Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
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 7 transcript(s)...
Querying Taster for transcript #1: ENST00000375254
Querying Taster for transcript #2: ENST00000375224
Querying Taster for transcript #3: ENST00000375267
Querying Taster for transcript #4: ENST00000375217
Querying Taster for transcript #5: ENST00000375226
Querying Taster for transcript #6: ENST00000543981
Querying Taster for transcript #7: ENST00000429347
MT speed 0 s - this script 6.374256 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
UBR4polymorphism_automatic0.249241466586954simple_aaeaffectedM4867Lsingle base exchangers12584show file
UBR4polymorphism_automatic0.249241466586954simple_aaeaffectedM4867Lsingle base exchangers12584show file
UBR4polymorphism_automatic0.249241466586954simple_aaeaffectedM574Lsingle base exchangers12584show file
UBR4polymorphism_automatic0.249241466586954simple_aaeaffectedM4860Lsingle base exchangers12584show file
UBR4polymorphism_automatic0.249241466586954simple_aaeaffectedM4843Lsingle base exchangers12584show file
UBR4polymorphism_automatic0.249241466586954simple_aaeaffectedM531Lsingle base exchangers12584show file
UBR4polymorphism_automatic0.249241466586954simple_aaeaffectedM390Lsingle base exchangers12584show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.750758533413046 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:19413261T>AN/A show variant in all transcripts   IGV
HGNC symbol UBR4
Ensembl transcript ID ENST00000375254
Genbank transcript ID NM_020765
UniProt peptide Q5T4S7
alteration type single base exchange
alteration region CDS
DNA changes c.14599A>T
cDNA.14627A>T
g.123510A>T
AA changes M4867L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 4867
frameshift no
known variant Reference ID: rs12584
databasehomozygous (A/A)heterozygousallele carriers
1000G93611402076
ExAC21187-960711580
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.4681
0.3220.999
(flanking)1.3171
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased123503wt: 0.73 / mu: 0.92wt: GCCTTGGAGGAGATG
mu: GCCTTGGAGGAGTTG		 CTTG|gagg
distance from splice site 55
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      4867YTFTKRVALEEMENKPRKQQGYST
mutated  all conserved    4867RVALEELENKPRKQQGYS
Ptroglodytes  all identical  ENSPTRG00000000257  4867RVALEEMENKPRKQQGYS
Mmulatta  all identical  ENSMMUG00000006669  4140MENKPRKQQGYS
Fcatus  all identical  ENSFCAG00000008769  4805YTFTKRVALEEMENKPRKQQGYS
Mmusculus  all identical  ENSMUSG00000066036  4864RVALEEMENKPRKQQGYS
Ggallus  not conserved  ENSGALG00000003910  4885YTFTKRVALEEFENKPRKQQGYS
Trubripes  not conserved  ENSTRUG00000015441  4854YTFTKRVFLEDFENKPRKQQGYS
Drerio  not conserved  ENSDARG00000009549  4836EFENKPRKQQGYS
Dmelanogaster  not conserved  FBgn0011230  4995YTFTKRCNVEEFELKSRKTIGYT
Celegans  not conserved  C44E4.1  2449YAF---AAIDPDSGKT------S
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 15552 / 15552
position (AA) of stopcodon in wt / mu AA sequence 5184 / 5184
position of stopcodon in wt / mu cDNA 15580 / 15580
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 29 / 29
chromosome 1
strand -1
last intron/exon boundary 15516
theoretical NMD boundary in CDS 15437
length of CDS 15552
coding sequence (CDS) position 14599
cDNA position
(for ins/del: last normal base / first normal base)		 14627
gDNA position
(for ins/del: last normal base / first normal base)		 123510
chromosomal position
(for ins/del: last normal base / first normal base)		 19413261
original gDNA sequence snippet AGCGGGTAGCCTTGGAGGAGATGGAGAATAAGCCCCGGAAA
altered gDNA sequence snippet AGCGGGTAGCCTTGGAGGAGTTGGAGAATAAGCCCCGGAAA
original cDNA sequence snippet AGCGGGTAGCCTTGGAGGAGATGGAGAATAAGCCCCGGAAA
altered cDNA sequence snippet AGCGGGTAGCCTTGGAGGAGTTGGAGAATAAGCCCCGGAAA
wildtype AA sequence MATSGGEEAA AAAPAPGTPA TGADTTPGWE VAVRPLLSAS YSAFEMKELP QLVASVIESE
SEILHHEKQY EPFYSSFVAL STHYITTVCS LIPRNQLQSV AAACKVLIEF SLLRLENPDE
ACAVSQKHLI LLIKGLCTGC SRLDRTEIIT FTAMMKSAKL PQTVKTLSDV EDQKELASPV
SPELRQKEVQ MNFLNQLTSV FNPRTVASQP ISTQTLVEGE NDEQSSTDQA SAIKTKNVFI
AQNVASLQEL GGSEKLLRVC LNLPYFLRYI NRFQDAVLAN SFFIMPATVA DATAVRNGFH
SLVIDVTMAL DTLSLPVLEP LNPSRLQDVT VLSLSCLYAG VSVATCMAIL HVGSAQQVRT
GSTSSKEDDY ESDAATIVQK CLEIYDMIGQ AISSSRRAGG EHYQNFQLLG AWCLLNSLFL
ILNLSPTALA DKGKEKDPLA ALRVRDILSR TKEGVGSPKL GPGKGHQGFG VLSVILANHA
IKLLTSLFQD LQVEALHKGW ETDGPPAALS IMAQSTSIQR IQRLIDSVPL MNLLLTLLST
SYRKACVLQR QRKGSMSSDA SASTDSNTYY EDDFSSTEED SSQDDDSEPI LGQWFEETIS
PSKEKAAPPP PPPPPPLESS PRVKSPSKQA PGEKGNILAS RKDPELFLGL ASNILNFITS
SMLNSRNNFI RNYLSVSLSE HHMATLASII KEVDKDGLKG SSDEEFAAAL YHFNHSLVTS
DLQSPNLQNT LLQQLGVAPF SEGPWPLYIH PQSLSVLSRL LLIWQHKASA QGDPDVPECL
KVWDRFLSTM KQNALQGVVP SETEDLNVEH LQMLLLIFHN FTETGRRAIL SLFVQIIQEL
SVNMDAQMRF VPLILARLLL IFDYLLHQYS KAPVYLFEQV QHNLLSPPFG WASGSQDSNS
RRATTPLYHG FKEVEENWSK HFSSDAVPHP RFYCVLSPEA SEDDLNRLDS VACDVLFSKL
VKYDELYAAL TALLAAGSQL DTVRRKENKN VTALEACALQ YYFLILWRIL GILPPSKTYI
NQLSMNSPEM SECDILHTLR WSSRLRISSY VNWIKDHLIK QGMKAEHASS LLELASTTKC
SSVKYDVEIV EEYFARQISS FCSIDCTTIL QLHEIPSLQS IYTLDAAISK VQVSLDEHFS
KMAAETDPHK SSEITKNLLP ATLQLIDTYA SFTRAYLLQN FNEEGTTEKP SKEKLQGFAA
VLAIGSSRCK ANTLGPTLVQ NLPSSVQTVC ESWNNINTNE FPNIGSWRNA FANDTIPSES
YISAVQAAHL GTLCSQSLPL AASLKHTLLS LVRLTGDLIV WSDEMNPPQV IRTLLPLLLE
SSTESVAEIS SNSLERILGP AESDEFLARV YEKLITGCYN ILANHADPNS GLDESILEEC
LQYLEKQLES SQARKAMEEF FSDSGELVQI MMATANENLS AKFCNRVLKF FTKLFQLTEK
SPNPSLLHLC GSLAQLACVE PVRLQAWLTR MTTSPPKDSD QLDVIQENRQ LLQLLTTYIV
RENSQVGEGV CAVLLGTLTP MATEMLANGD GTGFPELMVV MATLASAGQG AGHLQLHNAA
VDWLSRCKKY LSQKNVVEKL NANVMHGKHV MILECTCHIM SYLADVTNAL SQSNGQGPSH
LSVDGEERAI EVDSDWVEEL AVEEEDSQAE DSDEDSLCNK LCTFTITQKE FMNQHWYHCH
TCKMVDGVGV CTVCAKVCHK DHEISYAKYG SFFCDCGAKE DGSCLALVKR TPSSGMSSTM
KESAFQSEPR ISESLVRHAS TSSPADKAKV TISDGKVADE EKPKKSSLCR TVEGCREELQ
NQANFSFAPL VLDMLNFLMD AIQTNFQQAS AVGSSSRAQQ ALSELHTVEK AVEMTDQLMV
PTLGSQEGAF ENVRMNYSGD QGQTIRQLIS AHVLRRVAMC VLSSPHGRRQ HLAVSHEKGK
ITVLQLSALL KQADSSKRKL TLTRLASAPV PFTVLSLTGN PCKEDYLAVC GLKDCHVLTF
SSSGSVSDHL VLHPQLATGN FIIKAVWLPG SQTELAIVTA DFVKIYDLCV DALSPTFYFL
LPSSKIRDVT FLFNEEGKNI IVIMSSAGYI YTQLMEEASS AQQGPFYVTN VLEINHEDLK
DSNSQVAGGG VSVYYSHVLQ MLFFSYCQGK SFAATISRTT LEVLQLFPIN IKSSNGGSKT
SPALCQWSEV MNHPGLVCCV QQTTGVPLVV MVKPDTFLIQ EIKTLPAKAK IQDMVAIRHT
ACNEQQRTTM ILLCEDGSLR IYMANVENTS YWLQPSLQPS SVISIMKPVR KRKTATITTR
TSSQVTFPID FFEHNQQLTD VEFGGNDLLQ VYNAQQIKHR LNSTGMYVAN TKPGGFTIEI
SNNNSTMVMT GMRIQIGTQA IERAPSYIEI FGRTMQLNLS RSRWFDFPFT REEALQADKK
LNLFIGASVD PAGVTMIDAV KIYGKTKEQF GWPDEPPEEF PSASVSNICP SNLNQSNGTG
DSDSAAPTTT SGTVLERLVV SSLEALESCF AVGPIIEKER NKNAAQELAT LLLSLPAPAS
VQQQSKSLLA SLHTSRSAYH SHKDQALLSK AVQCLNTSSK EGKDLDPEVF QRLVITARSI
AIMRPNNLVH FTESKLPQME TEGMDEGKEP QKQLEGDCCS FITQLVNHFW KLHASKPKNA
FLAPACLPGL THIEATVNAL VDIIHGYCTC ELDCINTASK IYMQMLLCPD PAVSFSCKQA
LIRVLRPRNK RRHVTLPSSP RSNTPMGDKD DDDDDDADEK MQSSGIPNGG HIRQESQEQS
EVDHGDFEMV SESMVLETAE NVNNGNPSPL EALLAGAEGF PPMLDIPPDA DDETMVELAI
ALSLQQDQQG SSSSALGLQS LGLSGQAPSS SSLDAGTLSD TTASAPASDD EGSTAATDGS
TLRTSPADHG GSVGSESGGS AVDSVAGEHS VSGRSSAYGD ATAEGHPAGP GSVSSSTGAI
STTTGHQEGD GSEGEGEGET EGDVHTSNRL HMVRLMLLER LLQTLPQLRN VGGVRAIPYM
QVILMLTTDL DGEDEKDKGA LDNLLSQLIA ELGMDKKDVS KKNERSALNE VHLVVMRLLS
VFMSRTKSGS KSSICESSSL ISSATAAALL SSGAVDYCLH VLKSLLEYWK SQQNDEEPVA
TSQLLKPHTT SSPPDMSPFF LRQYVKGHAA DVFEAYTQLL TEMVLRLPYQ IKKITDTNSR
IPPPVFDHSW FYFLSEYLMI QQTPFVRRQV RKLLLFICGS KEKYRQLRDL HTLDSHVRGI
KKLLEEQGIF LRASVVTASS GSALQYDTLI SLMEHLKACA EIAAQRTINW QKFCIKDDSV
LYFLLQVSFL VDEGVSPVLL QLLSCALCGS KVLAALAASS GSSSASSSSA PVAASSGQAT
TQSKSSTKKS KKEEKEKEKD GETSGSQEDQ LCTALVNQLN KFADKETLIQ FLRCFLLESN
SSSVRWQAHC LTLHIYRNSS KSQQELLLDL MWSIWPELPA YGRKAAQFVD LLGYFSLKTP
QTEKKLKEYS QKAVEILRTQ NHILTNHPNS NIYNTLSGLV EFDGYYLESD PCLVCNNPEV
PFCYIKLSSI KVDTRYTTTQ QVVKLIGSHT ISKVTVKIGD LKRTKMVRTI NLYYNNRTVQ
AIVELKNKPA RWHKAKKVQL TPGQTEVKID LPLPIVASNL MIEFADFYEN YQASTETLQC
PRCSASVPAN PGVCGNCGEN VYQCHKCRSI NYDEKDPFLC NACGFCKYAR FDFMLYAKPC
CAVDPIENEE DRKKAVSNIN TLLDKADRVY HQLMGHRPQL ENLLCKVNEA APEKPQDDSG
TAGGISSTSA SVNRYILQLA QEYCGDCKNS FDELSKIIQK VFASRKELLE YDLQQREAAT
KSSRTSVQPT FTASQYRALS VLGCGHTSST KCYGCASAVT EHCITLLRAL ATNPALRHIL
VSQGLIRELF DYNLRRGAAA MREEVRQLMC LLTRDNPEAT QQMNDLIIGK VSTALKGHWA
NPDLASSLQY EMLLLTDSIS KEDSCWELRL RCALSLFLMA VNIKTPVVVE NITLMCLRIL
QKLIKPPAPT SKKNKDVPVE ALTTVKPYCN EIHAQAQLWL KRDPKASYDA WKKCLPIRGI
DGNGKAPSKS ELRHLYLTEK YVWRWKQFLS RRGKRTSPLD LKLGHNNWLR QVLFTPATQA
ARQAACTIVE ALATIPSRKQ QVLDLLTSYL DELSIAGECA AEYLALYQKL ITSAHWKVYL
AARGVLPYVG NLITKEIARL LALEEATLST DLQQGYALKS LTGLLSSFVE VESIKRHFKS
RLVGTVLNGY LCLRKLVVQR TKLIDETQDM LLEMLEDMTT GTESETKAFM AVCIETAKRY
NLDDYRTPVF IFERLCSIIY PEENEVTEFF VTLEKDPQQE DFLQGRMPGN PYSSNEPGIG
PLMRDIKNKI CQDCDLVALL EDDSGMELLV NNKIISLDLP VAEVYKKVWC TTNEGEPMRI
VYRMRGLLGD ATEEFIESLD STTDEEEDEE EVYKMAGVMA QCGGLECMLN RLAGIRDFKQ
GRHLLTVLLK LFSYCVKVKV NRQQLVKLEM NTLNVMLGTL NLALVAEQES KDSGGAAVAE
QVLSIMEIIL DESNAEPLSE DKGNLLLTGD KDQLVMLLDQ INSTFVRSNP SVLQGLLRII
PYLSFGEVEK MQILVERFKP YCNFDKYDED HSGDDKVFLD CFCKIAAGIK NNSNGHQLKD
LILQKGITQN ALDYMKKHIP SAKNLDADIW KKFLSRPALP FILRLLRGLA IQHPGTQVLI
GTDSIPNLHK LEQVSSDEGI GTLAENLLEA LREHPDVNKK IDAARRETRA EKKRMAMAMR
QKALGTLGMT TNEKGQVVTK TALLKQMEEL IEEPGLTCCI CREGYKFQPT KVLGIYTFTK
RVALEEMENK PRKQQGYSTV SHFNIVHYDC HLAAVRLARG REEWESAALQ NANTKCNGLL
PVWGPHVPES AFATCLARHN TYLQECTGQR EPTYQLNIHD IKLLFLRFAM EQSFSADTGG
GGRESNIHLI PYIIHTVLYV LNTTRATSRE EKNLQGFLEQ PKEKWVESAF EVDGPYYFTV
LALHILPPEQ WRATRVEILR RLLVTSQARA VAPGGATRLT DKAVKDYSAY RSSLLFWALV
DLIYNMFKKV PTSNTEGGWS CSLAEYIRHN DMPIYEAADK ALKTFQEEFM PVETFSEFLD
VAGLLSEITD PESFLKDLLN SVP*
mutated AA sequence MATSGGEEAA AAAPAPGTPA TGADTTPGWE VAVRPLLSAS YSAFEMKELP QLVASVIESE
SEILHHEKQY EPFYSSFVAL STHYITTVCS LIPRNQLQSV AAACKVLIEF SLLRLENPDE
ACAVSQKHLI LLIKGLCTGC SRLDRTEIIT FTAMMKSAKL PQTVKTLSDV EDQKELASPV
SPELRQKEVQ MNFLNQLTSV FNPRTVASQP ISTQTLVEGE NDEQSSTDQA SAIKTKNVFI
AQNVASLQEL GGSEKLLRVC LNLPYFLRYI NRFQDAVLAN SFFIMPATVA DATAVRNGFH
SLVIDVTMAL DTLSLPVLEP LNPSRLQDVT VLSLSCLYAG VSVATCMAIL HVGSAQQVRT
GSTSSKEDDY ESDAATIVQK CLEIYDMIGQ AISSSRRAGG EHYQNFQLLG AWCLLNSLFL
ILNLSPTALA DKGKEKDPLA ALRVRDILSR TKEGVGSPKL GPGKGHQGFG VLSVILANHA
IKLLTSLFQD LQVEALHKGW ETDGPPAALS IMAQSTSIQR IQRLIDSVPL MNLLLTLLST
SYRKACVLQR QRKGSMSSDA SASTDSNTYY EDDFSSTEED SSQDDDSEPI LGQWFEETIS
PSKEKAAPPP PPPPPPLESS PRVKSPSKQA PGEKGNILAS RKDPELFLGL ASNILNFITS
SMLNSRNNFI RNYLSVSLSE HHMATLASII KEVDKDGLKG SSDEEFAAAL YHFNHSLVTS
DLQSPNLQNT LLQQLGVAPF SEGPWPLYIH PQSLSVLSRL LLIWQHKASA QGDPDVPECL
KVWDRFLSTM KQNALQGVVP SETEDLNVEH LQMLLLIFHN FTETGRRAIL SLFVQIIQEL
SVNMDAQMRF VPLILARLLL IFDYLLHQYS KAPVYLFEQV QHNLLSPPFG WASGSQDSNS
RRATTPLYHG FKEVEENWSK HFSSDAVPHP RFYCVLSPEA SEDDLNRLDS VACDVLFSKL
VKYDELYAAL TALLAAGSQL DTVRRKENKN VTALEACALQ YYFLILWRIL GILPPSKTYI
NQLSMNSPEM SECDILHTLR WSSRLRISSY VNWIKDHLIK QGMKAEHASS LLELASTTKC
SSVKYDVEIV EEYFARQISS FCSIDCTTIL QLHEIPSLQS IYTLDAAISK VQVSLDEHFS
KMAAETDPHK SSEITKNLLP ATLQLIDTYA SFTRAYLLQN FNEEGTTEKP SKEKLQGFAA
VLAIGSSRCK ANTLGPTLVQ NLPSSVQTVC ESWNNINTNE FPNIGSWRNA FANDTIPSES
YISAVQAAHL GTLCSQSLPL AASLKHTLLS LVRLTGDLIV WSDEMNPPQV IRTLLPLLLE
SSTESVAEIS SNSLERILGP AESDEFLARV YEKLITGCYN ILANHADPNS GLDESILEEC
LQYLEKQLES SQARKAMEEF FSDSGELVQI MMATANENLS AKFCNRVLKF FTKLFQLTEK
SPNPSLLHLC GSLAQLACVE PVRLQAWLTR MTTSPPKDSD QLDVIQENRQ LLQLLTTYIV
RENSQVGEGV CAVLLGTLTP MATEMLANGD GTGFPELMVV MATLASAGQG AGHLQLHNAA
VDWLSRCKKY LSQKNVVEKL NANVMHGKHV MILECTCHIM SYLADVTNAL SQSNGQGPSH
LSVDGEERAI EVDSDWVEEL AVEEEDSQAE DSDEDSLCNK LCTFTITQKE FMNQHWYHCH
TCKMVDGVGV CTVCAKVCHK DHEISYAKYG SFFCDCGAKE DGSCLALVKR TPSSGMSSTM
KESAFQSEPR ISESLVRHAS TSSPADKAKV TISDGKVADE EKPKKSSLCR TVEGCREELQ
NQANFSFAPL VLDMLNFLMD AIQTNFQQAS AVGSSSRAQQ ALSELHTVEK AVEMTDQLMV
PTLGSQEGAF ENVRMNYSGD QGQTIRQLIS AHVLRRVAMC VLSSPHGRRQ HLAVSHEKGK
ITVLQLSALL KQADSSKRKL TLTRLASAPV PFTVLSLTGN PCKEDYLAVC GLKDCHVLTF
SSSGSVSDHL VLHPQLATGN FIIKAVWLPG SQTELAIVTA DFVKIYDLCV DALSPTFYFL
LPSSKIRDVT FLFNEEGKNI IVIMSSAGYI YTQLMEEASS AQQGPFYVTN VLEINHEDLK
DSNSQVAGGG VSVYYSHVLQ MLFFSYCQGK SFAATISRTT LEVLQLFPIN IKSSNGGSKT
SPALCQWSEV MNHPGLVCCV QQTTGVPLVV MVKPDTFLIQ EIKTLPAKAK IQDMVAIRHT
ACNEQQRTTM ILLCEDGSLR IYMANVENTS YWLQPSLQPS SVISIMKPVR KRKTATITTR
TSSQVTFPID FFEHNQQLTD VEFGGNDLLQ VYNAQQIKHR LNSTGMYVAN TKPGGFTIEI
SNNNSTMVMT GMRIQIGTQA IERAPSYIEI FGRTMQLNLS RSRWFDFPFT REEALQADKK
LNLFIGASVD PAGVTMIDAV KIYGKTKEQF GWPDEPPEEF PSASVSNICP SNLNQSNGTG
DSDSAAPTTT SGTVLERLVV SSLEALESCF AVGPIIEKER NKNAAQELAT LLLSLPAPAS
VQQQSKSLLA SLHTSRSAYH SHKDQALLSK AVQCLNTSSK EGKDLDPEVF QRLVITARSI
AIMRPNNLVH FTESKLPQME TEGMDEGKEP QKQLEGDCCS FITQLVNHFW KLHASKPKNA
FLAPACLPGL THIEATVNAL VDIIHGYCTC ELDCINTASK IYMQMLLCPD PAVSFSCKQA
LIRVLRPRNK RRHVTLPSSP RSNTPMGDKD DDDDDDADEK MQSSGIPNGG HIRQESQEQS
EVDHGDFEMV SESMVLETAE NVNNGNPSPL EALLAGAEGF PPMLDIPPDA DDETMVELAI
ALSLQQDQQG SSSSALGLQS LGLSGQAPSS SSLDAGTLSD TTASAPASDD EGSTAATDGS
TLRTSPADHG GSVGSESGGS AVDSVAGEHS VSGRSSAYGD ATAEGHPAGP GSVSSSTGAI
STTTGHQEGD GSEGEGEGET EGDVHTSNRL HMVRLMLLER LLQTLPQLRN VGGVRAIPYM
QVILMLTTDL DGEDEKDKGA LDNLLSQLIA ELGMDKKDVS KKNERSALNE VHLVVMRLLS
VFMSRTKSGS KSSICESSSL ISSATAAALL SSGAVDYCLH VLKSLLEYWK SQQNDEEPVA
TSQLLKPHTT SSPPDMSPFF LRQYVKGHAA DVFEAYTQLL TEMVLRLPYQ IKKITDTNSR
IPPPVFDHSW FYFLSEYLMI QQTPFVRRQV RKLLLFICGS KEKYRQLRDL HTLDSHVRGI
KKLLEEQGIF LRASVVTASS GSALQYDTLI SLMEHLKACA EIAAQRTINW QKFCIKDDSV
LYFLLQVSFL VDEGVSPVLL QLLSCALCGS KVLAALAASS GSSSASSSSA PVAASSGQAT
TQSKSSTKKS KKEEKEKEKD GETSGSQEDQ LCTALVNQLN KFADKETLIQ FLRCFLLESN
SSSVRWQAHC LTLHIYRNSS KSQQELLLDL MWSIWPELPA YGRKAAQFVD LLGYFSLKTP
QTEKKLKEYS QKAVEILRTQ NHILTNHPNS NIYNTLSGLV EFDGYYLESD PCLVCNNPEV
PFCYIKLSSI KVDTRYTTTQ QVVKLIGSHT ISKVTVKIGD LKRTKMVRTI NLYYNNRTVQ
AIVELKNKPA RWHKAKKVQL TPGQTEVKID LPLPIVASNL MIEFADFYEN YQASTETLQC
PRCSASVPAN PGVCGNCGEN VYQCHKCRSI NYDEKDPFLC NACGFCKYAR FDFMLYAKPC
CAVDPIENEE DRKKAVSNIN TLLDKADRVY HQLMGHRPQL ENLLCKVNEA APEKPQDDSG
TAGGISSTSA SVNRYILQLA QEYCGDCKNS FDELSKIIQK VFASRKELLE YDLQQREAAT
KSSRTSVQPT FTASQYRALS VLGCGHTSST KCYGCASAVT EHCITLLRAL ATNPALRHIL
VSQGLIRELF DYNLRRGAAA MREEVRQLMC LLTRDNPEAT QQMNDLIIGK VSTALKGHWA
NPDLASSLQY EMLLLTDSIS KEDSCWELRL RCALSLFLMA VNIKTPVVVE NITLMCLRIL
QKLIKPPAPT SKKNKDVPVE ALTTVKPYCN EIHAQAQLWL KRDPKASYDA WKKCLPIRGI
DGNGKAPSKS ELRHLYLTEK YVWRWKQFLS RRGKRTSPLD LKLGHNNWLR QVLFTPATQA
ARQAACTIVE ALATIPSRKQ QVLDLLTSYL DELSIAGECA AEYLALYQKL ITSAHWKVYL
AARGVLPYVG NLITKEIARL LALEEATLST DLQQGYALKS LTGLLSSFVE VESIKRHFKS
RLVGTVLNGY LCLRKLVVQR TKLIDETQDM LLEMLEDMTT GTESETKAFM AVCIETAKRY
NLDDYRTPVF IFERLCSIIY PEENEVTEFF VTLEKDPQQE DFLQGRMPGN PYSSNEPGIG
PLMRDIKNKI CQDCDLVALL EDDSGMELLV NNKIISLDLP VAEVYKKVWC TTNEGEPMRI
VYRMRGLLGD ATEEFIESLD STTDEEEDEE EVYKMAGVMA QCGGLECMLN RLAGIRDFKQ
GRHLLTVLLK LFSYCVKVKV NRQQLVKLEM NTLNVMLGTL NLALVAEQES KDSGGAAVAE
QVLSIMEIIL DESNAEPLSE DKGNLLLTGD KDQLVMLLDQ INSTFVRSNP SVLQGLLRII
PYLSFGEVEK MQILVERFKP YCNFDKYDED HSGDDKVFLD CFCKIAAGIK NNSNGHQLKD
LILQKGITQN ALDYMKKHIP SAKNLDADIW KKFLSRPALP FILRLLRGLA IQHPGTQVLI
GTDSIPNLHK LEQVSSDEGI GTLAENLLEA LREHPDVNKK IDAARRETRA EKKRMAMAMR
QKALGTLGMT TNEKGQVVTK TALLKQMEEL IEEPGLTCCI CREGYKFQPT KVLGIYTFTK
RVALEELENK PRKQQGYSTV SHFNIVHYDC HLAAVRLARG REEWESAALQ NANTKCNGLL
PVWGPHVPES AFATCLARHN TYLQECTGQR EPTYQLNIHD IKLLFLRFAM EQSFSADTGG
GGRESNIHLI PYIIHTVLYV LNTTRATSRE EKNLQGFLEQ PKEKWVESAF EVDGPYYFTV
LALHILPPEQ WRATRVEILR RLLVTSQARA VAPGGATRLT DKAVKDYSAY RSSLLFWALV
DLIYNMFKKV PTSNTEGGWS CSLAEYIRHN DMPIYEAADK ALKTFQEEFM PVETFSEFLD
VAGLLSEITD PESFLKDLLN SVP*
speed 0.91 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.750758533413046 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:19413261T>AN/A show variant in all transcripts   IGV
HGNC symbol UBR4
Ensembl transcript ID ENST00000375267
Genbank transcript ID N/A
UniProt peptide Q5T4S7
alteration type single base exchange
alteration region CDS
DNA changes c.14599A>T
cDNA.14603A>T
g.123510A>T
AA changes M4867L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 4867
frameshift no
known variant Reference ID: rs12584
databasehomozygous (A/A)heterozygousallele carriers
1000G93611402076
ExAC21187-960711580
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.4681
0.3220.999
(flanking)1.3171
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased123503wt: 0.73 / mu: 0.92wt: GCCTTGGAGGAGATG
mu: GCCTTGGAGGAGTTG		 CTTG|gagg
distance from splice site 55
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      4867YTFTKRVALEEMENKPRKQQGYST
mutated  all conserved    4867RVALEELENKPRKQQGYS
Ptroglodytes  all identical  ENSPTRG00000000257  4867RVALEEMENKPRKQQGYS
Mmulatta  all identical  ENSMMUG00000006669  4140MENKPRKQQGYS
Fcatus  all identical  ENSFCAG00000008769  4805YTFTKRVALEEMENKPRKQQGYS
Mmusculus  all identical  ENSMUSG00000066036  4864RVALEEMENKPRKQQGYS
Ggallus  not conserved  ENSGALG00000003910  4885YTFTKRVALEEFENKPRKQQGYS
Trubripes  not conserved  ENSTRUG00000015441  4854YTFTKRVFLEDFENKPRKQQGYS
Drerio  not conserved  ENSDARG00000009549  4836EFENKPRKQQGYS
Dmelanogaster  not conserved  FBgn0011230  4995YTFTKRCNVEEFELKSRKTIGYT
Celegans  not conserved  C44E4.1  2449YAF---AAIDPDSGKT------S
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 15615 / 15615
position (AA) of stopcodon in wt / mu AA sequence 5205 / 5205
position of stopcodon in wt / mu cDNA 15619 / 15619
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 5 / 5
chromosome 1
strand -1
last intron/exon boundary 15555
theoretical NMD boundary in CDS 15500
length of CDS 15615
coding sequence (CDS) position 14599
cDNA position
(for ins/del: last normal base / first normal base)		 14603
gDNA position
(for ins/del: last normal base / first normal base)		 123510
chromosomal position
(for ins/del: last normal base / first normal base)		 19413261
original gDNA sequence snippet AGCGGGTAGCCTTGGAGGAGATGGAGAATAAGCCCCGGAAA
altered gDNA sequence snippet AGCGGGTAGCCTTGGAGGAGTTGGAGAATAAGCCCCGGAAA
original cDNA sequence snippet AGCGGGTAGCCTTGGAGGAGATGGAGAATAAGCCCCGGAAA
altered cDNA sequence snippet AGCGGGTAGCCTTGGAGGAGTTGGAGAATAAGCCCCGGAAA
wildtype AA sequence MATSGGEEAA AAAPAPGTPA TGADTTPGWE VAVRPLLSAS YSAFEMKELP QLVASVIESE
SEILHHEKQY EPFYSSFVAL STHYITTVCS LIPRNQLQSV AAACKVLIEF SLLRLENPDE
ACAVSQKHLI LLIKGLCTGC SRLDRTEIIT FTAMMKSAKL PQTVKTLSDV EDQKELASPV
SPELRQKEVQ MNFLNQLTSV FNPRTVASQP ISTQTLVEGE NDEQSSTDQA SAIKTKNVFI
AQNVASLQEL GGSEKLLRVC LNLPYFLRYI NRFQDAVLAN SFFIMPATVA DATAVRNGFH
SLVIDVTMAL DTLSLPVLEP LNPSRLQDVT VLSLSCLYAG VSVATCMAIL HVGSAQQVRT
GSTSSKEDDY ESDAATIVQK CLEIYDMIGQ AISSSRRAGG EHYQNFQLLG AWCLLNSLFL
ILNLSPTALA DKGKEKDPLA ALRVRDILSR TKEGVGSPKL GPGKGHQGFG VLSVILANHA
IKLLTSLFQD LQVEALHKGW ETDGPPAALS IMAQSTSIQR IQRLIDSVPL MNLLLTLLST
SYRKACVLQR QRKGSMSSDA SASTDSNTYY EDDFSSTEED SSQDDDSEPI LGQWFEETIS
PSKEKAAPPP PPPPPPLESS PRVKSPSKQA PGEKGNILAS RKDPELFLGL ASNILNFITS
SMLNSRNNFI RNYLSVSLSE HHMATLASII KEVDKDGLKG SSDEEFAAAL YHFNHSLVTS
DLQSPNLQNT LLQQLGVAPF SEGPWPLYIH PQSLSVLSRL LLIWQHKASA QGDPDVPECL
KVWDRFLSTM KQNALQGVVP SETEDLNVEH LQMLLLIFHN FTETGRRAIL SLFVQIIQEL
SVNMDAQMRF VPLILARLLL IFDYLLHQYS KAPVYLFEQV QHNLLSPPFG WASGSQDSNS
RRATTPLYHG FKEVEENWSK HFSSDAVPHP RFYCVLSPEA SEDDLNRLDS VACDVLFSKL
VKYDELYAAL TALLAAGSQL DTVRRKENKN VTALEACALQ YYFLILWRIL GILPPSKTYI
NQLSMNSPEM SECDILHTLR WSSRLRISSY VNWIKDHLIK QGMKAEHASS LLELASTTKC
SSVKYDVEIV EEYFARQISS FCSIDCTTIL QLHEIPSLQS IYTLDAAISK VQVSLDEHFS
KMAAETDPHK SSEITKNLLP ATLQLIDTYA SFTRAYLLQN FNEEGTTEKP SKEKLQGFAA
VLAIGSSRCK ANTLGPTLVQ NLPSSVQTVC ESWNNINTNE FPNIGSWRNA FANDTIPSES
YISAVQAAHL GTLCSQSLPL AASLKHTLLS LVRLTGDLIV WSDEMNPPQV IRTLLPLLLE
SSTESVAEIS SNSLERILGP AESDEFLARV YEKLITGCYN ILANHADPNS GLDESILEEC
LQYLEKQLES SQARKAMEEF FSDSGELVQI MMATANENLS AKFCNRVLKF FTKLFQLTEK
SPNPSLLHLC GSLAQLACVE PVRLQAWLTR MTTSPPKDSD QLDVIQENRQ LLQLLTTYIV
RENSQVGEGV CAVLLGTLTP MATEMLANGD GTGFPELMVV MATLASAGQG AGHLQLHNAA
VDWLSRCKKY LSQKNVVEKL NANVMHGKHV MILECTCHIM SYLADVTNAL SQSNGQGPSH
LSVDGEERAI EVDSDWVEEL AVEEEDSQAE DSDEDSLCNK LCTFTITQKE FMNQHWYHCH
TCKMVDGVGV CTVCAKVCHK DHEISYAKYG SFFCDCGAKE DGSCLALVKR TPSSGMSSTM
KESAFQSEPR ISESLVRHAS TSSPADKAKV TISDGKVADE EKPKKSSLCR TVEGCREELQ
NQANFSFAPL VLDMLNFLMD AIQTNFQQAS AVGSSSRAQQ ALSELHTVEK AVEMTDQLMV
PTLGSQEGAF ENVRMNYSGD QGQTIRQLIS AHVLRRVAMC VLSSPHGRRQ HLAVSHEKGK
ITVLQLSALL KQADSSKRKL TLTRLASAPV PFTVLSLTGN PCKEDYLAVC GLKDCHVLTF
SSSGSVSDHL VLHPQLATGN FIIKAVWLPG SQTELAIVTA DFVKIYDLCV DALSPTFYFL
LPSSKIRDVT FLFNEEGKNI IVIMSSAGYI YTQLMEEASS AQQGPFYVTN VLEINHEDLK
DSNSQVAGGG VSVYYSHVLQ MLFFSYCQGK SFAATISRTT LEVLQLFPIN IKSSNGGSKT
SPALCQWSEV MNHPGLVCCV QQTTGVPLVV MVKPDTFLIQ EIKTLPAKAK IQDMVAIRHT
ACNEQQRTTM ILLCEDGSLR IYMANVENTS YWLQPSLQPS SVISIMKPVR KRKTATITTR
TSSQVTFPID FFEHNQQLTD VEFGGNDLLQ VYNAQQIKHR LNSTGMYVAN TKPGGFTIEI
SNNNSTMVMT GMRIQIGTQA IERAPSYIEI FGRTMQLNLS RSRWFDFPFT REEALQADKK
LNLFIGASVD PAGVTMIDAV KIYGKTKEQF GWPDEPPEEF PSASVSNICP SNLNQSNGTG
DSDSAAPTTT SGTVLERLVV SSLEALESCF AVGPIIEKER NKNAAQELAT LLLSLPAPAS
VQQQSKSLLA SLHTSRSAYH SHKDQALLSK AVQCLNTSSK EGKDLDPEVF QRLVITARSI
AIMRPNNLVH FTESKLPQME TEGMDEGKEP QKQLEGDCCS FITQLVNHFW KLHASKPKNA
FLAPACLPGL THIEATVNAL VDIIHGYCTC ELDCINTASK IYMQMLLCPD PAVSFSCKQA
LIRVLRPRNK RRHVTLPSSP RSNTPMGDKD DDDDDDADEK MQSSGIPNGG HIRQESQEQS
EVDHGDFEMV SESMVLETAE NVNNGNPSPL EALLAGAEGF PPMLDIPPDA DDETMVELAI
ALSLQQDQQG SSSSALGLQS LGLSGQAPSS SSLDAGTLSD TTASAPASDD EGSTAATDGS
TLRTSPADHG GSVGSESGGS AVDSVAGEHS VSGRSSAYGD ATAEGHPAGP GSVSSSTGAI
STTTGHQEGD GSEGEGEGET EGDVHTSNRL HMVRLMLLER LLQTLPQLRN VGGVRAIPYM
QVILMLTTDL DGEDEKDKGA LDNLLSQLIA ELGMDKKDVS KKNERSALNE VHLVVMRLLS
VFMSRTKSGS KSSICESSSL ISSATAAALL SSGAVDYCLH VLKSLLEYWK SQQNDEEPVA
TSQLLKPHTT SSPPDMSPFF LRQYVKGHAA DVFEAYTQLL TEMVLRLPYQ IKKITDTNSR
IPPPVFDHSW FYFLSEYLMI QQTPFVRRQV RKLLLFICGS KEKYRQLRDL HTLDSHVRGI
KKLLEEQGIF LRASVVTASS GSALQYDTLI SLMEHLKACA EIAAQRTINW QKFCIKDDSV
LYFLLQVSFL VDEGVSPVLL QLLSCALCGS KVLAALAASS GSSSASSSSA PVAASSGQAT
TQSKSSTKKS KKEEKEKEKD GETSGSQEDQ LCTALVNQLN KFADKETLIQ FLRCFLLESN
SSSVRWQAHC LTLHIYRNSS KSQQELLLDL MWSIWPELPA YGRKAAQFVD LLGYFSLKTP
QTEKKLKEYS QKAVEILRTQ NHILTNHPNS NIYNTLSGLV EFDGYYLESD PCLVCNNPEV
PFCYIKLSSI KVDTRYTTTQ QVVKLIGSHT ISKVTVKIGD LKRTKMVRTI NLYYNNRTVQ
AIVELKNKPA RWHKAKKVQL TPGQTEVKID LPLPIVASNL MIEFADFYEN YQASTETLQC
PRCSASVPAN PGVCGNCGEN VYQCHKCRSI NYDEKDPFLC NACGFCKYAR FDFMLYAKPC
CAVDPIENEE DRKKAVSNIN TLLDKADRVY HQLMGHRPQL ENLLCKVNEA APEKPQDDSG
TAGGISSTSA SVNRYILQLA QEYCGDCKNS FDELSKIIQK VFASRKELLE YDLQQREAAT
KSSRTSVQPT FTASQYRALS VLGCGHTSST KCYGCASAVT EHCITLLRAL ATNPALRHIL
VSQGLIRELF DYNLRRGAAA MREEVRQLMC LLTRDNPEAT QQMNDLIIGK VSTALKGHWA
NPDLASSLQY EMLLLTDSIS KEDSCWELRL RCALSLFLMA VNIKTPVVVE NITLMCLRIL
QKLIKPPAPT SKKNKDVPVE ALTTVKPYCN EIHAQAQLWL KRDPKASYDA WKKCLPIRGI
DGNGKAPSKS ELRHLYLTEK YVWRWKQFLS RRGKRTSPLD LKLGHNNWLR QVLFTPATQA
ARQAACTIVE ALATIPSRKQ QVLDLLTSYL DELSIAGECA AEYLALYQKL ITSAHWKVYL
AARGVLPYVG NLITKEIARL LALEEATLST DLQQGYALKS LTGLLSSFVE VESIKRHFKS
RLVGTVLNGY LCLRKLVVQR TKLIDETQDM LLEMLEDMTT GTESETKAFM AVCIETAKRY
NLDDYRTPVF IFERLCSIIY PEENEVTEFF VTLEKDPQQE DFLQGRMPGN PYSSNEPGIG
PLMRDIKNKI CQDCDLVALL EDDSGMELLV NNKIISLDLP VAEVYKKVWC TTNEGEPMRI
VYRMRGLLGD ATEEFIESLD STTDEEEDEE EVYKMAGVMA QCGGLECMLN RLAGIRDFKQ
GRHLLTVLLK LFSYCVKVKV NRQQLVKLEM NTLNVMLGTL NLALVAEQES KDSGGAAVAE
QVLSIMEIIL DESNAEPLSE DKGNLLLTGD KDQLVMLLDQ INSTFVRSNP SVLQGLLRII
PYLSFGEVEK MQILVERFKP YCNFDKYDED HSGDDKVFLD CFCKIAAGIK NNSNGHQLKD
LILQKGITQN ALDYMKKHIP SAKNLDADIW KKFLSRPALP FILRLLRGLA IQHPGTQVLI
GTDSIPNLHK LEQVSSDEGI GTLAENLLEA LREHPDVNKK IDAARRETRA EKKRMAMAMR
QKALGTLGMT TNEKGQVVTK TALLKQMEEL IEEPGLTCCI CREGYKFQPT KVLGIYTFTK
RVALEEMENK PRKQQGYSTV SHFNIVHYDC HLAAVRLARG REEWESAALQ NANTKCNGLL
PVWGPHVPES AFATCLARHN TYLQECTGQR EPTYQLNIHD IKLLFLRFAM EQSFSADTGG
GGRESNIHLI PYIIHTVLYV LNTTRATSRE EKNLQGFLEQ PKEKWVESAF EVDGPYYFTV
LALHILPPEQ WRATRVEILR RLLVTSQARA VAPGGATRLT DKAVKDYSAY RSSLLFWALV
DLIYNMFKKQ TTPTVGGIDT GSLEPCVCEK VPTSNTEGGW SCSLAEYIRH NDMPIYEAAD
KALKTFQEEF MPVETFSEFL DVAGLLSEIT DPESFLKDLL NSVP*
mutated AA sequence MATSGGEEAA AAAPAPGTPA TGADTTPGWE VAVRPLLSAS YSAFEMKELP QLVASVIESE
SEILHHEKQY EPFYSSFVAL STHYITTVCS LIPRNQLQSV AAACKVLIEF SLLRLENPDE
ACAVSQKHLI LLIKGLCTGC SRLDRTEIIT FTAMMKSAKL PQTVKTLSDV EDQKELASPV
SPELRQKEVQ MNFLNQLTSV FNPRTVASQP ISTQTLVEGE NDEQSSTDQA SAIKTKNVFI
AQNVASLQEL GGSEKLLRVC LNLPYFLRYI NRFQDAVLAN SFFIMPATVA DATAVRNGFH
SLVIDVTMAL DTLSLPVLEP LNPSRLQDVT VLSLSCLYAG VSVATCMAIL HVGSAQQVRT
GSTSSKEDDY ESDAATIVQK CLEIYDMIGQ AISSSRRAGG EHYQNFQLLG AWCLLNSLFL
ILNLSPTALA DKGKEKDPLA ALRVRDILSR TKEGVGSPKL GPGKGHQGFG VLSVILANHA
IKLLTSLFQD LQVEALHKGW ETDGPPAALS IMAQSTSIQR IQRLIDSVPL MNLLLTLLST
SYRKACVLQR QRKGSMSSDA SASTDSNTYY EDDFSSTEED SSQDDDSEPI LGQWFEETIS
PSKEKAAPPP PPPPPPLESS PRVKSPSKQA PGEKGNILAS RKDPELFLGL ASNILNFITS
SMLNSRNNFI RNYLSVSLSE HHMATLASII KEVDKDGLKG SSDEEFAAAL YHFNHSLVTS
DLQSPNLQNT LLQQLGVAPF SEGPWPLYIH PQSLSVLSRL LLIWQHKASA QGDPDVPECL
KVWDRFLSTM KQNALQGVVP SETEDLNVEH LQMLLLIFHN FTETGRRAIL SLFVQIIQEL
SVNMDAQMRF VPLILARLLL IFDYLLHQYS KAPVYLFEQV QHNLLSPPFG WASGSQDSNS
RRATTPLYHG FKEVEENWSK HFSSDAVPHP RFYCVLSPEA SEDDLNRLDS VACDVLFSKL
VKYDELYAAL TALLAAGSQL DTVRRKENKN VTALEACALQ YYFLILWRIL GILPPSKTYI
NQLSMNSPEM SECDILHTLR WSSRLRISSY VNWIKDHLIK QGMKAEHASS LLELASTTKC
SSVKYDVEIV EEYFARQISS FCSIDCTTIL QLHEIPSLQS IYTLDAAISK VQVSLDEHFS
KMAAETDPHK SSEITKNLLP ATLQLIDTYA SFTRAYLLQN FNEEGTTEKP SKEKLQGFAA
VLAIGSSRCK ANTLGPTLVQ NLPSSVQTVC ESWNNINTNE FPNIGSWRNA FANDTIPSES
YISAVQAAHL GTLCSQSLPL AASLKHTLLS LVRLTGDLIV WSDEMNPPQV IRTLLPLLLE
SSTESVAEIS SNSLERILGP AESDEFLARV YEKLITGCYN ILANHADPNS GLDESILEEC
LQYLEKQLES SQARKAMEEF FSDSGELVQI MMATANENLS AKFCNRVLKF FTKLFQLTEK
SPNPSLLHLC GSLAQLACVE PVRLQAWLTR MTTSPPKDSD QLDVIQENRQ LLQLLTTYIV
RENSQVGEGV CAVLLGTLTP MATEMLANGD GTGFPELMVV MATLASAGQG AGHLQLHNAA
VDWLSRCKKY LSQKNVVEKL NANVMHGKHV MILECTCHIM SYLADVTNAL SQSNGQGPSH
LSVDGEERAI EVDSDWVEEL AVEEEDSQAE DSDEDSLCNK LCTFTITQKE FMNQHWYHCH
TCKMVDGVGV CTVCAKVCHK DHEISYAKYG SFFCDCGAKE DGSCLALVKR TPSSGMSSTM
KESAFQSEPR ISESLVRHAS TSSPADKAKV TISDGKVADE EKPKKSSLCR TVEGCREELQ
NQANFSFAPL VLDMLNFLMD AIQTNFQQAS AVGSSSRAQQ ALSELHTVEK AVEMTDQLMV
PTLGSQEGAF ENVRMNYSGD QGQTIRQLIS AHVLRRVAMC VLSSPHGRRQ HLAVSHEKGK
ITVLQLSALL KQADSSKRKL TLTRLASAPV PFTVLSLTGN PCKEDYLAVC GLKDCHVLTF
SSSGSVSDHL VLHPQLATGN FIIKAVWLPG SQTELAIVTA DFVKIYDLCV DALSPTFYFL
LPSSKIRDVT FLFNEEGKNI IVIMSSAGYI YTQLMEEASS AQQGPFYVTN VLEINHEDLK
DSNSQVAGGG VSVYYSHVLQ MLFFSYCQGK SFAATISRTT LEVLQLFPIN IKSSNGGSKT
SPALCQWSEV MNHPGLVCCV QQTTGVPLVV MVKPDTFLIQ EIKTLPAKAK IQDMVAIRHT
ACNEQQRTTM ILLCEDGSLR IYMANVENTS YWLQPSLQPS SVISIMKPVR KRKTATITTR
TSSQVTFPID FFEHNQQLTD VEFGGNDLLQ VYNAQQIKHR LNSTGMYVAN TKPGGFTIEI
SNNNSTMVMT GMRIQIGTQA IERAPSYIEI FGRTMQLNLS RSRWFDFPFT REEALQADKK
LNLFIGASVD PAGVTMIDAV KIYGKTKEQF GWPDEPPEEF PSASVSNICP SNLNQSNGTG
DSDSAAPTTT SGTVLERLVV SSLEALESCF AVGPIIEKER NKNAAQELAT LLLSLPAPAS
VQQQSKSLLA SLHTSRSAYH SHKDQALLSK AVQCLNTSSK EGKDLDPEVF QRLVITARSI
AIMRPNNLVH FTESKLPQME TEGMDEGKEP QKQLEGDCCS FITQLVNHFW KLHASKPKNA
FLAPACLPGL THIEATVNAL VDIIHGYCTC ELDCINTASK IYMQMLLCPD PAVSFSCKQA
LIRVLRPRNK RRHVTLPSSP RSNTPMGDKD DDDDDDADEK MQSSGIPNGG HIRQESQEQS
EVDHGDFEMV SESMVLETAE NVNNGNPSPL EALLAGAEGF PPMLDIPPDA DDETMVELAI
ALSLQQDQQG SSSSALGLQS LGLSGQAPSS SSLDAGTLSD TTASAPASDD EGSTAATDGS
TLRTSPADHG GSVGSESGGS AVDSVAGEHS VSGRSSAYGD ATAEGHPAGP GSVSSSTGAI
STTTGHQEGD GSEGEGEGET EGDVHTSNRL HMVRLMLLER LLQTLPQLRN VGGVRAIPYM
QVILMLTTDL DGEDEKDKGA LDNLLSQLIA ELGMDKKDVS KKNERSALNE VHLVVMRLLS
VFMSRTKSGS KSSICESSSL ISSATAAALL SSGAVDYCLH VLKSLLEYWK SQQNDEEPVA
TSQLLKPHTT SSPPDMSPFF LRQYVKGHAA DVFEAYTQLL TEMVLRLPYQ IKKITDTNSR
IPPPVFDHSW FYFLSEYLMI QQTPFVRRQV RKLLLFICGS KEKYRQLRDL HTLDSHVRGI
KKLLEEQGIF LRASVVTASS GSALQYDTLI SLMEHLKACA EIAAQRTINW QKFCIKDDSV
LYFLLQVSFL VDEGVSPVLL QLLSCALCGS KVLAALAASS GSSSASSSSA PVAASSGQAT
TQSKSSTKKS KKEEKEKEKD GETSGSQEDQ LCTALVNQLN KFADKETLIQ FLRCFLLESN
SSSVRWQAHC LTLHIYRNSS KSQQELLLDL MWSIWPELPA YGRKAAQFVD LLGYFSLKTP
QTEKKLKEYS QKAVEILRTQ NHILTNHPNS NIYNTLSGLV EFDGYYLESD PCLVCNNPEV
PFCYIKLSSI KVDTRYTTTQ QVVKLIGSHT ISKVTVKIGD LKRTKMVRTI NLYYNNRTVQ
AIVELKNKPA RWHKAKKVQL TPGQTEVKID LPLPIVASNL MIEFADFYEN YQASTETLQC
PRCSASVPAN PGVCGNCGEN VYQCHKCRSI NYDEKDPFLC NACGFCKYAR FDFMLYAKPC
CAVDPIENEE DRKKAVSNIN TLLDKADRVY HQLMGHRPQL ENLLCKVNEA APEKPQDDSG
TAGGISSTSA SVNRYILQLA QEYCGDCKNS FDELSKIIQK VFASRKELLE YDLQQREAAT
KSSRTSVQPT FTASQYRALS VLGCGHTSST KCYGCASAVT EHCITLLRAL ATNPALRHIL
VSQGLIRELF DYNLRRGAAA MREEVRQLMC LLTRDNPEAT QQMNDLIIGK VSTALKGHWA
NPDLASSLQY EMLLLTDSIS KEDSCWELRL RCALSLFLMA VNIKTPVVVE NITLMCLRIL
QKLIKPPAPT SKKNKDVPVE ALTTVKPYCN EIHAQAQLWL KRDPKASYDA WKKCLPIRGI
DGNGKAPSKS ELRHLYLTEK YVWRWKQFLS RRGKRTSPLD LKLGHNNWLR QVLFTPATQA
ARQAACTIVE ALATIPSRKQ QVLDLLTSYL DELSIAGECA AEYLALYQKL ITSAHWKVYL
AARGVLPYVG NLITKEIARL LALEEATLST DLQQGYALKS LTGLLSSFVE VESIKRHFKS
RLVGTVLNGY LCLRKLVVQR TKLIDETQDM LLEMLEDMTT GTESETKAFM AVCIETAKRY
NLDDYRTPVF IFERLCSIIY PEENEVTEFF VTLEKDPQQE DFLQGRMPGN PYSSNEPGIG
PLMRDIKNKI CQDCDLVALL EDDSGMELLV NNKIISLDLP VAEVYKKVWC TTNEGEPMRI
VYRMRGLLGD ATEEFIESLD STTDEEEDEE EVYKMAGVMA QCGGLECMLN RLAGIRDFKQ
GRHLLTVLLK LFSYCVKVKV NRQQLVKLEM NTLNVMLGTL NLALVAEQES KDSGGAAVAE
QVLSIMEIIL DESNAEPLSE DKGNLLLTGD KDQLVMLLDQ INSTFVRSNP SVLQGLLRII
PYLSFGEVEK MQILVERFKP YCNFDKYDED HSGDDKVFLD CFCKIAAGIK NNSNGHQLKD
LILQKGITQN ALDYMKKHIP SAKNLDADIW KKFLSRPALP FILRLLRGLA IQHPGTQVLI
GTDSIPNLHK LEQVSSDEGI GTLAENLLEA LREHPDVNKK IDAARRETRA EKKRMAMAMR
QKALGTLGMT TNEKGQVVTK TALLKQMEEL IEEPGLTCCI CREGYKFQPT KVLGIYTFTK
RVALEELENK PRKQQGYSTV SHFNIVHYDC HLAAVRLARG REEWESAALQ NANTKCNGLL
PVWGPHVPES AFATCLARHN TYLQECTGQR EPTYQLNIHD IKLLFLRFAM EQSFSADTGG
GGRESNIHLI PYIIHTVLYV LNTTRATSRE EKNLQGFLEQ PKEKWVESAF EVDGPYYFTV
LALHILPPEQ WRATRVEILR RLLVTSQARA VAPGGATRLT DKAVKDYSAY RSSLLFWALV
DLIYNMFKKQ TTPTVGGIDT GSLEPCVCEK VPTSNTEGGW SCSLAEYIRH NDMPIYEAAD
KALKTFQEEF MPVETFSEFL DVAGLLSEIT DPESFLKDLL NSVP*
speed 0.87 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.750758533413046 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:19413261T>AN/A show variant in all transcripts   IGV
HGNC symbol UBR4
Ensembl transcript ID ENST00000375224
Genbank transcript ID N/A
UniProt peptide Q5T4S7
alteration type single base exchange
alteration region CDS
DNA changes c.1720A>T
cDNA.2204A>T
g.123510A>T
AA changes M574L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 574
frameshift no
known variant Reference ID: rs12584
databasehomozygous (A/A)heterozygousallele carriers
1000G93611402076
ExAC21187-960711580
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.4681
0.3220.999
(flanking)1.3171
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased123503wt: 0.73 / mu: 0.92wt: GCCTTGGAGGAGATG
mu: GCCTTGGAGGAGTTG		 CTTG|gagg
distance from splice site 55
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      574YTFTKRVALEEMENKPRKQQGYST
mutated  all conserved    574YTFTKRVALEELENKPRKQQGYS
Ptroglodytes  all identical  ENSPTRG00000000257  4867YTFTKRVALEEMENKPRKQQGYS
Mmulatta  all identical  ENSMMUG00000006669  4140YTFTKRVALEEMENKPRKQQGYS
Fcatus  all identical  ENSFCAG00000008769  4805YTFTKRVALEEMENKPRKQQGYS
Mmusculus  all identical  ENSMUSG00000066036  4864YTFTKRVALEEMENKPRKQQGYS
Ggallus  not conserved  ENSGALG00000003910  4885YTFTKRVALEEFENKPRKQQGYS
Trubripes  not conserved  ENSTRUG00000015441  4854YTFTKRVFLEDFENKPRKQQGYS
Drerio  not conserved  ENSDARG00000009549  4836YTFTKRVSLEEFENKPRKQQGYS
Dmelanogaster  not conserved  FBgn0011230  4995YTFTKRCNVEEFELKSRKTIGYT
Celegans  not conserved  C44E4.1  2449YAF---AAIDPDSGKT------S
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
608631COMPBIASPro-rich.might get lost (downstream of altered splice site)
619619MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
620620MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
850870TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
9931013TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
10841084MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
16561729ZN_FINGUBR-type.might get lost (downstream of altered splice site)
20162016CONFLICTA -> S (in Ref. 1; AAL83880).might get lost (downstream of altered splice site)
24102410CONFLICTD -> E (in Ref. 1; AAL83880).might get lost (downstream of altered splice site)
27152715MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
27182718MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
27192719MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
27222722MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
27242724MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
27282738COMPBIASPoly-Asp.might get lost (downstream of altered splice site)
33393370COMPBIASSer-rich.might get lost (downstream of altered splice site)
39573957CONFLICTG -> S (in Ref. 1; AAL83880).might get lost (downstream of altered splice site)
45894589CONFLICTG -> V (in Ref. 7; AAH18694).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2673 / 2673
position (AA) of stopcodon in wt / mu AA sequence 891 / 891
position of stopcodon in wt / mu cDNA 3157 / 3157
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 485 / 485
chromosome 1
strand -1
last intron/exon boundary 3093
theoretical NMD boundary in CDS 2558
length of CDS 2673
coding sequence (CDS) position 1720
cDNA position
(for ins/del: last normal base / first normal base)		 2204
gDNA position
(for ins/del: last normal base / first normal base)		 123510
chromosomal position
(for ins/del: last normal base / first normal base)		 19413261
original gDNA sequence snippet AGCGGGTAGCCTTGGAGGAGATGGAGAATAAGCCCCGGAAA
altered gDNA sequence snippet AGCGGGTAGCCTTGGAGGAGTTGGAGAATAAGCCCCGGAAA
original cDNA sequence snippet AGCGGGTAGCCTTGGAGGAGATGGAGAATAAGCCCCGGAAA
altered cDNA sequence snippet AGCGGGTAGCCTTGGAGGAGTTGGAGAATAAGCCCCGGAAA
wildtype AA sequence MLEDMTTGTE SETKAFMAVC IETAKRYNLD DYRTPVFIFE RLCSIIYPEE NEVTEFFVTL
EKDPQQEDFL QGRMPGNPYS SNEPGIGPLM RDIKNKICQD CDLVALLEDD SGMELLVNNK
IISLDLPVAE VYKKVWCTTN EGEPMRIVYR MRGLLGDATE EFIESLDSTT DEEEDEEEVY
KMAGVMAQCG GLECMLNRLA GIRDFKQGRH LLTVLLKLFS YCVKVKVNRQ QLVKLEMNTL
NVMLGTLNLA LVAEQESKDS GGAAVAEQVL SIMEIILDES NAEPLSEDKG NLLLTGDKDQ
LVMLLDQINS TFVRSNPSVL QGLLRIIPYL SFGEVEKMQI LVERFKPYCN FDKYDEDHSG
DDKVFLDCFC KIAAGIKNNS NGHQLKDLIL QKGITQNALD YMKKHIPSAK NLDADIWKKF
LSRPALPFIL RLLRGLAIQH PGTQVLIGTD SIPNLHKLEQ VSSDEGIGTL AENLLEALRE
HPDVNKKIDA ARRETRAEKK RMAMAMRQKA LGTLGMTTNE KGQVVTKTAL LKQMEELIEE
PGLTCCICRE GYKFQPTKVL GIYTFTKRVA LEEMENKPRK QQGYSTVSHF NIVHYDCHLA
AVRLARGREE WESAALQNAN TKCNGLLPVW GPHVPESAFA TCLARHNTYL QECTGQREPT
YQLNIHDIKL LFLRFAMEQS FSADTGGGGR ESNIHLIPYI IHTVLYVLNT TRATSREEKN
LQGFLEQPKE KWVESAFEVD GPYYFTVLAL HILPPEQWRA TRVEILRRLL VTSQARAVAP
GGATRLTDKA VKDYSAYRSS LLFWALVDLI YNMFKKVPTS NTEGGWSCSL AEYIRHNDMP
IYEAADKALK TFQEEFMPVE TFSEFLDVAG LLSEITDPES FLKDLLNSVP *
mutated AA sequence MLEDMTTGTE SETKAFMAVC IETAKRYNLD DYRTPVFIFE RLCSIIYPEE NEVTEFFVTL
EKDPQQEDFL QGRMPGNPYS SNEPGIGPLM RDIKNKICQD CDLVALLEDD SGMELLVNNK
IISLDLPVAE VYKKVWCTTN EGEPMRIVYR MRGLLGDATE EFIESLDSTT DEEEDEEEVY
KMAGVMAQCG GLECMLNRLA GIRDFKQGRH LLTVLLKLFS YCVKVKVNRQ QLVKLEMNTL
NVMLGTLNLA LVAEQESKDS GGAAVAEQVL SIMEIILDES NAEPLSEDKG NLLLTGDKDQ
LVMLLDQINS TFVRSNPSVL QGLLRIIPYL SFGEVEKMQI LVERFKPYCN FDKYDEDHSG
DDKVFLDCFC KIAAGIKNNS NGHQLKDLIL QKGITQNALD YMKKHIPSAK NLDADIWKKF
LSRPALPFIL RLLRGLAIQH PGTQVLIGTD SIPNLHKLEQ VSSDEGIGTL AENLLEALRE
HPDVNKKIDA ARRETRAEKK RMAMAMRQKA LGTLGMTTNE KGQVVTKTAL LKQMEELIEE
PGLTCCICRE GYKFQPTKVL GIYTFTKRVA LEELENKPRK QQGYSTVSHF NIVHYDCHLA
AVRLARGREE WESAALQNAN TKCNGLLPVW GPHVPESAFA TCLARHNTYL QECTGQREPT
YQLNIHDIKL LFLRFAMEQS FSADTGGGGR ESNIHLIPYI IHTVLYVLNT TRATSREEKN
LQGFLEQPKE KWVESAFEVD GPYYFTVLAL HILPPEQWRA TRVEILRRLL VTSQARAVAP
GGATRLTDKA VKDYSAYRSS LLFWALVDLI YNMFKKVPTS NTEGGWSCSL AEYIRHNDMP
IYEAADKALK TFQEEFMPVE TFSEFLDVAG LLSEITDPES FLKDLLNSVP *
speed 1.02 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.750758533413046 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:19413261T>AN/A show variant in all transcripts   IGV
HGNC symbol UBR4
Ensembl transcript ID ENST00000375217
Genbank transcript ID N/A
UniProt peptide Q5T4S7
alteration type single base exchange
alteration region CDS
DNA changes c.14578A>T
cDNA.14582A>T
g.123510A>T
AA changes M4860L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 4860
frameshift no
known variant Reference ID: rs12584
databasehomozygous (A/A)heterozygousallele carriers
1000G93611402076
ExAC21187-960711580
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.4681
0.3220.999
(flanking)1.3171
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased123503wt: 0.73 / mu: 0.92wt: GCCTTGGAGGAGATG
mu: GCCTTGGAGGAGTTG		 CTTG|gagg
distance from splice site 55
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      4860YTFTKRVALEEMENKPRKQQGYST
mutated  all conserved    4860YTFTKRVALEELENKPRKQQGYS
Ptroglodytes  all identical  ENSPTRG00000000257  4867YTFTKRVALEEMENKPRKQQGYS
Mmulatta  all identical  ENSMMUG00000006669  4140YTFTKRVALEEMENKPRKQQGYS
Fcatus  all identical  ENSFCAG00000008769  4805YTFTKRVALEEMENKPRKQQGYS
Mmusculus  all identical  ENSMUSG00000066036  4864YTFTKRVALEEMENKPRKQQGYS
Ggallus  not conserved  ENSGALG00000003910  4885YTFTKRVALEEFENKPRKQQGYS
Trubripes  not conserved  ENSTRUG00000015441  4854YTFTKRVFLEDFENKPRKQQGYS
Drerio  not conserved  ENSDARG00000009549  4836YTFTKRVSLEEFENKPRKQQGYS
Dmelanogaster  not conserved  FBgn0011230  4995YTFTKRCNVEEFELKSRKTIGYT
Celegans  not conserved  C44E4.1  2449YAF---AAIDPDSGKT------S
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 15531 / 15531
position (AA) of stopcodon in wt / mu AA sequence 5177 / 5177
position of stopcodon in wt / mu cDNA 15535 / 15535
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 5 / 5
chromosome 1
strand -1
last intron/exon boundary 15471
theoretical NMD boundary in CDS 15416
length of CDS 15531
coding sequence (CDS) position 14578
cDNA position
(for ins/del: last normal base / first normal base)		 14582
gDNA position
(for ins/del: last normal base / first normal base)		 123510
chromosomal position
(for ins/del: last normal base / first normal base)		 19413261
original gDNA sequence snippet AGCGGGTAGCCTTGGAGGAGATGGAGAATAAGCCCCGGAAA
altered gDNA sequence snippet AGCGGGTAGCCTTGGAGGAGTTGGAGAATAAGCCCCGGAAA
original cDNA sequence snippet AGCGGGTAGCCTTGGAGGAGATGGAGAATAAGCCCCGGAAA
altered cDNA sequence snippet AGCGGGTAGCCTTGGAGGAGTTGGAGAATAAGCCCCGGAAA
wildtype AA sequence MATSGGEEAA AAAPAPGTPA TGADTTPGWE VAVRPLLSAS YSAFEMKELP QLVASVIESE
SEILHHEKQY EPFYSSFVAL STHYITTVCS LIPRNQLQSV AAACKVLIEF SLLRLENPDE
ACAVSQKHLI LLIKGLCTGC SRLDRTEIIT FTAMMKSAKL PQTVKTLSDV EDQKELASPV
SPELRQKEVQ MNFLNQLTSV FNPRTVASQP ISTQTLVEGE NDEQSSTDQA SAIKTKNVFI
AQNVASLQEL GGSEKLLRVC LNLPYFLRYI NRFQDAVLAN SFFIMPATVA DATAVRNGFH
SLVIDVTMAL DTLSLPVLEP LNPSRLQDVT VLSLSCLYAG VSVATCMAIL HVGSAQQVRT
GSTSSKEDDY ESDAATIVQK CLEIYDMIGQ AISSSRRAGG EHYQNFQLLG AWCLLNSLFL
ILNLSPTALA DKGKEKDPLA ALRVRDILSR TKEGVGSPKL GPGKGHQGFG VLSVILANHA
IKLLTSLFQD LQVEALHKGW ETDGPPAALS IMAQSTSIQR IQRLIDSVPL MNLLLTLLST
SYRKACVLQR QRKGSMSSDA SASTDSNTYY EDDFSSTEED SSQDDDSEPI LGQWFEETIS
PSKEKAAPPP PPPPPPLESS PRVKSPSKQA PGEKGNILAS RKDPELFLGL ASNILNFITS
SMLNSRNNFI RNYLSVSLSE HHMATLASII KEVDKDGLKG SSDEEFAAAL YHFNHSLVTS
DLQSPNLQNT LLQQLGVAPF SEGPWPLYIH PQSLSVLSRL LLIWQHKASA QGDPDVPECL
KVWDRFLSTM KQNALQGVVP SETEDLNVEH LQMLLLIFHN FTETGRRAIL SLFVQIIQEL
SVNMDAQMRF VPLILARLLL IFDYLLHQYS KAPVYLFEQV QHNLLSPPFG WASGSQDSNS
RRATTPLYHG FKEVEENWSK HFSSDAVPHP RFYCVLSPEA SEDDLNRLDS VACDVLFSKL
VKYDELYAAL TALLAAGSQL DTVRRKENKN VTALEACALQ YYFLILWRIL GILPPSKTYI
NQLSMNSPEM SECDILHTLR WSSRLRISSY VNWIKDHLIK QGMKAEHASS LLELASTTKC
SSVKYDVEIV EEYFARQISS FCSIDCTTIL QLHEIPSLQS IYTLDAAISK VQVSLDEHFS
KMAAETDPHK SSEITKNLLP ATLQLIDTYA SFTRAYLLQN FNEEGTTEKP SKEKLQGFAA
VLAIGSSRCK ANTLGPTLVQ NLPSSVQTVC ESWNNINTNE FPNIGSWRNA FANDTIPSES
YISAVQAAHL GTLCSQSLPL AASLKHTLLS LVRLTGDLIV WSDEMNPPQV IRTLLPLLLE
SSTESVAEIS SNSLERILGP AESDEFLARV YEKLITGCYN ILANHADPNS GLDESILEEC
LQYLEKQLES SQARKAMEEF FSDSGELVQI MMATANENLS AKFCNRVLKF FTKLFQLTEK
SPNPSLLHLC GSLAQLACVE PVRLQAWLTR MTTSPPKDSD QLDVIQENRQ LLQLLTTYIV
RENSQVGEGV CAVLLGTLTP MATEMLANGD GTGFPELMVV MATLASAGQG AGHLQLHNAA
VDWLSRCKKY LSQKNVVEKL NANVMHGKHV MILECTCHIM SYLADVTNAL SQSNGQGPSH
LSVDGEERAI EVDSDWVEEL AVEEEDSQAE DSDEDSLCNK LCTFTITQKE FMNQHWYHCH
TCKMVDGVGV CTVCAKVCHK DHEISYAKYG SFFCDCGAKE DGSCLALVKR TPSSGMSSTM
KESAFQSEPR ISESLVRHAS TSSPADKAKV TISDGKVADE EKPKKSSLCR TVEGCREELQ
NQANFSFAPL VLDMLNFLMD AIQTNFQQAS AVGSSSRAQQ ALSELHTVEK AVEMTDQLMV
PTLGSQEGAF ENVRMNYSGD QGQTIRQLIS AHVLRRVAMC VLSSPHGRRQ HLAVSHEKGK
ITVLQLSALL KQADSSKRKL TLTRLASAPV PFTVLSLTGN PCKEDYLAVC GLKDCHVLTF
SSSGSVSDHL VLHPQLATGN FIIKAVWLPG SQTELAIVTA DFVKIYDLCV DALSPTFYFL
LPSSKIRDVT FLFNEEGKNI IVIMSSAGYI YTQLMEEASS AQQGPFYVTN VLEINHEDLK
DSNSQVAGGG VSVYYSHVLQ MLFFSYCQGK SFAATISRTT LEVLQLFPIN IKSSNGGSKT
SPALCQWSEV MNHPGLVCCV QQTTGVPLVV MVKPDTFLIQ EIKTLPAKAK IQDMVAIRHT
ACNEQQRTTM ILLCEDGSLR IYMANVENTS YWLQPSLQPS SVISIMKPVR KRKTATITTR
TSSQVTFPID FFEHNQQLTD VEFGGNDLLQ VYNAQQIKHR LNSTGMYVAN TKPGGFTIEI
SNNNSTMVMT GMRIQIGTQA IERAPSYIEI FGRTMQLNLS RSRWFDFPFT REEALQADKK
LNLFIGASVD PAGVTMIDAV KIYGKTKEQF GWPDEPPEEF PSASVSNICP SNLNQSNGTG
DSDSAAPTTT SGTVLERLVV SSLEALESCF AVGPIIEKER NKNAAQELAT LLLSLPAPAS
VQQQSKSLLA SLHTSRSAYH SHKDQALLSK AVQCLNTSSK EGKDLDPEVF QRLVITARSI
AIMRPNNLVH FTESKLPQME TDCFFPRCAC WSLGIVGILI GAPLETPSPE GMDEGKEPQK
QLEGDCCSFI TQLVNHFWKL HASKPKNAFL APACLPGLTH IEATVNALVD IIHGYCTCEL
DCINTASKIY MQMLLCPDPA VSFSCKQALI RVLRPRNKRR HVTLPSSPRS NTPMGDKDDD
DDDDADEKMQ SSGIPNGGHI RQESQEQSEV DHGDFEMVSE SMVLETAENV NNGNPSPLEA
LLAGAEGFPP MLDIPPDADD ETMVELAIAL SLQQDQQAPA SDDEGSTAAT DGSTLRTSPA
DHGGSVGSES GGSAVDSVAG EHSVSGRSSA YGDATAEGHP AGPGSVSSST GAISTTTGHQ
EGDGSEGEGE GETEGDVHTS NRLHMVRLML LERLLQTLPQ LRNVGGVRAI PYMQVILMLT
TDLDGEDEKD KGALDNLLSQ LIAELGMDKK DVSKKNERSA LNEVHLVVMR LLSVFMSRTK
SGSKSSICES SSLISSATAA ALLSSGAVDY CLHVLKSLLE YWKSQQNDEE PVATSQLLKP
HTTSSPPDMS PFFLRQYVKG HAADVFEAYT QLLTEMVLRL PYQIKKITDT NSRIPPPVFD
HSWFYFLSEY LMIQQTPFVR RQVRKLLLFI CGSKEKYRQL RDLHTLDSHV RGIKKLLEEQ
GIFLRASVVT ASSGSALQYD TLISLMEHLK ACAEIAAQRT INWQKFCIKD DSVLYFLLQV
SFLVDEGVSP VLLQLLSCAL CGSKVLAALA ASSGSSSASS SSAPVAASSG QATTQSKSST
KKSKKEEKEK EKDGETSGSQ EDQLCTALVN QLNKFADKET LIQFLRCFLL ESNSSSVRWQ
AHCLTLHIYR NSSKSQQELL LDLMWSIWPE LPAYGRKAAQ FVDLLGYFSL KTPQTEKKLK
EYSQKAVEIL RTQNHILTNH PNSNIYNTLS GLVEFDGYYL ESDPCLVCNN PEVPFCYIKL
SSIKVDTRYT TTQQVVKLIG SHTISKVTVK IGDLKRTKMV RTINLYYNNR TVQAIVELKN
KPARWHKAKK VQLTPGQTEV KIDLPLPIVA SNLMIEFADF YENYQASTET LQCPRCSASV
PANPGVCGNC GENVYQCHKC RSINYDEKDP FLCNACGFCK YARFDFMLYA KPCCAVDPIE
NEEDRKKAVS NINTLLDKAD RVYHQLMGHR PQLENLLCKV NEAAPEKPQD DSGTAGGISS
TSASVNRYIL QLAQEYCGDC KNSFDELSKI IQKVFASRKE LLEYDLQQRE AATKSSRTSV
QPTFTASQYR ALSVLGCGHT SSTKCYGCAS AVTEHCITLL RALATNPALR HILVSQGLIR
ELFDYNLRRG AAAMREEVRQ LMCLLTRDNP EATQQMNDLI IGKVSTALKG HWANPDLASS
LQYEMLLLTD SISKEDSCWE LRLRCALSLF LMAVNIKTPV VVENITLMCL RILQKLIKPP
APTSKKNKDV PVEALTTVKP YCNEIHAQAQ LWLKRDPKAS YDAWKKCLPI RGIDGNGKAP
SKSELRHLYL TEKYVWRWKQ FLSRRGKRTS PLDLKLGHNN WLRQVLFTPA TQAARQAACT
IVEALATIPS RKQQVLDLLT SYLDELSIAG ECAAEYLALY QKLITSAHWK VYLAARGVLP
YVGNLITKEI ARLLALEEAT LSTDLQQGYA LKSLTGLLSS FVEVESIKRH FKSRLVGTVL
NGYLCLRKLV VQRTKLIDET QDMLLEMLED MTTGTESETK AFMAVCIETA KRYNLDDYRT
PVFIFERLCS IIYPEENEVT EFFVTLEKDP QQEDFLQGRM PGNPYSSNEP GIGPLMRDIK
NKICQDCDLV ALLEDDSGME LLVNNKIISL DLPVAEVYKK VWCTTNEGEP MRIVYRMRGL
LGDATEEFIE SLDSTTDEEE DEEEVYKMAG VMAQCGGLEC MLNRLAGIRD FKQGRHLLTV
LLKLFSYCVK VKVNRQQLVK LEMNTLNVML GTLNLALVAE QESKDSGGAA VAEQVLSIME
IILDESNAEP LSEDKGNLLL TGDKDQLVML LDQINSTFVR SNPSVLQGLL RIIPYLSFGE
VEKMQILVER FKPYCNFDKY DEDHSGDDKV FLDCFCKIAA GIKNNSNGHQ LKDLILQKGI
TQNALDYMKK HIPSAKNLDA DIWKKFLSRP ALPFILRLLR GLAIQHPGTQ VLIGTDSIPN
LHKLEQVSSD EGIGTLAENL LEALREHPDV NKKIDAARRE TRAEKKRMAM AMRQKALGTL
GMTTNEKGQV VTKTALLKQM EELIEEPGLT CCICREGYKF QPTKVLGIYT FTKRVALEEM
ENKPRKQQGY STVSHFNIVH YDCHLAAVRL ARGREEWESA ALQNANTKCN GLLPVWGPHV
PESAFATCLA RHNTYLQECT GQREPTYQLN IHDIKLLFLR FAMEQSFSAD TGGGGRESNI
HLIPYIIHTV LYVLNTTRAT SREEKNLQGF LEQPKEKWVE SAFEVDGPYY FTVLALHILP
PEQWRATRVE ILRRLLVTSQ ARAVAPGGAT RLTDKAVKDY SAYRSSLLFW ALVDLIYNMF
KKVPTSNTEG GWSCSLAEYI RHNDMPIYEA ADKALKTFQE EFMPVETFSE FLDVAGLLSE
ITDPESFLKD LLNSVP*
mutated AA sequence MATSGGEEAA AAAPAPGTPA TGADTTPGWE VAVRPLLSAS YSAFEMKELP QLVASVIESE
SEILHHEKQY EPFYSSFVAL STHYITTVCS LIPRNQLQSV AAACKVLIEF SLLRLENPDE
ACAVSQKHLI LLIKGLCTGC SRLDRTEIIT FTAMMKSAKL PQTVKTLSDV EDQKELASPV
SPELRQKEVQ MNFLNQLTSV FNPRTVASQP ISTQTLVEGE NDEQSSTDQA SAIKTKNVFI
AQNVASLQEL GGSEKLLRVC LNLPYFLRYI NRFQDAVLAN SFFIMPATVA DATAVRNGFH
SLVIDVTMAL DTLSLPVLEP LNPSRLQDVT VLSLSCLYAG VSVATCMAIL HVGSAQQVRT
GSTSSKEDDY ESDAATIVQK CLEIYDMIGQ AISSSRRAGG EHYQNFQLLG AWCLLNSLFL
ILNLSPTALA DKGKEKDPLA ALRVRDILSR TKEGVGSPKL GPGKGHQGFG VLSVILANHA
IKLLTSLFQD LQVEALHKGW ETDGPPAALS IMAQSTSIQR IQRLIDSVPL MNLLLTLLST
SYRKACVLQR QRKGSMSSDA SASTDSNTYY EDDFSSTEED SSQDDDSEPI LGQWFEETIS
PSKEKAAPPP PPPPPPLESS PRVKSPSKQA PGEKGNILAS RKDPELFLGL ASNILNFITS
SMLNSRNNFI RNYLSVSLSE HHMATLASII KEVDKDGLKG SSDEEFAAAL YHFNHSLVTS
DLQSPNLQNT LLQQLGVAPF SEGPWPLYIH PQSLSVLSRL LLIWQHKASA QGDPDVPECL
KVWDRFLSTM KQNALQGVVP SETEDLNVEH LQMLLLIFHN FTETGRRAIL SLFVQIIQEL
SVNMDAQMRF VPLILARLLL IFDYLLHQYS KAPVYLFEQV QHNLLSPPFG WASGSQDSNS
RRATTPLYHG FKEVEENWSK HFSSDAVPHP RFYCVLSPEA SEDDLNRLDS VACDVLFSKL
VKYDELYAAL TALLAAGSQL DTVRRKENKN VTALEACALQ YYFLILWRIL GILPPSKTYI
NQLSMNSPEM SECDILHTLR WSSRLRISSY VNWIKDHLIK QGMKAEHASS LLELASTTKC
SSVKYDVEIV EEYFARQISS FCSIDCTTIL QLHEIPSLQS IYTLDAAISK VQVSLDEHFS
KMAAETDPHK SSEITKNLLP ATLQLIDTYA SFTRAYLLQN FNEEGTTEKP SKEKLQGFAA
VLAIGSSRCK ANTLGPTLVQ NLPSSVQTVC ESWNNINTNE FPNIGSWRNA FANDTIPSES
YISAVQAAHL GTLCSQSLPL AASLKHTLLS LVRLTGDLIV WSDEMNPPQV IRTLLPLLLE
SSTESVAEIS SNSLERILGP AESDEFLARV YEKLITGCYN ILANHADPNS GLDESILEEC
LQYLEKQLES SQARKAMEEF FSDSGELVQI MMATANENLS AKFCNRVLKF FTKLFQLTEK
SPNPSLLHLC GSLAQLACVE PVRLQAWLTR MTTSPPKDSD QLDVIQENRQ LLQLLTTYIV
RENSQVGEGV CAVLLGTLTP MATEMLANGD GTGFPELMVV MATLASAGQG AGHLQLHNAA
VDWLSRCKKY LSQKNVVEKL NANVMHGKHV MILECTCHIM SYLADVTNAL SQSNGQGPSH
LSVDGEERAI EVDSDWVEEL AVEEEDSQAE DSDEDSLCNK LCTFTITQKE FMNQHWYHCH
TCKMVDGVGV CTVCAKVCHK DHEISYAKYG SFFCDCGAKE DGSCLALVKR TPSSGMSSTM
KESAFQSEPR ISESLVRHAS TSSPADKAKV TISDGKVADE EKPKKSSLCR TVEGCREELQ
NQANFSFAPL VLDMLNFLMD AIQTNFQQAS AVGSSSRAQQ ALSELHTVEK AVEMTDQLMV
PTLGSQEGAF ENVRMNYSGD QGQTIRQLIS AHVLRRVAMC VLSSPHGRRQ HLAVSHEKGK
ITVLQLSALL KQADSSKRKL TLTRLASAPV PFTVLSLTGN PCKEDYLAVC GLKDCHVLTF
SSSGSVSDHL VLHPQLATGN FIIKAVWLPG SQTELAIVTA DFVKIYDLCV DALSPTFYFL
LPSSKIRDVT FLFNEEGKNI IVIMSSAGYI YTQLMEEASS AQQGPFYVTN VLEINHEDLK
DSNSQVAGGG VSVYYSHVLQ MLFFSYCQGK SFAATISRTT LEVLQLFPIN IKSSNGGSKT
SPALCQWSEV MNHPGLVCCV QQTTGVPLVV MVKPDTFLIQ EIKTLPAKAK IQDMVAIRHT
ACNEQQRTTM ILLCEDGSLR IYMANVENTS YWLQPSLQPS SVISIMKPVR KRKTATITTR
TSSQVTFPID FFEHNQQLTD VEFGGNDLLQ VYNAQQIKHR LNSTGMYVAN TKPGGFTIEI
SNNNSTMVMT GMRIQIGTQA IERAPSYIEI FGRTMQLNLS RSRWFDFPFT REEALQADKK
LNLFIGASVD PAGVTMIDAV KIYGKTKEQF GWPDEPPEEF PSASVSNICP SNLNQSNGTG
DSDSAAPTTT SGTVLERLVV SSLEALESCF AVGPIIEKER NKNAAQELAT LLLSLPAPAS
VQQQSKSLLA SLHTSRSAYH SHKDQALLSK AVQCLNTSSK EGKDLDPEVF QRLVITARSI
AIMRPNNLVH FTESKLPQME TDCFFPRCAC WSLGIVGILI GAPLETPSPE GMDEGKEPQK
QLEGDCCSFI TQLVNHFWKL HASKPKNAFL APACLPGLTH IEATVNALVD IIHGYCTCEL
DCINTASKIY MQMLLCPDPA VSFSCKQALI RVLRPRNKRR HVTLPSSPRS NTPMGDKDDD
DDDDADEKMQ SSGIPNGGHI RQESQEQSEV DHGDFEMVSE SMVLETAENV NNGNPSPLEA
LLAGAEGFPP MLDIPPDADD ETMVELAIAL SLQQDQQAPA SDDEGSTAAT DGSTLRTSPA
DHGGSVGSES GGSAVDSVAG EHSVSGRSSA YGDATAEGHP AGPGSVSSST GAISTTTGHQ
EGDGSEGEGE GETEGDVHTS NRLHMVRLML LERLLQTLPQ LRNVGGVRAI PYMQVILMLT
TDLDGEDEKD KGALDNLLSQ LIAELGMDKK DVSKKNERSA LNEVHLVVMR LLSVFMSRTK
SGSKSSICES SSLISSATAA ALLSSGAVDY CLHVLKSLLE YWKSQQNDEE PVATSQLLKP
HTTSSPPDMS PFFLRQYVKG HAADVFEAYT QLLTEMVLRL PYQIKKITDT NSRIPPPVFD
HSWFYFLSEY LMIQQTPFVR RQVRKLLLFI CGSKEKYRQL RDLHTLDSHV RGIKKLLEEQ
GIFLRASVVT ASSGSALQYD TLISLMEHLK ACAEIAAQRT INWQKFCIKD DSVLYFLLQV
SFLVDEGVSP VLLQLLSCAL CGSKVLAALA ASSGSSSASS SSAPVAASSG QATTQSKSST
KKSKKEEKEK EKDGETSGSQ EDQLCTALVN QLNKFADKET LIQFLRCFLL ESNSSSVRWQ
AHCLTLHIYR NSSKSQQELL LDLMWSIWPE LPAYGRKAAQ FVDLLGYFSL KTPQTEKKLK
EYSQKAVEIL RTQNHILTNH PNSNIYNTLS GLVEFDGYYL ESDPCLVCNN PEVPFCYIKL
SSIKVDTRYT TTQQVVKLIG SHTISKVTVK IGDLKRTKMV RTINLYYNNR TVQAIVELKN
KPARWHKAKK VQLTPGQTEV KIDLPLPIVA SNLMIEFADF YENYQASTET LQCPRCSASV
PANPGVCGNC GENVYQCHKC RSINYDEKDP FLCNACGFCK YARFDFMLYA KPCCAVDPIE
NEEDRKKAVS NINTLLDKAD RVYHQLMGHR PQLENLLCKV NEAAPEKPQD DSGTAGGISS
TSASVNRYIL QLAQEYCGDC KNSFDELSKI IQKVFASRKE LLEYDLQQRE AATKSSRTSV
QPTFTASQYR ALSVLGCGHT SSTKCYGCAS AVTEHCITLL RALATNPALR HILVSQGLIR
ELFDYNLRRG AAAMREEVRQ LMCLLTRDNP EATQQMNDLI IGKVSTALKG HWANPDLASS
LQYEMLLLTD SISKEDSCWE LRLRCALSLF LMAVNIKTPV VVENITLMCL RILQKLIKPP
APTSKKNKDV PVEALTTVKP YCNEIHAQAQ LWLKRDPKAS YDAWKKCLPI RGIDGNGKAP
SKSELRHLYL TEKYVWRWKQ FLSRRGKRTS PLDLKLGHNN WLRQVLFTPA TQAARQAACT
IVEALATIPS RKQQVLDLLT SYLDELSIAG ECAAEYLALY QKLITSAHWK VYLAARGVLP
YVGNLITKEI ARLLALEEAT LSTDLQQGYA LKSLTGLLSS FVEVESIKRH FKSRLVGTVL
NGYLCLRKLV VQRTKLIDET QDMLLEMLED MTTGTESETK AFMAVCIETA KRYNLDDYRT
PVFIFERLCS IIYPEENEVT EFFVTLEKDP QQEDFLQGRM PGNPYSSNEP GIGPLMRDIK
NKICQDCDLV ALLEDDSGME LLVNNKIISL DLPVAEVYKK VWCTTNEGEP MRIVYRMRGL
LGDATEEFIE SLDSTTDEEE DEEEVYKMAG VMAQCGGLEC MLNRLAGIRD FKQGRHLLTV
LLKLFSYCVK VKVNRQQLVK LEMNTLNVML GTLNLALVAE QESKDSGGAA VAEQVLSIME
IILDESNAEP LSEDKGNLLL TGDKDQLVML LDQINSTFVR SNPSVLQGLL RIIPYLSFGE
VEKMQILVER FKPYCNFDKY DEDHSGDDKV FLDCFCKIAA GIKNNSNGHQ LKDLILQKGI
TQNALDYMKK HIPSAKNLDA DIWKKFLSRP ALPFILRLLR GLAIQHPGTQ VLIGTDSIPN
LHKLEQVSSD EGIGTLAENL LEALREHPDV NKKIDAARRE TRAEKKRMAM AMRQKALGTL
GMTTNEKGQV VTKTALLKQM EELIEEPGLT CCICREGYKF QPTKVLGIYT FTKRVALEEL
ENKPRKQQGY STVSHFNIVH YDCHLAAVRL ARGREEWESA ALQNANTKCN GLLPVWGPHV
PESAFATCLA RHNTYLQECT GQREPTYQLN IHDIKLLFLR FAMEQSFSAD TGGGGRESNI
HLIPYIIHTV LYVLNTTRAT SREEKNLQGF LEQPKEKWVE SAFEVDGPYY FTVLALHILP
PEQWRATRVE ILRRLLVTSQ ARAVAPGGAT RLTDKAVKDY SAYRSSLLFW ALVDLIYNMF
KKVPTSNTEG GWSCSLAEYI RHNDMPIYEA ADKALKTFQE EFMPVETFSE FLDVAGLLSE
ITDPESFLKD LLNSVP*
speed 0.89 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.750758533413046 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:19413261T>AN/A show variant in all transcripts   IGV
HGNC symbol UBR4
Ensembl transcript ID ENST00000375226
Genbank transcript ID N/A
UniProt peptide Q5T4S7
alteration type single base exchange
alteration region CDS
DNA changes c.14527A>T
cDNA.14531A>T
g.123510A>T
AA changes M4843L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 4843
frameshift no
known variant Reference ID: rs12584
databasehomozygous (A/A)heterozygousallele carriers
1000G93611402076
ExAC21187-960711580
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.4681
0.3220.999
(flanking)1.3171
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased123503wt: 0.73 / mu: 0.92wt: GCCTTGGAGGAGATG
mu: GCCTTGGAGGAGTTG		 CTTG|gagg
distance from splice site 55
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      4843YTFTKRVALEEMENKPRKQQGYST
mutated  all conserved    4843YTFTKRVALEELENKPRKQQGYS
Ptroglodytes  all identical  ENSPTRG00000000257  4867YTFTKRVALEEMENKPRKQQGYS
Mmulatta  all identical  ENSMMUG00000006669  4140YTFTKRVALEEMENKPRKQQGYS
Fcatus  all identical  ENSFCAG00000008769  4805YTFTKRVALEEMENKPRKQQGYS
Mmusculus  all identical  ENSMUSG00000066036  4864YTFTKRVALEEMENKPRKQQGYS
Ggallus  not conserved  ENSGALG00000003910  4885YTFTKRVALEEFENKPRKQQGYS
Trubripes  not conserved  ENSTRUG00000015441  4854YTFTKRVFLEDFENKPRKQQGYS
Drerio  not conserved  ENSDARG00000009549  4836YTFTKRVSLEEFENKPRKQQGYS
Dmelanogaster  not conserved  FBgn0011230  4995YTFTKRCNVEEFELKSRKTIGYT
Celegans  not conserved  C44E4.1  2449YAF---AAIDPDSGKT------S
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 15480 / 15480
position (AA) of stopcodon in wt / mu AA sequence 5160 / 5160
position of stopcodon in wt / mu cDNA 15484 / 15484
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 5 / 5
chromosome 1
strand -1
last intron/exon boundary 15420
theoretical NMD boundary in CDS 15365
length of CDS 15480
coding sequence (CDS) position 14527
cDNA position
(for ins/del: last normal base / first normal base)		 14531
gDNA position
(for ins/del: last normal base / first normal base)		 123510
chromosomal position
(for ins/del: last normal base / first normal base)		 19413261
original gDNA sequence snippet AGCGGGTAGCCTTGGAGGAGATGGAGAATAAGCCCCGGAAA
altered gDNA sequence snippet AGCGGGTAGCCTTGGAGGAGTTGGAGAATAAGCCCCGGAAA
original cDNA sequence snippet AGCGGGTAGCCTTGGAGGAGATGGAGAATAAGCCCCGGAAA
altered cDNA sequence snippet AGCGGGTAGCCTTGGAGGAGTTGGAGAATAAGCCCCGGAAA
wildtype AA sequence MATSGGEEAA AAAPAPGTPA TGADTTPGWE VAVRPLLSAS YSAFEMKELP QLVASVIESE
SEILHHEKQY EPFYSSFVAL STHYITTVCS LIPRNQLQSV AAACKVLIEF SLLRLENPDE
ACAVSQKHLI LLIKGLCTGC SRLDRTEIIT FTAMMKSAKL PQTVKTLSDV EDQKELASPV
SPELRQKEVQ MNFLNQLTSV FNPRTVASQP ISTQTLVEGE NDEQSSTDQA SAIKTKNVFI
AQNVASLQEL GGSEKLLRVC LNLPYFLRYI NRFQDAVLAN SFFIMPATVA DATAVRNGFH
SLVIDVTMAL DTLSLPVLEP LNPSRLQDVT VLSLSCLYAG VSVATCMAIL HVGSAQQVRT
GSTSSKEDDY ESDAATIVQK CLEIYDMIGQ AISSSRRAGG EHYQNFQLLG AWCLLNSLFL
ILNLSPTALA DKGKEKDPLA ALRVRDILSR TKEGVGSPKL GPGKGHQGFG VLSVILANHA
IKLLTSLFQD LQVEALHKGW ETDGPPAALS IMAQSTSIQR IQRLIDSVPL MNLLLTLLST
SYRKACVLQR QRKGSMSSDA SASTDSNTYY EDDFSSTEED SSQDDDSEPI LGQWFEETIS
PSKEKAAPPP PPPPPPLESS PRVKSPSKQA PGEKGNILAS RKDPELFLGL ASNILNFITS
SMLNSRNNFI RNYLSVSLSE HHMATLASII KEVDKDGLKG SSDEEFAAAL YHFNHSLVTS
DLQSPNLQNT LLQQLGVAPF SEGPWPLYIH PQSLSVLSRL LLIWQHKASA QGDPDVPECL
KVWDRFLSTM KQNALQGVVP SETEDLNVEH LQMLLLIFHN FTETGRRAIL SLFVQIIQEL
SVNMDAQMRF VPLILARLLL IFDYLLHQYS KAPVYLFEQV QHNLLSPPFG WASGSQDSNS
RRATTPLYHG FKEVEENWSK HFSSDAVPHP RFYCVLSPEA SEDDLNRLDS VACDVLFSKL
VKYDELYAAL TALLAAGSQL DTVRRKENKN VTALEACALQ YYFLILWRIL GILPPSKTYI
NQLSMNSPEM SECDILHTLR WSSRLRISSY VNWIKDHLIK QGMKAEHASS LLELASTTKC
SSVKYDVEIV EEYFARQISS FCSIDCTTIL QLHEIPSLQS IYTLDAAISK VQVSLDEHFS
KMAAETDPHK SSEITKNLLP ATLQLIDTYA SFTRAYLLQN FNEEGTTEKP SKEKLQGFAA
VLAIGSSRCK ANTLGPTLVQ NLPSSVQTVC ESWNNINTNE FPNIGSWRNA FANDTIPSES
YISAVQAAHL GTLCSQSLPL AASLKHTLLS LVRLTGDLIV WSDEMNPPQV IRTLLPLLLE
SSTESVAEIS SNSLERILGP AESDEFLARV YEKLITGCYN ILANHADPNS GLDESILEEC
LQYLEKQLES SQARKAMEEF FSDSGELVQI MMATANENLS AKFCNRVLKF FTKLFQLTEK
SPNPSLLHLC GSLAQLACVE PVRLQAWLTR MTTSPPKDSD QLDVIQENRQ LLQLLTTYIV
RENSQVGEGV CAVLLGTLTP MATEMLANGD GTGFPELMVV MATLASAGQG AGHLQLHNAA
VDWLSRCKKY LSQKNVVEKL NANVMHGKHV MILECTCHIM SYLADVTNAL SQSNGQGPSH
LSVDGEERAI EVDSDWVEEL AVEEEDSQAE DSDEDSLCNK LCTFTITQKE FMNQHWYHCH
TCKMVDGVGV CTVCAKVCHK DHEISYAKYG SFFCDCGAKE DGSCLALVKR TPSSGMSSTM
KESAFQSEPR ISESLVRHAS TSSPADKAKV TISDGKVADE EKPKKSSLCR TVEGCREELQ
NQANFSFAPL VLDMLNFLMD AIQTNFQQAS AVGSSSRAQQ ALSELHTVEK AVEMTDQLMV
PTLGSQEGAF ENVRMNYSGD QGQTIRQLIS AHVLRRVAMC VLSSPHGRRQ HLAVSHEKGK
ITVLQLSALL KQADSSKRKL TLTRLASAPV PFTVLSLTGN PCKEDYLAVC GLKDCHVLTF
SSSGSVSDHL VLHPQLATGN FIIKAVWLPG SQTELAIVTA DFVKIYDLCV DALSPTFYFL
LPSSKIRDVT FLFNEEGKNI IVIMSSAGYI YTQLMEEASS AQQGPFYVTN VLEINHEDLK
DSNSQVAGGG VSVYYSHVLQ MLFFSYCQGK SFAATISRTT LEVLQLFPIN IKSSNGGSKT
SPALCQWSEV MNHPGLVCCV QQTTGVPLVV MVKPDTFLIQ EIKTLPAKAK IQDMVAIRHT
ACNEQQRTTM ILLCEDGSLR IYMANVENTS YWLQPSLQPS SVISIMKPVR KRKTATITTR
TSSQVTFPID FFEHNQQLTD VEFGGNDLLQ VYNAQQIKHR LNSTGMYVAN TKPGGFTIEI
SNNNSTMVMT GMRIQIGTQA IERAPSYIEI FGRTMQLNLS RSRWFDFPFT REEALQADKK
LNLFIGASVD PAGVTMIDAV KIYGKTKEQF GWPDEPPEEF PSASVSNICP SNLNQSNGTG
DSDSAAPTTT SGTVLESSET ESLTKLDRLV VSSLEALESC FAVGPIIEKE RNKNAAQELA
TLLLSLPAPA SVQQQSKSLL ASLHTSRSAY HSHKDQALLS KAVQCLNTSS KEGKDLDPEV
FQRLVITARS IAIMRPNNLV HFTESKLPQM ETEGMDEGKE PQKQLEGDCC SFITQLVNHF
WKLHASKPKN AFLAPACLPG LTHIEATVNA LVDIIHGYCT CELDCINTAS KIYMQMLLCP
DPAVSFSCKQ ALIRVLRPRN KRRHVTLPSS PRSNTPMGDK DDDDDDDADE KMQSSGIPNG
GHIRQESQEQ SEVDHGDFEM VSESMVLETA ENVNNGNPSP LEALLAGAEG FPPMLDIPPD
ADDETMVELA IALSLQQDQQ APASDDEGST AATDGSTLRT SPADHGGSVG SESGGSAVDS
VAGEHSVSGR SSAYGDATAE GHPAGPGSVS SSTGAISTTT GHQEGDGSEG EGEGETEGDV
HTSNRLHMVR LMLLERLLQT LPQLRNVGGV RAIPYMQVIL MLTTDLDGED EKDKGALDNL
LSQLIAELGM DKKDVSKKNE RSALNEVHLV VMRLLSVFMS RTKSGSKSSI CESSSLISSA
TAAALLSSGA VDYCLHVLKS LLEYWKSQQN DEEPVATSQL LKPHTTSSPP DMSPFFLRQY
VKGHAADVFE AYTQLLTEMV LRLPYQIKKI TDTNSRIPPP VFDHSWFYFL SEYLMIQQTP
FVRRQVRKLL LFICGSKEKY RQLRDLHTLD SHVRGIKKLL EEQGIFLRAS VVTASSGSAL
QYDTLISLME HLKACAEIAA QRTINWQKFC IKDDSVLYFL LQVSFLVDEG VSPVLLQLLS
CALCGSKVLA ALAASSGSSS ASSSSAPVAA SSGQATTQSK SSTKKSKKEE KEKEKDGETS
GSQEDQLCTA LVNQLNKFAD KETLIQFLRC FLLESNSSSV RWQAHCLTLH IYRNSSKSQQ
ELLLDLMWSI WPELPAYGRK AAQFVDLLGY FSLKTPQTEK KLKEYSQKAV EILRTQNHIL
TNHPNSNIYN TLSGLVEFDG YYLESDPCLV CNNPEVPFCY IKLSSIKVDT RYTTTQQVVK
LIGSHTISKV TVKIGDLKRT KMVRTINLYY NNRTVQAIVE LKNKPARWHK AKKVQLTPGQ
TEVKIDLPLP IVASNLMIEF ADFYENYQAS TETLQCPRCS ASVPANPGVC GNCGENVYQC
HKCRSINYDE KDPFLCNACG FCKYARFDFM LYAKPCCAVD PIENEEDRKK AVSNINTLLD
KADRVYHQLM GHRPQLENLL CKVNEAAPEK PQDDSGTAGG ISSTSASVNR YILQLAQEYC
GDCKNSFDEL SKIIQKVFAS RKELLEYDLQ QREAATKSSR TSVQPTFTAS QYRALSVLGC
GHTSSTKCYG CASAVTEHCI TLLRALATNP ALRHILVSQG LIRELFDYNL RRGAAAMREE
VRQLMCLLTR DNPEATQQMN DLIIGKVSTA LKGHWANPDL ASSLQYEMLL LTDSISKEDS
CWELRLRCAL SLFLMAVNIK TPVVVENITL MCLRILQKLI KPPAPTSKKN KDVPVEALTT
VKPYCNEIHA QAQLWLKRDP KASYDAWKKC LPIRGIDGNG KAPSKSELRH LYLTEKYVWR
WKQFLSRRGK RTSPLDLKLG HNNWLRQVLF TPATQAARQA ACTIVEALAT IPSRKQQVLD
LLTSYLDELS IAGECAAEYL ALYQKLITSA HWKVYLAARG VLPYVGNLIT KEIARLLALE
EATLSTDLQQ GYALKSLTGL LSSFVEVESI KRHFKSRLVG TVLNGYLCLR KLVVQRTKLI
DETQDMLLEM LEDMTTGTES ETKAFMAVCI ETAKRYNLDD YRTPVFIFER LCSIIYPEEN
EVTEFFVTLE KDPQQEDFLQ GRMPGNPYSS NEPGIGPLMR DIKNKICQDC DLVALLEDDS
GMELLVNNKI ISLDLPVAEV YKKVWCTTNE GEPMRIVYRM RGLLGDATEE FIESLDSTTD
EEEDEEEVYK MAGVMAQCGG LECMLNRLAG IRDFKQGRHL LTVLLKLFSY CVKVKVNRQQ
LVKLEMNTLN VMLGTLNLAL VAEQESKDSG GAAVAEQVLS IMEIILDESN AEPLSEDKGN
LLLTGDKDQL VMLLDQINST FVRSNPSVLQ GLLRIIPYLS FGEVEKMQIL VERFKPYCNF
DKYDEDHSGD DKVFLDCFCK IAAGIKNNSN GHQLKDLILQ KGITQNALDY MKKHIPSAKN
LDADIWKKFL SRPALPFILR LLRGLAIQHP GTQVLIGTDS IPNLHKLEQV SSDEGIGTLA
ENLLEALREH PDVNKKIDAA RRETRAEKKR MAMAMRQKAL GTLGMTTNEK GQVVTKTALL
KQMEELIEEP GLTCCICREG YKFQPTKVLG IYTFTKRVAL EEMENKPRKQ QGYSTVSHFN
IVHYDCHLAA VRLARGREEW ESAALQNANT KCNGLLPVWG PHVPESAFAT CLARHNTYLQ
ECTGQREPTY QLNIHDIKLL FLRFAMEQSF SADTGGGGRE SNIHLIPYII HTVLYVLNTT
RATSREEKNL QGFLEQPKEK WVESAFEVDG PYYFTVLALH ILPPEQWRAT RVEILRRLLV
TSQARAVAPG GATRLTDKAV KDYSAYRSSL LFWALVDLIY NMFKKVPTSN TEGGWSCSLA
EYIRHNDMPI YEAADKALKT FQEEFMPVET FSEFLDVAGL LSEITDPESF LKDLLNSVP*
mutated AA sequence MATSGGEEAA AAAPAPGTPA TGADTTPGWE VAVRPLLSAS YSAFEMKELP QLVASVIESE
SEILHHEKQY EPFYSSFVAL STHYITTVCS LIPRNQLQSV AAACKVLIEF SLLRLENPDE
ACAVSQKHLI LLIKGLCTGC SRLDRTEIIT FTAMMKSAKL PQTVKTLSDV EDQKELASPV
SPELRQKEVQ MNFLNQLTSV FNPRTVASQP ISTQTLVEGE NDEQSSTDQA SAIKTKNVFI
AQNVASLQEL GGSEKLLRVC LNLPYFLRYI NRFQDAVLAN SFFIMPATVA DATAVRNGFH
SLVIDVTMAL DTLSLPVLEP LNPSRLQDVT VLSLSCLYAG VSVATCMAIL HVGSAQQVRT
GSTSSKEDDY ESDAATIVQK CLEIYDMIGQ AISSSRRAGG EHYQNFQLLG AWCLLNSLFL
ILNLSPTALA DKGKEKDPLA ALRVRDILSR TKEGVGSPKL GPGKGHQGFG VLSVILANHA
IKLLTSLFQD LQVEALHKGW ETDGPPAALS IMAQSTSIQR IQRLIDSVPL MNLLLTLLST
SYRKACVLQR QRKGSMSSDA SASTDSNTYY EDDFSSTEED SSQDDDSEPI LGQWFEETIS
PSKEKAAPPP PPPPPPLESS PRVKSPSKQA PGEKGNILAS RKDPELFLGL ASNILNFITS
SMLNSRNNFI RNYLSVSLSE HHMATLASII KEVDKDGLKG SSDEEFAAAL YHFNHSLVTS
DLQSPNLQNT LLQQLGVAPF SEGPWPLYIH PQSLSVLSRL LLIWQHKASA QGDPDVPECL
KVWDRFLSTM KQNALQGVVP SETEDLNVEH LQMLLLIFHN FTETGRRAIL SLFVQIIQEL
SVNMDAQMRF VPLILARLLL IFDYLLHQYS KAPVYLFEQV QHNLLSPPFG WASGSQDSNS
RRATTPLYHG FKEVEENWSK HFSSDAVPHP RFYCVLSPEA SEDDLNRLDS VACDVLFSKL
VKYDELYAAL TALLAAGSQL DTVRRKENKN VTALEACALQ YYFLILWRIL GILPPSKTYI
NQLSMNSPEM SECDILHTLR WSSRLRISSY VNWIKDHLIK QGMKAEHASS LLELASTTKC
SSVKYDVEIV EEYFARQISS FCSIDCTTIL QLHEIPSLQS IYTLDAAISK VQVSLDEHFS
KMAAETDPHK SSEITKNLLP ATLQLIDTYA SFTRAYLLQN FNEEGTTEKP SKEKLQGFAA
VLAIGSSRCK ANTLGPTLVQ NLPSSVQTVC ESWNNINTNE FPNIGSWRNA FANDTIPSES
YISAVQAAHL GTLCSQSLPL AASLKHTLLS LVRLTGDLIV WSDEMNPPQV IRTLLPLLLE
SSTESVAEIS SNSLERILGP AESDEFLARV YEKLITGCYN ILANHADPNS GLDESILEEC
LQYLEKQLES SQARKAMEEF FSDSGELVQI MMATANENLS AKFCNRVLKF FTKLFQLTEK
SPNPSLLHLC GSLAQLACVE PVRLQAWLTR MTTSPPKDSD QLDVIQENRQ LLQLLTTYIV
RENSQVGEGV CAVLLGTLTP MATEMLANGD GTGFPELMVV MATLASAGQG AGHLQLHNAA
VDWLSRCKKY LSQKNVVEKL NANVMHGKHV MILECTCHIM SYLADVTNAL SQSNGQGPSH
LSVDGEERAI EVDSDWVEEL AVEEEDSQAE DSDEDSLCNK LCTFTITQKE FMNQHWYHCH
TCKMVDGVGV CTVCAKVCHK DHEISYAKYG SFFCDCGAKE DGSCLALVKR TPSSGMSSTM
KESAFQSEPR ISESLVRHAS TSSPADKAKV TISDGKVADE EKPKKSSLCR TVEGCREELQ
NQANFSFAPL VLDMLNFLMD AIQTNFQQAS AVGSSSRAQQ ALSELHTVEK AVEMTDQLMV
PTLGSQEGAF ENVRMNYSGD QGQTIRQLIS AHVLRRVAMC VLSSPHGRRQ HLAVSHEKGK
ITVLQLSALL KQADSSKRKL TLTRLASAPV PFTVLSLTGN PCKEDYLAVC GLKDCHVLTF
SSSGSVSDHL VLHPQLATGN FIIKAVWLPG SQTELAIVTA DFVKIYDLCV DALSPTFYFL
LPSSKIRDVT FLFNEEGKNI IVIMSSAGYI YTQLMEEASS AQQGPFYVTN VLEINHEDLK
DSNSQVAGGG VSVYYSHVLQ MLFFSYCQGK SFAATISRTT LEVLQLFPIN IKSSNGGSKT
SPALCQWSEV MNHPGLVCCV QQTTGVPLVV MVKPDTFLIQ EIKTLPAKAK IQDMVAIRHT
ACNEQQRTTM ILLCEDGSLR IYMANVENTS YWLQPSLQPS SVISIMKPVR KRKTATITTR
TSSQVTFPID FFEHNQQLTD VEFGGNDLLQ VYNAQQIKHR LNSTGMYVAN TKPGGFTIEI
SNNNSTMVMT GMRIQIGTQA IERAPSYIEI FGRTMQLNLS RSRWFDFPFT REEALQADKK
LNLFIGASVD PAGVTMIDAV KIYGKTKEQF GWPDEPPEEF PSASVSNICP SNLNQSNGTG
DSDSAAPTTT SGTVLESSET ESLTKLDRLV VSSLEALESC FAVGPIIEKE RNKNAAQELA
TLLLSLPAPA SVQQQSKSLL ASLHTSRSAY HSHKDQALLS KAVQCLNTSS KEGKDLDPEV
FQRLVITARS IAIMRPNNLV HFTESKLPQM ETEGMDEGKE PQKQLEGDCC SFITQLVNHF
WKLHASKPKN AFLAPACLPG LTHIEATVNA LVDIIHGYCT CELDCINTAS KIYMQMLLCP
DPAVSFSCKQ ALIRVLRPRN KRRHVTLPSS PRSNTPMGDK DDDDDDDADE KMQSSGIPNG
GHIRQESQEQ SEVDHGDFEM VSESMVLETA ENVNNGNPSP LEALLAGAEG FPPMLDIPPD
ADDETMVELA IALSLQQDQQ APASDDEGST AATDGSTLRT SPADHGGSVG SESGGSAVDS
VAGEHSVSGR SSAYGDATAE GHPAGPGSVS SSTGAISTTT GHQEGDGSEG EGEGETEGDV
HTSNRLHMVR LMLLERLLQT LPQLRNVGGV RAIPYMQVIL MLTTDLDGED EKDKGALDNL
LSQLIAELGM DKKDVSKKNE RSALNEVHLV VMRLLSVFMS RTKSGSKSSI CESSSLISSA
TAAALLSSGA VDYCLHVLKS LLEYWKSQQN DEEPVATSQL LKPHTTSSPP DMSPFFLRQY
VKGHAADVFE AYTQLLTEMV LRLPYQIKKI TDTNSRIPPP VFDHSWFYFL SEYLMIQQTP
FVRRQVRKLL LFICGSKEKY RQLRDLHTLD SHVRGIKKLL EEQGIFLRAS VVTASSGSAL
QYDTLISLME HLKACAEIAA QRTINWQKFC IKDDSVLYFL LQVSFLVDEG VSPVLLQLLS
CALCGSKVLA ALAASSGSSS ASSSSAPVAA SSGQATTQSK SSTKKSKKEE KEKEKDGETS
GSQEDQLCTA LVNQLNKFAD KETLIQFLRC FLLESNSSSV RWQAHCLTLH IYRNSSKSQQ
ELLLDLMWSI WPELPAYGRK AAQFVDLLGY FSLKTPQTEK KLKEYSQKAV EILRTQNHIL
TNHPNSNIYN TLSGLVEFDG YYLESDPCLV CNNPEVPFCY IKLSSIKVDT RYTTTQQVVK
LIGSHTISKV TVKIGDLKRT KMVRTINLYY NNRTVQAIVE LKNKPARWHK AKKVQLTPGQ
TEVKIDLPLP IVASNLMIEF ADFYENYQAS TETLQCPRCS ASVPANPGVC GNCGENVYQC
HKCRSINYDE KDPFLCNACG FCKYARFDFM LYAKPCCAVD PIENEEDRKK AVSNINTLLD
KADRVYHQLM GHRPQLENLL CKVNEAAPEK PQDDSGTAGG ISSTSASVNR YILQLAQEYC
GDCKNSFDEL SKIIQKVFAS RKELLEYDLQ QREAATKSSR TSVQPTFTAS QYRALSVLGC
GHTSSTKCYG CASAVTEHCI TLLRALATNP ALRHILVSQG LIRELFDYNL RRGAAAMREE
VRQLMCLLTR DNPEATQQMN DLIIGKVSTA LKGHWANPDL ASSLQYEMLL LTDSISKEDS
CWELRLRCAL SLFLMAVNIK TPVVVENITL MCLRILQKLI KPPAPTSKKN KDVPVEALTT
VKPYCNEIHA QAQLWLKRDP KASYDAWKKC LPIRGIDGNG KAPSKSELRH LYLTEKYVWR
WKQFLSRRGK RTSPLDLKLG HNNWLRQVLF TPATQAARQA ACTIVEALAT IPSRKQQVLD
LLTSYLDELS IAGECAAEYL ALYQKLITSA HWKVYLAARG VLPYVGNLIT KEIARLLALE
EATLSTDLQQ GYALKSLTGL LSSFVEVESI KRHFKSRLVG TVLNGYLCLR KLVVQRTKLI
DETQDMLLEM LEDMTTGTES ETKAFMAVCI ETAKRYNLDD YRTPVFIFER LCSIIYPEEN
EVTEFFVTLE KDPQQEDFLQ GRMPGNPYSS NEPGIGPLMR DIKNKICQDC DLVALLEDDS
GMELLVNNKI ISLDLPVAEV YKKVWCTTNE GEPMRIVYRM RGLLGDATEE FIESLDSTTD
EEEDEEEVYK MAGVMAQCGG LECMLNRLAG IRDFKQGRHL LTVLLKLFSY CVKVKVNRQQ
LVKLEMNTLN VMLGTLNLAL VAEQESKDSG GAAVAEQVLS IMEIILDESN AEPLSEDKGN
LLLTGDKDQL VMLLDQINST FVRSNPSVLQ GLLRIIPYLS FGEVEKMQIL VERFKPYCNF
DKYDEDHSGD DKVFLDCFCK IAAGIKNNSN GHQLKDLILQ KGITQNALDY MKKHIPSAKN
LDADIWKKFL SRPALPFILR LLRGLAIQHP GTQVLIGTDS IPNLHKLEQV SSDEGIGTLA
ENLLEALREH PDVNKKIDAA RRETRAEKKR MAMAMRQKAL GTLGMTTNEK GQVVTKTALL
KQMEELIEEP GLTCCICREG YKFQPTKVLG IYTFTKRVAL EELENKPRKQ QGYSTVSHFN
IVHYDCHLAA VRLARGREEW ESAALQNANT KCNGLLPVWG PHVPESAFAT CLARHNTYLQ
ECTGQREPTY QLNIHDIKLL FLRFAMEQSF SADTGGGGRE SNIHLIPYII HTVLYVLNTT
RATSREEKNL QGFLEQPKEK WVESAFEVDG PYYFTVLALH ILPPEQWRAT RVEILRRLLV
TSQARAVAPG GATRLTDKAV KDYSAYRSSL LFWALVDLIY NMFKKVPTSN TEGGWSCSLA
EYIRHNDMPI YEAADKALKT FQEEFMPVET FSEFLDVAGL LSEITDPESF LKDLLNSVP*
speed 0.85 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.750758533413046 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:19413261T>AN/A show variant in all transcripts   IGV
HGNC symbol UBR4
Ensembl transcript ID ENST00000543981
Genbank transcript ID N/A
UniProt peptide Q5T4S7
alteration type single base exchange
alteration region CDS
DNA changes c.1591A>T
cDNA.1603A>T
g.123510A>T
AA changes M531L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 531
frameshift no
known variant Reference ID: rs12584
databasehomozygous (A/A)heterozygousallele carriers
1000G93611402076
ExAC21187-960711580
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.4681
0.3220.999
(flanking)1.3171
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased123503wt: 0.73 / mu: 0.92wt: GCCTTGGAGGAGATG
mu: GCCTTGGAGGAGTTG		 CTTG|gagg
distance from splice site 55
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      531YTFTKRVALEEMENKPRKQQGYST
mutated  all conserved    531YTFTKRVALEELENKPRKQQG
Ptroglodytes  all identical  ENSPTRG00000000257  4867YTFTKRVALEEMENKPRKQQGYS
Mmulatta  all identical  ENSMMUG00000006669  4140YTFTKRVALEEMENKPRKQQGYS
Fcatus  all identical  ENSFCAG00000008769  4805YTFTKRVALEEMENKPRKQQGYS
Mmusculus  all identical  ENSMUSG00000066036  4864YTFTKRVALEEMENKPRKQQGYS
Ggallus  not conserved  ENSGALG00000003910  4885YTFTKRVALEEFENKPRKQQGYS
Trubripes  not conserved  ENSTRUG00000015441  4854YTFTKRVFLEDFENKPRKQQGYS
Drerio  not conserved  ENSDARG00000009549  4836YTFTKRVSLEEFENKPRKQQGYS
Dmelanogaster  not conserved  FBgn0011230  4995YTFTKRCNVEEFELKSRKTIGYT
Celegans  not conserved  C44E4.1  2449YAF---AAIDPDSGKT------S
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
608631COMPBIASPro-rich.might get lost (downstream of altered splice site)
619619MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
620620MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
850870TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
9931013TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
10841084MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
16561729ZN_FINGUBR-type.might get lost (downstream of altered splice site)
20162016CONFLICTA -> S (in Ref. 1; AAL83880).might get lost (downstream of altered splice site)
24102410CONFLICTD -> E (in Ref. 1; AAL83880).might get lost (downstream of altered splice site)
27152715MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
27182718MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
27192719MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
27222722MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
27242724MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
27282738COMPBIASPoly-Asp.might get lost (downstream of altered splice site)
33393370COMPBIASSer-rich.might get lost (downstream of altered splice site)
39573957CONFLICTG -> S (in Ref. 1; AAL83880).might get lost (downstream of altered splice site)
45894589CONFLICTG -> V (in Ref. 7; AAH18694).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2544 / 2544
position (AA) of stopcodon in wt / mu AA sequence 848 / 848
position of stopcodon in wt / mu cDNA 2556 / 2556
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 13 / 13
chromosome 1
strand -1
last intron/exon boundary 2492
theoretical NMD boundary in CDS 2429
length of CDS 2544
coding sequence (CDS) position 1591
cDNA position
(for ins/del: last normal base / first normal base)		 1603
gDNA position
(for ins/del: last normal base / first normal base)		 123510
chromosomal position
(for ins/del: last normal base / first normal base)		 19413261
original gDNA sequence snippet AGCGGGTAGCCTTGGAGGAGATGGAGAATAAGCCCCGGAAA
altered gDNA sequence snippet AGCGGGTAGCCTTGGAGGAGTTGGAGAATAAGCCCCGGAAA
original cDNA sequence snippet AGCGGGTAGCCTTGGAGGAGATGGAGAATAAGCCCCGGAAA
altered cDNA sequence snippet AGCGGGTAGCCTTGGAGGAGTTGGAGAATAAGCCCCGGAAA
wildtype AA sequence MAVCIETAKR YNLDDYRTPV FIFERLCSII YPEENEVTEF FVTLEKDPQQ EDFLQGRMPG
NPYSSNEPGI GPLMRDIKNK ICQDCDLVAL LEDDSGMEGE PMRIVYRMRG LLGDATEEFI
ESLDSTTDEE EDEEEVYKMA GVMAQCGGLE CMLNRLAGIR DFKQGRHLLT VLLKLFSYCV
KVKVNRQQLV KLEMNTLNVM LGTLNLALVA EQESKDSGGA AVAEQVLSIM EIILDESNAE
PLSEDKGNLL LTGDKDQLVM LLDQINSTFV RSNPSVLQGL LRIIPYLSFG EVEKMQILVE
RFKPYCNFDK YDEDHSGDDK VFLDCFCKIA AGIKNNSNGH QLKDLILQKG ITQNALDYMK
KHIPSAKNLD ADIWKKFLSR PALPFILRLL RGLAIQHPGT QVLIGTDSIP NLHKLEQVSS
DEGIGTLAEN LLEALREHPD VNKKIDAARR ETRAEKKRMA MAMRQKALGT LGMTTNEKGQ
VVTKTALLKQ MEELIEEPGL TCCICREGYK FQPTKVLGIY TFTKRVALEE MENKPRKQQG
YSTVSHFNIV HYDCHLAAVR LARGREEWES AALQNANTKC NGLLPVWGPH VPESAFATCL
ARHNTYLQEC TGQREPTYQL NIHDIKLLFL RFAMEQSFSA DTGGGGRESN IHLIPYIIHT
VLYVLNTTRA TSREEKNLQG FLEQPKEKWV ESAFEVDGPY YFTVLALHIL PPEQWRATRV
EILRRLLVTS QARAVAPGGA TRLTDKAVKD YSAYRSSLLF WALVDLIYNM FKKVPTSNTE
GGWSCSLAEY IRHNDMPIYE AADKALKTFQ EEFMPVETFS EFLDVAGLLS EITDPESFLK
DLLNSVP*
mutated AA sequence MAVCIETAKR YNLDDYRTPV FIFERLCSII YPEENEVTEF FVTLEKDPQQ EDFLQGRMPG
NPYSSNEPGI GPLMRDIKNK ICQDCDLVAL LEDDSGMEGE PMRIVYRMRG LLGDATEEFI
ESLDSTTDEE EDEEEVYKMA GVMAQCGGLE CMLNRLAGIR DFKQGRHLLT VLLKLFSYCV
KVKVNRQQLV KLEMNTLNVM LGTLNLALVA EQESKDSGGA AVAEQVLSIM EIILDESNAE
PLSEDKGNLL LTGDKDQLVM LLDQINSTFV RSNPSVLQGL LRIIPYLSFG EVEKMQILVE
RFKPYCNFDK YDEDHSGDDK VFLDCFCKIA AGIKNNSNGH QLKDLILQKG ITQNALDYMK
KHIPSAKNLD ADIWKKFLSR PALPFILRLL RGLAIQHPGT QVLIGTDSIP NLHKLEQVSS
DEGIGTLAEN LLEALREHPD VNKKIDAARR ETRAEKKRMA MAMRQKALGT LGMTTNEKGQ
VVTKTALLKQ MEELIEEPGL TCCICREGYK FQPTKVLGIY TFTKRVALEE LENKPRKQQG
YSTVSHFNIV HYDCHLAAVR LARGREEWES AALQNANTKC NGLLPVWGPH VPESAFATCL
ARHNTYLQEC TGQREPTYQL NIHDIKLLFL RFAMEQSFSA DTGGGGRESN IHLIPYIIHT
VLYVLNTTRA TSREEKNLQG FLEQPKEKWV ESAFEVDGPY YFTVLALHIL PPEQWRATRV
EILRRLLVTS QARAVAPGGA TRLTDKAVKD YSAYRSSLLF WALVDLIYNM FKKVPTSNTE
GGWSCSLAEY IRHNDMPIYE AADKALKTFQ EEFMPVETFS EFLDVAGLLS EITDPESFLK
DLLNSVP*
speed 0.80 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.750758533413046 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:19413261T>AN/A show variant in all transcripts   IGV
HGNC symbol UBR4
Ensembl transcript ID ENST00000429347
Genbank transcript ID N/A
UniProt peptide Q5T4S7
alteration type single base exchange
alteration region CDS
DNA changes c.1168A>T
cDNA.1236A>T
g.123510A>T
AA changes M390L Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 390
frameshift no
known variant Reference ID: rs12584
databasehomozygous (A/A)heterozygousallele carriers
1000G93611402076
ExAC21187-960711580
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.4681
0.3220.999
(flanking)1.3171
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased123503wt: 0.73 / mu: 0.92wt: GCCTTGGAGGAGATG
mu: GCCTTGGAGGAGTTG		 CTTG|gagg
distance from splice site 55
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      390YTFTKRVALEEMENKPRKQQGYST
mutated  all conserved    390YTFTKRVALEELENKPRKQQGYS
Ptroglodytes  all identical  ENSPTRG00000000257  4867FTKRVALEEMENKPRKQQGYS
Mmulatta  all identical  ENSMMUG00000006669  4140FTKRVALEEMENKPRKQQGYS
Fcatus  all identical  ENSFCAG00000008769  4805FTKRVALEEMENKPRKQQGYS
Mmusculus  all identical  ENSMUSG00000066036  4864FTKRVALEEMENKPRKQQGYS
Ggallus  not conserved  ENSGALG00000003910  4885FTKRVALEEFENKPRKQQGYS
Trubripes  not conserved  ENSTRUG00000015441  4854TKRVFLEDFENKPRKQQGYS
Drerio  not conserved  ENSDARG00000009549  4836FTKRVSLEEFENKPRKQQGYS
Dmelanogaster  not conserved  FBgn0011230  4995TFTKRCNVEEFELKSRKTIGYT
Celegans  not conserved  C44E4.1  2449YAF---AAIDPDSGKT------S
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
608631COMPBIASPro-rich.might get lost (downstream of altered splice site)
619619MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
620620MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
850870TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
9931013TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
10841084MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
16561729ZN_FINGUBR-type.might get lost (downstream of altered splice site)
20162016CONFLICTA -> S (in Ref. 1; AAL83880).might get lost (downstream of altered splice site)
24102410CONFLICTD -> E (in Ref. 1; AAL83880).might get lost (downstream of altered splice site)
27152715MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
27182718MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
27192719MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
27222722MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
27242724MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
27282738COMPBIASPoly-Asp.might get lost (downstream of altered splice site)
33393370COMPBIASSer-rich.might get lost (downstream of altered splice site)
39573957CONFLICTG -> S (in Ref. 1; AAL83880).might get lost (downstream of altered splice site)
45894589CONFLICTG -> V (in Ref. 7; AAH18694).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2121 / 2121
position (AA) of stopcodon in wt / mu AA sequence 707 / 707
position of stopcodon in wt / mu cDNA 2189 / 2189
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 69 / 69
chromosome 1
strand -1
last intron/exon boundary 2125
theoretical NMD boundary in CDS 2006
length of CDS 2121
coding sequence (CDS) position 1168
cDNA position
(for ins/del: last normal base / first normal base)		 1236
gDNA position
(for ins/del: last normal base / first normal base)		 123510
chromosomal position
(for ins/del: last normal base / first normal base)		 19413261
original gDNA sequence snippet AGCGGGTAGCCTTGGAGGAGATGGAGAATAAGCCCCGGAAA
altered gDNA sequence snippet AGCGGGTAGCCTTGGAGGAGTTGGAGAATAAGCCCCGGAAA
original cDNA sequence snippet AGCGGGTAGCCTTGGAGGAGATGGAGAATAAGCCCCGGAAA
altered cDNA sequence snippet AGCGGGTAGCCTTGGAGGAGTTGGAGAATAAGCCCCGGAAA
wildtype AA sequence MRIVYRMRGL LGDATEEFIE SLDSTTDEEE DEEEVYKMAG VMAQCGGLEC MLNRLAGIRD
FKQGRHLLTV LLKLFSYCVK VKVNRQQLVK LEMNTLNVML GTLNLGNLLL TGDKDQLVML
LDQINSTFVR SNPSVLQGLL RIIPYLSFGE VEKMQILVER FKPYCNFDKY DEDHSGDDKV
FLDCFCKIAA GIKNNSNGHQ LKDLILQKGI TQNALDYMKK HIPSAKNLDA DIWKKFLSRP
ALPFILRLLR GLAIQHPGTQ VLIGTDSIPN LHKLEQVSSD EGIGTLAENL LEALREHPDV
NKKIDAARRE TRAEKKRMAM AMRQKALGTL GMTTNEKGQV VTKTALLKQM EELIEEPGLT
CCICREGYKF QPTKVLGIYT FTKRVALEEM ENKPRKQQGY STVSHFNIVH YDCHLAAVRL
ARGREEWESA ALQNANTKCN GLLPVWGPHV PESAFATCLA RHNTYLQECT GQREPTYQLN
IHDIKLLFLR FAMEQSFSAD TGGGGRESNI HLIPYIIHTV LYVLNTTRAT SREEKNLQGF
LEQPKEKWVE SAFEVDGPYY FTVLALHILP PEQWRATRVE ILRRLLVTSQ ARAVAPGGAT
RLTDKAVKDY SAYRSSLLFW ALVDLIYNMF KKVPTSNTEG GWSCSLAEYI RHNDMPIYEA
ADKALKTFQE EFMPVETFSE FLDVAGLLSE ITDPESFLKD LLNSVP*
mutated AA sequence MRIVYRMRGL LGDATEEFIE SLDSTTDEEE DEEEVYKMAG VMAQCGGLEC MLNRLAGIRD
FKQGRHLLTV LLKLFSYCVK VKVNRQQLVK LEMNTLNVML GTLNLGNLLL TGDKDQLVML
LDQINSTFVR SNPSVLQGLL RIIPYLSFGE VEKMQILVER FKPYCNFDKY DEDHSGDDKV
FLDCFCKIAA GIKNNSNGHQ LKDLILQKGI TQNALDYMKK HIPSAKNLDA DIWKKFLSRP
ALPFILRLLR GLAIQHPGTQ VLIGTDSIPN LHKLEQVSSD EGIGTLAENL LEALREHPDV
NKKIDAARRE TRAEKKRMAM AMRQKALGTL GMTTNEKGQV VTKTALLKQM EELIEEPGLT
CCICREGYKF QPTKVLGIYT FTKRVALEEL ENKPRKQQGY STVSHFNIVH YDCHLAAVRL
ARGREEWESA ALQNANTKCN GLLPVWGPHV PESAFATCLA RHNTYLQECT GQREPTYQLN
IHDIKLLFLR FAMEQSFSAD TGGGGRESNI HLIPYIIHTV LYVLNTTRAT SREEKNLQGF
LEQPKEKWVE SAFEVDGPYY FTVLALHILP PEQWRATRVE ILRRLLVTSQ ARAVAPGGAT
RLTDKAVKDY SAYRSSLLFW ALVDLIYNMF KKVPTSNTEG GWSCSLAEYI RHNDMPIYEA
ADKALKTFQE EFMPVETFSE FLDVAGLLSE ITDPESFLKD LLNSVP*
speed 0.83 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

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