEL ESKEDLQVLI VDYLKGLSVN KNTVQGIINF YTALRKESGT KLVDGTGHRP
HYSLRTLCRA LRFAASNPCG NIQRSLYEGF CLGFLTQLDR ASHPIVQKLI CQHIVPGNVK
SLLKQPIPEP KGGRLIQVEG YWIAVGDKEP TIDETYILTS SVKLNLRDIV RVVSAGTYPV
LIQGETSVGK TSLIQWLAAA TGNHCVRINN HEHTDIQEYI GCYTSDSSGK LVFKEGVLID
AMRKGYWIIL DELNLAPTDV LEALNRLLDD NRELLVTETQ EVVKAHPRFM LFATQNPPGL
YGGRKVLSRA FRNRFVELHF DELPSSELET ILHKRCSLPP SYCSKLVKVM LDLQSYRRSS
SVFAGKQGFI TLRDLFRWAE RYRLAEPTEK EYDWLQHLAN DGYMLLAGRV RKQEEIDVIQ
EVLEKHFKKK LCPQSLFSKE NVLKLLGKLS TQISTLECNF GHIVWTEGMR RLAMLVGRAL
EFGEPVLLVG DTGCGKTTIC QVFAALANQK LYSVSCHLHM ETSDFLGGLR PVRQKPNDKE
EIDTSRLFEW HDGPLVQAMK EDGFFLLDEI SLADDSVLER LNSVLEVEKS LVLAEKGSPE
DKDSEIELLT AGKKFRILAT MNPGGDFGKK ELSPALRNRF TEIWCPQSTS REDLIQIISH
NLRPGLCLGR IDPKGSDIPE VMLDFIDWLT HQEFGRKCVV SIRDILSWVN FMNKMGEEAA
LKRPEIISTV TSFVHAACLV YIDGIGSGVT SSGFGTALLA RKECLKFLIK RLAKIVRLTE
YQKNELKIYD RMKAKEFTGI DNLWGIHPFF IPRGPVLHRN NIADYALSAG TTAMNAQRLL
RATKLKKPIL LEGSPGVGKT SLVGALAKAS GNTLVRINLS EQTDITDLFG ADLPVEGGKG
GEFAWRDGPL LAALKAGHWV VLDELNLASQ SVLEGLNACF DHRGEIYVPE LGMSFQVQHE
KTKIFGCQNP FRQGGGRKGL PRSFLNRFTQ VFVDPLTVID MEFIASTLFP AIEKNIVKKM
VAFNNQIDHE VTVEKKWGQK GGPWEFNLRD LFRWCQLMLV DQSPGCYDPG QHVFLVYGER
MRTEEDKKKV IAVFKDVFGS NSNPYMGTRL FRITPYDVQL GYSVLSRGSC VPHPSRHPLL
LLHQSFQPLE SIMKCVQMSW MVILVGPASV GKTSLVQLLA HLTGHTLKIM AMNSAMDTTE
LLGGFEQVDL IRPWRRLLEK VEGTVRALLR DSLLISADDA EVVLRAWSHF LLTYKPKCLG
EGGKAITMEI VNKLEAVLLL MQRLNNKINS YCKAEFAKLV EEFRSFGVKL TQLASGHSHG
TFEWVDSMLV QALKSGDWLL MDNVNFCNPS VLDRLNALLE PGGVLTISER GMIDGSTPTI
TPNPNFRLFL SMDPVHGDIS RAMRNRGLEI YISGEGDAST PDNLDLKVLL HSLGLVGNSV
CDILLALHTE TRSTVVGSPT SSVSTLIQTA ILIVQYLQRG LSLDRAFSEA CWEVYVCSQH
SPANRKLVQA LLEKHVSSLR AHETWGDSIL GMGLWPDSVP SALFATEDSH LSTVRRDGQI
LVYCLNRMSM KTSSWTRSQP FTLQDLEKIM QSPSPENLKF NAVEVNTYWI DEPDVLVMAV
KLLIERATNQ DWMLRVKWLY HLAKNIPQGL ESIQIHLEAS AASLRNFYSH SLSGAVSNVF
KILQPNTTDE FVIPLDPRWN MQALDMIRNL MDFDPQTDQP DQLFALLESA ANKTIIYLDR
EKRVFTEANL VSVGSKKLRE SVLRMSFEFH QDPESYHTLP HEIVVNLAAF FELCDALVLL
WVQSSQGMVS DASANEILGS LRWRDRFWTV ADTVKVDAPG LALLALHWHW VLKHLVHQIP
RLLMNYEDKY YKEVQTVSEH IQNCLGSQTG GFAGIKKLQK FLGRPFPFKD KLVVECFSQL
KVLNKVLAIR EQMSALGESG WQEDINRLQV VASQWTLKKS LLQAWGLILR ANILEDVSLD
ELKNFVHAQC LELKAKGLSL GFLEKKHDEA SSLSHPDLTS VIHLTRSVQL WPAMEYLAML
WRYKVTADFM AQACLRRCSK NQQPQINEEI SHLISFCLYH TPVTPQELRD LWSLLHHQKV
SPEEITSLWS ELFNSMFMSF WSSTVTTNPE YWLMWNPLPG MQQREAPKSV LDSTLKGPGN
LNRPIFSKCC FEVLTSSWRA SPWDVSGLPI LSSSHVTLGE WVERTQQLQD ISSMLWTNMA
ISSVAEFRRT DSQLQGQVLF RHLAGLAELL PESRRQEYMQ NCEQLLLGSS QAFQHVGQTL
GDMAGQEVLP KELLCQLLTS LHHFVGEGES KRSLPEPAQR GSLWVSLGLL QIQTWLPQAR
FDPAVKREYK LNYVKEELHQ LQCEWKTRNL SSQLQTGRDL EDEVVVSYSH PHVRLLRQRM
DRLDNLTCHL LKKQAFRPQL PAYESLVQEI HHYVTSIAKA PAVQDLLTRL LQALHIDGPR
SAQVAQSLLK EEASWQQSHH QFRKRLSEEY TFYPDAVSPL QASILQLQHG MRLVASELHT
SLHSSMVGAD RLGTLATALL AFPSVGPTFP TYYAHADTLC SVKSEEVLRG LGKLILKRSG
GKELEGKGQK ACPTREQLLM NALLYLRSHV LCKGELDQRA LQLFRHVCQE IISEWDEQER
IAQEKAEQES GLYRYRSRNS RTALSEEEEE EREFRKQFPL HEKDFADILV QPTLEENKGT
SDGQEEEAGT NPALLSQNSM QAVMLIHQQL CLNFARSLWY QQTLPPHEAK HYLSLFLSCY
QTGASLVTHF YPLMGVELND RLLGSQLLAC TLSHNTLFGE APSDLMVKPD GPYDFYQHPN
VPEARQCQPV LQGFSEAVSH LLQDWPEHPA LEQLLVVMDR IRSFPLSSPI SKFLNGLEIL
LAKAQDWEEN ASRALSLRKH LDLISQMIIR WRKLELNCWS MSLDNTMKRH TEKSTKHWFS
IYQMLEKHMQ EQTEEQEDDK QMTLMLLVST LQAFIEGSSL GEFHVRLQML LVFHCHVLLM
PQVEGKDSLC SVLWNLYHYY KQFFDRVQAK IVELRSPLEK ELKEFVKISK WNDVSFWSIK
QSVEKTHRTL FKFMKKFEAV LSEPCRSSLV ESDKEEQPDF LPRPTDGAAS ELSSIQNLNR
ALRETLLAQP AAGQATIPEW CQGAAPSGLE GELLRRLPKL RKRMRKMCLT FMKESPLPRL
VEGLDQFTGE VISSVSELQS LKVEPSAEKE KQRSEAKHIL MQKQRALSDL FKHLAKIGLS
YRKGLAWARS KNPQEMLHLH PLDLQSALSI VSSTQEADSR LLTEISSSWD GCQKYFYRSL
ARHARLNAAL ATPAKEMGMG NVERCRGFSA HLMKMLVRQR RSLTTLSEQW IILRNLLSCV
QEIHSRLMGP QAYPVAFPPQ DGVQQWTERL QHLAMQCQIL LEQLSWLLQC CPSVGPAPGH
GNVQVLGQPP GPCLEGPELS KGQLCGVVLD LIPSNLSYPS PIPGSQLPSG CRMRKQDHLW
QQSTTRLTEM LKTIKTVKAD VDKIRQQSCE TLFHSWKDFE VCSSALSCLS QVSVHLQGLE
SLFILPGMEV EQRDSQMALV ESLEYVRGEI SKAMADFTTW KTHLLTSDSQ GGNQMLDEGF
VEDFSEQMEI AIRAILCAIQ NLEERKNEKA EENTDQASPQ EDYAGFERLQ SGHLTKLLED
DFWADVSTLH VQKIISAISE LLERLKSYGE DGTAAKHLFF SQSCSLLVRL VPVLSSYSDL
VLFFLTMSLA THRSTAKLLS VLAQVFTELA QKGFCLPKEF MEDSAGEGAT EFHDYEGGGI
GEGEGMKDVS DQIGNEEQVE DTFQKGQEKD KEDPDSKSDI KGEDNAIEMS EDFDGKMHDG
ELEEQEEDDE KSDSEGGDLD KHMGDLNGEE ADKLDERLWG DDDEEEDEEE EDNKTEETGP
GMDEEDSELV AKDDNLDSGN SNKDKSQQDK KEEKEEAEAD DGGQGEDKIN EQIDERDYDE
NEVDPYHGNQ EKVPEPEALD LPDDLNLDSE DKNGGEDTDN EEGEEENPLE IKEKPEEAGH
EAEERGETET DQNESQSPQE PEEGPSEDDK AEGEEEMDTG ADDQDGDAAQ HPEEHSEEQQ
QSVEEKDKEA DEEGGENGPA DQGFQPQEEE EREDSDTEEQ VPEALERKEH ASCGQTGVEN
MQNTQAMELA GAAPEKEQGK EEHGSGAADA NQAEGHESNF IAQLASQKHT RKNTQSFKRK
PGQADNERSM GDHNERVHKR LRTVDTDSHA EQGPAQQPQA QVEDADAFEH IKQGSDAYDA
QTYDVASKEQ QQSAKDSGKD QEEEEIEDTL MDTEEQEEFK AADVEQLKPE EIKSGTTAPL
GFDEMEVEIQ TVKTEEDQDP RTDKAHKETE NEKPERSRES TIHTAHQFLM DTIFQPFLKD
VNELRQELER QLEMWQPRES GNPEEEKVAA EMWQSYLILT APLSQRLCEE LRLILEPTQA
AKLKGDYRTG KRLNIRKVIP YIASQFRKDK IWLRRTKPSK RQYQICLAID DSSSMVDNHT
KQLAFESLAV IGNALTLLEV GQIAVCSFGE SVKLLHPFHE QFSDYSGSQI LRLCKFQQKK
TKIAQFLESV ANMFAAAQQL SQNISSETAQ LLLVVSDGRG LFLEGKERVL AAVQAARNAN
IFVIFVVLDN PSSRDSILDI KVPIFKGPGE MPEIRSYMEE FPFPYYIILR DVNALPETLS
DALRQWFELV TASDHP*

mutated AA sequence

MEHFLLEVAA APLRLIAAKN EKSRSELGRF LAKQVWTPQD RQCVLSTLAQ LLLDKDCTVL
VGRQLRPLLL DLLERNAEAI KAGGQINHDL HERLCVSMSK LIGNHPDVLP FALRYFKDTS
PVFQRLFLES SDANPVRYGR RRMKLRDLME AAFKFLQQEQ SVFRELWDWS VCVPLLRSHD
TLVRWYTANC LALVTCMNEE HKLSFLKKIF NSDELIHFRL RLLEEAQLQD LEKALVLANP
EVSLWRKQKE LQYLQGHLVS SDLSPRVTAV CGVVLPGQLP APGELGGNRS SSREQELALR
SYVLVESVCK SLQTLAMAVA SQNAVLLEGP IGCGKTSLVE YLAAVTGRTK PPQLLKVQLG
DQTDSKMLLG MYRCTDVPGE FVWQPGTLTQ AATMGHWILL EDIDYAPLDV VSVLIPLLEN
GELLIPGRGD CLKVAPGFQF FATRRLLSCG GNWYRPLNSH ATLLDKYWTK IHLDNLDKRE
LNEVLQSRYP SLLAVVDHLL DIYIQLTGEK HHSWSDSSVG CEQAPEEVSE ARRENKRPTL
EGRELSLRDL LNWCNRIAHS FDSSSLSASL NIFQEALDCF TAMLSEHTSK LKMAEVIGSK
LNISRKKAEF FCQLYKPEIV INELDLQVGR VRLLRKQSEA VHLQREKFTF AATRPSSVLI
EQLAVCVSKG EPVLLVGETG TGKTSTIQYL AHITGHRLRV VNMNQQSDTA DLLGGYKPVD
HKLIWLPLRE AFEELFAQTF SKKQNFTFLG HIQTCYRQKR WHDLLRLMQH VHKSAVNKDG
KDSETGLLIK EKWEAFGLRL NHAQQQMKMT ENTLLFAFVE GTLAQAVKKG EWILLDEINL
AAPEILECLS GLLEGSSGSL VLLDRGDTEP LVRHPDFRLF ACMNPATDVG KRNLPPGIRN
RFTELYVEEL ESKEDLQVLI VDYLKGLSVN KNTVQGIINF YTALRKESGT KLVDGTGHRP
HYSLRTLCRA LRFAASNPCG NIQRSLYEGF CLGFLTQLDR ASHPIVQKLI CQHIVPGNVK
SLLKQPIPEP KGGRLIQVEG YWIAVGDKEP TIDETYILTS SVKLNLRDIV RVVSAGTYPV
LIQGETSVGK TSLIQWLAAA TGNHCVRINN HEHTDIQEYI GCYTSDSSGK LVFKEGVLID
AMRKGYWIIL DELNLAPTDV LEALNRLLDD NRELLVTETQ EVVKAHPRFM LFATQNPPGL
YGGRKVLSRA FRNRFVELHF DELPSSELET ILHKRCSLPP SYCSKLVKVM LDLQSYRRSS
SVFAGKQGFI TLRDLFRWAE RYRLAEPTEK EYDWLQHLAN DGYMLLAGRV RKQEEIDVIQ
EVLEKHFKKK LCPQSLFSKE NVLKLLGKLS TQISTLECNF GHIVWTEGMR RLAMLVGRAL
EFGEPVLLVG DTGCGKTTIC QVFAALANQK LYSVSCHLHM ETSDFLGGLR PVRQKPNDKE
EIDTSRLFEW HDGPLVQAMK EDGFFLLDEI SLADDSVLER LNSVLEVEKS LVLAEKGSPE
DKDSEIELLT AGKKFRILAT MNPGGDFGKK ELSPALRNRF TEIWCPQSTS REDLIQIISH
NLRPGLCLGR IDPKGSDIPE VMLDFIDWLT HQEFGRKCVV SIRDILSWVN FMNKMGEEAA
LKRPEIISTV TSFVHAACLV YIDGIGSGVT SSGFGTALLA RKECLKFLIK RLAKIVRLTE
YQKNELKIYD RMKAKEFTGI DNLWGIHPFF IPRGPVLHRN NIADYALSAG TTAMNAQRLL
RATKLKKPIL LEGSPGVGKT SLVGALAKAS GNTLVRINLS EQTDITDLFG ADLPVEGGKG
GEFAWRDGPL LAALKAGHWV VLDELNLASQ SVLEGLNACF DHRGEIYVPE LGMSFQVQHE
KTKIFGCQNP FRQGGGRKGL PRSFLNRFTQ VFVDPLTVID MEFIASTLFP AIEKNIVKKM
VAFNNQIDHE VTVEKKWGQK GGPWEFNLRD LFRWCQLMLV DQSPGCYDPG QHVFLVYGER
MRTEEDKKKV IAVFKDVFGS NSNPYMGTRL FRITPYDVQL GYSVLSRGSC VPHPSRHPLL
LLHQSFQPLE SIMKCVQMSW MVILVGPASV GKTSLVQLLA HLTGHTLKIM AMNSAMDTTE
LLGGFEQVDL IRPWRRLLEK VEGTVRALLR DSLLISADDA EVVLRAWSHF LLTYKPKCLG
EGGKAITMEI VNKLEAVLLL MQRLNNKINS YCKAEFAKLV EEFRSFGVKL TQLASGHSHG
TFEWVDSMLV QALKSGDWLL MDNVNFCNPS VLDRLNALLE PGGVLTISER GMIDGSTPTI
TPNPNFRLFL SMDPVHGDIS RAMRNRGLEI YISGEGDAST PDNLDLKVLL HSLGLVGNSV
CDILLALHTE TRSTVVGSPT SSVSTLIQTA ILIVQYLQRG LSLDRAFSEA CWEVYVCSQH
SPANRKLVQA LLEKHVSSLR AHETWGDSIL GMGLWPDSVP SALFATEDSH LSTVRRDGQI
LVYCLNRMSM KTSSWTRSQP FTLQDLEKIM QSPSPENLKF NAVEVNTYWI DEPDVLVMAV
KLLIERATNQ DWMLRVKWLY HLAKNIPQGL ESIQIHLEAS AASLRNFYSH SLSGAVSNVF
KILQPNTTDE FVIPLDPRWN MQALDMIRNL MDFDPQTDQP DQLFALLESA ANKTIIYLDR
EKRVFTEANL VSVGSKKLRE SVLRMSFEFH QDPESYHTLP HEIVVNLAAF FELCDALVLL
WVQSSQGMVS DASANEILGS LRWRDRFWTV ADTVKVDAPG LALLALHWHW VLKHLVHQIP
RLLMNYEDKY YKEVQTVSEH IQNCLGSQTG GFAGIKKLQK FLGRPFPFKD KLVVECFSQL
KVLNKVLAIR EQMSALGESG WQEDINRLQV VASQWTLKKS LLQAWGLILR ANILEDVSLD
ELKNFVHAQC LELKAKGLSL GFLEKKHDEA SSLSHPDLTS VIHLTRSVQL WPAMEYLAML
WRYKVTADFM AQACLRRCSK NQQPQINEEI SHLISFCLYH TPVTPQELRD LWSLLHHQKV
SPEEITSLWS ELFNSMFMSF WSSTVTTNPE YWLMWNPLPG MQQREAPKSV LDSTLKGPGN
LNRPIFSKCC FEVLTSSWRA SPWDVSGLPI LSSSHVTLGE WVERTQQLQD ISSMLWTNMA
ISSVAEFRRT DSQLQGQVLF RHLAGLAELL PESRRQEYMQ NCEQLLLGSS QAFQHVGQTL
GDMAGQEVLP KELLCQLLTS LHHFVGEGES KRSLPEPAQR GSLWVSLGLL QIQTWLPQAR
FDPAVKREYK LNYVKEELHQ LQCEWKTRNL SSQLQTGRDL EDEVVVSYSH PHVRLLRQRM
DRLDNLTCHL LKKQAFRPQL PAYESLVQEI HHYVTSIAKA PAVQDLLTRL LQALHIDGPR
SAQVAQSLLK EEASWQQSHH QFRKRLSEEY TFYPDAVSPL QASILQLQHG MRLVASELHT
SLHSSMVGAD RLGTLATALL AFPSVGPTFP TYYAHADTLC SVKSEEVLRG LGKLILKRSG
GKELEGKGQK ACPTREQLLM NALLYLRSHV LCKGELDQRA LQLFRHVCQE IISEWDEQER
IAQEKAEQES GLYRYRSRNS RTALSEEEEE EREFRKQFPL HEKDFADILV QPTLEENKGT
SDGQEEEAGT NPALLSQNSM QAVMLIHQQL CLNFARSLWY QQTLPPHEAK HYLSLFLSCY
QTGASLVTHF YPLMGVELND RLLGSQLLAC TLSHNTLFGE APSDLMVKPD GPYDFYQHPN
VPEARQCQPV LQGFSEAVSH LLQDWPEHPA LEQLLVVMDR IRSFPLSSPI SKFLNGLEIL
LAKAQDWEEN ASRALSLRKH LDLISQMIIR WRKLELNCWS MSLDNTMKRH TEKSTKHWFS
IYQMLEKHMQ EQTEEQEDDK QMTLMLLVST LQAFIEGSSL GEFHVRLQML LVFHCHVLLM
PQVEGKDSLC SVLWNLYHYY KQFFDRVQAK IVELRSPLEK ELKEFVKISK WNDVSFWSIK
QSVEKTHRTL FKFMKKFEAV LSEPCRSSLV ESDKEEQPDF LPRPTDGAAS ELSSIQNLNR
ALRETLLAQP AAGQATIPEW CQGAAPSGLE GELLRRLPKL RKRMRKMCLT FMKESPLPRL
VEGLDQFTGE VISSVSELQS LKVEPSAEKE KQRSEAKHIL MQKQRALSDL FKHLAKIGLS
YRKGLAWARS KNPQEMLHLH PLDLQSALSI VSSTQEADSR LLTEISSSWD GCQKYFYRSL
ARHARLNAAL ATPAKEMGMG NVERCRGFSA HLMKMLVRQR RSLTTLSEQW IILRNLLSCV
QEIHSRLMGP QAYPVAFPPQ DGVQQWTERL QHLAMQCQIL LEQLSWLLQC CPSVGPAPGH
GNVQVLGQPP GPCLEGPELS KGQLCGVVLD LIPSNLSYPS PIPGSQLPSG CRMRKQDHLW
QQSTTRLTEM LKTIKTVKAD VDKIRQQSCE TLFHSWKDFE VCSSALSCLS QVSVHLQGLE
SLFILPGMEV EQRDSQMALV ESLEYVRGEI SKAMADFTTW KTHLLTSDSQ GGNQMLDEGF
VEDFSEQMEI AIRAILCAIQ NLEERKNEKA EENTDQASPQ EDYAGFERLQ SGHLTKLLED
DFWADVSTLH VQKIISAISE LLERLKSYGE DGTAAKHLFF SQSCSLLVRL VPVLSSYSDL
VLFFLTMSLA THRSTAKLLS VLAQVFTELA QKGFCLPKEF MEDSAGEGAT EFHDYEGGGI
GEGEGMKDVS DQIGNEEQVE DTFQKGQEKD KEDPDSKSDI KGEDNAIEMS EDFDGKMHDG
ELEEQEEDDE KSDSEGGDLD KHMGDLNGEE ADKLDERLWG DDDEEEDEEE EDNKTEETGP
GMDEEDSELV AKDDNLDSGN SNKDKSQQDK KEEKEEAEAD DGGQGEDKIN EQIDERDYDE
NEVDPYHGNQ EKVPEPEALD LPDDLNLDSE DKNGGEDTDN EEGEEENPLE IKEKPEEAGH
EAEERGETET DQNESQSPQE PEEGPSEDDK AEGEEEMDTG ADDQDGDAAQ HPEEHSEEQQ
QSVEEKDKEA DEEGGENGPA DQGFQPQEEE EREDSDTEEQ VPEALERKEH ASCGQTGVEN
MQNTQAMELA GAAPEKEQGK EEHGSGAADA NQAEGHESNF IAQLASQKHT RKNTQSFKRK
PGQADNERSM GDHNERVHKR LRTVDTDSHA EQGPAQQPQA QVEDADAFEH IKQGSDAYDA
QTYDVASKEQ QQSAKDSGKD QEEEEIEDTL MDTEEQEEFK AADVEQLKPE EIKSGTTAPL
GFDEMEVEIQ TVKTEEDQDP RTDKAHKETE KEKPERSRES TIHTAHQFLM DTIFQPFLKD
VNELRQELER QLEMWQPRES GNPEEEKVAA EMWQSYLILT APLSQRLCEE LRLILEPTQA
AKLKGDYRTG KRLNIRKVIP YIASQFRKDK IWLRRTKPSK RQYQICLAID DSSSMVDNHT
KQLAFESLAV IGNALTLLEV GQIAVCSFGE SVKLLHPFHE QFSDYSGSQI LRLCKFQQKK
TKIAQFLESV ANMFAAAQQL SQNISSETAQ LLLVVSDGRG LFLEGKERVL AAVQAARNAN
IFVIFVVLDN PSSRDSILDI KVPIFKGPGE MPEIRSYMEE FPFPYYIILR DVNALPETLS
DALRQWFELV TASDHP*

speed

1.34 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: 0.999999955236692 (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)

chr6:90362783A>CN/A show variant in all transcripts IGV

HGNC symbol

MDN1

Ensembl transcript ID

ENST00000428876

Genbank transcript ID

N/A

UniProt peptide

Q9NU22

alteration type

single base exchange

alteration region

CDS

DNA changes

c.15753T>G
cDNA.15869T>G
g.166660T>G

AA changes

N5251K Score: 94 explain score(s)

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

5251

frameshift

known variant

Reference ID: rs4707557

database	homozygous (C/C)	heterozygous	allele carriers
1000G	196	697	893
ExAC	1846	9042	10888

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.668	0.323
	0.131	0.055
(flanking)	-0.014	0.014

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 marginally increased	166660	wt: 0.9935 / mu: 0.9936 (marginal change - not scored)	wt: GAAAATGAGAAACCA mu: GAAAAGGAGAAACCA	AAAT\|gaga
Donor increased	166652	wt: 0.47 / mu: 0.62	wt: AGGAGACAGAAAATG mu: AGGAGACAGAAAAGG	GAGA\|caga
Donor increased	166657	wt: 0.80 / mu: 0.91	wt: ACAGAAAATGAGAAA mu: ACAGAAAAGGAGAAA	AGAA\|aatg
Donor marginally increased	166654	wt: 0.9877 / mu: 0.9984 (marginal change - not scored)	wt: GAGACAGAAAATGAG mu: GAGACAGAAAAGGAG	GACA\|gaaa
Donor gained	166659	0.75	mu: AGAAAAGGAGAAACC	AAAA\|ggag

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

5251

mutated

not conserved

5251

Ptroglodytes

all identical

ENSPTRG00000018423

5249

Mmulatta

no homologue

Fcatus

no alignment

ENSFCAG00000008886

n/a

Mmusculus

all identical

ENSMUSG00000058006

5244

Ggallus

not conserved

ENSGALG00000015733

5255

Trubripes

no homologue

Drerio

not conserved

ENSDARG00000008976

5210

Dmelanogaster

not conserved

FBgn0033661

5216

EVVLTM

Celegans

all conserved

F55F10.1

4037

Xtropicalis

not conserved

ENSXETG00000030475

2434

protein features

start (aa)	end (aa)	feature	details
5384	5583	DOMAIN	VWFA.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

16791 / 16791

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

5597 / 5597

position of stopcodon in wt / mu cDNA

16907 / 16907

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

117 / 117

chromosome

strand

-1

last intron/exon boundary

16719

theoretical NMD boundary in CDS

16552

length of CDS

16791

coding sequence (CDS) position

15753

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

15869

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

166660

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

90362783

original gDNA sequence snippet

GCCCATAAGGAGACAGAAAATGAGAAACCAGAAAGAAGCCG

altered gDNA sequence snippet

GCCCATAAGGAGACAGAAAAGGAGAAACCAGAAAGAAGCCG

original cDNA sequence snippet

GCCCATAAGGAGACAGAAAATGAGAAACCAGAAAGAAGCCG

altered cDNA sequence snippet

GCCCATAAGGAGACAGAAAAGGAGAAACCAGAAAGAAGCCG

wildtype AA sequence

mutated AA sequence

MEHFLLEVAA APLRLIAAKN EKSRSELGRF LAKQVWTPQD RQCVLSTLAQ LLLDKDCTVL
VGRQLRPLLL DLLERNAEAI KAGGQINHDL HERLCVSMSK LIGNHPDVLP FALRYFKDTS
PVFQRLFLES SDANPVRYGR RRMKLRDLME AAFKFLQQEQ SVFRELWDWS VCVPLLRSHD
TLVRWYTANC LALVTCMNEE HKLSFLKKIF NSDELIHFRL RLLEEAQLQD LEKALVLANP
EVSLWRKQKE LQYLQGHLVS SDLSPRVTAV CGVVLPGQLP APGELGGNRS SSREQELALR
SYVLVESVCK SLQTLAMAVA SQNAVLLEGP IGCGKTSLVE YLAAVTGRTK PPQLLKVQLG
DQTDSKMLLG MYRCTDVPGE FVWQPGTLTQ AATMGHWILL EDIDYAPLDV VSVLIPLLEN
GELLIPGRGD CLKVAPGFQF FATRRLLSCG GNWYRPLNSH ATLLDKYWTK IHLDNLDKRE
LNEVLQSRYP SLLAVVDHLL DIYIQLTGEK HHSWSDSSVG CEQAPEEVSE ARRENKRPTL
EGRELSLRDL LNWCNRIAHS FDSSSLSASL NIFQEALDCF TAMLSEHTSK LKMAEVIGSK
LNISRKKAEF FCQLYKPEIV INELDLQVGR VRLLRKQSEA VHLQREKFTF AATRPSSVLI
EQLAVCVSKG EPVLLVGETG TGKTSTIQYL AHITGHRLRV VNMNQQSDTA DLLGGYKPVD
HKLIWLPLRE AFEELFAQTF SKKQNFTFLG HIQTCYRQKR WHDLLRLMQH VHKSAVNKDG
KDSETGLLIK EKWEAFGLRL NHAQQQMKMT ENTLLFAFVE GTLAQAVKKG EWILLDEINL
AAPEILECLS GLLEGSSGSL VLLDRGDTEP LVRHPDFRLF ACMNPATDVG KRNLPPGIRN
RFTELYVEEL ESKEDLQVLI VDYLKGLSVN KNTVQGIINF YTALRKESGT KLVDGTGHRP
HYSLRTLCRA LRFAASNPCG NIQRSLYEGF CLGFLTQLDR ASHPIVQKLI CQHIVPGNVK
SLLKQPIPEP KGGRLIQVEG YWIAVGDKEP TIDETYILTS SVKLNLRDIV RVVSAGTYPV
LIQGETSVGK TSLIQWLAAA TGNHCVRINN HEHTDIQEYI GCYTSDSSGK LVFKEGVLID
AMRKGYWIIL DELNLAPTDV LEALNRLLDD NRELLVTETQ EVVKAHPRFM LFATQNPPGL
YGGRKVLSRA FRNRFVELHF DELPSSELET ILHKRCSLPP SYCSKLVKVM LDLQSYRRSS
SVFAGKQGFI TLRDLFRWAE RYRLAEPTEK EYDWLQHLAN DGYMLLAGRV RKQEEIDVIQ
EVLEKHFKKK LCPQSLFSKE NVLKLLGKLS TQISTLECNF GHIVWTEGMR RLAMLVGRAL
EFGEPVLLVG DTGCGKTTIC QVFAALANQK LYSVSCHLHM ETSDFLGGLR PVRQKPNDKE
EIDTSRLFEW HDGPLVQAMK EDGFFLLDEI SLADDSVLER LNSVLEVEKS LVLAEKGSPE
DKDSEIELLT AGKKFRILAT MNPGGDFGKK ELSPALRNRF TEIWCPQSTS REDLIQIISH
NLRPGLCLGR IDPKGSDIPE VMLDFIDWLT HQEFGRKCVV SIRDILSWVN FMNKMGEEAA
LKRPEIISTV TSFVHAACLV YIDGIGSGVT SSGFGTALLA RKECLKFLIK RLAKIVRLTE
YQKNELKIYD RMKAKEFTGI DNLWGIHPFF IPRGPVLHRN NIADYALSAG TTAMNAQRLL
RATKLKKPIL LEGSPGVGKT SLVGALAKAS GNTLVRINLS EQTDITDLFG ADLPVEGGKG
GEFAWRDGPL LAALKAGHWV VLDELNLASQ SVLEGLNACF DHRGEIYVPE LGMSFQVQHE
KTKIFGCQNP FRQGGGRKGL PRSFLNRFTQ VFVDPLTVID MEFIASTLFP AIEKNIVKKM
VAFNNQIDHE VTVEKKWGQK GGPWEFNLRD LFRWCQLMLV DQSPGCYDPG QHVFLVYGER
MRTEEDKKKV IAVFKDVFGS NSNPYMGTRL FRITPYDVQL GYSVLSRGSC VPHPSRHPLL
LLHQSFQPLE SIMKCVQMSW MVILVGPASV GKTSLVQLLA HLTGHTLKIM AMNSAMDTTE
LLGGFEQVDL IRPWRRLLEK VEGTVRALLR DSLLISADDA EVVLRAWSHF LLTYKPKCLG
EGGKAITMEI VNKLEAVLLL MQRLNNKINS YCKAEFAKLV EEFRSFGVKL TQLASGHSHG
TFEWVDSMLV QALKSGDWLL MDNVNFCNPS VLDRLNALLE PGGVLTISER GMIDGSTPTI
TPNPNFRLFL SMDPVHGDIS RAMRNRGLEI YISGEGDAST PDNLDLKVLL HSLGLVGNSV
CDILLALHTE TRSTVVGSPT SSVSTLIQTA ILIVQYLQRG LSLDRAFSEA CWEVYVCSQH
SPANRKLVQA LLEKHVSSLR AHETWGDSIL GMGLWPDSVP SALFATEDSH LSTVRRDGQI
LVYCLNRMSM KTSSWTRSQP FTLQDLEKIM QSPSPENLKF NAVEVNTYWI DEPDVLVMAV
KLLIERATNQ DWMLRVKWLY HLAKNIPQGL ESIQIHLEAS AASLRNFYSH SLSGAVSNVF
KILQPNTTDE FVIPLDPRWN MQALDMIRNL MDFDPQTDQP DQLFALLESA ANKTIIYLDR
EKRVFTEANL VSVGSKKLRE SVLRMSFEFH QDPESYHTLP HEIVVNLAAF FELCDALVLL
WVQSSQGMVS DASANEILGS LRWRDRFWTV ADTVKVDAPG LALLALHWHW VLKHLVHQIP
RLLMNYEDKY YKEVQTVSEH IQNCLGSQTG GFAGIKKLQK FLGRPFPFKD KLVVECFSQL
KVLNKVLAIR EQMSALGESG WQEDINRLQV VASQWTLKKS LLQAWGLILR ANILEDVSLD
ELKNFVHAQC LELKAKGLSL GFLEKKHDEA SSLSHPDLTS VIHLTRSVQL WPAMEYLAML
WRYKVTADFM AQACLRRCSK NQQPQINEEI SHLISFCLYH TPVTPQELRD LWSLLHHQKV
SPEEITSLWS ELFNSMFMSF WSSTVTTNPE YWLMWNPLPG MQQREAPKSV LDSTLKGPGN
LNRPIFSKCC FEVLTSSWRA SPWDVSGLPI LSSSHVTLGE WVERTQQLQD ISSMLWTNMA
ISSVAEFRRT DSQLQGQVLF RHLAGLAELL PESRRQEYMQ NCEQLLLGSS QAFQHVGQTL
GDMAGQEVLP KELLCQLLTS LHHFVGEGES KRSLPEPAQR GSLWVSLGLL QIQTWLPQAR
FDPAVKREYK LNYVKEELHQ LQCEWKTRNL SSQLQTGRDL EDEVVVSYSH PHVRLLRQRM
DRLDNLTCHL LKKQAFRPQL PAYESLVQEI HHYVTSIAKA PAVQDLLTRL LQALHIDGPR
SAQVAQSLLK EEASWQQSHH QFRKRLSEEY TFYPDAVSPL QASILQLQHG MRLVASELHT
SLHSSMVGAD RLGTLATALL AFPSVGPTFP TYYAHADTLC SVKSEEVLRG LGKLILKRSG
GKELEGKGQK ACPTREQLLM NALLYLRSHV LCKGELDQRA LQLFRHVCQE IISEWDEQER
IAQEKAEQES GLYRYRSRNS RTALSEEEEE EREFRKQFPL HEKDFADILV QPTLEENKGT
SDGQEEEAGT NPALLSQNSM QAVMLIHQQL CLNFARSLWY QQTLPPHEAK HYLSLFLSCY
QTGASLVTHF YPLMGVELND RLLGSQLLAC TLSHNTLFGE APSDLMVKPD GPYDFYQHPN
VPEARQCQPV LQGFSEAVSH LLQDWPEHPA LEQLLVVMDR IRSFPLSSPI SKFLNGLEIL
LAKAQDWEEN ASRALSLRKH LDLISQMIIR WRKLELNCWS MSLDNTMKRH TEKSTKHWFS
IYQMLEKHMQ EQTEEQEDDK QMTLMLLVST LQAFIEGSSL GEFHVRLQML LVFHCHVLLM
PQVEGKDSLC SVLWNLYHYY KQFFDRVQAK IVELRSPLEK ELKEFVKISK WNDVSFWSIK
QSVEKTHRTL FKFMKKFEAV LSEPCRSSLV ESDKEEQPDF LPRPTDGAAS ELSSIQNLNR
ALRETLLAQP AAGQATIPEW CQGAAPSGLE GELLRRLPKL RKRMRKMCLT FMKESPLPRL
VEGLDQFTGE VISSVSELQS LKVEPSAEKE KQRSEAKHIL MQKQRALSDL FKHLAKIGLS
YRKGLAWARS KNPQEMLHLH PLDLQSALSI VSSTQEADSR LLTEISSSWD GCQKYFYRSL
ARHARLNAAL ATPAKEMGMG NVERCRGFSA HLMKMLVRQR RSLTTLSEQW IILRNLLSCV
QEIHSRLMGP QAYPVAFPPQ DGVQQWTERL QHLAMQCQIL LEQLSWLLQC CPSVGPAPGH
GNVQVLGQPP GPCLEGPELS KGQLCGVVLD LIPSNLSYPS PIPGSQLPSG CRMRKQDHLW
QQSTTRLTEM LKTIKTVKAD VDKIRQQSCE TLFHSWKDFE VCSSALSCLS QVSVHLQGLE
SLFILPGMEV EQRDSQMALV ESLEYVRGEI SKAMADFTTW KTHLLTSDSQ GGNQMLDEGF
VEDFSEQMEI AIRAILCAIQ NLEERKNEKA EENTDQASPQ EDYAGFERLQ SGHLTKLLED
DFWADVSTLH VQKIISAISE LLERLKSYGE DGTAAKHLFF SQSCSLLVRL VPVLSSYSDL
VLFFLTMSLA THRSTAKLLS VLAQVFTELA QKGFCLPKEF MEDSAGEGAT EFHDYEGGGI
GEGEGMKDVS DQIGNEEQVE DTFQKGQEKD KEDPDSKSDI KGEDNAIEMS EDFDGKMHDG
ELEEQEEDDE KSDSEGGDLD KHMGDLNGEE ADKLDERLWG DDDEEEDEEE EDNKTEETGP
GMDEEDSELV AKDDNLDSGN SNKDKSQQDK KEEKEEAEAD DGGQGEDKIN EQIDERDYDE
NEVDPYHGNQ EKVPEPEALD LPDDLNLDSE DKNGGEDTDN EEGEEENPLE IKEKPEEAGH
EAEERGETET DQNESQSPQE PEEGPSEDDK AEGEEEMDTG ADDQDGDAAQ HPEEHSEEQQ
QSVEEKDKEA DEEGGENGPA DQGFQPQEEE EREDSDTEEQ VPEALERKEH ASCGQTGVEN
MQNTQAMELA GAAPEKEQGK EEHGSGAADA NQAEGHESNF IAQLASQKHT RKNTQSFKRK
PGQADNERSM GDHNERVHKR LRTVDTDSHA EQGPAQQPQA QVEDADAFEH IKQGSDAYDA
QTYDVASKEQ QQSAKDSGKD QEEEEIEDTL MDTEEQEEFK AADVEQLKPE EIKSGTTAPL
GFDEMEVEIQ TVKTEEDQDP RTDKAHKETE KEKPERSRES TIHTAHQFLM DTIFQPFLKD
VNELRQELER QLEMWQPRES GNPEEEKVAA EMWQSYLILT APLSQRLCEE LRLILEPTQA
AKLKGDYRTG KRLNIRKVIP YIASQFRKDK IWLRRTKPSK RQYQICLAID DSSSMVDNHT
KQLAFESLAV IGNALTLLEV GQIAVCSFGE SVKLLHPFHE QFSDYSGSQI LRLCKFQQKK
TKIAQFLESV ANMFAAAQQL SQNISSETAQ LLLVVSDGRG LFLEGKERVL AAVQAARNAN
IFVIFVVLDN PSSRDSILDI KVPIFKGPGE MPEIRSYMEE FPFPYYIILR DVNALPETLS
DALRQWFELV TASDHP*

speed

1.33 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems