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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000284548
Querying Taster for transcript #2: ENST00000570156
Querying Taster for transcript #3: ENST00000422127
Querying Taster for transcript #4: ENST00000366707
Querying Taster for transcript #5: ENST00000366709
MT speed 0 s - this script 4.608383 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
OBSCN	polymorphism_automatic	1.00685623904972e-06	simple_aae				D5674G	single base exchange	rs373610		show file
OBSCN	polymorphism_automatic	1.67198270895064e-06	simple_aae				D4962G	single base exchange	rs373610		show file
OBSCN	polymorphism_automatic	1.67198270895064e-06	simple_aae				D4962G	single base exchange	rs373610		show file
OBSCN	polymorphism_automatic	1.67198270895064e-06	simple_aae				D2596G	single base exchange	rs373610		show file
OBSCN	polymorphism_automatic	1.67198270895064e-06	simple_aae				D2081G	single base exchange	rs373610		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999998993143761 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:228509427A>GN/A show variant in all transcripts IGV

HGNC symbol

OBSCN

Ensembl transcript ID

ENST00000570156

Genbank transcript ID

N/A

UniProt peptide

Q5VST9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.17021A>G
cDNA.17095A>G
g.113597A>G

AA changes

D5674G Score: 94 explain score(s)

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

5674

frameshift

known variant

Reference ID: rs373610

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1226	977	2203
ExAC	28901	-25035	3866

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.599	0.96
	0.225	0.118
(flanking)	-0.135	0.019

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	113590	wt: 0.9539 / mu: 0.9699 (marginal change - not scored)	wt: CCTGCTCTCTGCTGATCACTGGCCTGGACCGTGCTGATGCT mu: CCTGCTCTCTGCTGATCACTGGCCTGGGCCGTGCTGATGCT	actg\|GCCT
Acc marginally increased	113587	wt: 0.8180 / mu: 0.8378 (marginal change - not scored)	wt: GCACCTGCTCTCTGCTGATCACTGGCCTGGACCGTGCTGAT mu: GCACCTGCTCTCTGCTGATCACTGGCCTGGGCCGTGCTGAT	atca\|CTGG

distance from splice site

383

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

5674

mutated

not conserved

5674

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000023096

1960

Fcatus

not conserved

ENSFCAG00000000673

4959

Mmusculus

not conserved

ENSMUSG00000061462

5191

Ggallus

all identical

ENSGALG00000004754

4968

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000043309

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

26037 / 26037

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

8679 / 8679

position of stopcodon in wt / mu cDNA

26111 / 26111

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

75 / 75

chromosome

strand

last intron/exon boundary

25934

theoretical NMD boundary in CDS

25809

length of CDS

26037

coding sequence (CDS) position

17021

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

17095

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

113597

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

228509427

original gDNA sequence snippet

TCTGCTGATCACTGGCCTGGACCGTGCTGATGCTGGCTGCT

altered gDNA sequence snippet

TCTGCTGATCACTGGCCTGGGCCGTGCTGATGCTGGCTGCT

original cDNA sequence snippet

TCTGCTGATCACTGGCCTGGACCGTGCTGATGCTGGCTGCT

altered cDNA sequence snippet

TCTGCTGATCACTGGCCTGGGCCGTGCTGATGCTGGCTGCT

wildtype AA sequence

MDQPQFSGAP RFLTRPKAFV VSVGKDATLS CQIVGNPTPQ VSWEKDQQPV AAGARFRLAQ
DGDLYRLTIL DLALGDSGQY VCRARNAIGE AFAAVGLQVD AEAACAEQAP HFLLRPTSIR
VREGSEATFR CRVGGSPRPA VSWSKDGRRL GEPDGPRVRV EELGEASALR IRAARPRDGG
TYEVRAENPL GAASAAAALV VDSDAADTAS RPGTSTAALL AHLQRRREAM RAEGAPASPP
STGTRTCTVT EGKHARLSCY VTGEPKPETV WKKDGQLVTE GRRHVVYEDA QENFVLKILF
CKQSDRGLYT CTASNLVGQT YSSVLVVVRE PAVPFKKRLQ DLEVREKESA TFLCEVPQPS
TEAAWFKEET RLWASAKYGI EEEGTERRLT VRNVSADDDA VYICETPEGS RTVAELAVQG
NLLRKLPRKT AVRVGDTAMF CVELAVPVGP VHWLRNQEEV VAGGRVAISA EGTRHTLTIS
QCCLEDVGQV AFMAGDCQTS TQFCVSAPRK PPLQPPVDPV VKARMESSVI LSWSPPPHGE
RPVTIDGYLV EKKKLGTYTW IRCHEAEWVA TPELTVADVA EEGNFQFRVS ALNSFGQSPY
LEFPGTVHLA PKLAVRTPLK AVQAVEGGEV TFSVDLTVAS AGEWFLDGQA LKASSVYEIH
CDRTRHTLTI REVPASLHGA QLKFVANGIE SSIRMEVRAA PGLTANKPPA AAAREVLARL
HEEAQLLAEL SDQAAAVTWL KDGRTLSPGP KYEVQASAGR RVLLVRDVAR DDAGLYECVS
RGGRIAYQLS VQGLARFLHK DMAGSCVDAV AGGPAQFECE TSEAHVHVHW YKDGMELGHS
GERFLQEDVG TRHRLVAATV TRQDEGTYSC RVGEDSVDFR LRVSEPKVVF AKEQLARRKL
QAEAGASATL SCEVAQAQTE VTWYKDGKKL SSSSKVCMEA TGCTRRLVVQ QAGQADAGEY
SCEAGGQRLS FHLDVKEPKV VFAKDQVAHS EVQAEAGASA TLSCEVAQAQ TEVMWYKDGK
KLSSSLKVHV EAKGCRRRLV VQQAGKTDAG DYSCEARGQR VSFRLHITEP KMMFAKEQSV
HNEVQAEAGA SAMLSCEVAQ AQTEVTWYKD GKKLSSSSKV GMEVKGCTRR LVLPQAGKAD
AGEYSCEAGG QRVSFHLHIT EPKGVFAKEQ SVHNEVQAEA GTTAMLSCEV AQPQTEVTWY
KDGKKLSSSS KVRMEVKGCT RRLVVQQVGK ADAGEYSCEA GGQRVSFQLH ITEPKAVFAK
EQLVHNEVRT EAGASATLSC EVAQAQTEVT WYKDGKKLSS SSKVRIEAAG CMRQLVVQQA
GQADAGEYTC EAGGQRLSFH LDVSEPKAVF AKEQLAHRKV QAEAGAIATL SCEVAQAQTE
VTWYKDGKKL SSSSKVRMEA VGCTRRLVVQ QACQADTGEY SCEAGGQRLS FSLDVAEPKV
VFAKEQPVHR EVQAQAGAST TLSCEVAQAQ TEVMWYKDGK KLSFSSKVRM EAVGCTRRLV
VQQAGQAVAG EYSCEAGSQR LSFHLHVAEP KAVFAKEQPA HREVQAEAGA SATLSCEVAQ
AQTEVTWYKD GKKLSSSLKV HVEAAGCTRR LVVQQAGQAD TGEYSCEAGG QQLSFRLQVA
EPKAVFAKEQ PASREVQAEA GTSATLSCEV AQAQTEVTWY KDGKKLSSSS KVRMEAVGCT
RRLVVQEAGQ ADAGEYSCKA GDQRLSFHLH VAEPKVVFAK EQPAHREVQA EAGASATLSC
EVAQAQTEVT WYKDGKKLSS SSKVRVEAVG CTRRLVVQQA GQAEAGEYSC EAGGQQLSFR
LQVAEPKVVF AKEQPACREV QAEAGASATL SCEVAQGQME VTWYKDGKKL SSSSKVHMEA
SGYTRRLVVQ QAGQADAGEY SCEAGGQRLS FRLHVAELEP QISERPCRRE PLVVKEHEDI
ILTATLATPS AATVTWLKDG VEIRRSKRHE TASQGDTHTL TVHGAQVLDS AIYSCRVGAE
GQDFPVQVEE VAAKFCRLLE PVCGELGGTV TLACELSPAC AEVVWRCGNT QLRVGKRFQM
VAEGPVRSLT VLGLRAEDAG EYVCESRDDH TSAQLTVSVP RVVKFMSGLS TVVAEEGGEA
TFQCVVSPSD VAVVWFRDGA LLQPSEKFAI SQSGASHSLT ISDLVLEDAG QITVEAEGAS
SSAALRVREA PVLFKKKLEP QTVEERSSVT LEVELTRPWP ELRWTRNATA LAPGKNVEIH
AEGARHRLVL HNVGFADRGF FGCETPDDKT QAKLTVEMRQ VRLVRGLQAV EAREQGTATM
EVQLSHADVD GSWTRDGLRF QQGPTCHLAV RGPMHTLTLS GLRPEDSGLM VFKAEGVHTS
ARLVVTELPV SFSRPLQDVV TTEKEKVTLE CELSRPNVDV RWLKDGVELR AGKTMAIAAQ
GACRSLTIYR CEFADQGVYV CDAHDAQSSA SVKVQGRTYT LIYRRVLAED AGEIQFVAEN
AESRAQLRVK ELPVTLVRPL RDKIAMEKHR GVLECQVSRA SAQVRWFKGS QELQPGPKYE
LVSDGLYRKL IISDVHAEDE DTYTCDAGDV KTSAQFFVEE QSITIVRGLQ DVTVMEPAPA
WFECETSIPS VRPPKWLLGK TVLQAGGNVG LEQEGTVHRL MLRRTCSTMT GPVHFTVGKS
RSSARLVVSD IPVVLTRPLE PKTGRELQSV VLSCDFRPAP KAVQWYKDDT PLSPSEKFKM
SLEGQMAELR ILRLMPADAG VYRCQAGSAH SSTEVTVEAR EVTVTGPLQD AEATEEGWAS
FSCELSHEDE EVEWSLNGMP LYNDSFHEIS HKGRRHTLVL KSIQRADAGI VRASSLKVST
SARLEVRVKP VVFLKALDDL SAEERGTLAL QCEVSDPEAH VVWRKDGVQL GPSDKYDFLH
TAGTRGLVVH DVSPEDAGLY TCHVGSEETR ARVRVHDLHV GITKRLKTME VLEGESCSFE
CVLSHESASD PAMWTVGGKT VGSSSRFQAT RQGRKYILVV REAAPSDAGE VVFSVRGLTS
KASLIVRERP AAIIKPLEDQ WVAPGEDVEL RCELSRAGTP VHWLKDRKAI RKSQKYDVVC
EGTMAMLVIR GASLKDAGEY TCEVEASKST ASLHVEEKAN CFTEELTNLQ VEEKGTAVFT
CKTEHPAATV TWRKGLLELR ASGKHQPSQE GLTLRLTISA LEKADSDTYT CDIGQAQSRA
QLLVQGRRVH IIEDLEDVDV QEGSSATFRC RISPANYEPV HWFLDKTPLH ANELNEIDAQ
PGGYHVLTLR QLALKDSGTI YFEAGDQRAS AALRVTEKPS VFSRELTDAT ITEGEDLTLV
CETSTCDIPV CWTKDGKTLR GSARCQLSHE GHRAQLLITG ATLQDSGRYK CEAGGACSSS
IVRVHARPVR FQEALKDLEV LEGGAATLRC VLSSVAAPVK WCYGNNVLRP GDKYSLRQEG
AMLELVVRNL RPQDSGRYSC SFGDQTTSAT LTVTALPAQF IGKLRNKEAT EGATATLRCE
LSKAAPVEWR KGSETLRDGD RYCLRQDGAM CELQIRGLAM VDAAEYSCVC GEERTSASLT
IRPMPAHFIG RLRHQESIEG ATATLRCELS KAAPVEWRKG RESLRDGDRH SLRQDGAVCE
LQICGLAVAD AGEYSCVCGE ERTSATLTVK ALPAKFTEGL RNEEAVEGAT AMLWCELSKV
APVEWRKGPE NLRDGDRYIL RQEGTRCELQ ICGLAMADAG EYLCVCGQER TSATLTIRAL
PARFIEDVKN QEAREGATAV LQCELNSAAP VEWRKGSETL RDGDRYSLRQ DGTKCELQIR
GLAMADTGEY SCVCGQERTS AMLTVRALPI KFTEGLRNEE ATEGATAVLR CELSKMAPVE
WWKGHETLRD GDRHSLRQDG ARCELQIRGL VAEDAGEYLC MCGKERTSAM LTVRAMPSKF
IEGLRNEEAT EGDTATLWCE LSKAAPVEWR KGHETLRDGD RHSLRQDGSR CELQIRGLAV
VDAGEYSCVC GQERTSATLT VRALPARFIE DVKNQEAREG ATAVLQCELS KAAPVEWRKG
SETLRGGDRY SLRQDGTRCE LQIHGLSVAD TGEYSCVCGQ ERTSATLTVR ALPARFTQDL
KTKEASEGAT ATLQCELSKV APVEWKKGPE TLRDGGRYSL KQDGTRCELQ IHDLSVADAG
EYSCMCGQER TSATLTVRAL PARFTEGLRN EEAMEGATAT LQCELSKAAP VEWRKGLEAL
RDGDKYSLRQ DGAVCELQIH GLAMADNGVY SCVCGQERTS ATLTVRALPA RFIEDMRNQK
ATEGATVTLQ CKLRKAAPVE WRKGPNTLKD GDRYSLKQDG TSCELQIRGL VIADAGEYSC
ICEQERTSAT LTVRALPARF IEDVRNHEAT EGATAVLQCE LSKAAPVEWR KGSETLRDGD
RYSLRQDGTR CELQIRGLAV EDTGEYLCVC GQERTSATLT VRALPARFID NMTNQEAREG
ATATLHCELS KVAPVEWRKG PETLRDGDRH SLRQDGTRCE LQIRGLSVAD AGEYSCVCGQ
ERTSATLTIR ALPAKFTKGL RNEEATEGAT AMLQCELSKV APVEWRKGPE TLRDGDRYNL
RQDGTRCELQ IHGLSVADTG EYSCVCGQEK TSATLTVKAP QPVFREPLQS LQAEEGSTAT
LQCELSEPTA TVVWSKGGLQ LQANGRREPR LQGCTAELVL QDLQREDTGE YTCTCGSQAT
SATLTVTAAP VRFLRELQHQ EVDEGGTAHL CCELSRAGAS VEWRKGSLQL FPCAKYQMVQ
DGAAAELLVR GVEQEDAGDY TCDTGHTQSM ASLSVRVPRP KFKTRLQSLE QETGDIARLC
CQLSDAESGA VVQWLKEGVE LHAGPKYEMR SQGATRELLI HQLEAKDTGE YACVTGGQKT
AASLRVTEPE VTIVRGLVDA EVTADEDVEF SCEVSRAGAT GVQWCLQGLP LQSNEVTEVA
VRDGRIHTLR LKGVTPEDAG TVSFHLGNHA SSAQLTVRAP EVTILEPLQD VQLSEGQDAS
FQCRLSRASG QEARWALGGV PLQANEMNDI TVEQGTLHLL TLHKVTLEDA GTVSFHVGTC
SSEAQLKVTA KNTVVRGLEN VEALEGGEAL FECQLSQPEV AAHTWLLDDE PVHTSENAEV
VFFENGLRHL LLLKNLRPQD SCRVTFLAGD MVTSAFLTVR GWRLEILEPL KNAAVRAGAQ
ACFTCTLSEA VPVGEASWYI NGAAVQPDDS DWTVTADGSH HALLLRSAQP HHAGEVTFAC
RDAVASARLT VLGLPDPPED AEVVARSSHT VTLSWAAPMS DGGGGLCGYR VEVKEGATGQ
WRLCHELVPG PECVVDGLAP GETYRFRVAA VGPVGAGEPV HLPQTVRLAE PPKPVPPQPS
APESRQVAAG EDVSLELEVV AEAGEVIWHK GMERIQPGGR FEVVSQGRQQ MLVIKGFTAE
DQGEYHCGLA QGSICPAAAT FQVALSPASV DEAPQPSLPP EAAQEGDLHL LWEALARKRR
MSREPTLDSI SELPEEDGRS QRLPQEAEEV APDLSEGYST ADELARTGDA DLSHTSSDDE
SRAGTPSLVT YLKKAGRPGT SPLASKVGAP AAPSVKPQQQ QEPLAAVRPP LGDLSTKDLG
DPSMDKAAVK IQAAFKGYKV RKEMKQQEGP MFSHTFGDTE AQVGDALRLE CVVASKADVR
ARWLKDGVEL TDGRHHHIDQ LGDGTCSLLI TGLDRADAGC YTCQVSNKFG QVTHSACVVV
SGSESEAESS SGGELDDAFR RAARRLHRLF RTKSPAEVSD EELFLSADEG PAEPEEPADW
QTYREDEHFI CIRFEALTEA RQAVTRFQEM FATLGIGVEI KLVEQGPRRV EMCISKETPA
PVVPPEPLPS LLTSDAAPVF LTELQNQEVQ DGYPVSFDCV VTGQPMPSVR WFKDGKLLEE
DDHYMINEDQ QGGHQLIITA VVPADMGVYR CLAENSMGVS STKAELRVDL TSTDYDTAAD
ATESSSYFSA QGYLSSREQE GTESTTDEGQ LPQVVEELRD LQVAPGTRLA KFQLKVKGYP
APRLYWFKDG QPLTASAHIR MTDKKILHTL EIISVTREDS GQYAAYISNA MGAAYSSARL
LVRGPDEPEE KPASDVHEQL VPPRMLERFT PKKVKKGSSI TFSVKVEGRP VPTVHWLREE
AERGVLWIGP DTPGYTVASS AQQHSLVLLD VGRQHQGTYT CIASNAAGQA LCSASLHVSG
LPKVEEQEKV KEALISTFLQ GTTQAISAQG LETASFADLG GQRKEEPLAA KEALGHLSLA
EVGTEEFLQK LTSQITEMVS AKITQAKLQV PGGDSDEDSK TPSASPRHGR SRPSSSIQES
SSESEDGDAR GEIFDIYVVT ADYLPLGAEQ DAITLREGQY VEVLDAAHPL RWLVRTKPTK
SSPSRQGWVS PAYLDRRLKL SPEWGAAEAP EFPGEAVSED EYKARLSSVI QELLSSEQAF
VEELQFLQSH HLQHLERCPH VPIAVAGQKA VIFRNVRDIG RFHSSFLQEL QQCDTDDDVA
MCFIKNQAAF EQYLEFLVGR VQAESVVVST AIQEFYKKYA EEALLAGDPS QPPPPPLQHY
LEQPVERVQR YQALLKELIR NKARNRQNCA LLEQAYAVVS ALPQRAENKL HVSLMENYPG
TLQALGEPIR QGHFIVWEGA PGARMPWKGH NRHVFLFRNH LVICKPRRDS RTDTVSYVFR
NMMKLSSIDL NDQVEGDDRA FEVWQEREDS VRKYLLQART AIIKSSWVKE ICGIQQRLAL
PVWRPPDFEE ELADCTAELG ETVKLACRVT GTPKPVISWY KDGKAVQVDP HHILIEDPDG
SCALILDSLT GVDSGQYMCF AASAAGNCST LGKILVQVPP RFVNKVRASP FVEGEDAQFT
CTIEGAPYPQ IRWYKDGALL TTGNKFQTLS EPRSGLLVLV IRAASKEDLG LYECELVNRL
GSARASAELR IQSPMLQAQE QCHREQLVAA VEDTTLERAD QEVTSVLKRL LGPKAPGPST
GDLTGPGPCP RGAPALQETG SQPPVTGTSE APAVPPRVPQ PLLHEGPEQE PEAIARAQEW
TVPIRMEGAA WPGAGTGELL WDVHSHVVRE TTQRTYTYQA IDTHTARPPS MQVTIEDVQA
QTGGTAQFEA IIEGDPQPSV TWYKDSVQLV DSTRLSQQQE GTTYSLVLRH VASKDAGVYT
CLAQNTGGQV LCKAELLVLG GDNEPDSEKQ SHRRKLHSFY EVKEEIGRGV FGFVKRVQHK
GNKILCAAKF IPLRSRTRAQ AYRERDILAA LSHPLVTGLL DQFETRKTLI LILELCSSEE
LLDRLYRKGV VTEAEVKVYI QQLVEGLHYL HSHGVLHLDI KPSNILMVHP AREDIKICDF
GFAQNITPAE LQFSQYGSPE FVSPEIIQQN PVSEASDIWA MGVISYLSLT CSSPFAGESD
RATLLNVLEG RVSWSSPMAA HLSEDAKDFI KATLQRAPQA RPSAAQCLSH PWFLKSMPAE
EAHFINTKQL KFLLARSRWQ RSLMSYKSIL VMRSIPELLR GPPDSPSLGV ARHLCRDTGG
SSSSSSSSDN ELAPFARAKS LPPSPVTHSP LLHPRGFLRP SASLPEEAEA SERSTEAPAP
PASPEGAGPP AAQGCVPRHS VIRSLFYHQA GESPEHGALA PGSRRHPARR RHLLKGGYIA
GALPGLREPL MEHRVLEEEA AREEQATLLA KAPSFETALR LPASGTHLAP GHSHSLEHDS
PSTPRPSSEA CGEAQRLPSA PSGGAPIRDM GHPQGSKQLP STGGHPGTAQ PERPSPDSPW
GQPAPFCHPK QGSAPQEGCS PHPAVAPCPP GSFPPGSCKE APLVPSSPFL GQPQAPPAPA
KASPPLDSKM GPGDISLPGR PKPGPCSSPG SASQASSSQV SSLRVGSSQV GTEPGPSLDA
EGWTQEAEDL SDSTPTLQRP QEQATMRKFS LGGRGGYAGV AGYGTFAFGG DAGGMLGQGP
MWARIAWAVS QSEEEEQEEA RAESQSEEQQ EARAESPLPQ VSARPVPEVG RAPTRSSPEP
TPWEDIGQVS LVQIRDLSGD AEAADTISLD ISEVDPAYLN LSDLYDIKYL PFEFMIFRKV
PKSAQPEPPS PMAEEELAEF PEPTWPWPGE LGPHAGLEIT EESEDVDALL AEAAVGRKRK
WSSPSRSLFH FPGRHLPLDE PAELGLRERV KASVEHISRI LKGRPEGLEK EGPPRKKPGL
ASFRLSGLKS WDRAPTFLRE LSDETVVLGQ SVTLACQVSA QPAAQATWSK DGAPLESSSR
VLISATLKNF QLLTILVVVA EDLGVYTCSV SNALGTVTTT GVLRKAERPS SSPCPDIGEV
YADGVLLVWK PVESYGPVTY IVQCSLEGGS WTTLASDIFD CCYLTSKLSR GGTYTFRTAC
VSKAGMGPYS SPSEQVLLGG PSHLASEEES QGRSAQPLPS TKTFAFQTQI QRGRFSVVRQ
CWEKASGRAL AAKIIPYHPK DKTAVLREYE ALKGLRHPHL AQLHAAYLSP RHLVLILELC
SGPELLPCLA ERASYSESEV KDYLWQMLSA TQYLHNQHIL HLDLRSENMI ITEYNLLKVV
DLGNAQSLSQ EKVLPSDKFK DYLETMELLE GQGAVPQTDI WAIGVTAFIM LSAEYPVSSE
GARDLQRGLR KGLVRLSRCY AGLSGGAVAF LRSTLCAQPW GRPCASSCLQ CPWLTEEGPA
CSRPAPVTFP TARLRVFVRN REKRRALLYK RHNLAQVR*

mutated AA sequence

MDQPQFSGAP RFLTRPKAFV VSVGKDATLS CQIVGNPTPQ VSWEKDQQPV AAGARFRLAQ
DGDLYRLTIL DLALGDSGQY VCRARNAIGE AFAAVGLQVD AEAACAEQAP HFLLRPTSIR
VREGSEATFR CRVGGSPRPA VSWSKDGRRL GEPDGPRVRV EELGEASALR IRAARPRDGG
TYEVRAENPL GAASAAAALV VDSDAADTAS RPGTSTAALL AHLQRRREAM RAEGAPASPP
STGTRTCTVT EGKHARLSCY VTGEPKPETV WKKDGQLVTE GRRHVVYEDA QENFVLKILF
CKQSDRGLYT CTASNLVGQT YSSVLVVVRE PAVPFKKRLQ DLEVREKESA TFLCEVPQPS
TEAAWFKEET RLWASAKYGI EEEGTERRLT VRNVSADDDA VYICETPEGS RTVAELAVQG
NLLRKLPRKT AVRVGDTAMF CVELAVPVGP VHWLRNQEEV VAGGRVAISA EGTRHTLTIS
QCCLEDVGQV AFMAGDCQTS TQFCVSAPRK PPLQPPVDPV VKARMESSVI LSWSPPPHGE
RPVTIDGYLV EKKKLGTYTW IRCHEAEWVA TPELTVADVA EEGNFQFRVS ALNSFGQSPY
LEFPGTVHLA PKLAVRTPLK AVQAVEGGEV TFSVDLTVAS AGEWFLDGQA LKASSVYEIH
CDRTRHTLTI REVPASLHGA QLKFVANGIE SSIRMEVRAA PGLTANKPPA AAAREVLARL
HEEAQLLAEL SDQAAAVTWL KDGRTLSPGP KYEVQASAGR RVLLVRDVAR DDAGLYECVS
RGGRIAYQLS VQGLARFLHK DMAGSCVDAV AGGPAQFECE TSEAHVHVHW YKDGMELGHS
GERFLQEDVG TRHRLVAATV TRQDEGTYSC RVGEDSVDFR LRVSEPKVVF AKEQLARRKL
QAEAGASATL SCEVAQAQTE VTWYKDGKKL SSSSKVCMEA TGCTRRLVVQ QAGQADAGEY
SCEAGGQRLS FHLDVKEPKV VFAKDQVAHS EVQAEAGASA TLSCEVAQAQ TEVMWYKDGK
KLSSSLKVHV EAKGCRRRLV VQQAGKTDAG DYSCEARGQR VSFRLHITEP KMMFAKEQSV
HNEVQAEAGA SAMLSCEVAQ AQTEVTWYKD GKKLSSSSKV GMEVKGCTRR LVLPQAGKAD
AGEYSCEAGG QRVSFHLHIT EPKGVFAKEQ SVHNEVQAEA GTTAMLSCEV AQPQTEVTWY
KDGKKLSSSS KVRMEVKGCT RRLVVQQVGK ADAGEYSCEA GGQRVSFQLH ITEPKAVFAK
EQLVHNEVRT EAGASATLSC EVAQAQTEVT WYKDGKKLSS SSKVRIEAAG CMRQLVVQQA
GQADAGEYTC EAGGQRLSFH LDVSEPKAVF AKEQLAHRKV QAEAGAIATL SCEVAQAQTE
VTWYKDGKKL SSSSKVRMEA VGCTRRLVVQ QACQADTGEY SCEAGGQRLS FSLDVAEPKV
VFAKEQPVHR EVQAQAGAST TLSCEVAQAQ TEVMWYKDGK KLSFSSKVRM EAVGCTRRLV
VQQAGQAVAG EYSCEAGSQR LSFHLHVAEP KAVFAKEQPA HREVQAEAGA SATLSCEVAQ
AQTEVTWYKD GKKLSSSLKV HVEAAGCTRR LVVQQAGQAD TGEYSCEAGG QQLSFRLQVA
EPKAVFAKEQ PASREVQAEA GTSATLSCEV AQAQTEVTWY KDGKKLSSSS KVRMEAVGCT
RRLVVQEAGQ ADAGEYSCKA GDQRLSFHLH VAEPKVVFAK EQPAHREVQA EAGASATLSC
EVAQAQTEVT WYKDGKKLSS SSKVRVEAVG CTRRLVVQQA GQAEAGEYSC EAGGQQLSFR
LQVAEPKVVF AKEQPACREV QAEAGASATL SCEVAQGQME VTWYKDGKKL SSSSKVHMEA
SGYTRRLVVQ QAGQADAGEY SCEAGGQRLS FRLHVAELEP QISERPCRRE PLVVKEHEDI
ILTATLATPS AATVTWLKDG VEIRRSKRHE TASQGDTHTL TVHGAQVLDS AIYSCRVGAE
GQDFPVQVEE VAAKFCRLLE PVCGELGGTV TLACELSPAC AEVVWRCGNT QLRVGKRFQM
VAEGPVRSLT VLGLRAEDAG EYVCESRDDH TSAQLTVSVP RVVKFMSGLS TVVAEEGGEA
TFQCVVSPSD VAVVWFRDGA LLQPSEKFAI SQSGASHSLT ISDLVLEDAG QITVEAEGAS
SSAALRVREA PVLFKKKLEP QTVEERSSVT LEVELTRPWP ELRWTRNATA LAPGKNVEIH
AEGARHRLVL HNVGFADRGF FGCETPDDKT QAKLTVEMRQ VRLVRGLQAV EAREQGTATM
EVQLSHADVD GSWTRDGLRF QQGPTCHLAV RGPMHTLTLS GLRPEDSGLM VFKAEGVHTS
ARLVVTELPV SFSRPLQDVV TTEKEKVTLE CELSRPNVDV RWLKDGVELR AGKTMAIAAQ
GACRSLTIYR CEFADQGVYV CDAHDAQSSA SVKVQGRTYT LIYRRVLAED AGEIQFVAEN
AESRAQLRVK ELPVTLVRPL RDKIAMEKHR GVLECQVSRA SAQVRWFKGS QELQPGPKYE
LVSDGLYRKL IISDVHAEDE DTYTCDAGDV KTSAQFFVEE QSITIVRGLQ DVTVMEPAPA
WFECETSIPS VRPPKWLLGK TVLQAGGNVG LEQEGTVHRL MLRRTCSTMT GPVHFTVGKS
RSSARLVVSD IPVVLTRPLE PKTGRELQSV VLSCDFRPAP KAVQWYKDDT PLSPSEKFKM
SLEGQMAELR ILRLMPADAG VYRCQAGSAH SSTEVTVEAR EVTVTGPLQD AEATEEGWAS
FSCELSHEDE EVEWSLNGMP LYNDSFHEIS HKGRRHTLVL KSIQRADAGI VRASSLKVST
SARLEVRVKP VVFLKALDDL SAEERGTLAL QCEVSDPEAH VVWRKDGVQL GPSDKYDFLH
TAGTRGLVVH DVSPEDAGLY TCHVGSEETR ARVRVHDLHV GITKRLKTME VLEGESCSFE
CVLSHESASD PAMWTVGGKT VGSSSRFQAT RQGRKYILVV REAAPSDAGE VVFSVRGLTS
KASLIVRERP AAIIKPLEDQ WVAPGEDVEL RCELSRAGTP VHWLKDRKAI RKSQKYDVVC
EGTMAMLVIR GASLKDAGEY TCEVEASKST ASLHVEEKAN CFTEELTNLQ VEEKGTAVFT
CKTEHPAATV TWRKGLLELR ASGKHQPSQE GLTLRLTISA LEKADSDTYT CDIGQAQSRA
QLLVQGRRVH IIEDLEDVDV QEGSSATFRC RISPANYEPV HWFLDKTPLH ANELNEIDAQ
PGGYHVLTLR QLALKDSGTI YFEAGDQRAS AALRVTEKPS VFSRELTDAT ITEGEDLTLV
CETSTCDIPV CWTKDGKTLR GSARCQLSHE GHRAQLLITG ATLQDSGRYK CEAGGACSSS
IVRVHARPVR FQEALKDLEV LEGGAATLRC VLSSVAAPVK WCYGNNVLRP GDKYSLRQEG
AMLELVVRNL RPQDSGRYSC SFGDQTTSAT LTVTALPAQF IGKLRNKEAT EGATATLRCE
LSKAAPVEWR KGSETLRDGD RYCLRQDGAM CELQIRGLAM VDAAEYSCVC GEERTSASLT
IRPMPAHFIG RLRHQESIEG ATATLRCELS KAAPVEWRKG RESLRDGDRH SLRQDGAVCE
LQICGLAVAD AGEYSCVCGE ERTSATLTVK ALPAKFTEGL RNEEAVEGAT AMLWCELSKV
APVEWRKGPE NLRDGDRYIL RQEGTRCELQ ICGLAMADAG EYLCVCGQER TSATLTIRAL
PARFIEDVKN QEAREGATAV LQCELNSAAP VEWRKGSETL RDGDRYSLRQ DGTKCELQIR
GLAMADTGEY SCVCGQERTS AMLTVRALPI KFTEGLRNEE ATEGATAVLR CELSKMAPVE
WWKGHETLRD GDRHSLRQDG ARCELQIRGL VAEDAGEYLC MCGKERTSAM LTVRAMPSKF
IEGLRNEEAT EGDTATLWCE LSKAAPVEWR KGHETLRDGD RHSLRQDGSR CELQIRGLAV
VDAGEYSCVC GQERTSATLT VRALPARFIE DVKNQEAREG ATAVLQCELS KAAPVEWRKG
SETLRGGDRY SLRQDGTRCE LQIHGLSVAD TGEYSCVCGQ ERTSATLTVR ALPARFTQDL
KTKEASEGAT ATLQCELSKV APVEWKKGPE TLRDGGRYSL KQDGTRCELQ IHDLSVADAG
EYSCMCGQER TSATLTVRAL PARFTEGLRN EEAMEGATAT LQCELSKAAP VEWRKGLEAL
RDGDKYSLRQ DGAVCELQIH GLAMADNGVY SCVCGQERTS ATLTVRALPA RFIEDMRNQK
ATEGATVTLQ CKLRKAAPVE WRKGPNTLKD GDRYSLKQDG TSCELQIRGL VIADAGEYSC
ICEQERTSAT LTVRALPARF IEDVRNHEAT EGATAVLQCE LSKAAPVEWR KGSETLRDGD
RYSLRQDGTR CELQIRGLAV EDTGEYLCVC GQERTSATLT VRALPARFID NMTNQEAREG
ATATLHCELS KVAPVEWRKG PETLRDGDRH SLRQDGTRCE LQIRGLSVAD AGEYSCVCGQ
ERTSATLTIR ALPAKFTKGL RNEEATEGAT AMLQCELSKV APVEWRKGPE TLRDGDRYNL
RQDGTRCELQ IHGLSVADTG EYSCVCGQEK TSATLTVKAP QPVFREPLQS LQAEEGSTAT
LQCELSEPTA TVVWSKGGLQ LQANGRREPR LQGCTAELVL QDLQREDTGE YTCTCGSQAT
SATLTVTAAP VRFLRELQHQ EVDEGGTAHL CCELSRAGAS VEWRKGSLQL FPCAKYQMVQ
DGAAAELLVR GVEQEDAGDY TCDTGHTQSM ASLSVRVPRP KFKTRLQSLE QETGDIARLC
CQLSDAESGA VVQWLKEGVE LHAGPKYEMR SQGATRELLI HQLEAKDTGE YACVTGGQKT
AASLRVTEPE VTIVRGLVDA EVTADEDVEF SCEVSRAGAT GVQWCLQGLP LQSNEVTEVA
VRDGRIHTLR LKGVTPEDAG TVSFHLGNHA SSAQLTVRAP EVTILEPLQD VQLSEGQDAS
FQCRLSRASG QEARWALGGV PLQANEMNDI TVEQGTLHLL TLHKVTLEDA GTVSFHVGTC
SSEAQLKVTA KNTVVRGLEN VEALEGGEAL FECQLSQPEV AAHTWLLDDE PVHTSENAEV
VFFENGLRHL LLLKNLRPQD SCRVTFLAGD MVTSAFLTVR GWRLEILEPL KNAAVRAGAQ
ACFTCTLSEA VPVGEASWYI NGAAVQPDDS DWTVTADGSH HALLLRSAQP HHAGEVTFAC
RDAVASARLT VLGLPDPPED AEVVARSSHT VTLSWAAPMS DGGGGLCGYR VEVKEGATGQ
WRLCHELVPG PECVVDGLAP GETYRFRVAA VGPVGAGEPV HLPQTVRLAE PPKPVPPQPS
APESRQVAAG EDVSLELEVV AEAGEVIWHK GMERIQPGGR FEVVSQGRQQ MLVIKGFTAE
DQGEYHCGLA QGSICPAAAT FQVALSPASV DEAPQPSLPP EAAQEGDLHL LWEALARKRR
MSREPTLDSI SELPEEDGRS QRLPQEAEEV APDLSEGYST ADELARTGDA DLSHTSSDDE
SRAGTPSLVT YLKKAGRPGT SPLASKVGAP AAPSVKPQQQ QEPLAAVRPP LGDLSTKDLG
DPSMDKAAVK IQAAFKGYKV RKEMKQQEGP MFSHTFGDTE AQVGDALRLE CVVASKADVR
ARWLKDGVEL TDGRHHHIDQ LGDGTCSLLI TGLGRADAGC YTCQVSNKFG QVTHSACVVV
SGSESEAESS SGGELDDAFR RAARRLHRLF RTKSPAEVSD EELFLSADEG PAEPEEPADW
QTYREDEHFI CIRFEALTEA RQAVTRFQEM FATLGIGVEI KLVEQGPRRV EMCISKETPA
PVVPPEPLPS LLTSDAAPVF LTELQNQEVQ DGYPVSFDCV VTGQPMPSVR WFKDGKLLEE
DDHYMINEDQ QGGHQLIITA VVPADMGVYR CLAENSMGVS STKAELRVDL TSTDYDTAAD
ATESSSYFSA QGYLSSREQE GTESTTDEGQ LPQVVEELRD LQVAPGTRLA KFQLKVKGYP
APRLYWFKDG QPLTASAHIR MTDKKILHTL EIISVTREDS GQYAAYISNA MGAAYSSARL
LVRGPDEPEE KPASDVHEQL VPPRMLERFT PKKVKKGSSI TFSVKVEGRP VPTVHWLREE
AERGVLWIGP DTPGYTVASS AQQHSLVLLD VGRQHQGTYT CIASNAAGQA LCSASLHVSG
LPKVEEQEKV KEALISTFLQ GTTQAISAQG LETASFADLG GQRKEEPLAA KEALGHLSLA
EVGTEEFLQK LTSQITEMVS AKITQAKLQV PGGDSDEDSK TPSASPRHGR SRPSSSIQES
SSESEDGDAR GEIFDIYVVT ADYLPLGAEQ DAITLREGQY VEVLDAAHPL RWLVRTKPTK
SSPSRQGWVS PAYLDRRLKL SPEWGAAEAP EFPGEAVSED EYKARLSSVI QELLSSEQAF
VEELQFLQSH HLQHLERCPH VPIAVAGQKA VIFRNVRDIG RFHSSFLQEL QQCDTDDDVA
MCFIKNQAAF EQYLEFLVGR VQAESVVVST AIQEFYKKYA EEALLAGDPS QPPPPPLQHY
LEQPVERVQR YQALLKELIR NKARNRQNCA LLEQAYAVVS ALPQRAENKL HVSLMENYPG
TLQALGEPIR QGHFIVWEGA PGARMPWKGH NRHVFLFRNH LVICKPRRDS RTDTVSYVFR
NMMKLSSIDL NDQVEGDDRA FEVWQEREDS VRKYLLQART AIIKSSWVKE ICGIQQRLAL
PVWRPPDFEE ELADCTAELG ETVKLACRVT GTPKPVISWY KDGKAVQVDP HHILIEDPDG
SCALILDSLT GVDSGQYMCF AASAAGNCST LGKILVQVPP RFVNKVRASP FVEGEDAQFT
CTIEGAPYPQ IRWYKDGALL TTGNKFQTLS EPRSGLLVLV IRAASKEDLG LYECELVNRL
GSARASAELR IQSPMLQAQE QCHREQLVAA VEDTTLERAD QEVTSVLKRL LGPKAPGPST
GDLTGPGPCP RGAPALQETG SQPPVTGTSE APAVPPRVPQ PLLHEGPEQE PEAIARAQEW
TVPIRMEGAA WPGAGTGELL WDVHSHVVRE TTQRTYTYQA IDTHTARPPS MQVTIEDVQA
QTGGTAQFEA IIEGDPQPSV TWYKDSVQLV DSTRLSQQQE GTTYSLVLRH VASKDAGVYT
CLAQNTGGQV LCKAELLVLG GDNEPDSEKQ SHRRKLHSFY EVKEEIGRGV FGFVKRVQHK
GNKILCAAKF IPLRSRTRAQ AYRERDILAA LSHPLVTGLL DQFETRKTLI LILELCSSEE
LLDRLYRKGV VTEAEVKVYI QQLVEGLHYL HSHGVLHLDI KPSNILMVHP AREDIKICDF
GFAQNITPAE LQFSQYGSPE FVSPEIIQQN PVSEASDIWA MGVISYLSLT CSSPFAGESD
RATLLNVLEG RVSWSSPMAA HLSEDAKDFI KATLQRAPQA RPSAAQCLSH PWFLKSMPAE
EAHFINTKQL KFLLARSRWQ RSLMSYKSIL VMRSIPELLR GPPDSPSLGV ARHLCRDTGG
SSSSSSSSDN ELAPFARAKS LPPSPVTHSP LLHPRGFLRP SASLPEEAEA SERSTEAPAP
PASPEGAGPP AAQGCVPRHS VIRSLFYHQA GESPEHGALA PGSRRHPARR RHLLKGGYIA
GALPGLREPL MEHRVLEEEA AREEQATLLA KAPSFETALR LPASGTHLAP GHSHSLEHDS
PSTPRPSSEA CGEAQRLPSA PSGGAPIRDM GHPQGSKQLP STGGHPGTAQ PERPSPDSPW
GQPAPFCHPK QGSAPQEGCS PHPAVAPCPP GSFPPGSCKE APLVPSSPFL GQPQAPPAPA
KASPPLDSKM GPGDISLPGR PKPGPCSSPG SASQASSSQV SSLRVGSSQV GTEPGPSLDA
EGWTQEAEDL SDSTPTLQRP QEQATMRKFS LGGRGGYAGV AGYGTFAFGG DAGGMLGQGP
MWARIAWAVS QSEEEEQEEA RAESQSEEQQ EARAESPLPQ VSARPVPEVG RAPTRSSPEP
TPWEDIGQVS LVQIRDLSGD AEAADTISLD ISEVDPAYLN LSDLYDIKYL PFEFMIFRKV
PKSAQPEPPS PMAEEELAEF PEPTWPWPGE LGPHAGLEIT EESEDVDALL AEAAVGRKRK
WSSPSRSLFH FPGRHLPLDE PAELGLRERV KASVEHISRI LKGRPEGLEK EGPPRKKPGL
ASFRLSGLKS WDRAPTFLRE LSDETVVLGQ SVTLACQVSA QPAAQATWSK DGAPLESSSR
VLISATLKNF QLLTILVVVA EDLGVYTCSV SNALGTVTTT GVLRKAERPS SSPCPDIGEV
YADGVLLVWK PVESYGPVTY IVQCSLEGGS WTTLASDIFD CCYLTSKLSR GGTYTFRTAC
VSKAGMGPYS SPSEQVLLGG PSHLASEEES QGRSAQPLPS TKTFAFQTQI QRGRFSVVRQ
CWEKASGRAL AAKIIPYHPK DKTAVLREYE ALKGLRHPHL AQLHAAYLSP RHLVLILELC
SGPELLPCLA ERASYSESEV KDYLWQMLSA TQYLHNQHIL HLDLRSENMI ITEYNLLKVV
DLGNAQSLSQ EKVLPSDKFK DYLETMELLE GQGAVPQTDI WAIGVTAFIM LSAEYPVSSE
GARDLQRGLR KGLVRLSRCY AGLSGGAVAF LRSTLCAQPW GRPCASSCLQ CPWLTEEGPA
CSRPAPVTFP TARLRVFVRN REKRRALLYK RHNLAQVR*

speed

0.70 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: 0.999998328017291 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:228509427A>GN/A show variant in all transcripts IGV

HGNC symbol

OBSCN

Ensembl transcript ID

ENST00000284548

Genbank transcript ID

NM_052843

UniProt peptide

Q5VST9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.14885A>G
cDNA.14959A>G
g.113597A>G

AA changes

D4962G Score: 94 explain score(s)

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

4962

frameshift

known variant

Reference ID: rs373610

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1226	977	2203
ExAC	28901	-25035	3866

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.599	0.96
	0.225	0.118
(flanking)	-0.135	0.019

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	113590	wt: 0.9539 / mu: 0.9699 (marginal change - not scored)	wt: CCTGCTCTCTGCTGATCACTGGCCTGGACCGTGCTGATGCT mu: CCTGCTCTCTGCTGATCACTGGCCTGGGCCGTGCTGATGCT	actg\|GCCT
Acc marginally increased	113587	wt: 0.8180 / mu: 0.8378 (marginal change - not scored)	wt: GCACCTGCTCTCTGCTGATCACTGGCCTGGACCGTGCTGAT mu: GCACCTGCTCTCTGCTGATCACTGGCCTGGGCCGTGCTGAT	atca\|CTGG

distance from splice site

383

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

4962

mutated

not conserved

4962

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000023096

1960

Fcatus

not conserved

ENSFCAG00000000673

4959

Mmusculus

not conserved

ENSMUSG00000061462

5191

Ggallus

all identical

ENSGALG00000004754

4968

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000043309

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
4898	4989	DOMAIN	Ig-like 48.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

19863 / 19863

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

6621 / 6621

position of stopcodon in wt / mu cDNA

19937 / 19937

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

75 / 75

chromosome

strand

last intron/exon boundary

18779

theoretical NMD boundary in CDS

18654

length of CDS

19863

coding sequence (CDS) position

14885

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

14959

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

113597

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

228509427

original gDNA sequence snippet

TCTGCTGATCACTGGCCTGGACCGTGCTGATGCTGGCTGCT

altered gDNA sequence snippet

TCTGCTGATCACTGGCCTGGGCCGTGCTGATGCTGGCTGCT

original cDNA sequence snippet

TCTGCTGATCACTGGCCTGGACCGTGCTGATGCTGGCTGCT

altered cDNA sequence snippet

TCTGCTGATCACTGGCCTGGGCCGTGCTGATGCTGGCTGCT

wildtype AA sequence

MDQPQFSGAP RFLTRPKAFV VSVGKDATLS CQIVGNPTPQ VSWEKDQQPV AAGARFRLAQ
DGDLYRLTIL DLALGDSGQY VCRARNAIGE AFAAVGLQVD AEAACAEQAP HFLLRPTSIR
VREGSEATFR CRVGGSPRPA VSWSKDGRRL GEPDGPRVRV EELGEASALR IRAARPRDGG
TYEVRAENPL GAASAAAALV VDSDAADTAS RPGTSTAALL AHLQRRREAM RAEGAPASPP
STGTRTCTVT EGKHARLSCY VTGEPKPETV WKKDGQLVTE GRRHVVYEDA QENFVLKILF
CKQSDRGLYT CTASNLVGQT YSSVLVVVRE PAVPFKKRLQ DLEVREKESA TFLCEVPQPS
TEAAWFKEET RLWASAKYGI EEEGTERRLT VRNVSADDDA VYICETPEGS RTVAELAVQG
NLLRKLPRKT AVRVGDTAMF CVELAVPVGP VHWLRNQEEV VAGGRVAISA EGTRHTLTIS
QCCLEDVGQV AFMAGDCQTS TQFCVSAPRK PPLQPPVDPV VKARMESSVI LSWSPPPHGE
RPVTIDGYLV EKKKLGTYTW IRCHEAEWVA TPELTVADVA EEGNFQFRVS ALNSFGQSPY
LEFPGTVHLA PKLAVRTPLK AVQAVEGGEV TFSVDLTVAS AGEWFLDGQA LKASSVYEIH
CDRTRHTLTI REVPASLHGA QLKFVANGIE SSIRMEVRAA PGLTANKPPA AAAREVLARL
HEEAQLLAEL SDQAAAVTWL KDGRTLSPGP KYEVQASAGR RVLLVRDVAR DDAGLYECVS
RGGRIAYQLS VQGLARFLHK DMAGSCVDAV AGGPAQFECE TSEAHVHVHW YKDGMELGHS
GERFLQEDVG TRHRLVAATV TRQDEGTYSC RVGEDSVDFR LRVSEPKVVF AKEQLARRKL
QAEAGASATL SCEVAQAQTE VTWYKDGKKL SSSSKVCMEA TGCTRRLVVQ QAGQADAGEY
SCEAGGQRLS FHLDVKEPKV VFAKDQVAHS EVQAEAGASA TLSCEVAQAQ TEVMWYKDGK
KLSSSLKVHV EAKGCRRRLV VQQAGKTDAG DYSCEARGQR VSFRLHITEP KMMFAKEQSV
HNEVQAEAGA SAMLSCEVAQ AQTEVTWYKD GKKLSSSSKV GMEVKGCTRR LVLPQAGKAD
AGEYSCEAGG QRVSFHLHIT EPKGVFAKEQ SVHNEVQAEA GTTAMLSCEV AQPQTEVTWY
KDGKKLSSSS KVRMEVKGCT RRLVVQQVGK ADAGEYSCEA GGQRVSFQLH ITEPKAVFAK
EQLVHNEVRT EAGASATLSC EVAQAQTEVT WYKDGKKLSS SSKVRIEAAG CMRQLVVQQA
GQADAGEYTC EAGGQRLSFH LDVSEPKAVF AKEQLAHRKV QAEAGAIATL SCEVAQAQTE
VTWYKDGKKL SSSSKVRMEA VGCTRRLVVQ QACQADTGEY SCEAGGQRLS FSLDVAEPKV
VFAKEQPVHR EVQAQAGAST TLSCEVAQAQ TEVMWYKDGK KLSFSSKVRM EAVGCTRRLV
VQQAGQAVAG EYSCEAGSQR LSFHLHVAEP KAVFAKEQPA SREVQAEAGT SATLSCEVAQ
AQTEVTWYKD GKKLSSSSKV RMEAVGCTRR LVVQEAGQAD AGEYSCKAGD QRLSFHLHVA
EPKVVFAKEQ PAHREVQAEA GASATLSCEV AQAQTEVTWY KDGKKLSSSS KVRVEAVGCT
RRLVVQQAGQ AEAGEYSCEA GGQQLSFRLQ VAELEPQISE RPCRREPLVV KEHEDIILTA
TLATPSAATV TWLKDGVEIR RSKRHETASQ GDTHTLTVHG AQVLDSAIYS CRVGAEGQDF
PVQVEEVAAK FCRLLEPVCG ELGGTVTLAC ELSPACAEVV WRCGNTQLRV GKRFQMVAEG
PVRSLTVLGL RAEDAGEYVC ESRDDHTSAQ LTVSVPRVVK FMSGLSTVVA EEGGEATFQC
VVSPSDVAVV WFRDGALLQP SEKFAISQSG ASHSLTISDL VLEDAGQITV EAEGASSSAA
LRVREAPVLF KKKLEPQTVE ERSSVTLEVE LTRPWPELRW TRNATALAPG KNVEIHAEGA
RHRLVLHNVG FADRGFFGCE TPDDKTQAKL TVEMRQVRLV RGLQAVEARE QGTATMEVQL
SHADVDGSWT RDGLRFQQGP TCHLAVRGPM HTLTLSGLRP EDSGLMVFKA EGVHTSARLV
VTELPVSFSR PLQDVVTTEK EKVTLECELS RPNVDVRWLK DGVELRAGKT MAIAAQGACR
SLTIYRCEFA DQGVYVCDAH DAQSSASVKV QGRTYTLIYR RVLAEDAGEI QFVAENAESR
AQLRVKELPV TLVRPLRDKI AMEKHRGVLE CQVSRASAQV RWFKGSQELQ PGPKYELVSD
GLYRKLIISD VHAEDEDTYT CDAGDVKTSA QFFVEEQSIT IVRGLQDVTV MEPAPAWFEC
ETSIPSVRPP KWLLGKTVLQ AGGNVGLEQE GTVHRLMLRR TCSTMTGPVH FTVGKSRSSA
RLVVSDIPVV LTRPLEPKTG RELQSVVLSC DFRPAPKAVQ WYKDDTPLSP SEKFKMSLEG
QMAELRILRL MPADAGVYRC QAGSAHSSTE VTVEAREVTV TGPLQDAEAT EEGWASFSCE
LSHEDEEVEW SLNGMPLYND SFHEISHKGR RHTLVLKSIQ RADAGIVRAS SLKVSTSARL
EVRVKPVVFL KALDDLSAEE RGTLALQCEV SDPEAHVVWR KDGVQLGPSD KYDFLHTAGT
RGLVVHDVSP EDAGLYTCHV GSEETRARVR VHDLHVGITK RLKTMEVLEG ESCSFECVLS
HESASDPAMW TVGGKTVGSS SRFQATRQGR KYILVVREAA PSDAGEVVFS VRGLTSKASL
IVRERPAAII KPLEDQWVAP GEDVELRCEL SRAGTPVHWL KDRKAIRKSQ KYDVVCEGTM
AMLVIRGASL KDAGEYTCEV EASKSTASLH VEEKANCFTE ELTNLQVEEK GTAVFTCKTE
HPAATVTWRK GLLELRASGK HQPSQEGLTL RLTISALEKA DSDTYTCDIG QAQSRAQLLV
QGRRVHIIED LEDVDVQEGS SATFRCRISP ANYEPVHWFL DKTPLHANEL NEIDAQPGGY
HVLTLRQLAL KDSGTIYFEA GDQRASAALR VTEKPSVFSR ELTDATITEG EDLTLVCETS
TCDIPVCWTK DGKTLRGSAR CQLSHEGHRA QLLITGATLQ DSGRYKCEAG GACSSSIVRV
HARPVRFQEA LKDLEVLEGG AATLRCVLSS VAAPVKWCYG NNVLRPGDKY SLRQEGAMLE
LVVRNLRPQD SGRYSCSFGD QTTSATLTVT ALPAQFIGKL RNKEATEGAT ATLRCELSKA
APVEWRKGSE TLRDGDRYCL RQDGAMCELQ IRGLAMVDAA EYSCVCGEER TSASLTIRPM
PAHFIGRLRH QESIEGATAT LRCELSKAAP VEWRKGRESL RDGDRHSLRQ DGAVCELQIC
GLAVADAGEY SCVCGEERTS ATLTVKALPA KFTEGLRNEE AVEGATAMLW CELSKVAPVE
WRKGPENLRD GDRYILRQEG TRCELQICGL AMADAGEYLC VCGQERTSAT LTIRALPARF
IEDVKNQEAR EGATAVLQCE LNSAAPVEWR KGSETLRDGD RYSLRQDGTK CELQIRGLAM
ADTGEYSCVC GQERTSAMLT VRALPIKFTE GLRNEEATEG ATAVLRCELS KMAPVEWWKG
HETLRDGDRH SLRQDGARCE LQIRGLVAED AGEYLCMCGK ERTSAMLTVR AMPSKFIEGL
RNEEATEGDT ATLWCELSKA APVEWRKGHE TLRDGDRHSL RQDGSRCELQ IRGLAVVDAG
EYSCVCGQER TSATLTVRAL PARFIEDVKN QEAREGATAV LQCELSKAAP VEWRKGSETL
RGGDRYSLRQ DGTRCELQIH GLSVADTGEY SCVCGQERTS ATLTVRAPQP VFREPLQSLQ
AEEGSTATLQ CELSEPTATV VWSKGGLQLQ ANGRREPRLQ GCTAELVLQD LQREDTGEYT
CTCGSQATSA TLTVTAAPVR FLRELQHQEV DEGGTAHLCC ELSRAGASVE WRKGSLQLFP
CAKYQMVQDG AAAELLVRGV EQEDAGDYTC DTGHTQSMAS LSVRVPRPKF KTRLQSLEQE
TGDIARLCCQ LSDAESGAVV QWLKEGVELH AGPKYEMRSQ GATRELLIHQ LEAKDTGEYA
CVTGGQKTAA SLRVTEPEVT IVRGLVDAEV TADEDVEFSC EVSRAGATGV QWCLQGLPLQ
SNEVTEVAVR DGRIHTLRLK GVTPEDAGTV SFHLGNHASS AQLTVRAPEV TILEPLQDVQ
LSEGQDASFQ CRLSRASGQE ARWALGGVPL QANEMNDITV EQGTLHLLTL HKVTLEDAGT
VSFHVGTCSS EAQLKVTAKN TVVRGLENVE ALEGGEALFE CQLSQPEVAA HTWLLDDEPV
HTSENAEVVF FENGLRHLLL LKNLRPQDSC RVTFLAGDMV TSAFLTVRGW RLEILEPLKN
AAVRAGAQAC FTCTLSEAVP VGEASWYING AAVQPDDSDW TVTADGSHHA LLLRSAQPHH
AGEVTFACRD AVASARLTVL GLPDPPEDAE VVARSSHTVT LSWAAPMSDG GGGLCGYRVE
VKEGATGQWR LCHELVPGPE CVVDGLAPGE TYRFRVAAVG PVGAGEPVHL PQTVRLAEPP
KPVPPQPSAP ESRQVAAGED VSLELEVVAE AGEVIWHKGM ERIQPGGRFE VVSQGRQQML
VIKGFTAEDQ GEYHCGLAQG SICPAAATFQ VALSPASVDE APQPSLPPEA AQEGDLHLLW
EALARKRRMS REPTLDSISE LPEEDGRSQR LPQEAEEVAP DLSEGYSTAD ELARTGDADL
SHTSSDDESR AGTPSLVTYL KKAGRPGTSP LASKVGAPAA PSVKPQQQQE PLAAVRPPLG
DLSTKDLGDP SMDKAAVKIQ AAFKGYKVRK EMKQQEGPMF SHTFGDTEAQ VGDALRLECV
VASKADVRAR WLKDGVELTD GRHHHIDQLG DGTCSLLITG LDRADAGCYT CQVSNKFGQV
THSACVVVSG SESEAESSSG GELDDAFRRA ARRLHRLFRT KSPAEVSDEE LFLSADEGPA
EPEEPADWQT YREDEHFICI RFEALTEARQ AVTRFQEMFA TLGIGVEIKL VEQGPRRVEM
CISKETPAPV VPPEPLPSLL TSDAAPVFLT ELQNQEVQDG YPVSFDCVVT GQPMPSVRWF
KDGKLLEEDD HYMINEDQQG GHQLIITAVV PADMGVYRCL AENSMGVSST KAELRVDLTS
TDYDTAADAT ESSSYFSAQG YLSSREQEGT ESTTDEGQLP QVVEELRDLQ VAPGTRLAKF
QLKVKGYPAP RLYWFKDGQP LTASAHIRMT DKKILHTLEI ISVTREDSGQ YAAYISNAMG
AAYSSARLLV RGPDEPEEKP ASDVHEQLVP PRMLERFTPK KVKKGSSITF SVKVEGRPVP
TVHWLREEAE RGVLWIGPDT PGYTVASSAQ QHSLVLLDVG RQHQGTYTCI ASNAAGQALC
SASLHVSGLP KVEEQEKVKE ALISTFLQGT TQAISAQGLE TASFADLGGQ RKEEPLAAKE
ALGHLSLAEV GTEEFLQKLT SQITEMVSAK ITQAKLQVPG GDSDEDSKTP SASPRHGRSR
PSSSIQESSS ESEDGDARGE IFDIYVVTAD YLPLGAEQDA ITLREGQYVE VLDAAHPLRW
LVRTKPTKSS PSRQGWVSPA YLDRRLKLSP EWGAAEAPEF PGEAVSEDEY KARLSSVIQE
LLSSEQAFVE ELQFLQSHHL QHLERCPHVP IAVAGQKAVI FRNVRDIGRF HSSFLQELQQ
CDTDDDVAMC FIKNQAAFEQ YLEFLVGRVQ AESVVVSTAI QEFYKKYAEE ALLAGDPSQP
PPPPLQHYLE QPVERVQRYQ ALLKELIRNK ARNRQNCALL EQAYAVVSAL PQRAENKLHV
SLMENYPGTL QALGEPIRQG HFIVWEGAPG ARMPWKGHNR HVFLFRNHLV ICKPRRDSRT
DTVSYVFRNM MKLSSIDLND QVEGDDRAFE VWQEREDSVR KYLLQARTAI IKSSWVKEIC
GIQQRLALPV WRPPDFEEEL ADCTAELGET VKLACRVTGT PKPVISWYKD GKAVQVDPHH
ILIEDPDGSC ALILDSLTGV DSGQYMCFAA SAAGNCSTLG KILVQVPPRF VNKVRASPFV
EGEDAQFTCT IEGAPYPQIR WYKDGALLTT GNKFQTLSEP RSGLLVLVIR AASKEDLGLY
ECELVNRLGS ARASAELRIQ SPMLQAQEQC HREQLVAAVE VTEQETKVPK KTVIIEETIT
TVVKSPRGQR RSPSKSPSRS PSRCSASPLR PGLLAPDLLY LPGAGQPRRP EAEPGQKPVV
PTLYVTEAEA HSPALPGLSG PQPKWVEVEE TIEVRVKKMG PQGVSPTTEV PRSSSGHLFT
LPGATPGGDP NSNNSNNKLL AQEAWAQGTA MVGVREPLVF RVDARGSVDW AASGMGSLEE
EGTMEEAGEE EGEDGDAFVT EESQDTHSLG DRDPKILTHN GRMLTLADLE DYVPGEGETF
HCGGPGPGAP DDPPCEVSVI QREIGEPTVG QPVLLSVGHA LGPRGPLGLF RPEPRGASPP
GPQVRSLEGT SFLLREAPAR PVGSAPWTQS FCTRIRRSAD SGQSSFTTEL STQTVNFGTV
GETVTLHICP DRDGDEAAQP *

mutated AA sequence

MDQPQFSGAP RFLTRPKAFV VSVGKDATLS CQIVGNPTPQ VSWEKDQQPV AAGARFRLAQ
DGDLYRLTIL DLALGDSGQY VCRARNAIGE AFAAVGLQVD AEAACAEQAP HFLLRPTSIR
VREGSEATFR CRVGGSPRPA VSWSKDGRRL GEPDGPRVRV EELGEASALR IRAARPRDGG
TYEVRAENPL GAASAAAALV VDSDAADTAS RPGTSTAALL AHLQRRREAM RAEGAPASPP
STGTRTCTVT EGKHARLSCY VTGEPKPETV WKKDGQLVTE GRRHVVYEDA QENFVLKILF
CKQSDRGLYT CTASNLVGQT YSSVLVVVRE PAVPFKKRLQ DLEVREKESA TFLCEVPQPS
TEAAWFKEET RLWASAKYGI EEEGTERRLT VRNVSADDDA VYICETPEGS RTVAELAVQG
NLLRKLPRKT AVRVGDTAMF CVELAVPVGP VHWLRNQEEV VAGGRVAISA EGTRHTLTIS
QCCLEDVGQV AFMAGDCQTS TQFCVSAPRK PPLQPPVDPV VKARMESSVI LSWSPPPHGE
RPVTIDGYLV EKKKLGTYTW IRCHEAEWVA TPELTVADVA EEGNFQFRVS ALNSFGQSPY
LEFPGTVHLA PKLAVRTPLK AVQAVEGGEV TFSVDLTVAS AGEWFLDGQA LKASSVYEIH
CDRTRHTLTI REVPASLHGA QLKFVANGIE SSIRMEVRAA PGLTANKPPA AAAREVLARL
HEEAQLLAEL SDQAAAVTWL KDGRTLSPGP KYEVQASAGR RVLLVRDVAR DDAGLYECVS
RGGRIAYQLS VQGLARFLHK DMAGSCVDAV AGGPAQFECE TSEAHVHVHW YKDGMELGHS
GERFLQEDVG TRHRLVAATV TRQDEGTYSC RVGEDSVDFR LRVSEPKVVF AKEQLARRKL
QAEAGASATL SCEVAQAQTE VTWYKDGKKL SSSSKVCMEA TGCTRRLVVQ QAGQADAGEY
SCEAGGQRLS FHLDVKEPKV VFAKDQVAHS EVQAEAGASA TLSCEVAQAQ TEVMWYKDGK
KLSSSLKVHV EAKGCRRRLV VQQAGKTDAG DYSCEARGQR VSFRLHITEP KMMFAKEQSV
HNEVQAEAGA SAMLSCEVAQ AQTEVTWYKD GKKLSSSSKV GMEVKGCTRR LVLPQAGKAD
AGEYSCEAGG QRVSFHLHIT EPKGVFAKEQ SVHNEVQAEA GTTAMLSCEV AQPQTEVTWY
KDGKKLSSSS KVRMEVKGCT RRLVVQQVGK ADAGEYSCEA GGQRVSFQLH ITEPKAVFAK
EQLVHNEVRT EAGASATLSC EVAQAQTEVT WYKDGKKLSS SSKVRIEAAG CMRQLVVQQA
GQADAGEYTC EAGGQRLSFH LDVSEPKAVF AKEQLAHRKV QAEAGAIATL SCEVAQAQTE
VTWYKDGKKL SSSSKVRMEA VGCTRRLVVQ QACQADTGEY SCEAGGQRLS FSLDVAEPKV
VFAKEQPVHR EVQAQAGAST TLSCEVAQAQ TEVMWYKDGK KLSFSSKVRM EAVGCTRRLV
VQQAGQAVAG EYSCEAGSQR LSFHLHVAEP KAVFAKEQPA SREVQAEAGT SATLSCEVAQ
AQTEVTWYKD GKKLSSSSKV RMEAVGCTRR LVVQEAGQAD AGEYSCKAGD QRLSFHLHVA
EPKVVFAKEQ PAHREVQAEA GASATLSCEV AQAQTEVTWY KDGKKLSSSS KVRVEAVGCT
RRLVVQQAGQ AEAGEYSCEA GGQQLSFRLQ VAELEPQISE RPCRREPLVV KEHEDIILTA
TLATPSAATV TWLKDGVEIR RSKRHETASQ GDTHTLTVHG AQVLDSAIYS CRVGAEGQDF
PVQVEEVAAK FCRLLEPVCG ELGGTVTLAC ELSPACAEVV WRCGNTQLRV GKRFQMVAEG
PVRSLTVLGL RAEDAGEYVC ESRDDHTSAQ LTVSVPRVVK FMSGLSTVVA EEGGEATFQC
VVSPSDVAVV WFRDGALLQP SEKFAISQSG ASHSLTISDL VLEDAGQITV EAEGASSSAA
LRVREAPVLF KKKLEPQTVE ERSSVTLEVE LTRPWPELRW TRNATALAPG KNVEIHAEGA
RHRLVLHNVG FADRGFFGCE TPDDKTQAKL TVEMRQVRLV RGLQAVEARE QGTATMEVQL
SHADVDGSWT RDGLRFQQGP TCHLAVRGPM HTLTLSGLRP EDSGLMVFKA EGVHTSARLV
VTELPVSFSR PLQDVVTTEK EKVTLECELS RPNVDVRWLK DGVELRAGKT MAIAAQGACR
SLTIYRCEFA DQGVYVCDAH DAQSSASVKV QGRTYTLIYR RVLAEDAGEI QFVAENAESR
AQLRVKELPV TLVRPLRDKI AMEKHRGVLE CQVSRASAQV RWFKGSQELQ PGPKYELVSD
GLYRKLIISD VHAEDEDTYT CDAGDVKTSA QFFVEEQSIT IVRGLQDVTV MEPAPAWFEC
ETSIPSVRPP KWLLGKTVLQ AGGNVGLEQE GTVHRLMLRR TCSTMTGPVH FTVGKSRSSA
RLVVSDIPVV LTRPLEPKTG RELQSVVLSC DFRPAPKAVQ WYKDDTPLSP SEKFKMSLEG
QMAELRILRL MPADAGVYRC QAGSAHSSTE VTVEAREVTV TGPLQDAEAT EEGWASFSCE
LSHEDEEVEW SLNGMPLYND SFHEISHKGR RHTLVLKSIQ RADAGIVRAS SLKVSTSARL
EVRVKPVVFL KALDDLSAEE RGTLALQCEV SDPEAHVVWR KDGVQLGPSD KYDFLHTAGT
RGLVVHDVSP EDAGLYTCHV GSEETRARVR VHDLHVGITK RLKTMEVLEG ESCSFECVLS
HESASDPAMW TVGGKTVGSS SRFQATRQGR KYILVVREAA PSDAGEVVFS VRGLTSKASL
IVRERPAAII KPLEDQWVAP GEDVELRCEL SRAGTPVHWL KDRKAIRKSQ KYDVVCEGTM
AMLVIRGASL KDAGEYTCEV EASKSTASLH VEEKANCFTE ELTNLQVEEK GTAVFTCKTE
HPAATVTWRK GLLELRASGK HQPSQEGLTL RLTISALEKA DSDTYTCDIG QAQSRAQLLV
QGRRVHIIED LEDVDVQEGS SATFRCRISP ANYEPVHWFL DKTPLHANEL NEIDAQPGGY
HVLTLRQLAL KDSGTIYFEA GDQRASAALR VTEKPSVFSR ELTDATITEG EDLTLVCETS
TCDIPVCWTK DGKTLRGSAR CQLSHEGHRA QLLITGATLQ DSGRYKCEAG GACSSSIVRV
HARPVRFQEA LKDLEVLEGG AATLRCVLSS VAAPVKWCYG NNVLRPGDKY SLRQEGAMLE
LVVRNLRPQD SGRYSCSFGD QTTSATLTVT ALPAQFIGKL RNKEATEGAT ATLRCELSKA
APVEWRKGSE TLRDGDRYCL RQDGAMCELQ IRGLAMVDAA EYSCVCGEER TSASLTIRPM
PAHFIGRLRH QESIEGATAT LRCELSKAAP VEWRKGRESL RDGDRHSLRQ DGAVCELQIC
GLAVADAGEY SCVCGEERTS ATLTVKALPA KFTEGLRNEE AVEGATAMLW CELSKVAPVE
WRKGPENLRD GDRYILRQEG TRCELQICGL AMADAGEYLC VCGQERTSAT LTIRALPARF
IEDVKNQEAR EGATAVLQCE LNSAAPVEWR KGSETLRDGD RYSLRQDGTK CELQIRGLAM
ADTGEYSCVC GQERTSAMLT VRALPIKFTE GLRNEEATEG ATAVLRCELS KMAPVEWWKG
HETLRDGDRH SLRQDGARCE LQIRGLVAED AGEYLCMCGK ERTSAMLTVR AMPSKFIEGL
RNEEATEGDT ATLWCELSKA APVEWRKGHE TLRDGDRHSL RQDGSRCELQ IRGLAVVDAG
EYSCVCGQER TSATLTVRAL PARFIEDVKN QEAREGATAV LQCELSKAAP VEWRKGSETL
RGGDRYSLRQ DGTRCELQIH GLSVADTGEY SCVCGQERTS ATLTVRAPQP VFREPLQSLQ
AEEGSTATLQ CELSEPTATV VWSKGGLQLQ ANGRREPRLQ GCTAELVLQD LQREDTGEYT
CTCGSQATSA TLTVTAAPVR FLRELQHQEV DEGGTAHLCC ELSRAGASVE WRKGSLQLFP
CAKYQMVQDG AAAELLVRGV EQEDAGDYTC DTGHTQSMAS LSVRVPRPKF KTRLQSLEQE
TGDIARLCCQ LSDAESGAVV QWLKEGVELH AGPKYEMRSQ GATRELLIHQ LEAKDTGEYA
CVTGGQKTAA SLRVTEPEVT IVRGLVDAEV TADEDVEFSC EVSRAGATGV QWCLQGLPLQ
SNEVTEVAVR DGRIHTLRLK GVTPEDAGTV SFHLGNHASS AQLTVRAPEV TILEPLQDVQ
LSEGQDASFQ CRLSRASGQE ARWALGGVPL QANEMNDITV EQGTLHLLTL HKVTLEDAGT
VSFHVGTCSS EAQLKVTAKN TVVRGLENVE ALEGGEALFE CQLSQPEVAA HTWLLDDEPV
HTSENAEVVF FENGLRHLLL LKNLRPQDSC RVTFLAGDMV TSAFLTVRGW RLEILEPLKN
AAVRAGAQAC FTCTLSEAVP VGEASWYING AAVQPDDSDW TVTADGSHHA LLLRSAQPHH
AGEVTFACRD AVASARLTVL GLPDPPEDAE VVARSSHTVT LSWAAPMSDG GGGLCGYRVE
VKEGATGQWR LCHELVPGPE CVVDGLAPGE TYRFRVAAVG PVGAGEPVHL PQTVRLAEPP
KPVPPQPSAP ESRQVAAGED VSLELEVVAE AGEVIWHKGM ERIQPGGRFE VVSQGRQQML
VIKGFTAEDQ GEYHCGLAQG SICPAAATFQ VALSPASVDE APQPSLPPEA AQEGDLHLLW
EALARKRRMS REPTLDSISE LPEEDGRSQR LPQEAEEVAP DLSEGYSTAD ELARTGDADL
SHTSSDDESR AGTPSLVTYL KKAGRPGTSP LASKVGAPAA PSVKPQQQQE PLAAVRPPLG
DLSTKDLGDP SMDKAAVKIQ AAFKGYKVRK EMKQQEGPMF SHTFGDTEAQ VGDALRLECV
VASKADVRAR WLKDGVELTD GRHHHIDQLG DGTCSLLITG LGRADAGCYT CQVSNKFGQV
THSACVVVSG SESEAESSSG GELDDAFRRA ARRLHRLFRT KSPAEVSDEE LFLSADEGPA
EPEEPADWQT YREDEHFICI RFEALTEARQ AVTRFQEMFA TLGIGVEIKL VEQGPRRVEM
CISKETPAPV VPPEPLPSLL TSDAAPVFLT ELQNQEVQDG YPVSFDCVVT GQPMPSVRWF
KDGKLLEEDD HYMINEDQQG GHQLIITAVV PADMGVYRCL AENSMGVSST KAELRVDLTS
TDYDTAADAT ESSSYFSAQG YLSSREQEGT ESTTDEGQLP QVVEELRDLQ VAPGTRLAKF
QLKVKGYPAP RLYWFKDGQP LTASAHIRMT DKKILHTLEI ISVTREDSGQ YAAYISNAMG
AAYSSARLLV RGPDEPEEKP ASDVHEQLVP PRMLERFTPK KVKKGSSITF SVKVEGRPVP
TVHWLREEAE RGVLWIGPDT PGYTVASSAQ QHSLVLLDVG RQHQGTYTCI ASNAAGQALC
SASLHVSGLP KVEEQEKVKE ALISTFLQGT TQAISAQGLE TASFADLGGQ RKEEPLAAKE
ALGHLSLAEV GTEEFLQKLT SQITEMVSAK ITQAKLQVPG GDSDEDSKTP SASPRHGRSR
PSSSIQESSS ESEDGDARGE IFDIYVVTAD YLPLGAEQDA ITLREGQYVE VLDAAHPLRW
LVRTKPTKSS PSRQGWVSPA YLDRRLKLSP EWGAAEAPEF PGEAVSEDEY KARLSSVIQE
LLSSEQAFVE ELQFLQSHHL QHLERCPHVP IAVAGQKAVI FRNVRDIGRF HSSFLQELQQ
CDTDDDVAMC FIKNQAAFEQ YLEFLVGRVQ AESVVVSTAI QEFYKKYAEE ALLAGDPSQP
PPPPLQHYLE QPVERVQRYQ ALLKELIRNK ARNRQNCALL EQAYAVVSAL PQRAENKLHV
SLMENYPGTL QALGEPIRQG HFIVWEGAPG ARMPWKGHNR HVFLFRNHLV ICKPRRDSRT
DTVSYVFRNM MKLSSIDLND QVEGDDRAFE VWQEREDSVR KYLLQARTAI IKSSWVKEIC
GIQQRLALPV WRPPDFEEEL ADCTAELGET VKLACRVTGT PKPVISWYKD GKAVQVDPHH
ILIEDPDGSC ALILDSLTGV DSGQYMCFAA SAAGNCSTLG KILVQVPPRF VNKVRASPFV
EGEDAQFTCT IEGAPYPQIR WYKDGALLTT GNKFQTLSEP RSGLLVLVIR AASKEDLGLY
ECELVNRLGS ARASAELRIQ SPMLQAQEQC HREQLVAAVE VTEQETKVPK KTVIIEETIT
TVVKSPRGQR RSPSKSPSRS PSRCSASPLR PGLLAPDLLY LPGAGQPRRP EAEPGQKPVV
PTLYVTEAEA HSPALPGLSG PQPKWVEVEE TIEVRVKKMG PQGVSPTTEV PRSSSGHLFT
LPGATPGGDP NSNNSNNKLL AQEAWAQGTA MVGVREPLVF RVDARGSVDW AASGMGSLEE
EGTMEEAGEE EGEDGDAFVT EESQDTHSLG DRDPKILTHN GRMLTLADLE DYVPGEGETF
HCGGPGPGAP DDPPCEVSVI QREIGEPTVG QPVLLSVGHA LGPRGPLGLF RPEPRGASPP
GPQVRSLEGT SFLLREAPAR PVGSAPWTQS FCTRIRRSAD SGQSSFTTEL STQTVNFGTV
GETVTLHICP DRDGDEAAQP *

speed

0.93 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999998328017291 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:228509427A>GN/A show variant in all transcripts IGV

HGNC symbol

OBSCN

Ensembl transcript ID

ENST00000422127

Genbank transcript ID

NM_001098623

UniProt peptide

Q5VST9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.14885A>G
cDNA.14929A>G
g.113597A>G

AA changes

D4962G Score: 94 explain score(s)

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

4962

frameshift

known variant

Reference ID: rs373610

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1226	977	2203
ExAC	28901	-25035	3866

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.599	0.96
	0.225	0.118
(flanking)	-0.135	0.019

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	113590	wt: 0.9539 / mu: 0.9699 (marginal change - not scored)	wt: CCTGCTCTCTGCTGATCACTGGCCTGGACCGTGCTGATGCT mu: CCTGCTCTCTGCTGATCACTGGCCTGGGCCGTGCTGATGCT	actg\|GCCT
Acc marginally increased	113587	wt: 0.8180 / mu: 0.8378 (marginal change - not scored)	wt: GCACCTGCTCTCTGCTGATCACTGGCCTGGACCGTGCTGAT mu: GCACCTGCTCTCTGCTGATCACTGGCCTGGGCCGTGCTGAT	atca\|CTGG

distance from splice site

383

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

4962

mutated

not conserved

4962

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000023096

1960

Fcatus

not conserved

ENSFCAG00000000673

4959

Mmusculus

not conserved

ENSMUSG00000061462

5191

Ggallus

all identical

ENSGALG00000004754

4968

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000043309

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
4898	4989	DOMAIN	Ig-like 48.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

23907 / 23907

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

7969 / 7969

position of stopcodon in wt / mu cDNA

23951 / 23951

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

45 / 45

chromosome

strand

last intron/exon boundary

23774

theoretical NMD boundary in CDS

23679

length of CDS

23907

coding sequence (CDS) position

14885

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

14929

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

113597

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

228509427

original gDNA sequence snippet

TCTGCTGATCACTGGCCTGGACCGTGCTGATGCTGGCTGCT

altered gDNA sequence snippet

TCTGCTGATCACTGGCCTGGGCCGTGCTGATGCTGGCTGCT

original cDNA sequence snippet

TCTGCTGATCACTGGCCTGGACCGTGCTGATGCTGGCTGCT

altered cDNA sequence snippet

TCTGCTGATCACTGGCCTGGGCCGTGCTGATGCTGGCTGCT

wildtype AA sequence

MDQPQFSGAP RFLTRPKAFV VSVGKDATLS CQIVGNPTPQ VSWEKDQQPV AAGARFRLAQ
DGDLYRLTIL DLALGDSGQY VCRARNAIGE AFAAVGLQVD AEAACAEQAP HFLLRPTSIR
VREGSEATFR CRVGGSPRPA VSWSKDGRRL GEPDGPRVRV EELGEASALR IRAARPRDGG
TYEVRAENPL GAASAAAALV VDSDAADTAS RPGTSTAALL AHLQRRREAM RAEGAPASPP
STGTRTCTVT EGKHARLSCY VTGEPKPETV WKKDGQLVTE GRRHVVYEDA QENFVLKILF
CKQSDRGLYT CTASNLVGQT YSSVLVVVRE PAVPFKKRLQ DLEVREKESA TFLCEVPQPS
TEAAWFKEET RLWASAKYGI EEEGTERRLT VRNVSADDDA VYICETPEGS RTVAELAVQG
NLLRKLPRKT AVRVGDTAMF CVELAVPVGP VHWLRNQEEV VAGGRVAISA EGTRHTLTIS
QCCLEDVGQV AFMAGDCQTS TQFCVSAPRK PPLQPPVDPV VKARMESSVI LSWSPPPHGE
RPVTIDGYLV EKKKLGTYTW IRCHEAEWVA TPELTVADVA EEGNFQFRVS ALNSFGQSPY
LEFPGTVHLA PKLAVRTPLK AVQAVEGGEV TFSVDLTVAS AGEWFLDGQA LKASSVYEIH
CDRTRHTLTI REVPASLHGA QLKFVANGIE SSIRMEVRAA PGLTANKPPA AAAREVLARL
HEEAQLLAEL SDQAAAVTWL KDGRTLSPGP KYEVQASAGR RVLLVRDVAR DDAGLYECVS
RGGRIAYQLS VQGLARFLHK DMAGSCVDAV AGGPAQFECE TSEAHVHVHW YKDGMELGHS
GERFLQEDVG TRHRLVAATV TRQDEGTYSC RVGEDSVDFR LRVSEPKVVF AKEQLARRKL
QAEAGASATL SCEVAQAQTE VTWYKDGKKL SSSSKVCMEA TGCTRRLVVQ QAGQADAGEY
SCEAGGQRLS FHLDVKEPKV VFAKDQVAHS EVQAEAGASA TLSCEVAQAQ TEVMWYKDGK
KLSSSLKVHV EAKGCRRRLV VQQAGKTDAG DYSCEARGQR VSFRLHITEP KMMFAKEQSV
HNEVQAEAGA SAMLSCEVAQ AQTEVTWYKD GKKLSSSSKV GMEVKGCTRR LVLPQAGKAD
AGEYSCEAGG QRVSFHLHIT EPKGVFAKEQ SVHNEVQAEA GTTAMLSCEV AQPQTEVTWY
KDGKKLSSSS KVRMEVKGCT RRLVVQQVGK ADAGEYSCEA GGQRVSFQLH ITEPKAVFAK
EQLVHNEVRT EAGASATLSC EVAQAQTEVT WYKDGKKLSS SSKVRIEAAG CMRQLVVQQA
GQADAGEYTC EAGGQRLSFH LDVSEPKAVF AKEQLAHRKV QAEAGAIATL SCEVAQAQTE
VTWYKDGKKL SSSSKVRMEA VGCTRRLVVQ QACQADTGEY SCEAGGQRLS FSLDVAEPKV
VFAKEQPVHR EVQAQAGAST TLSCEVAQAQ TEVMWYKDGK KLSFSSKVRM EAVGCTRRLV
VQQAGQAVAG EYSCEAGSQR LSFHLHVAEP KAVFAKEQPA SREVQAEAGT SATLSCEVAQ
AQTEVTWYKD GKKLSSSSKV RMEAVGCTRR LVVQEAGQAD AGEYSCKAGD QRLSFHLHVA
EPKVVFAKEQ PAHREVQAEA GASATLSCEV AQAQTEVTWY KDGKKLSSSS KVRVEAVGCT
RRLVVQQAGQ AEAGEYSCEA GGQQLSFRLQ VAELEPQISE RPCRREPLVV KEHEDIILTA
TLATPSAATV TWLKDGVEIR RSKRHETASQ GDTHTLTVHG AQVLDSAIYS CRVGAEGQDF
PVQVEEVAAK FCRLLEPVCG ELGGTVTLAC ELSPACAEVV WRCGNTQLRV GKRFQMVAEG
PVRSLTVLGL RAEDAGEYVC ESRDDHTSAQ LTVSVPRVVK FMSGLSTVVA EEGGEATFQC
VVSPSDVAVV WFRDGALLQP SEKFAISQSG ASHSLTISDL VLEDAGQITV EAEGASSSAA
LRVREAPVLF KKKLEPQTVE ERSSVTLEVE LTRPWPELRW TRNATALAPG KNVEIHAEGA
RHRLVLHNVG FADRGFFGCE TPDDKTQAKL TVEMRQVRLV RGLQAVEARE QGTATMEVQL
SHADVDGSWT RDGLRFQQGP TCHLAVRGPM HTLTLSGLRP EDSGLMVFKA EGVHTSARLV
VTELPVSFSR PLQDVVTTEK EKVTLECELS RPNVDVRWLK DGVELRAGKT MAIAAQGACR
SLTIYRCEFA DQGVYVCDAH DAQSSASVKV QGRTYTLIYR RVLAEDAGEI QFVAENAESR
AQLRVKELPV TLVRPLRDKI AMEKHRGVLE CQVSRASAQV RWFKGSQELQ PGPKYELVSD
GLYRKLIISD VHAEDEDTYT CDAGDVKTSA QFFVEEQSIT IVRGLQDVTV MEPAPAWFEC
ETSIPSVRPP KWLLGKTVLQ AGGNVGLEQE GTVHRLMLRR TCSTMTGPVH FTVGKSRSSA
RLVVSDIPVV LTRPLEPKTG RELQSVVLSC DFRPAPKAVQ WYKDDTPLSP SEKFKMSLEG
QMAELRILRL MPADAGVYRC QAGSAHSSTE VTVEAREVTV TGPLQDAEAT EEGWASFSCE
LSHEDEEVEW SLNGMPLYND SFHEISHKGR RHTLVLKSIQ RADAGIVRAS SLKVSTSARL
EVRVKPVVFL KALDDLSAEE RGTLALQCEV SDPEAHVVWR KDGVQLGPSD KYDFLHTAGT
RGLVVHDVSP EDAGLYTCHV GSEETRARVR VHDLHVGITK RLKTMEVLEG ESCSFECVLS
HESASDPAMW TVGGKTVGSS SRFQATRQGR KYILVVREAA PSDAGEVVFS VRGLTSKASL
IVRERPAAII KPLEDQWVAP GEDVELRCEL SRAGTPVHWL KDRKAIRKSQ KYDVVCEGTM
AMLVIRGASL KDAGEYTCEV EASKSTASLH VEEKANCFTE ELTNLQVEEK GTAVFTCKTE
HPAATVTWRK GLLELRASGK HQPSQEGLTL RLTISALEKA DSDTYTCDIG QAQSRAQLLV
QGRRVHIIED LEDVDVQEGS SATFRCRISP ANYEPVHWFL DKTPLHANEL NEIDAQPGGY
HVLTLRQLAL KDSGTIYFEA GDQRASAALR VTEKPSVFSR ELTDATITEG EDLTLVCETS
TCDIPVCWTK DGKTLRGSAR CQLSHEGHRA QLLITGATLQ DSGRYKCEAG GACSSSIVRV
HARPVRFQEA LKDLEVLEGG AATLRCVLSS VAAPVKWCYG NNVLRPGDKY SLRQEGAMLE
LVVRNLRPQD SGRYSCSFGD QTTSATLTVT ALPAQFIGKL RNKEATEGAT ATLRCELSKA
APVEWRKGSE TLRDGDRYCL RQDGAMCELQ IRGLAMVDAA EYSCVCGEER TSASLTIRPM
PAHFIGRLRH QESIEGATAT LRCELSKAAP VEWRKGRESL RDGDRHSLRQ DGAVCELQIC
GLAVADAGEY SCVCGEERTS ATLTVKALPA KFTEGLRNEE AVEGATAMLW CELSKVAPVE
WRKGPENLRD GDRYILRQEG TRCELQICGL AMADAGEYLC VCGQERTSAT LTIRALPARF
IEDVKNQEAR EGATAVLQCE LNSAAPVEWR KGSETLRDGD RYSLRQDGTK CELQIRGLAM
ADTGEYSCVC GQERTSAMLT VRALPIKFTE GLRNEEATEG ATAVLRCELS KMAPVEWWKG
HETLRDGDRH SLRQDGARCE LQIRGLVAED AGEYLCMCGK ERTSAMLTVR AMPSKFIEGL
RNEEATEGDT ATLWCELSKA APVEWRKGHE TLRDGDRHSL RQDGSRCELQ IRGLAVVDAG
EYSCVCGQER TSATLTVRAL PARFIEDVKN QEAREGATAV LQCELSKAAP VEWRKGSETL
RGGDRYSLRQ DGTRCELQIH GLSVADTGEY SCVCGQERTS ATLTVRAPQP VFREPLQSLQ
AEEGSTATLQ CELSEPTATV VWSKGGLQLQ ANGRREPRLQ GCTAELVLQD LQREDTGEYT
CTCGSQATSA TLTVTAAPVR FLRELQHQEV DEGGTAHLCC ELSRAGASVE WRKGSLQLFP
CAKYQMVQDG AAAELLVRGV EQEDAGDYTC DTGHTQSMAS LSVRVPRPKF KTRLQSLEQE
TGDIARLCCQ LSDAESGAVV QWLKEGVELH AGPKYEMRSQ GATRELLIHQ LEAKDTGEYA
CVTGGQKTAA SLRVTEPEVT IVRGLVDAEV TADEDVEFSC EVSRAGATGV QWCLQGLPLQ
SNEVTEVAVR DGRIHTLRLK GVTPEDAGTV SFHLGNHASS AQLTVRAPEV TILEPLQDVQ
LSEGQDASFQ CRLSRASGQE ARWALGGVPL QANEMNDITV EQGTLHLLTL HKVTLEDAGT
VSFHVGTCSS EAQLKVTAKN TVVRGLENVE ALEGGEALFE CQLSQPEVAA HTWLLDDEPV
HTSENAEVVF FENGLRHLLL LKNLRPQDSC RVTFLAGDMV TSAFLTVRGW RLEILEPLKN
AAVRAGAQAC FTCTLSEAVP VGEASWYING AAVQPDDSDW TVTADGSHHA LLLRSAQPHH
AGEVTFACRD AVASARLTVL GLPDPPEDAE VVARSSHTVT LSWAAPMSDG GGGLCGYRVE
VKEGATGQWR LCHELVPGPE CVVDGLAPGE TYRFRVAAVG PVGAGEPVHL PQTVRLAEPP
KPVPPQPSAP ESRQVAAGED VSLELEVVAE AGEVIWHKGM ERIQPGGRFE VVSQGRQQML
VIKGFTAEDQ GEYHCGLAQG SICPAAATFQ VALSPASVDE APQPSLPPEA AQEGDLHLLW
EALARKRRMS REPTLDSISE LPEEDGRSQR LPQEAEEVAP DLSEGYSTAD ELARTGDADL
SHTSSDDESR AGTPSLVTYL KKAGRPGTSP LASKVGAPAA PSVKPQQQQE PLAAVRPPLG
DLSTKDLGDP SMDKAAVKIQ AAFKGYKVRK EMKQQEGPMF SHTFGDTEAQ VGDALRLECV
VASKADVRAR WLKDGVELTD GRHHHIDQLG DGTCSLLITG LDRADAGCYT CQVSNKFGQV
THSACVVVSG SESEAESSSG GELDDAFRRA ARRLHRLFRT KSPAEVSDEE LFLSADEGPA
EPEEPADWQT YREDEHFICI RFEALTEARQ AVTRFQEMFA TLGIGVEIKL VEQGPRRVEM
CISKETPAPV VPPEPLPSLL TSDAAPVFLT ELQNQEVQDG YPVSFDCVVT GQPMPSVRWF
KDGKLLEEDD HYMINEDQQG GHQLIITAVV PADMGVYRCL AENSMGVSST KAELRVDLTS
TDYDTAADAT ESSSYFSAQG YLSSREQEGT ESTTDEGQLP QVVEELRDLQ VAPGTRLAKF
QLKVKGYPAP RLYWFKDGQP LTASAHIRMT DKKILHTLEI ISVTREDSGQ YAAYISNAMG
AAYSSARLLV RGPDEPEEKP ASDVHEQLVP PRMLERFTPK KVKKGSSITF SVKVEGRPVP
TVHWLREEAE RGVLWIGPDT PGYTVASSAQ QHSLVLLDVG RQHQGTYTCI ASNAAGQALC
SASLHVSGLP KVEEQEKVKE ALISTFLQGT TQAISAQGLE TASFADLGGQ RKEEPLAAKE
ALGHLSLAEV GTEEFLQKLT SQITEMVSAK ITQAKLQVPG GDSDEDSKTP SASPRHGRSR
PSSSIQESSS ESEDGDARGE IFDIYVVTAD YLPLGAEQDA ITLREGQYVE VLDAAHPLRW
LVRTKPTKSS PSRQGWVSPA YLDRRLKLSP EWGAAEAPEF PGEAVSEDEY KARLSSVIQE
LLSSEQAFVE ELQFLQSHHL QHLERCPHVP IAVAGQKAVI FRNVRDIGRF HSSFLQELQQ
CDTDDDVAMC FIKNQAAFEQ YLEFLVGRVQ AESVVVSTAI QEFYKKYAEE ALLAGDPSQP
PPPPLQHYLE QPVERVQRYQ ALLKELIRNK ARNRQNCALL EQAYAVVSAL PQRAENKLHV
SLMENYPGTL QALGEPIRQG HFIVWEGAPG ARMPWKGHNR HVFLFRNHLV ICKPRRDSRT
DTVSYVFRNM MKLSSIDLND QVEGDDRAFE VWQEREDSVR KYLLQARTAI IKSSWVKEIC
GIQQRLALPV WRPPDFEEEL ADCTAELGET VKLACRVTGT PKPVISWYKD GKAVQVDPHH
ILIEDPDGSC ALILDSLTGV DSGQYMCFAA SAAGNCSTLG KILVQVPPRF VNKVRASPFV
EGEDAQFTCT IEGAPYPQIR WYKDGALLTT GNKFQTLSEP RSGLLVLVIR AASKEDLGLY
ECELVNRLGS ARASAELRIQ SPMLQAQEQC HREQLVAAVE DTTLERADQE VTSVLKRLLG
PKAPGPSTGD LTGPGPCPRG APALQETGSQ PPVTGTSEAP AVPPRVPQPL LHEGPEQEPE
AIARAQEWTV PIRMEGAAWP GAGTGELLWD VHSHVVRETT QRTYTYQAID THTARPPSMQ
VTIEDVQAQT GGTAQFEAII EGDPQPSVTW YKDSVQLVDS TRLSQQQEGT TYSLVLRHVA
SKDAGVYTCL AQNTGGQVLC KAELLVLGGD NEPDSEKQSH RRKLHSFYEV KEEIGRGVFG
FVKRVQHKGN KILCAAKFIP LRSRTRAQAY RERDILAALS HPLVTGLLDQ FETRKTLILI
LELCSSEELL DRLYRKGVVT EAEVKVYIQQ LVEGLHYLHS HGVLHLDIKP SNILMVHPAR
EDIKICDFGF AQNITPAELQ FSQYGSPEFV SPEIIQQNPV SEASDIWAMG VISYLSLTCS
SPFAGESDRA TLLNVLEGRV SWSSPMAAHL SEDAKDFIKA TLQRAPQARP SAAQCLSHPW
FLKSMPAEEA HFINTKQLKF LLARSRWQRS LMSYKSILVM RSIPELLRGP PDSPSLGVAR
HLCRDTGGSS SSSSSSDNEL APFARAKSLP PSPVTHSPLL HPRGFLRPSA SLPEEAEASE
RSTEAPAPPA SPEGAGPPAA QGCVPRHSVI RSLFYHQAGE SPEHGALAPG SRRHPARRRH
LLKGGYIAGA LPGLREPLME HRVLEEEAAR EEQATLLAKA PSFETALRLP ASGTHLAPGH
SHSLEHDSPS TPRPSSEACG EAQRLPSAPS GGAPIRDMGH PQGSKQLPST GGHPGTAQPE
RPSPDSPWGQ PAPFCHPKQG SAPQEGCSPH PAVAPCPPGS FPPGSCKEAP LVPSSPFLGQ
PQAPPAPAKA SPPLDSKMGP GDISLPGRPK PGPCSSPGSA SQASSSQVSS LRVGSSQVGT
EPGPSLDAEG WTQEAEDLSD STPTLQRPQE QATMRKFSLG GRGGYAGVAG YGTFAFGGDA
GGMLGQGPMW ARIAWAVSQS EEEEQEEARA ESQSEEQQEA RAESPLPQVS ARPVPEVGRA
PTRSSPEPTP WEDIGQVSLV QIRDLSGDAE AADTISLDIS EVDPAYLNLS DLYDIKYLPF
EFMIFRKVPK SAQPEPPSPM AEEELAEFPE PTWPWPGELG PHAGLEITEE SEDVDALLAE
AAVGRKRKWS SPSRSLFHFP GRHLPLDEPA ELGLRERVKA SVEHISRILK GRPEGLEKEG
PPRKKPGLAS FRLSGLKSWD RAPTFLRELS DETVVLGQSV TLACQVSAQP AAQATWSKDG
APLESSSRVL ISATLKNFQL LTILVVVAED LGVYTCSVSN ALGTVTTTGV LRKAERPSSS
PCPDIGEVYA DGVLLVWKPV ESYGPVTYIV QCSLEGGSWT TLASDIFDCC YLTSKLSRGG
TYTFRTACVS KAGMGPYSSP SEQVLLGGPS HLASEEESQG RSAQPLPSTK TFAFQTQIQR
GRFSVVRQCW EKASGRALAA KIIPYHPKDK TAVLREYEAL KGLRHPHLAQ LHAAYLSPRH
LVLILELCSG PELLPCLAER ASYSESEVKD YLWQMLSATQ YLHNQHILHL DLRSENMIIT
EYNLLKVVDL GNAQSLSQEK VLPSDKFKDY LETMAPELLE GQGAVPQTDI WAIGVTAFIM
LSAEYPVSSE GARDLQRGLR KGLVRLSRCY AGLSGGAVAF LRSTLCAQPW GRPCASSCLQ
CPWLTEEGPA CSRPAPVTFP TARLRVFVRN REKRRALLYK RHNLAQVR*

mutated AA sequence

MDQPQFSGAP RFLTRPKAFV VSVGKDATLS CQIVGNPTPQ VSWEKDQQPV AAGARFRLAQ
DGDLYRLTIL DLALGDSGQY VCRARNAIGE AFAAVGLQVD AEAACAEQAP HFLLRPTSIR
VREGSEATFR CRVGGSPRPA VSWSKDGRRL GEPDGPRVRV EELGEASALR IRAARPRDGG
TYEVRAENPL GAASAAAALV VDSDAADTAS RPGTSTAALL AHLQRRREAM RAEGAPASPP
STGTRTCTVT EGKHARLSCY VTGEPKPETV WKKDGQLVTE GRRHVVYEDA QENFVLKILF
CKQSDRGLYT CTASNLVGQT YSSVLVVVRE PAVPFKKRLQ DLEVREKESA TFLCEVPQPS
TEAAWFKEET RLWASAKYGI EEEGTERRLT VRNVSADDDA VYICETPEGS RTVAELAVQG
NLLRKLPRKT AVRVGDTAMF CVELAVPVGP VHWLRNQEEV VAGGRVAISA EGTRHTLTIS
QCCLEDVGQV AFMAGDCQTS TQFCVSAPRK PPLQPPVDPV VKARMESSVI LSWSPPPHGE
RPVTIDGYLV EKKKLGTYTW IRCHEAEWVA TPELTVADVA EEGNFQFRVS ALNSFGQSPY
LEFPGTVHLA PKLAVRTPLK AVQAVEGGEV TFSVDLTVAS AGEWFLDGQA LKASSVYEIH
CDRTRHTLTI REVPASLHGA QLKFVANGIE SSIRMEVRAA PGLTANKPPA AAAREVLARL
HEEAQLLAEL SDQAAAVTWL KDGRTLSPGP KYEVQASAGR RVLLVRDVAR DDAGLYECVS
RGGRIAYQLS VQGLARFLHK DMAGSCVDAV AGGPAQFECE TSEAHVHVHW YKDGMELGHS
GERFLQEDVG TRHRLVAATV TRQDEGTYSC RVGEDSVDFR LRVSEPKVVF AKEQLARRKL
QAEAGASATL SCEVAQAQTE VTWYKDGKKL SSSSKVCMEA TGCTRRLVVQ QAGQADAGEY
SCEAGGQRLS FHLDVKEPKV VFAKDQVAHS EVQAEAGASA TLSCEVAQAQ TEVMWYKDGK
KLSSSLKVHV EAKGCRRRLV VQQAGKTDAG DYSCEARGQR VSFRLHITEP KMMFAKEQSV
HNEVQAEAGA SAMLSCEVAQ AQTEVTWYKD GKKLSSSSKV GMEVKGCTRR LVLPQAGKAD
AGEYSCEAGG QRVSFHLHIT EPKGVFAKEQ SVHNEVQAEA GTTAMLSCEV AQPQTEVTWY
KDGKKLSSSS KVRMEVKGCT RRLVVQQVGK ADAGEYSCEA GGQRVSFQLH ITEPKAVFAK
EQLVHNEVRT EAGASATLSC EVAQAQTEVT WYKDGKKLSS SSKVRIEAAG CMRQLVVQQA
GQADAGEYTC EAGGQRLSFH LDVSEPKAVF AKEQLAHRKV QAEAGAIATL SCEVAQAQTE
VTWYKDGKKL SSSSKVRMEA VGCTRRLVVQ QACQADTGEY SCEAGGQRLS FSLDVAEPKV
VFAKEQPVHR EVQAQAGAST TLSCEVAQAQ TEVMWYKDGK KLSFSSKVRM EAVGCTRRLV
VQQAGQAVAG EYSCEAGSQR LSFHLHVAEP KAVFAKEQPA SREVQAEAGT SATLSCEVAQ
AQTEVTWYKD GKKLSSSSKV RMEAVGCTRR LVVQEAGQAD AGEYSCKAGD QRLSFHLHVA
EPKVVFAKEQ PAHREVQAEA GASATLSCEV AQAQTEVTWY KDGKKLSSSS KVRVEAVGCT
RRLVVQQAGQ AEAGEYSCEA GGQQLSFRLQ VAELEPQISE RPCRREPLVV KEHEDIILTA
TLATPSAATV TWLKDGVEIR RSKRHETASQ GDTHTLTVHG AQVLDSAIYS CRVGAEGQDF
PVQVEEVAAK FCRLLEPVCG ELGGTVTLAC ELSPACAEVV WRCGNTQLRV GKRFQMVAEG
PVRSLTVLGL RAEDAGEYVC ESRDDHTSAQ LTVSVPRVVK FMSGLSTVVA EEGGEATFQC
VVSPSDVAVV WFRDGALLQP SEKFAISQSG ASHSLTISDL VLEDAGQITV EAEGASSSAA
LRVREAPVLF KKKLEPQTVE ERSSVTLEVE LTRPWPELRW TRNATALAPG KNVEIHAEGA
RHRLVLHNVG FADRGFFGCE TPDDKTQAKL TVEMRQVRLV RGLQAVEARE QGTATMEVQL
SHADVDGSWT RDGLRFQQGP TCHLAVRGPM HTLTLSGLRP EDSGLMVFKA EGVHTSARLV
VTELPVSFSR PLQDVVTTEK EKVTLECELS RPNVDVRWLK DGVELRAGKT MAIAAQGACR
SLTIYRCEFA DQGVYVCDAH DAQSSASVKV QGRTYTLIYR RVLAEDAGEI QFVAENAESR
AQLRVKELPV TLVRPLRDKI AMEKHRGVLE CQVSRASAQV RWFKGSQELQ PGPKYELVSD
GLYRKLIISD VHAEDEDTYT CDAGDVKTSA QFFVEEQSIT IVRGLQDVTV MEPAPAWFEC
ETSIPSVRPP KWLLGKTVLQ AGGNVGLEQE GTVHRLMLRR TCSTMTGPVH FTVGKSRSSA
RLVVSDIPVV LTRPLEPKTG RELQSVVLSC DFRPAPKAVQ WYKDDTPLSP SEKFKMSLEG
QMAELRILRL MPADAGVYRC QAGSAHSSTE VTVEAREVTV TGPLQDAEAT EEGWASFSCE
LSHEDEEVEW SLNGMPLYND SFHEISHKGR RHTLVLKSIQ RADAGIVRAS SLKVSTSARL
EVRVKPVVFL KALDDLSAEE RGTLALQCEV SDPEAHVVWR KDGVQLGPSD KYDFLHTAGT
RGLVVHDVSP EDAGLYTCHV GSEETRARVR VHDLHVGITK RLKTMEVLEG ESCSFECVLS
HESASDPAMW TVGGKTVGSS SRFQATRQGR KYILVVREAA PSDAGEVVFS VRGLTSKASL
IVRERPAAII KPLEDQWVAP GEDVELRCEL SRAGTPVHWL KDRKAIRKSQ KYDVVCEGTM
AMLVIRGASL KDAGEYTCEV EASKSTASLH VEEKANCFTE ELTNLQVEEK GTAVFTCKTE
HPAATVTWRK GLLELRASGK HQPSQEGLTL RLTISALEKA DSDTYTCDIG QAQSRAQLLV
QGRRVHIIED LEDVDVQEGS SATFRCRISP ANYEPVHWFL DKTPLHANEL NEIDAQPGGY
HVLTLRQLAL KDSGTIYFEA GDQRASAALR VTEKPSVFSR ELTDATITEG EDLTLVCETS
TCDIPVCWTK DGKTLRGSAR CQLSHEGHRA QLLITGATLQ DSGRYKCEAG GACSSSIVRV
HARPVRFQEA LKDLEVLEGG AATLRCVLSS VAAPVKWCYG NNVLRPGDKY SLRQEGAMLE
LVVRNLRPQD SGRYSCSFGD QTTSATLTVT ALPAQFIGKL RNKEATEGAT ATLRCELSKA
APVEWRKGSE TLRDGDRYCL RQDGAMCELQ IRGLAMVDAA EYSCVCGEER TSASLTIRPM
PAHFIGRLRH QESIEGATAT LRCELSKAAP VEWRKGRESL RDGDRHSLRQ DGAVCELQIC
GLAVADAGEY SCVCGEERTS ATLTVKALPA KFTEGLRNEE AVEGATAMLW CELSKVAPVE
WRKGPENLRD GDRYILRQEG TRCELQICGL AMADAGEYLC VCGQERTSAT LTIRALPARF
IEDVKNQEAR EGATAVLQCE LNSAAPVEWR KGSETLRDGD RYSLRQDGTK CELQIRGLAM
ADTGEYSCVC GQERTSAMLT VRALPIKFTE GLRNEEATEG ATAVLRCELS KMAPVEWWKG
HETLRDGDRH SLRQDGARCE LQIRGLVAED AGEYLCMCGK ERTSAMLTVR AMPSKFIEGL
RNEEATEGDT ATLWCELSKA APVEWRKGHE TLRDGDRHSL RQDGSRCELQ IRGLAVVDAG
EYSCVCGQER TSATLTVRAL PARFIEDVKN QEAREGATAV LQCELSKAAP VEWRKGSETL
RGGDRYSLRQ DGTRCELQIH GLSVADTGEY SCVCGQERTS ATLTVRAPQP VFREPLQSLQ
AEEGSTATLQ CELSEPTATV VWSKGGLQLQ ANGRREPRLQ GCTAELVLQD LQREDTGEYT
CTCGSQATSA TLTVTAAPVR FLRELQHQEV DEGGTAHLCC ELSRAGASVE WRKGSLQLFP
CAKYQMVQDG AAAELLVRGV EQEDAGDYTC DTGHTQSMAS LSVRVPRPKF KTRLQSLEQE
TGDIARLCCQ LSDAESGAVV QWLKEGVELH AGPKYEMRSQ GATRELLIHQ LEAKDTGEYA
CVTGGQKTAA SLRVTEPEVT IVRGLVDAEV TADEDVEFSC EVSRAGATGV QWCLQGLPLQ
SNEVTEVAVR DGRIHTLRLK GVTPEDAGTV SFHLGNHASS AQLTVRAPEV TILEPLQDVQ
LSEGQDASFQ CRLSRASGQE ARWALGGVPL QANEMNDITV EQGTLHLLTL HKVTLEDAGT
VSFHVGTCSS EAQLKVTAKN TVVRGLENVE ALEGGEALFE CQLSQPEVAA HTWLLDDEPV
HTSENAEVVF FENGLRHLLL LKNLRPQDSC RVTFLAGDMV TSAFLTVRGW RLEILEPLKN
AAVRAGAQAC FTCTLSEAVP VGEASWYING AAVQPDDSDW TVTADGSHHA LLLRSAQPHH
AGEVTFACRD AVASARLTVL GLPDPPEDAE VVARSSHTVT LSWAAPMSDG GGGLCGYRVE
VKEGATGQWR LCHELVPGPE CVVDGLAPGE TYRFRVAAVG PVGAGEPVHL PQTVRLAEPP
KPVPPQPSAP ESRQVAAGED VSLELEVVAE AGEVIWHKGM ERIQPGGRFE VVSQGRQQML
VIKGFTAEDQ GEYHCGLAQG SICPAAATFQ VALSPASVDE APQPSLPPEA AQEGDLHLLW
EALARKRRMS REPTLDSISE LPEEDGRSQR LPQEAEEVAP DLSEGYSTAD ELARTGDADL
SHTSSDDESR AGTPSLVTYL KKAGRPGTSP LASKVGAPAA PSVKPQQQQE PLAAVRPPLG
DLSTKDLGDP SMDKAAVKIQ AAFKGYKVRK EMKQQEGPMF SHTFGDTEAQ VGDALRLECV
VASKADVRAR WLKDGVELTD GRHHHIDQLG DGTCSLLITG LGRADAGCYT CQVSNKFGQV
THSACVVVSG SESEAESSSG GELDDAFRRA ARRLHRLFRT KSPAEVSDEE LFLSADEGPA
EPEEPADWQT YREDEHFICI RFEALTEARQ AVTRFQEMFA TLGIGVEIKL VEQGPRRVEM
CISKETPAPV VPPEPLPSLL TSDAAPVFLT ELQNQEVQDG YPVSFDCVVT GQPMPSVRWF
KDGKLLEEDD HYMINEDQQG GHQLIITAVV PADMGVYRCL AENSMGVSST KAELRVDLTS
TDYDTAADAT ESSSYFSAQG YLSSREQEGT ESTTDEGQLP QVVEELRDLQ VAPGTRLAKF
QLKVKGYPAP RLYWFKDGQP LTASAHIRMT DKKILHTLEI ISVTREDSGQ YAAYISNAMG
AAYSSARLLV RGPDEPEEKP ASDVHEQLVP PRMLERFTPK KVKKGSSITF SVKVEGRPVP
TVHWLREEAE RGVLWIGPDT PGYTVASSAQ QHSLVLLDVG RQHQGTYTCI ASNAAGQALC
SASLHVSGLP KVEEQEKVKE ALISTFLQGT TQAISAQGLE TASFADLGGQ RKEEPLAAKE
ALGHLSLAEV GTEEFLQKLT SQITEMVSAK ITQAKLQVPG GDSDEDSKTP SASPRHGRSR
PSSSIQESSS ESEDGDARGE IFDIYVVTAD YLPLGAEQDA ITLREGQYVE VLDAAHPLRW
LVRTKPTKSS PSRQGWVSPA YLDRRLKLSP EWGAAEAPEF PGEAVSEDEY KARLSSVIQE
LLSSEQAFVE ELQFLQSHHL QHLERCPHVP IAVAGQKAVI FRNVRDIGRF HSSFLQELQQ
CDTDDDVAMC FIKNQAAFEQ YLEFLVGRVQ AESVVVSTAI QEFYKKYAEE ALLAGDPSQP
PPPPLQHYLE QPVERVQRYQ ALLKELIRNK ARNRQNCALL EQAYAVVSAL PQRAENKLHV
SLMENYPGTL QALGEPIRQG HFIVWEGAPG ARMPWKGHNR HVFLFRNHLV ICKPRRDSRT
DTVSYVFRNM MKLSSIDLND QVEGDDRAFE VWQEREDSVR KYLLQARTAI IKSSWVKEIC
GIQQRLALPV WRPPDFEEEL ADCTAELGET VKLACRVTGT PKPVISWYKD GKAVQVDPHH
ILIEDPDGSC ALILDSLTGV DSGQYMCFAA SAAGNCSTLG KILVQVPPRF VNKVRASPFV
EGEDAQFTCT IEGAPYPQIR WYKDGALLTT GNKFQTLSEP RSGLLVLVIR AASKEDLGLY
ECELVNRLGS ARASAELRIQ SPMLQAQEQC HREQLVAAVE DTTLERADQE VTSVLKRLLG
PKAPGPSTGD LTGPGPCPRG APALQETGSQ PPVTGTSEAP AVPPRVPQPL LHEGPEQEPE
AIARAQEWTV PIRMEGAAWP GAGTGELLWD VHSHVVRETT QRTYTYQAID THTARPPSMQ
VTIEDVQAQT GGTAQFEAII EGDPQPSVTW YKDSVQLVDS TRLSQQQEGT TYSLVLRHVA
SKDAGVYTCL AQNTGGQVLC KAELLVLGGD NEPDSEKQSH RRKLHSFYEV KEEIGRGVFG
FVKRVQHKGN KILCAAKFIP LRSRTRAQAY RERDILAALS HPLVTGLLDQ FETRKTLILI
LELCSSEELL DRLYRKGVVT EAEVKVYIQQ LVEGLHYLHS HGVLHLDIKP SNILMVHPAR
EDIKICDFGF AQNITPAELQ FSQYGSPEFV SPEIIQQNPV SEASDIWAMG VISYLSLTCS
SPFAGESDRA TLLNVLEGRV SWSSPMAAHL SEDAKDFIKA TLQRAPQARP SAAQCLSHPW
FLKSMPAEEA HFINTKQLKF LLARSRWQRS LMSYKSILVM RSIPELLRGP PDSPSLGVAR
HLCRDTGGSS SSSSSSDNEL APFARAKSLP PSPVTHSPLL HPRGFLRPSA SLPEEAEASE
RSTEAPAPPA SPEGAGPPAA QGCVPRHSVI RSLFYHQAGE SPEHGALAPG SRRHPARRRH
LLKGGYIAGA LPGLREPLME HRVLEEEAAR EEQATLLAKA PSFETALRLP ASGTHLAPGH
SHSLEHDSPS TPRPSSEACG EAQRLPSAPS GGAPIRDMGH PQGSKQLPST GGHPGTAQPE
RPSPDSPWGQ PAPFCHPKQG SAPQEGCSPH PAVAPCPPGS FPPGSCKEAP LVPSSPFLGQ
PQAPPAPAKA SPPLDSKMGP GDISLPGRPK PGPCSSPGSA SQASSSQVSS LRVGSSQVGT
EPGPSLDAEG WTQEAEDLSD STPTLQRPQE QATMRKFSLG GRGGYAGVAG YGTFAFGGDA
GGMLGQGPMW ARIAWAVSQS EEEEQEEARA ESQSEEQQEA RAESPLPQVS ARPVPEVGRA
PTRSSPEPTP WEDIGQVSLV QIRDLSGDAE AADTISLDIS EVDPAYLNLS DLYDIKYLPF
EFMIFRKVPK SAQPEPPSPM AEEELAEFPE PTWPWPGELG PHAGLEITEE SEDVDALLAE
AAVGRKRKWS SPSRSLFHFP GRHLPLDEPA ELGLRERVKA SVEHISRILK GRPEGLEKEG
PPRKKPGLAS FRLSGLKSWD RAPTFLRELS DETVVLGQSV TLACQVSAQP AAQATWSKDG
APLESSSRVL ISATLKNFQL LTILVVVAED LGVYTCSVSN ALGTVTTTGV LRKAERPSSS
PCPDIGEVYA DGVLLVWKPV ESYGPVTYIV QCSLEGGSWT TLASDIFDCC YLTSKLSRGG
TYTFRTACVS KAGMGPYSSP SEQVLLGGPS HLASEEESQG RSAQPLPSTK TFAFQTQIQR
GRFSVVRQCW EKASGRALAA KIIPYHPKDK TAVLREYEAL KGLRHPHLAQ LHAAYLSPRH
LVLILELCSG PELLPCLAER ASYSESEVKD YLWQMLSATQ YLHNQHILHL DLRSENMIIT
EYNLLKVVDL GNAQSLSQEK VLPSDKFKDY LETMAPELLE GQGAVPQTDI WAIGVTAFIM
LSAEYPVSSE GARDLQRGLR KGLVRLSRCY AGLSGGAVAF LRSTLCAQPW GRPCASSCLQ
CPWLTEEGPA CSRPAPVTFP TARLRVFVRN REKRRALLYK RHNLAQVR*

speed

0.91 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999998328017291 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:228509427A>GN/A show variant in all transcripts IGV

HGNC symbol

OBSCN

Ensembl transcript ID

ENST00000366707

Genbank transcript ID

N/A

UniProt peptide

Q5VST9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.7787A>G
cDNA.16474A>G
g.113597A>G

AA changes

D2596G Score: 94 explain score(s)

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

2596

frameshift

known variant

Reference ID: rs373610

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1226	977	2203
ExAC	28901	-25035	3866

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.599	0.96
	0.225	0.118
(flanking)	-0.135	0.019

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	113590	wt: 0.9539 / mu: 0.9699 (marginal change - not scored)	wt: CCTGCTCTCTGCTGATCACTGGCCTGGACCGTGCTGATGCT mu: CCTGCTCTCTGCTGATCACTGGCCTGGGCCGTGCTGATGCT	actg\|GCCT
Acc marginally increased	113587	wt: 0.8180 / mu: 0.8378 (marginal change - not scored)	wt: GCACCTGCTCTCTGCTGATCACTGGCCTGGACCGTGCTGAT mu: GCACCTGCTCTCTGCTGATCACTGGCCTGGGCCGTGCTGAT	atca\|CTGG

distance from splice site

383

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2596

mutated

not conserved

2596

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000023096

1960

Fcatus

not conserved

ENSFCAG00000000673

4959

Mmusculus

not conserved

ENSMUSG00000061462

5191

Ggallus

all identical

ENSGALG00000004754

4968

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000043309

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
2564	2643	DOMAIN	Ig-like 25.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

16809 / 16809

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

5603 / 5603

position of stopcodon in wt / mu cDNA

25496 / 25496

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

8688 / 8688

chromosome

strand

last intron/exon boundary

25319

theoretical NMD boundary in CDS

16581

length of CDS

16809

coding sequence (CDS) position

7787

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

16474

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

113597

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

228509427

original gDNA sequence snippet

TCTGCTGATCACTGGCCTGGACCGTGCTGATGCTGGCTGCT

altered gDNA sequence snippet

TCTGCTGATCACTGGCCTGGGCCGTGCTGATGCTGGCTGCT

original cDNA sequence snippet

TCTGCTGATCACTGGCCTGGACCGTGCTGATGCTGGCTGCT

altered cDNA sequence snippet

TCTGCTGATCACTGGCCTGGGCCGTGCTGATGCTGGCTGCT

wildtype AA sequence

MLVIRGASLK DAGEYTCEVE ASKSTASLHV EEKANCFTEE LTNLQVEEKG TAVFTCKTEH
PAATVTWRKG LLELRASGKH QPSQEGLTLR LTISALEKAD SDTYTCDIGQ AQSRAQLLVQ
GRRVHIIEDL EDVDVQEGSS ATFRCRISPA NYEPVHWFLD KTPLHANELN EIDAQPGGYH
VLTLRQLALK DSGTIYFEAG DQRASAALRV TEKPSVFSRE LTDATITEGE DLTLVCETST
CDIPVCWTKD GKTLRGSARC QLSHEGHRAQ LLITGATLQD SGRYKCEAGG ACSSSIVRVH
ARPVRFQEAL KDLEVLEGGA ATLRCVLSSV AAPVKWCYGN NVLRPGDKYS LRQEGAMLEL
VVRNLRPQDS GRYSCSFGDQ TTSATLTVTA LPAQFIGKLR NKEATEGATA TLRCELSKAA
PVEWRKGSET LRDGDRYCLR QDGAMCELQI RGLAMVDAAE YSCVCGEERT SASLTIRPMP
AHFIGRLRHQ ESIEGATATL RCELSKAAPV EWRKGRESLR DGDRHSLRQD GAVCELQICG
LAVADAGEYS CVCGEERTSA TLTVKALPAK FTEGLRNEEA VEGATAMLWC ELSKVAPVEW
RKGPENLRDG DRYILRQEGT RCELQICGLA MADAGEYLCV CGQERTSATL TIRALPARFI
EDVKNQEARE GATAVLQCEL NSAAPVEWRK GSETLRDGDR YSLRQDGTKC ELQIRGLAMA
DTGEYSCVCG QERTSAMLTV RALPIKFTEG LRNEEATEGA TAVLRCELSK MAPVEWWKGH
ETLRDGDRHS LRQDGARCEL QIRGLVAEDA GEYLCMCGKE RTSAMLTVRA MPSKFIEGLR
NEEATEGDTA TLWCELSKAA PVEWRKGHET LRDGDRHSLR QDGSRCELQI RGLAVVDAGE
YSCVCGQERT SATLTVRALP ARFIEDVKNQ EAREGATAVL QCELSKAAPV EWRKGSETLR
GGDRYSLRQD GTRCELQIHG LSVADTGEYS CVCGQERTSA TLTVRALPAR FTQDLKTKEA
SEGATATLQC ELSKVAPVEW KKGPETLRDG GRYSLKQDGT RCELQIHDLS VADAGEYSCM
CGQERTSATL TVRALPARFT EGLRNEEAME GATATLQCEL SKAAPVEWRK GLEALRDGDK
YSLRQDGAVC ELQIHGLAMA DNGVYSCVCG QERTSATLTV RALPARFIED MRNQKATEGA
TVTLQCKLRK AAPVEWRKGP NTLKDGDRYS LKQDGTSCEL QIRGLVIADA GEYSCICEQE
RTSATLTVRA LPARFIEDVR NHEATEGATA VLQCELSKAA PVEWRKGSET LRDGDRYSLR
QDGTRCELQI RGLAVEDTGE YLCVCGQERT SATLTVRALP ARFIDNMTNQ EAREGATATL
HCELSKVAPV EWRKGPETLR DGDRHSLRQD GTRCELQIRG LSVADAGEYS CVCGQERTSA
TLTIREATEG ATAMLQCELS KVAPVEWRKG PETLRDGDRY NLRQDGTRCE LQIHGLSVAD
TGEYSCVCGQ EKTSATLTVK APQPVFREPL QSLQAEEGST ATLQCELSEP TATVVWSKGG
LQLQANGRRE PRLQGCTAEL VLQDLQREDT GEYTCTCGSQ ATSATLTVTA APVRFLRELQ
HQEVDEGGTA HLCCELSRAG ASVEWRKGSL QLFPCAKYQM VQDGAAAELL VRGVEQEDAG
DYTCDTGHTQ SMASLSVRVP RPKFKTRLQS LEQETGDIAR LCCQLSDAES GAVVQWLKEG
VELHAGPKYE MRSQGATREL LIHQLEAKDT GEYACVTGGQ KTAASLRVTE PEVTIVRGLV
DAEVTADEDV EFSCEVSRAG ATGVQWCLQG LPLQSNEVTE VAVRDGRIHT LRLKGVTPED
AGTVSFHLGN HASSAQLTVR APEVTILEPL QDVQLSEGQD ASFQCRLSRA SGQEARWALG
GVPLQANEMN DITVEQGTLH LLTLHKVTLE DAGTVSFHVG TCSSEAQLKV TAKNTVVRGL
ENVEALEGGE ALFECQLSQP EVAAHTWLLD DEPVHTSENA EVVFFENGLR HLLLLKNLRP
QDSCRVTFLA GDMVTSAFLT VRGWRLEILE PLKNAAVRAG AQACFTCTLS EAVPVGEASW
YINGAAVQPD DSDWTVTADG SHHALLLRSA QPHHAGEVTF ACRDAVASAR LTVLGLPDPP
EDAEVVARSS HTVTLSWAAP MSDGGGGLCG YRVEVKEGAT GQWRLCHELV PGPECVVDGL
APGETYRFRV AAVGPVGAGE PVHLPQTVRL AEPPKPVPPQ PSAPESRQVA AGEDVSLELE
VVAEAGEVIW HKGMERIQPG GRFEVVSQGR QQMLVIKGFT AEDQGEYHCG LAQGSICPAA
ATFQVALSPA SVDEAPQPSL PPEAAQEGDL HLLWEALARK RRMSREPTLD SISELPEEDG
RSQRLPQEAE EVAPDLSEGY STADELARTG DADLSHTSSD DESRAGTPSL VTYLKKAGRP
GTSPLASKVG APAAPSVKPQ QQQEPLAAVR PPLGDLSTKD LGDPSMDKAA VKIQAAFKGY
KVRKEMKQQE GPMFSHTFGD TEAQVGDALR LECVVASKAD VRARWLKDGV ELTDGRHHHI
DQLGDGTCSL LITGLDRADA GCYTCQVSNK FGQVTHSACV VVSGSESEAE SSSGGELDDA
FRRAARRLHR LFRTKSPAEV SDEELFLSAD EGPAEPEEPA DWQTYREDEH FICIRFEALT
EARQAVTRFQ EMFATLGIGV EIKLVEQGPR RVEMCISKET PAPVVPPEPL PSLLTSDAAP
VFLTELQNQE VQDGYPVSFD CVVTGQPMPS VRWFKDGKLL EEDDHYMINE DQQGGHQLII
TAVVPADMGV YRCLAENSMG VSSTKAELRV DLTSTDYDTA ADATESSSYF SAQGYLSSRE
QEGTESTTDE GQLPQVVEEL RDLQVAPGTR LAKFQLKVKG YPAPRLYWFK DGQPLTASAH
IRMTDKKILH TLEIISVTRE DSGQYAAYIS NAMGAAYSSA RLLVRGPDEP EEKPASDVHE
QLVPPRMLER FTPKKVKKGS SITFSVKVEG RPVPTVHWLR EEAERGVLWI GPDTPGYTVA
SSAQQHSLVL LDVGRQHQGT YTCIASNAAG QALCSASLHV SGLPKVEEQE KVKEALISTF
LQGTTQAISA QGLETASFAD LGGQRKEEPL AAKEALGHLS LAEVGTEEFL QKLTSQITEM
VSAKITQAKL QVPGGDSDED SKTPSASPRH GRSRPSSSIQ ESSSESEDGD ARGEIFDIYV
VTADYLPLGA EQDAITLREG QYVEVLDAAH PLRWLVRTKP TKSSPSRQGW VSPAYLDRRL
KLSPEWGAAE APEFPGEAVS EDEYKARLSS VIQELLSSEQ AFVEELQFLQ SHHLQHLERC
PHVPIAVAGQ KAVIFRNVRD IGRFHSSFLQ ELQQCDTDDD VAMCFIKNQA AFEQYLEFLV
GRVQAESVVV STAIQEFYKK YAEEALLAGD PSQPPPPPLQ HYLEQPVERV QRYQALLKEL
IRNKARNRQN CALLEQAYAV VSALPQRAEN KLHVSLMENY PGTLQALGEP IRQGHFIVWE
GAPGARMPWK GHNRHVFLFR NHLVICKPRR DSRTDTVSYV FRNMMKLSSI DLNDQVEGDD
RAFEVWQERE DSVRKYLLQA RTAIIKSSWV KEICGIQQRL ALPVWRPPDF EEELADCTAE
LGETVKLACR VTGTPKPVIS WYKDGKAVQV DPHHILIEDP DGSCALILDS LTGVDSGQYM
CFAASAAGNC STLGKILVQV PPRFVNKVRA SPFVEGEDAQ FTCTIEGAPY PQIRWYKDGA
LLTTGNKFQT LSEPRSGLLV LVIRAASKED LGLYECELVN RLGSARASAE LRIQSPMLQA
QEQCHREQLV AAVEDTTLER ADQEVTSVLK RLLGPKAPGP STGDLTGPGP CPRGAPALQE
TGSQPPVTGT SEAPAVPPRV PQPLLHEGPE QEPEAIARAQ EWTVPIRMEG AAWPGAGTGE
LLWDVHSHVV RETTQRTYTY QAIDTHTARP PSMQVTIEDV QAQTGGTAQF EAIIEGDPQP
SVTWYKDSVQ LVDSTRLSQQ QEGTTYSLVL RHVASKDAGV YTCLAQNTGG QVLCKAELLV
LGGDNEPDSE KQSHRRKLHS FYEVKEEIGR GVFGFVKRVQ HKGNKILCAA KFIPLRSRTR
AQAYRERDIL AALSHPLVTG LLDQFETRKT LILILELCSS EELLDRLYRK GVVTEAEVKV
YIQQLVEGLH YLHSHGVLHL DIKPSNILMV HPAREDIKIC DFGFAQNITP AELQFSQYGS
PEFVSPEIIQ QNPVSEASDI WAMGVISYLS LTCSSPFAGE SDRATLLNVL EGRVSWSSPM
AAHLSEDAKD FIKATLQRAP QARPSAAQCL SHPWFLKSMP AEEAHFINTK QLKFLLARSR
WQRSLMSYKS ILVMRSIPEL LRGPPDSPSL GVARHLCRDT GGSSSSSSSS DNELAPFARA
KSLPPSPVTH SPLLHPRGFL RPSASLPEEA EASERSTEAP APPASPEGAG PPAAQGCVPR
HSVIRSLFYH QAGESPEHGA LAPGSRRHPA RRRHLLKGGY IAGALPGLRE PLMEHRVLEE
EAAREEQATL LAKAPSFETA LRLPASGTHL APGHSHSLEH DSPSTPRPSS EACGEAQRLP
SAPSGGAPIR DMGHPQGSKQ LPSTGGHPGT AQPERPSPDS PWGQPAPFCH PKQGSAPQEG
CSPHPAVAPC PPGSFPPGSC KEAPLVPSSP FLGQPQAPPA PAKASPPLDS KMGPGDISLP
GRPKPGPCSS PGSASQASSS QVSSLRVGSS QVGTEPGPSL DAEGWTQEAE DLSDSTPTLQ
RPQEQATMRK FSLGGRGGYA GVAGYGTFAF GGDAGGMLGQ GPMWARIAWA VSQSEEEEQE
EARAESQSEE QQEARAESPL PQVSARPVPE VGRAPTRSSP EPTPWEDIGQ VSLVQIRDLS
GDAEAADTIS LDISEVDPAY LNLSDLYDIK YLPFEFMIFR KVPKSAQPEP PSPMAEEELA
EFPEPTWPWP GELGPHAGLE ITEESEDVDA LLAEAAVGRK RKWSSPSRSL FHFPGRHLPL
DEPAELGLRE RVKASVEHIS RILKGRPEGL EKEGPPRKKP GLASFRLSGL KSWDRAPTFL
RELSDETVVL GQSVTLACQV SAQPAAQATW SKDGAPLESS SRVLISATLK NFQLLTILVV
VAEDLGVYTC SVSNALGTVT TTGVLRKAER PSSSPCPDIG EVYADGVLLV WKPVESYGPV
TYIVQCSLEG GSWTTLASDI FDCCYLTSKL SRGGTYTFRT ACVSKAGMGP YSSPSEQVLL
GGPSHLASEE ESQGRSAQPL PSTKTFAFQT QIQRGRFSVV RQCWEKASGR ALAAKIIPYH
PKDKTAVLRE YEALKGLRHP HLAQLHAAYL SPRHLVLILE LCSGPELLPC LAERASYSES
EVKDYLWQML SATQYLHNQH ILHLDLRSEN MIITEYNLLK VVDLGNAQSL SQEKVLPSDK
FKDYLETMAP ELLEGQGAVP QTDIWAIGVT AFIMLSAEYP VSSEGARDLQ RGLRKGLVRL
SRCYAGLSGG AVAFLRSTLC AQPWGRPCAS SCLQCPWLTE EGPACSRPAP VTFPTARLRV
FVRNREKRRA LLYKRHNLAQ VR*

mutated AA sequence

MLVIRGASLK DAGEYTCEVE ASKSTASLHV EEKANCFTEE LTNLQVEEKG TAVFTCKTEH
PAATVTWRKG LLELRASGKH QPSQEGLTLR LTISALEKAD SDTYTCDIGQ AQSRAQLLVQ
GRRVHIIEDL EDVDVQEGSS ATFRCRISPA NYEPVHWFLD KTPLHANELN EIDAQPGGYH
VLTLRQLALK DSGTIYFEAG DQRASAALRV TEKPSVFSRE LTDATITEGE DLTLVCETST
CDIPVCWTKD GKTLRGSARC QLSHEGHRAQ LLITGATLQD SGRYKCEAGG ACSSSIVRVH
ARPVRFQEAL KDLEVLEGGA ATLRCVLSSV AAPVKWCYGN NVLRPGDKYS LRQEGAMLEL
VVRNLRPQDS GRYSCSFGDQ TTSATLTVTA LPAQFIGKLR NKEATEGATA TLRCELSKAA
PVEWRKGSET LRDGDRYCLR QDGAMCELQI RGLAMVDAAE YSCVCGEERT SASLTIRPMP
AHFIGRLRHQ ESIEGATATL RCELSKAAPV EWRKGRESLR DGDRHSLRQD GAVCELQICG
LAVADAGEYS CVCGEERTSA TLTVKALPAK FTEGLRNEEA VEGATAMLWC ELSKVAPVEW
RKGPENLRDG DRYILRQEGT RCELQICGLA MADAGEYLCV CGQERTSATL TIRALPARFI
EDVKNQEARE GATAVLQCEL NSAAPVEWRK GSETLRDGDR YSLRQDGTKC ELQIRGLAMA
DTGEYSCVCG QERTSAMLTV RALPIKFTEG LRNEEATEGA TAVLRCELSK MAPVEWWKGH
ETLRDGDRHS LRQDGARCEL QIRGLVAEDA GEYLCMCGKE RTSAMLTVRA MPSKFIEGLR
NEEATEGDTA TLWCELSKAA PVEWRKGHET LRDGDRHSLR QDGSRCELQI RGLAVVDAGE
YSCVCGQERT SATLTVRALP ARFIEDVKNQ EAREGATAVL QCELSKAAPV EWRKGSETLR
GGDRYSLRQD GTRCELQIHG LSVADTGEYS CVCGQERTSA TLTVRALPAR FTQDLKTKEA
SEGATATLQC ELSKVAPVEW KKGPETLRDG GRYSLKQDGT RCELQIHDLS VADAGEYSCM
CGQERTSATL TVRALPARFT EGLRNEEAME GATATLQCEL SKAAPVEWRK GLEALRDGDK
YSLRQDGAVC ELQIHGLAMA DNGVYSCVCG QERTSATLTV RALPARFIED MRNQKATEGA
TVTLQCKLRK AAPVEWRKGP NTLKDGDRYS LKQDGTSCEL QIRGLVIADA GEYSCICEQE
RTSATLTVRA LPARFIEDVR NHEATEGATA VLQCELSKAA PVEWRKGSET LRDGDRYSLR
QDGTRCELQI RGLAVEDTGE YLCVCGQERT SATLTVRALP ARFIDNMTNQ EAREGATATL
HCELSKVAPV EWRKGPETLR DGDRHSLRQD GTRCELQIRG LSVADAGEYS CVCGQERTSA
TLTIREATEG ATAMLQCELS KVAPVEWRKG PETLRDGDRY NLRQDGTRCE LQIHGLSVAD
TGEYSCVCGQ EKTSATLTVK APQPVFREPL QSLQAEEGST ATLQCELSEP TATVVWSKGG
LQLQANGRRE PRLQGCTAEL VLQDLQREDT GEYTCTCGSQ ATSATLTVTA APVRFLRELQ
HQEVDEGGTA HLCCELSRAG ASVEWRKGSL QLFPCAKYQM VQDGAAAELL VRGVEQEDAG
DYTCDTGHTQ SMASLSVRVP RPKFKTRLQS LEQETGDIAR LCCQLSDAES GAVVQWLKEG
VELHAGPKYE MRSQGATREL LIHQLEAKDT GEYACVTGGQ KTAASLRVTE PEVTIVRGLV
DAEVTADEDV EFSCEVSRAG ATGVQWCLQG LPLQSNEVTE VAVRDGRIHT LRLKGVTPED
AGTVSFHLGN HASSAQLTVR APEVTILEPL QDVQLSEGQD ASFQCRLSRA SGQEARWALG
GVPLQANEMN DITVEQGTLH LLTLHKVTLE DAGTVSFHVG TCSSEAQLKV TAKNTVVRGL
ENVEALEGGE ALFECQLSQP EVAAHTWLLD DEPVHTSENA EVVFFENGLR HLLLLKNLRP
QDSCRVTFLA GDMVTSAFLT VRGWRLEILE PLKNAAVRAG AQACFTCTLS EAVPVGEASW
YINGAAVQPD DSDWTVTADG SHHALLLRSA QPHHAGEVTF ACRDAVASAR LTVLGLPDPP
EDAEVVARSS HTVTLSWAAP MSDGGGGLCG YRVEVKEGAT GQWRLCHELV PGPECVVDGL
APGETYRFRV AAVGPVGAGE PVHLPQTVRL AEPPKPVPPQ PSAPESRQVA AGEDVSLELE
VVAEAGEVIW HKGMERIQPG GRFEVVSQGR QQMLVIKGFT AEDQGEYHCG LAQGSICPAA
ATFQVALSPA SVDEAPQPSL PPEAAQEGDL HLLWEALARK RRMSREPTLD SISELPEEDG
RSQRLPQEAE EVAPDLSEGY STADELARTG DADLSHTSSD DESRAGTPSL VTYLKKAGRP
GTSPLASKVG APAAPSVKPQ QQQEPLAAVR PPLGDLSTKD LGDPSMDKAA VKIQAAFKGY
KVRKEMKQQE GPMFSHTFGD TEAQVGDALR LECVVASKAD VRARWLKDGV ELTDGRHHHI
DQLGDGTCSL LITGLGRADA GCYTCQVSNK FGQVTHSACV VVSGSESEAE SSSGGELDDA
FRRAARRLHR LFRTKSPAEV SDEELFLSAD EGPAEPEEPA DWQTYREDEH FICIRFEALT
EARQAVTRFQ EMFATLGIGV EIKLVEQGPR RVEMCISKET PAPVVPPEPL PSLLTSDAAP
VFLTELQNQE VQDGYPVSFD CVVTGQPMPS VRWFKDGKLL EEDDHYMINE DQQGGHQLII
TAVVPADMGV YRCLAENSMG VSSTKAELRV DLTSTDYDTA ADATESSSYF SAQGYLSSRE
QEGTESTTDE GQLPQVVEEL RDLQVAPGTR LAKFQLKVKG YPAPRLYWFK DGQPLTASAH
IRMTDKKILH TLEIISVTRE DSGQYAAYIS NAMGAAYSSA RLLVRGPDEP EEKPASDVHE
QLVPPRMLER FTPKKVKKGS SITFSVKVEG RPVPTVHWLR EEAERGVLWI GPDTPGYTVA
SSAQQHSLVL LDVGRQHQGT YTCIASNAAG QALCSASLHV SGLPKVEEQE KVKEALISTF
LQGTTQAISA QGLETASFAD LGGQRKEEPL AAKEALGHLS LAEVGTEEFL QKLTSQITEM
VSAKITQAKL QVPGGDSDED SKTPSASPRH GRSRPSSSIQ ESSSESEDGD ARGEIFDIYV
VTADYLPLGA EQDAITLREG QYVEVLDAAH PLRWLVRTKP TKSSPSRQGW VSPAYLDRRL
KLSPEWGAAE APEFPGEAVS EDEYKARLSS VIQELLSSEQ AFVEELQFLQ SHHLQHLERC
PHVPIAVAGQ KAVIFRNVRD IGRFHSSFLQ ELQQCDTDDD VAMCFIKNQA AFEQYLEFLV
GRVQAESVVV STAIQEFYKK YAEEALLAGD PSQPPPPPLQ HYLEQPVERV QRYQALLKEL
IRNKARNRQN CALLEQAYAV VSALPQRAEN KLHVSLMENY PGTLQALGEP IRQGHFIVWE
GAPGARMPWK GHNRHVFLFR NHLVICKPRR DSRTDTVSYV FRNMMKLSSI DLNDQVEGDD
RAFEVWQERE DSVRKYLLQA RTAIIKSSWV KEICGIQQRL ALPVWRPPDF EEELADCTAE
LGETVKLACR VTGTPKPVIS WYKDGKAVQV DPHHILIEDP DGSCALILDS LTGVDSGQYM
CFAASAAGNC STLGKILVQV PPRFVNKVRA SPFVEGEDAQ FTCTIEGAPY PQIRWYKDGA
LLTTGNKFQT LSEPRSGLLV LVIRAASKED LGLYECELVN RLGSARASAE LRIQSPMLQA
QEQCHREQLV AAVEDTTLER ADQEVTSVLK RLLGPKAPGP STGDLTGPGP CPRGAPALQE
TGSQPPVTGT SEAPAVPPRV PQPLLHEGPE QEPEAIARAQ EWTVPIRMEG AAWPGAGTGE
LLWDVHSHVV RETTQRTYTY QAIDTHTARP PSMQVTIEDV QAQTGGTAQF EAIIEGDPQP
SVTWYKDSVQ LVDSTRLSQQ QEGTTYSLVL RHVASKDAGV YTCLAQNTGG QVLCKAELLV
LGGDNEPDSE KQSHRRKLHS FYEVKEEIGR GVFGFVKRVQ HKGNKILCAA KFIPLRSRTR
AQAYRERDIL AALSHPLVTG LLDQFETRKT LILILELCSS EELLDRLYRK GVVTEAEVKV
YIQQLVEGLH YLHSHGVLHL DIKPSNILMV HPAREDIKIC DFGFAQNITP AELQFSQYGS
PEFVSPEIIQ QNPVSEASDI WAMGVISYLS LTCSSPFAGE SDRATLLNVL EGRVSWSSPM
AAHLSEDAKD FIKATLQRAP QARPSAAQCL SHPWFLKSMP AEEAHFINTK QLKFLLARSR
WQRSLMSYKS ILVMRSIPEL LRGPPDSPSL GVARHLCRDT GGSSSSSSSS DNELAPFARA
KSLPPSPVTH SPLLHPRGFL RPSASLPEEA EASERSTEAP APPASPEGAG PPAAQGCVPR
HSVIRSLFYH QAGESPEHGA LAPGSRRHPA RRRHLLKGGY IAGALPGLRE PLMEHRVLEE
EAAREEQATL LAKAPSFETA LRLPASGTHL APGHSHSLEH DSPSTPRPSS EACGEAQRLP
SAPSGGAPIR DMGHPQGSKQ LPSTGGHPGT AQPERPSPDS PWGQPAPFCH PKQGSAPQEG
CSPHPAVAPC PPGSFPPGSC KEAPLVPSSP FLGQPQAPPA PAKASPPLDS KMGPGDISLP
GRPKPGPCSS PGSASQASSS QVSSLRVGSS QVGTEPGPSL DAEGWTQEAE DLSDSTPTLQ
RPQEQATMRK FSLGGRGGYA GVAGYGTFAF GGDAGGMLGQ GPMWARIAWA VSQSEEEEQE
EARAESQSEE QQEARAESPL PQVSARPVPE VGRAPTRSSP EPTPWEDIGQ VSLVQIRDLS
GDAEAADTIS LDISEVDPAY LNLSDLYDIK YLPFEFMIFR KVPKSAQPEP PSPMAEEELA
EFPEPTWPWP GELGPHAGLE ITEESEDVDA LLAEAAVGRK RKWSSPSRSL FHFPGRHLPL
DEPAELGLRE RVKASVEHIS RILKGRPEGL EKEGPPRKKP GLASFRLSGL KSWDRAPTFL
RELSDETVVL GQSVTLACQV SAQPAAQATW SKDGAPLESS SRVLISATLK NFQLLTILVV
VAEDLGVYTC SVSNALGTVT TTGVLRKAER PSSSPCPDIG EVYADGVLLV WKPVESYGPV
TYIVQCSLEG GSWTTLASDI FDCCYLTSKL SRGGTYTFRT ACVSKAGMGP YSSPSEQVLL
GGPSHLASEE ESQGRSAQPL PSTKTFAFQT QIQRGRFSVV RQCWEKASGR ALAAKIIPYH
PKDKTAVLRE YEALKGLRHP HLAQLHAAYL SPRHLVLILE LCSGPELLPC LAERASYSES
EVKDYLWQML SATQYLHNQH ILHLDLRSEN MIITEYNLLK VVDLGNAQSL SQEKVLPSDK
FKDYLETMAP ELLEGQGAVP QTDIWAIGVT AFIMLSAEYP VSSEGARDLQ RGLRKGLVRL
SRCYAGLSGG AVAFLRSTLC AQPWGRPCAS SCLQCPWLTE EGPACSRPAP VTFPTARLRV
FVRNREKRRA LLYKRHNLAQ VR*

speed

0.62 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999998328017291 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr1:228509427A>GN/A show variant in all transcripts IGV

HGNC symbol

OBSCN

Ensembl transcript ID

ENST00000366709

Genbank transcript ID

N/A

UniProt peptide

Q5VST9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.6242A>G
cDNA.14929A>G
g.113597A>G

AA changes

D2081G Score: 94 explain score(s)

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

2081

frameshift

known variant

Reference ID: rs373610

database	homozygous (G/G)	heterozygous	allele carriers
1000G	1226	977	2203
ExAC	28901	-25035	3866

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.599	0.96
	0.225	0.118
(flanking)	-0.135	0.019

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	113590	wt: 0.9539 / mu: 0.9699 (marginal change - not scored)	wt: CCTGCTCTCTGCTGATCACTGGCCTGGACCGTGCTGATGCT mu: CCTGCTCTCTGCTGATCACTGGCCTGGGCCGTGCTGATGCT	actg\|GCCT
Acc marginally increased	113587	wt: 0.8180 / mu: 0.8378 (marginal change - not scored)	wt: GCACCTGCTCTCTGCTGATCACTGGCCTGGACCGTGCTGAT mu: GCACCTGCTCTCTGCTGATCACTGGCCTGGGCCGTGCTGAT	atca\|CTGG

distance from splice site

383

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

2081

mutated

not conserved

2081

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000023096

1960

Fcatus

not conserved

ENSFCAG00000000673

4959

Mmusculus

not conserved

ENSMUSG00000061462

5191

Ggallus

all identical

ENSGALG00000004754

4968

Trubripes

no homologue

Drerio

no alignment

ENSDARG00000043309

n/a

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
2077	2162	DOMAIN	Ig-like 21.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

11220 / 11220

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

3740 / 3740

position of stopcodon in wt / mu cDNA

19907 / 19907

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

8688 / 8688

chromosome

strand

last intron/exon boundary

18749

theoretical NMD boundary in CDS

10011

length of CDS

11220

coding sequence (CDS) position

6242

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

14929

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

113597

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

228509427

original gDNA sequence snippet

TCTGCTGATCACTGGCCTGGACCGTGCTGATGCTGGCTGCT

altered gDNA sequence snippet

TCTGCTGATCACTGGCCTGGGCCGTGCTGATGCTGGCTGCT

original cDNA sequence snippet

TCTGCTGATCACTGGCCTGGACCGTGCTGATGCTGGCTGCT

altered cDNA sequence snippet

TCTGCTGATCACTGGCCTGGGCCGTGCTGATGCTGGCTGCT

wildtype AA sequence

mutated AA sequence

speed

0.64 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems