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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000503581
Querying Taster for transcript #2: ENST00000370621
Querying Taster for transcript #3: ENST00000370616
MT speed 2.55 s - this script 3.856061 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
EYSpolymorphism_automatic2.87022394740433e-09simple_aaeaffectedR2326Qsingle base exchangers4710457show file
EYSpolymorphism_automatic2.87022394740433e-09simple_aaeaffectedR2326Qsingle base exchangers4710457show file
EYSpolymorphism_automatic2.87022394740433e-09simple_aaeaffectedR2326Qsingle base exchangers4710457show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999997129776 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:64694354C>TN/A show variant in all transcripts   IGV
HGNC symbol EYS
Ensembl transcript ID ENST00000503581
Genbank transcript ID NM_001142800
UniProt peptide Q5T1H1
alteration type single base exchange
alteration region CDS
DNA changes c.6977G>A
cDNA.7515G>A
g.1722765G>A
AA changes R2326Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2326
frameshift no
known variant Reference ID: rs4710457
databasehomozygous (T/T)heterozygousallele carriers
1000G32111091430
ExAC149050866576
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.2470
0.2790.128
(flanking)1.4490.457
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased1722759wt: 0.5785 / mu: 0.6101 (marginal change - not scored)wt: AGAATTCTTCATCATCGATGAAGCACGACATGGAAAGAATA
mu: AGAATTCTTCATCATCGATGAAGCACAACATGGAAAGAATA		 atga|AGCA
Donor increased1722768wt: 0.28 / mu: 0.44wt: ACGACATGGAAAGAA
mu: ACAACATGGAAAGAA		 GACA|tgga
Donor marginally increased1722769wt: 0.9974 / mu: 0.9974 (marginal change - not scored)wt: CGACATGGAAAGAAT
mu: CAACATGGAAAGAAT		 ACAT|ggaa
distance from splice site 79
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2326NNKEFFIIDEARHGKNIENCHVPW
mutated  all conserved    2326NNKEFFIIDEAQHGKNIENCHVP
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no alignment  F41G3.12  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
21452339DOMAINLaminin G-like 2.lost
23352368DOMAINEGF-like 22.might get lost (downstream of altered splice site)
23392339DISULFIDBy similarity.might get lost (downstream of altered splice site)
23442344DISULFIDBy similarity.might get lost (downstream of altered splice site)
23502350DISULFIDBy similarity.might get lost (downstream of altered splice site)
23592359DISULFIDBy similarity.might get lost (downstream of altered splice site)
23712408DOMAINEGF-like 23.might get lost (downstream of altered splice site)
23752375DISULFIDBy similarity.might get lost (downstream of altered splice site)
23802380DISULFIDBy similarity.might get lost (downstream of altered splice site)
23862386DISULFIDBy similarity.might get lost (downstream of altered splice site)
23962396DISULFIDBy similarity.might get lost (downstream of altered splice site)
23982398DISULFIDBy similarity.might get lost (downstream of altered splice site)
24072407DISULFIDBy similarity.might get lost (downstream of altered splice site)
24192609DOMAINLaminin G-like 3.might get lost (downstream of altered splice site)
24412441CONFLICTH -> R (in Ref. 1; CAR64275).might get lost (downstream of altered splice site)
24662466CONFLICTG -> E (in Ref. 1; CAR64275).might get lost (downstream of altered splice site)
25762576DISULFIDBy similarity.might get lost (downstream of altered splice site)
26092609DISULFIDBy similarity.might get lost (downstream of altered splice site)
26102646DOMAINEGF-like 24.might get lost (downstream of altered splice site)
26142614DISULFIDBy similarity.might get lost (downstream of altered splice site)
26192619DISULFIDBy similarity.might get lost (downstream of altered splice site)
26252625DISULFIDBy similarity.might get lost (downstream of altered splice site)
26342634DISULFIDBy similarity.might get lost (downstream of altered splice site)
26362636DISULFIDBy similarity.might get lost (downstream of altered splice site)
26452645DISULFIDBy similarity.might get lost (downstream of altered splice site)
26482689DOMAINEGF-like 25.might get lost (downstream of altered splice site)
26522652DISULFIDBy similarity.might get lost (downstream of altered splice site)
26622662DISULFIDBy similarity.might get lost (downstream of altered splice site)
26682668DISULFIDBy similarity.might get lost (downstream of altered splice site)
26772677DISULFIDBy similarity.might get lost (downstream of altered splice site)
26792679DISULFIDBy similarity.might get lost (downstream of altered splice site)
26882688DISULFIDBy similarity.might get lost (downstream of altered splice site)
27172895DOMAINLaminin G-like 4.might get lost (downstream of altered splice site)
28682868DISULFIDBy similarity.might get lost (downstream of altered splice site)
28952895DISULFIDBy similarity.might get lost (downstream of altered splice site)
28962932DOMAINEGF-like 26.might get lost (downstream of altered splice site)
29002900DISULFIDBy similarity.might get lost (downstream of altered splice site)
29052905DISULFIDBy similarity.might get lost (downstream of altered splice site)
29112911DISULFIDBy similarity.might get lost (downstream of altered splice site)
29202920DISULFIDBy similarity.might get lost (downstream of altered splice site)
29222922DISULFIDBy similarity.might get lost (downstream of altered splice site)
29312931DISULFIDBy similarity.might get lost (downstream of altered splice site)
29332970DOMAINEGF-like 27.might get lost (downstream of altered splice site)
29372937DISULFIDBy similarity.might get lost (downstream of altered splice site)
29422942DISULFIDBy similarity.might get lost (downstream of altered splice site)
29482948DISULFIDBy similarity.might get lost (downstream of altered splice site)
29582958DISULFIDBy similarity.might get lost (downstream of altered splice site)
29602960DISULFIDBy similarity.might get lost (downstream of altered splice site)
29692969DISULFIDBy similarity.might get lost (downstream of altered splice site)
29753165DOMAINLaminin G-like 5.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 9435 / 9435
position (AA) of stopcodon in wt / mu AA sequence 3145 / 3145
position of stopcodon in wt / mu cDNA 9973 / 9973
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 539 / 539
chromosome 6
strand -1
last intron/exon boundary 8772
theoretical NMD boundary in CDS 8183
length of CDS 9435
coding sequence (CDS) position 6977
cDNA position
(for ins/del: last normal base / first normal base)		 7515
gDNA position
(for ins/del: last normal base / first normal base)		 1722765
chromosomal position
(for ins/del: last normal base / first normal base)		 64694354
original gDNA sequence snippet CTTCATCATCGATGAAGCACGACATGGAAAGAATATTGAGA
altered gDNA sequence snippet CTTCATCATCGATGAAGCACAACATGGAAAGAATATTGAGA
original cDNA sequence snippet CTTCATCATCGATGAAGCACGACATGGAAAGAATATTGAGA
altered cDNA sequence snippet CTTCATCATCGATGAAGCACAACATGGAAAGAATATTGAGA
wildtype AA sequence MTDKSIVILS LMVFHSSFIN GKTCRRQLVE EWHPQPSSYV VNWTLTENIC LDFYRDCWFL
GVNTKIDTSG NQAVPQICPL QIQLGDILVI SSEPSLQFPE INLMNVSETS FVGCVQNTTT
EDQLLFGCRL KGMHTVNSKW LSVGTHYFIT VMASGPSPCP LGLRLNVTVK QQFCQESLSS
EFCSGHGKCL SEAWSKTYSC HCQPPFSGKY CQELDACSFK PCKNNGSCIN KRENWDEQAY
ECVCHPPFTG KNCSEIIGQC QPHVCFHGNC SNITSNSFIC ECDEQFSGPF CEVSAKPCVS
LLFWKRGICP NSSSAYTYEC PKGSSSQNGE TDVSEFSLVP CQNGTDCIKI SNDVMCICSP
IFTDLLCKSI QTSCESFPLR NNATCKKCEK DYPCSCISGF TEKNCEKAID HCKLLSINCL
NEEWCFNIIG RFKYVCIPGC TKNPCWFLKN VYLIHQHLCY CGVTFHGICQ DKGPAQFEYV
WQLGFAGSEG EKCQGVIDAY FFLAANCTED ATYVNDPEDN NSSCWFPHEG TKEICANGCS
CLSEEDSQEY RYLCFLRWAG NMYLENTTDD QENECQHEAV CKDEINRPRC SCSLSYIGRL
CVVNVDYCLG NHSISVHGLC LALSHNCNCS GLQRYERNIC EIDTEDCKSA SCKNGTTSTH
LRGYFFRKCV PGFKGTQCEI DIDECASHPC KNGATCIDQP GNYFCQCVPP FKVVDGFSCL
CNPGYVGIRC EQDIDDCILN ACEHNSTCKD LHLSYQCVCL SDWEGNFCEQ ESNECKMNPC
KNNSTCTDLY KSYRCECTSG WTGQNCSEEI NECDSDPCMN GGLCHESTIP GQFVCLCPPL
YTGQFCHQRY NLCDLLHNPC RNNSTCLALV DANQHCICRE EFEGKNCEID VKDCLFLSCQ
DYGDCEDMVN NFRCICRPGF SGSLCEIEIN ECSSEPCKNN GTCVDLTNRF FCNCEPEYHG
PFCELDVNKC KISPCLDEEN CVYRTDGYNC LCAPGYTGIN CEINLDECLS EPCLHDGVCI
DGINHYTCDC KSGFFGTHCE TNANDCLSNP CLHGRCTELI NEYPCSCDAD GTSTQCKIKI
NDCTSIPCMN EGFCQKSAHG FTCICPRGYT GAYCEKSIDN CAEPELNSVI CLNGGICVDG
PGHTFDCRCL PGFSGQFCEI NINECSSSPC LHGADCEDHI NGYVCKCQPG WSGHHCENEL
ECIPNSCVHE LCMENEPGST CLCTPGFMTC SIGLLCGDEI RRITCLTPIF QRTDPISTQT
YTIPPSETLV SSFPSIKATR IPAIMDTYPV DQGPKQTGIV KHDILPTTGL ATLRISTPLE
SYLLQELIVT RELSAKHSLL SSADVSSSRF LNFGIRDPAQ IVQDKTSVSH MPIRTSAATL
GFFFPDRRAR TPFIMSSLMS DFIFPTQSLL FENCQTVALS ATPTTSVIRS IPGADIELNR
QSLLSRGFLL IAASISATPV VSRGAQEDIE EYSADSLISR REHWRLLSPS MSPIFPAKVI
ISKQVTILNS SALHRFSTKA FNPSEYQAIT EASSNQRLTN IKSQAADSLR ELSQTCATCS
MTEIKSSREF SDQVLHSKQS HFYETFWMNS AILASWYALM GAQTITSGHS FSSATEITPS
VAFTEVPSLF PSKKSAKRTI LSSSLEESIT LSSNLDVNLC LDKTCLSIVP SQTISSDLMN
SDLTSKMTTD ELSVSENILK LLKIRQYGIT MGPTEVLNQE SLLDMEKSKG SHTLFKLHPS
DSSLDFELNL QIYPDVTLKT YSEITHANDF KNNLPPLTGS VPDFSEVTTN VAFYTVSATP
ALSIQTSSSM SVIRPDWPYF TDYMTSLKKE VKTSSEWSKW ELQPSVQYQE FPTASRHLPF
TRSLTLSSLE SILAPQRLMI SDFSCVRYYG DSYLEFQNVA LNPQNNISLE FQTFSSYGLL
LYVKQDSNLV DGFFIQLFIE NGTLKYHFYC PGEAKFKSIN TTVRVDNGQK YTLLIRQELD
PCNAELTILG RNTQICESIN HVLGKPLPKS GSVFIGGFPD LHGKIQMPVP VKNFTGCIEV
IEINNWRSFI PSKAVKNYHI NNCRSQGFML SPTASFVDAS DVTQGVDTMW TSVSPSVAAP
SVCQQDVCHN GGTCHAIFLS SGIVSFQCDC PLHFTGRFCE KDAGLFFPSF NGNSYLELPF
LKFVLEKEHN RTVTIYLTIK TNSLNGTILY SNGNNCGKQF LHLFLVEGRP SVKYGCGNSQ
NILTVSANYS INTNAFTPIT IRYTTPVGSP GVVCMIEMTA DGKPPVQKKD TEISHASQAY
FESMFLGHIP ANVQIHKKAG PVYGFRGCIL DLQVNNKEFF IIDEARHGKN IENCHVPWCA
HHLCRNNGTC ISDNENLFCE CPRLYSGKLC QFASCENNPC GNGATCVPKS GTDIVCLCPY
GRSGPLCTDA INITQPRFSG TDAFGYTSFL AYSRISDISF HYEFHLKFQL ANNHSALQNN
LIFFTGQKGH GLNGDDFLAV GLLNGSVVYS YNLGSGIASI RSEPLNLSLG VHTVHLGKFF
QEGWLKVDDH KNKSIIAPGR LVGLNVFSQF YVGGYSEYTP DLLPNGADFK NGFQGCIFTL
QVRTEKDGHF RGLGNPEGHP NAGRSVGQCH ASPCSLMKCG NGGTCIESGT SVYCNCTTGW
KGSFCTETVS TCDPEHDPPH HCSRGATCIS LPHGYTCFCP LGTTGIYCEQ ALSISDPSFR
SNELSWMSFA SFHVRKKTHI QLQFQPLAAD GILFYAAQHL KAQSGDFLCI SLVNSSVQLR
YNLGDRTIIL ETLQKVTING STWHIIKAGR VGAEGYLDLD GINVTEKAST KMSSLDTNTD
FYIGGVSSLN LVNPMAIENE PVGFQGCIRQ VIINNQELQL TEFGAKGGSN VGDCDGTACG
YNTCRNGGEC TVNGTTFSCR CLPDWAGNTC NQSVSCLNNL CLHQSLCIPD QSFSYSCLCT
LGWVGRYCEN KTSFSTAKFM GNSYIKYIDP NYRMRNLQFT TISLNFSTTK TEGLIVWMGI
AQNEENDFLA IGLHNQTLKI AVNLGERISV PMSYNNGTFC CNKWHHVVVI QNQTLIKAYI
NNSLILSEDI DPHKNFVALN YDGICYLGGF EYGRKVNIVT QEIFKTNFVG KIKDVVFFQE
PKNIELIKLE GYNVYDGDEQ NEVT*
mutated AA sequence MTDKSIVILS LMVFHSSFIN GKTCRRQLVE EWHPQPSSYV VNWTLTENIC LDFYRDCWFL
GVNTKIDTSG NQAVPQICPL QIQLGDILVI SSEPSLQFPE INLMNVSETS FVGCVQNTTT
EDQLLFGCRL KGMHTVNSKW LSVGTHYFIT VMASGPSPCP LGLRLNVTVK QQFCQESLSS
EFCSGHGKCL SEAWSKTYSC HCQPPFSGKY CQELDACSFK PCKNNGSCIN KRENWDEQAY
ECVCHPPFTG KNCSEIIGQC QPHVCFHGNC SNITSNSFIC ECDEQFSGPF CEVSAKPCVS
LLFWKRGICP NSSSAYTYEC PKGSSSQNGE TDVSEFSLVP CQNGTDCIKI SNDVMCICSP
IFTDLLCKSI QTSCESFPLR NNATCKKCEK DYPCSCISGF TEKNCEKAID HCKLLSINCL
NEEWCFNIIG RFKYVCIPGC TKNPCWFLKN VYLIHQHLCY CGVTFHGICQ DKGPAQFEYV
WQLGFAGSEG EKCQGVIDAY FFLAANCTED ATYVNDPEDN NSSCWFPHEG TKEICANGCS
CLSEEDSQEY RYLCFLRWAG NMYLENTTDD QENECQHEAV CKDEINRPRC SCSLSYIGRL
CVVNVDYCLG NHSISVHGLC LALSHNCNCS GLQRYERNIC EIDTEDCKSA SCKNGTTSTH
LRGYFFRKCV PGFKGTQCEI DIDECASHPC KNGATCIDQP GNYFCQCVPP FKVVDGFSCL
CNPGYVGIRC EQDIDDCILN ACEHNSTCKD LHLSYQCVCL SDWEGNFCEQ ESNECKMNPC
KNNSTCTDLY KSYRCECTSG WTGQNCSEEI NECDSDPCMN GGLCHESTIP GQFVCLCPPL
YTGQFCHQRY NLCDLLHNPC RNNSTCLALV DANQHCICRE EFEGKNCEID VKDCLFLSCQ
DYGDCEDMVN NFRCICRPGF SGSLCEIEIN ECSSEPCKNN GTCVDLTNRF FCNCEPEYHG
PFCELDVNKC KISPCLDEEN CVYRTDGYNC LCAPGYTGIN CEINLDECLS EPCLHDGVCI
DGINHYTCDC KSGFFGTHCE TNANDCLSNP CLHGRCTELI NEYPCSCDAD GTSTQCKIKI
NDCTSIPCMN EGFCQKSAHG FTCICPRGYT GAYCEKSIDN CAEPELNSVI CLNGGICVDG
PGHTFDCRCL PGFSGQFCEI NINECSSSPC LHGADCEDHI NGYVCKCQPG WSGHHCENEL
ECIPNSCVHE LCMENEPGST CLCTPGFMTC SIGLLCGDEI RRITCLTPIF QRTDPISTQT
YTIPPSETLV SSFPSIKATR IPAIMDTYPV DQGPKQTGIV KHDILPTTGL ATLRISTPLE
SYLLQELIVT RELSAKHSLL SSADVSSSRF LNFGIRDPAQ IVQDKTSVSH MPIRTSAATL
GFFFPDRRAR TPFIMSSLMS DFIFPTQSLL FENCQTVALS ATPTTSVIRS IPGADIELNR
QSLLSRGFLL IAASISATPV VSRGAQEDIE EYSADSLISR REHWRLLSPS MSPIFPAKVI
ISKQVTILNS SALHRFSTKA FNPSEYQAIT EASSNQRLTN IKSQAADSLR ELSQTCATCS
MTEIKSSREF SDQVLHSKQS HFYETFWMNS AILASWYALM GAQTITSGHS FSSATEITPS
VAFTEVPSLF PSKKSAKRTI LSSSLEESIT LSSNLDVNLC LDKTCLSIVP SQTISSDLMN
SDLTSKMTTD ELSVSENILK LLKIRQYGIT MGPTEVLNQE SLLDMEKSKG SHTLFKLHPS
DSSLDFELNL QIYPDVTLKT YSEITHANDF KNNLPPLTGS VPDFSEVTTN VAFYTVSATP
ALSIQTSSSM SVIRPDWPYF TDYMTSLKKE VKTSSEWSKW ELQPSVQYQE FPTASRHLPF
TRSLTLSSLE SILAPQRLMI SDFSCVRYYG DSYLEFQNVA LNPQNNISLE FQTFSSYGLL
LYVKQDSNLV DGFFIQLFIE NGTLKYHFYC PGEAKFKSIN TTVRVDNGQK YTLLIRQELD
PCNAELTILG RNTQICESIN HVLGKPLPKS GSVFIGGFPD LHGKIQMPVP VKNFTGCIEV
IEINNWRSFI PSKAVKNYHI NNCRSQGFML SPTASFVDAS DVTQGVDTMW TSVSPSVAAP
SVCQQDVCHN GGTCHAIFLS SGIVSFQCDC PLHFTGRFCE KDAGLFFPSF NGNSYLELPF
LKFVLEKEHN RTVTIYLTIK TNSLNGTILY SNGNNCGKQF LHLFLVEGRP SVKYGCGNSQ
NILTVSANYS INTNAFTPIT IRYTTPVGSP GVVCMIEMTA DGKPPVQKKD TEISHASQAY
FESMFLGHIP ANVQIHKKAG PVYGFRGCIL DLQVNNKEFF IIDEAQHGKN IENCHVPWCA
HHLCRNNGTC ISDNENLFCE CPRLYSGKLC QFASCENNPC GNGATCVPKS GTDIVCLCPY
GRSGPLCTDA INITQPRFSG TDAFGYTSFL AYSRISDISF HYEFHLKFQL ANNHSALQNN
LIFFTGQKGH GLNGDDFLAV GLLNGSVVYS YNLGSGIASI RSEPLNLSLG VHTVHLGKFF
QEGWLKVDDH KNKSIIAPGR LVGLNVFSQF YVGGYSEYTP DLLPNGADFK NGFQGCIFTL
QVRTEKDGHF RGLGNPEGHP NAGRSVGQCH ASPCSLMKCG NGGTCIESGT SVYCNCTTGW
KGSFCTETVS TCDPEHDPPH HCSRGATCIS LPHGYTCFCP LGTTGIYCEQ ALSISDPSFR
SNELSWMSFA SFHVRKKTHI QLQFQPLAAD GILFYAAQHL KAQSGDFLCI SLVNSSVQLR
YNLGDRTIIL ETLQKVTING STWHIIKAGR VGAEGYLDLD GINVTEKAST KMSSLDTNTD
FYIGGVSSLN LVNPMAIENE PVGFQGCIRQ VIINNQELQL TEFGAKGGSN VGDCDGTACG
YNTCRNGGEC TVNGTTFSCR CLPDWAGNTC NQSVSCLNNL CLHQSLCIPD QSFSYSCLCT
LGWVGRYCEN KTSFSTAKFM GNSYIKYIDP NYRMRNLQFT TISLNFSTTK TEGLIVWMGI
AQNEENDFLA IGLHNQTLKI AVNLGERISV PMSYNNGTFC CNKWHHVVVI QNQTLIKAYI
NNSLILSEDI DPHKNFVALN YDGICYLGGF EYGRKVNIVT QEIFKTNFVG KIKDVVFFQE
PKNIELIKLE GYNVYDGDEQ NEVT*
speed 0.82 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: 0.999999997129776 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:64694354C>TN/A show variant in all transcripts   IGV
HGNC symbol EYS
Ensembl transcript ID ENST00000370621
Genbank transcript ID N/A
UniProt peptide Q5T1H1
alteration type single base exchange
alteration region CDS
DNA changes c.6977G>A
cDNA.7504G>A
g.1722765G>A
AA changes R2326Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2326
frameshift no
known variant Reference ID: rs4710457
databasehomozygous (T/T)heterozygousallele carriers
1000G32111091430
ExAC149050866576
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.2470
0.2790.128
(flanking)1.4490.457
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased1722759wt: 0.5785 / mu: 0.6101 (marginal change - not scored)wt: AGAATTCTTCATCATCGATGAAGCACGACATGGAAAGAATA
mu: AGAATTCTTCATCATCGATGAAGCACAACATGGAAAGAATA		 atga|AGCA
Donor increased1722768wt: 0.28 / mu: 0.44wt: ACGACATGGAAAGAA
mu: ACAACATGGAAAGAA		 GACA|tgga
Donor marginally increased1722769wt: 0.9974 / mu: 0.9974 (marginal change - not scored)wt: CGACATGGAAAGAAT
mu: CAACATGGAAAGAAT		 ACAT|ggaa
distance from splice site 79
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2326NNKEFFIIDEARHGKNIENCHVPW
mutated  all conserved    2326NNKEFFIIDEAQHGKNIENCHVP
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no alignment  F41G3.12  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
21452339DOMAINLaminin G-like 2.lost
23352368DOMAINEGF-like 22.might get lost (downstream of altered splice site)
23392339DISULFIDBy similarity.might get lost (downstream of altered splice site)
23442344DISULFIDBy similarity.might get lost (downstream of altered splice site)
23502350DISULFIDBy similarity.might get lost (downstream of altered splice site)
23592359DISULFIDBy similarity.might get lost (downstream of altered splice site)
23712408DOMAINEGF-like 23.might get lost (downstream of altered splice site)
23752375DISULFIDBy similarity.might get lost (downstream of altered splice site)
23802380DISULFIDBy similarity.might get lost (downstream of altered splice site)
23862386DISULFIDBy similarity.might get lost (downstream of altered splice site)
23962396DISULFIDBy similarity.might get lost (downstream of altered splice site)
23982398DISULFIDBy similarity.might get lost (downstream of altered splice site)
24072407DISULFIDBy similarity.might get lost (downstream of altered splice site)
24192609DOMAINLaminin G-like 3.might get lost (downstream of altered splice site)
24412441CONFLICTH -> R (in Ref. 1; CAR64275).might get lost (downstream of altered splice site)
24662466CONFLICTG -> E (in Ref. 1; CAR64275).might get lost (downstream of altered splice site)
25762576DISULFIDBy similarity.might get lost (downstream of altered splice site)
26092609DISULFIDBy similarity.might get lost (downstream of altered splice site)
26102646DOMAINEGF-like 24.might get lost (downstream of altered splice site)
26142614DISULFIDBy similarity.might get lost (downstream of altered splice site)
26192619DISULFIDBy similarity.might get lost (downstream of altered splice site)
26252625DISULFIDBy similarity.might get lost (downstream of altered splice site)
26342634DISULFIDBy similarity.might get lost (downstream of altered splice site)
26362636DISULFIDBy similarity.might get lost (downstream of altered splice site)
26452645DISULFIDBy similarity.might get lost (downstream of altered splice site)
26482689DOMAINEGF-like 25.might get lost (downstream of altered splice site)
26522652DISULFIDBy similarity.might get lost (downstream of altered splice site)
26622662DISULFIDBy similarity.might get lost (downstream of altered splice site)
26682668DISULFIDBy similarity.might get lost (downstream of altered splice site)
26772677DISULFIDBy similarity.might get lost (downstream of altered splice site)
26792679DISULFIDBy similarity.might get lost (downstream of altered splice site)
26882688DISULFIDBy similarity.might get lost (downstream of altered splice site)
27172895DOMAINLaminin G-like 4.might get lost (downstream of altered splice site)
28682868DISULFIDBy similarity.might get lost (downstream of altered splice site)
28952895DISULFIDBy similarity.might get lost (downstream of altered splice site)
28962932DOMAINEGF-like 26.might get lost (downstream of altered splice site)
29002900DISULFIDBy similarity.might get lost (downstream of altered splice site)
29052905DISULFIDBy similarity.might get lost (downstream of altered splice site)
29112911DISULFIDBy similarity.might get lost (downstream of altered splice site)
29202920DISULFIDBy similarity.might get lost (downstream of altered splice site)
29222922DISULFIDBy similarity.might get lost (downstream of altered splice site)
29312931DISULFIDBy similarity.might get lost (downstream of altered splice site)
29332970DOMAINEGF-like 27.might get lost (downstream of altered splice site)
29372937DISULFIDBy similarity.might get lost (downstream of altered splice site)
29422942DISULFIDBy similarity.might get lost (downstream of altered splice site)
29482948DISULFIDBy similarity.might get lost (downstream of altered splice site)
29582958DISULFIDBy similarity.might get lost (downstream of altered splice site)
29602960DISULFIDBy similarity.might get lost (downstream of altered splice site)
29692969DISULFIDBy similarity.might get lost (downstream of altered splice site)
29753165DOMAINLaminin G-like 5.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 9498 / 9498
position (AA) of stopcodon in wt / mu AA sequence 3166 / 3166
position of stopcodon in wt / mu cDNA 10025 / 10025
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 528 / 528
chromosome 6
strand -1
last intron/exon boundary 8824
theoretical NMD boundary in CDS 8246
length of CDS 9498
coding sequence (CDS) position 6977
cDNA position
(for ins/del: last normal base / first normal base)		 7504
gDNA position
(for ins/del: last normal base / first normal base)		 1722765
chromosomal position
(for ins/del: last normal base / first normal base)		 64694354
original gDNA sequence snippet CTTCATCATCGATGAAGCACGACATGGAAAGAATATTGAGA
altered gDNA sequence snippet CTTCATCATCGATGAAGCACAACATGGAAAGAATATTGAGA
original cDNA sequence snippet CTTCATCATCGATGAAGCACGACATGGAAAGAATATTGAGA
altered cDNA sequence snippet CTTCATCATCGATGAAGCACAACATGGAAAGAATATTGAGA
wildtype AA sequence MTDKSIVILS LMVFHSSFIN GKTCRRQLVE EWHPQPSSYV VNWTLTENIC LDFYRDCWFL
GVNTKIDTSG NQAVPQICPL QIQLGDILVI SSEPSLQFPE INLMNVSETS FVGCVQNTTT
EDQLLFGCRL KGMHTVNSKW LSVGTHYFIT VMASGPSPCP LGLRLNVTVK QQFCQESLSS
EFCSGHGKCL SEAWSKTYSC HCQPPFSGKY CQELDACSFK PCKNNGSCIN KRENWDEQAY
ECVCHPPFTG KNCSEIIGQC QPHVCFHGNC SNITSNSFIC ECDEQFSGPF CEVSAKPCVS
LLFWKRGICP NSSSAYTYEC PKGSSSQNGE TDVSEFSLVP CQNGTDCIKI SNDVMCICSP
IFTDLLCKSI QTSCESFPLR NNATCKKCEK DYPCSCISGF TEKNCEKAID HCKLLSINCL
NEEWCFNIIG RFKYVCIPGC TKNPCWFLKN VYLIHQHLCY CGVTFHGICQ DKGPAQFEYV
WQLGFAGSEG EKCQGVIDAY FFLAANCTED ATYVNDPEDN NSSCWFPHEG TKEICANGCS
CLSEEDSQEY RYLCFLRWAG NMYLENTTDD QENECQHEAV CKDEINRPRC SCSLSYIGRL
CVVNVDYCLG NHSISVHGLC LALSHNCNCS GLQRYERNIC EIDTEDCKSA SCKNGTTSTH
LRGYFFRKCV PGFKGTQCEI DIDECASHPC KNGATCIDQP GNYFCQCVPP FKVVDGFSCL
CNPGYVGIRC EQDIDDCILN ACEHNSTCKD LHLSYQCVCL SDWEGNFCEQ ESNECKMNPC
KNNSTCTDLY KSYRCECTSG WTGQNCSEEI NECDSDPCMN GGLCHESTIP GQFVCLCPPL
YTGQFCHQRY NLCDLLHNPC RNNSTCLALV DANQHCICRE EFEGKNCEID VKDCLFLSCQ
DYGDCEDMVN NFRCICRPGF SGSLCEIEIN ECSSEPCKNN GTCVDLTNRF FCNCEPEYHG
PFCELDVNKC KISPCLDEEN CVYRTDGYNC LCAPGYTGIN CEINLDECLS EPCLHDGVCI
DGINHYTCDC KSGFFGTHCE TNANDCLSNP CLHGRCTELI NEYPCSCDAD GTSTQCKIKI
NDCTSIPCMN EGFCQKSAHG FTCICPRGYT GAYCEKSIDN CAEPELNSVI CLNGGICVDG
PGHTFDCRCL PGFSGQFCEI NINECSSSPC LHGADCEDHI NGYVCKCQPG WSGHHCENEL
ECIPNSCVHE LCMENEPGST CLCTPGFMTC SIGLLCGDEI RRITCLTPIF QRTDPISTQT
YTIPPSETLV SSFPSIKATR IPAIMDTYPV DQGPKQTGIV KHDILPTTGL ATLRISTPLE
SYLLQELIVT RELSAKHSLL SSADVSSSRF LNFGIRDPAQ IVQDKTSVSH MPIRTSAATL
GFFFPDRRAR TPFIMSSLMS DFIFPTQSLL FENCQTVALS ATPTTSVIRS IPGADIELNR
QSLLSRGFLL IAASISATPV VSRGAQEDIE EYSADSLISR REHWRLLSPS MSPIFPAKVI
ISKQVTILNS SALHRFSTKA FNPSEYQAIT EASSNQRLTN IKSQAADSLR ELSQTCATCS
MTEIKSSREF SDQVLHSKQS HFYETFWMNS AILASWYALM GAQTITSGHS FSSATEITPS
VAFTEVPSLF PSKKSAKRTI LSSSLEESIT LSSNLDVNLC LDKTCLSIVP SQTISSDLMN
SDLTSKMTTD ELSVSENILK LLKIRQYGIT MGPTEVLNQE SLLDMEKSKG SHTLFKLHPS
DSSLDFELNL QIYPDVTLKT YSEITHANDF KNNLPPLTGS VPDFSEVTTN VAFYTVSATP
ALSIQTSSSM SVIRPDWPYF TDYMTSLKKE VKTSSEWSKW ELQPSVQYQE FPTASRHLPF
TRSLTLSSLE SILAPQRLMI SDFSCVRYYG DSYLEFQNVA LNPQNNISLE FQTFSSYGLL
LYVKQDSNLV DGFFIQLFIE NGTLKYHFYC PGEAKFKSIN TTVRVDNGQK YTLLIRQELD
PCNAELTILG RNTQICESIN HVLGKPLPKS GSVFIGGFPD LHGKIQMPVP VKNFTGCIEV
IEINNWRSFI PSKAVKNYHI NNCRSQGFML SPTASFVDAS DVTQGVDTMW TSVSPSVAAP
SVCQQDVCHN GGTCHAIFLS SGIVSFQCDC PLHFTGRFCE KDAGLFFPSF NGNSYLELPF
LKFVLEKEHN RTVTIYLTIK TNSLNGTILY SNGNNCGKQF LHLFLVEGRP SVKYGCGNSQ
NILTVSANYS INTNAFTPIT IRYTTPVGSP GVVCMIEMTA DGKPPVQKKD TEISHASQAY
FESMFLGHIP ANVQIHKKAG PVYGFRGCIL DLQVNNKEFF IIDEARHGKN IENCHVPWCA
HHLCRNNGTC ISDNENLFCE CPRLYSGKLC QFASCENNPC GNGATCVPKS GTDIVCLCPY
GRSGPLCTDA INITQPRFSG TDAFGYTSFL AYSRISDISF HYEFHLKFQL ANNHSALQNN
LIFFTGQKGH GLNGDDFLAV GLLNGSVVYS YNLGSGIASI RSEPLNLSLG VHTVHLGKFF
QEGWLKVDDH KNKSIIAPGR LVGLNVFSQF YVGGYSEYTP DLLPNGADFK NGFQGCIFTL
QVRTEKDGHF RGLGNPEGHP NAGRSVGQCH ASPCSLMKCG NGGTCIESGT SVYCNCTTGW
KGSFCTETVS TCDPEHDPPH HCSRGATCIS LPHGYTCFCP LGTTGIYCEQ ALILIVILEK
PKPAERKVKK EALSISDPSF RSNELSWMSF ASFHVRKKTH IQLQFQPLAA DGILFYAAQH
LKAQSGDFLC ISLVNSSVQL RYNLGDRTII LETLQKVTIN GSTWHIIKAG RVGAEGYLDL
DGINVTEKAS TKMSSLDTNT DFYIGGVSSL NLVNPMAIEN EPVGFQGCIR QVIINNQELQ
LTEFGAKGGS NVGDCDGTAC GYNTCRNGGE CTVNGTTFSC RCLPDWAGNT CNQSVSCLNN
LCLHQSLCIP DQSFSYSCLC TLGWVGRYCE NKTSFSTAKF MGNSYIKYID PNYRMRNLQF
TTISLNFSTT KTEGLIVWMG IAQNEENDFL AIGLHNQTLK IAVNLGERIS VPMSYNNGTF
CCNKWHHVVV IQNQTLIKAY INNSLILSED IDPHKNFVAL NYDGICYLGG FEYGRKVNIV
TQEIFKTNFV GKIKDVVFFQ EPKNIELIKL EGYNVYDGDE QNEVT*
mutated AA sequence MTDKSIVILS LMVFHSSFIN GKTCRRQLVE EWHPQPSSYV VNWTLTENIC LDFYRDCWFL
GVNTKIDTSG NQAVPQICPL QIQLGDILVI SSEPSLQFPE INLMNVSETS FVGCVQNTTT
EDQLLFGCRL KGMHTVNSKW LSVGTHYFIT VMASGPSPCP LGLRLNVTVK QQFCQESLSS
EFCSGHGKCL SEAWSKTYSC HCQPPFSGKY CQELDACSFK PCKNNGSCIN KRENWDEQAY
ECVCHPPFTG KNCSEIIGQC QPHVCFHGNC SNITSNSFIC ECDEQFSGPF CEVSAKPCVS
LLFWKRGICP NSSSAYTYEC PKGSSSQNGE TDVSEFSLVP CQNGTDCIKI SNDVMCICSP
IFTDLLCKSI QTSCESFPLR NNATCKKCEK DYPCSCISGF TEKNCEKAID HCKLLSINCL
NEEWCFNIIG RFKYVCIPGC TKNPCWFLKN VYLIHQHLCY CGVTFHGICQ DKGPAQFEYV
WQLGFAGSEG EKCQGVIDAY FFLAANCTED ATYVNDPEDN NSSCWFPHEG TKEICANGCS
CLSEEDSQEY RYLCFLRWAG NMYLENTTDD QENECQHEAV CKDEINRPRC SCSLSYIGRL
CVVNVDYCLG NHSISVHGLC LALSHNCNCS GLQRYERNIC EIDTEDCKSA SCKNGTTSTH
LRGYFFRKCV PGFKGTQCEI DIDECASHPC KNGATCIDQP GNYFCQCVPP FKVVDGFSCL
CNPGYVGIRC EQDIDDCILN ACEHNSTCKD LHLSYQCVCL SDWEGNFCEQ ESNECKMNPC
KNNSTCTDLY KSYRCECTSG WTGQNCSEEI NECDSDPCMN GGLCHESTIP GQFVCLCPPL
YTGQFCHQRY NLCDLLHNPC RNNSTCLALV DANQHCICRE EFEGKNCEID VKDCLFLSCQ
DYGDCEDMVN NFRCICRPGF SGSLCEIEIN ECSSEPCKNN GTCVDLTNRF FCNCEPEYHG
PFCELDVNKC KISPCLDEEN CVYRTDGYNC LCAPGYTGIN CEINLDECLS EPCLHDGVCI
DGINHYTCDC KSGFFGTHCE TNANDCLSNP CLHGRCTELI NEYPCSCDAD GTSTQCKIKI
NDCTSIPCMN EGFCQKSAHG FTCICPRGYT GAYCEKSIDN CAEPELNSVI CLNGGICVDG
PGHTFDCRCL PGFSGQFCEI NINECSSSPC LHGADCEDHI NGYVCKCQPG WSGHHCENEL
ECIPNSCVHE LCMENEPGST CLCTPGFMTC SIGLLCGDEI RRITCLTPIF QRTDPISTQT
YTIPPSETLV SSFPSIKATR IPAIMDTYPV DQGPKQTGIV KHDILPTTGL ATLRISTPLE
SYLLQELIVT RELSAKHSLL SSADVSSSRF LNFGIRDPAQ IVQDKTSVSH MPIRTSAATL
GFFFPDRRAR TPFIMSSLMS DFIFPTQSLL FENCQTVALS ATPTTSVIRS IPGADIELNR
QSLLSRGFLL IAASISATPV VSRGAQEDIE EYSADSLISR REHWRLLSPS MSPIFPAKVI
ISKQVTILNS SALHRFSTKA FNPSEYQAIT EASSNQRLTN IKSQAADSLR ELSQTCATCS
MTEIKSSREF SDQVLHSKQS HFYETFWMNS AILASWYALM GAQTITSGHS FSSATEITPS
VAFTEVPSLF PSKKSAKRTI LSSSLEESIT LSSNLDVNLC LDKTCLSIVP SQTISSDLMN
SDLTSKMTTD ELSVSENILK LLKIRQYGIT MGPTEVLNQE SLLDMEKSKG SHTLFKLHPS
DSSLDFELNL QIYPDVTLKT YSEITHANDF KNNLPPLTGS VPDFSEVTTN VAFYTVSATP
ALSIQTSSSM SVIRPDWPYF TDYMTSLKKE VKTSSEWSKW ELQPSVQYQE FPTASRHLPF
TRSLTLSSLE SILAPQRLMI SDFSCVRYYG DSYLEFQNVA LNPQNNISLE FQTFSSYGLL
LYVKQDSNLV DGFFIQLFIE NGTLKYHFYC PGEAKFKSIN TTVRVDNGQK YTLLIRQELD
PCNAELTILG RNTQICESIN HVLGKPLPKS GSVFIGGFPD LHGKIQMPVP VKNFTGCIEV
IEINNWRSFI PSKAVKNYHI NNCRSQGFML SPTASFVDAS DVTQGVDTMW TSVSPSVAAP
SVCQQDVCHN GGTCHAIFLS SGIVSFQCDC PLHFTGRFCE KDAGLFFPSF NGNSYLELPF
LKFVLEKEHN RTVTIYLTIK TNSLNGTILY SNGNNCGKQF LHLFLVEGRP SVKYGCGNSQ
NILTVSANYS INTNAFTPIT IRYTTPVGSP GVVCMIEMTA DGKPPVQKKD TEISHASQAY
FESMFLGHIP ANVQIHKKAG PVYGFRGCIL DLQVNNKEFF IIDEAQHGKN IENCHVPWCA
HHLCRNNGTC ISDNENLFCE CPRLYSGKLC QFASCENNPC GNGATCVPKS GTDIVCLCPY
GRSGPLCTDA INITQPRFSG TDAFGYTSFL AYSRISDISF HYEFHLKFQL ANNHSALQNN
LIFFTGQKGH GLNGDDFLAV GLLNGSVVYS YNLGSGIASI RSEPLNLSLG VHTVHLGKFF
QEGWLKVDDH KNKSIIAPGR LVGLNVFSQF YVGGYSEYTP DLLPNGADFK NGFQGCIFTL
QVRTEKDGHF RGLGNPEGHP NAGRSVGQCH ASPCSLMKCG NGGTCIESGT SVYCNCTTGW
KGSFCTETVS TCDPEHDPPH HCSRGATCIS LPHGYTCFCP LGTTGIYCEQ ALILIVILEK
PKPAERKVKK EALSISDPSF RSNELSWMSF ASFHVRKKTH IQLQFQPLAA DGILFYAAQH
LKAQSGDFLC ISLVNSSVQL RYNLGDRTII LETLQKVTIN GSTWHIIKAG RVGAEGYLDL
DGINVTEKAS TKMSSLDTNT DFYIGGVSSL NLVNPMAIEN EPVGFQGCIR QVIINNQELQ
LTEFGAKGGS NVGDCDGTAC GYNTCRNGGE CTVNGTTFSC RCLPDWAGNT CNQSVSCLNN
LCLHQSLCIP DQSFSYSCLC TLGWVGRYCE NKTSFSTAKF MGNSYIKYID PNYRMRNLQF
TTISLNFSTT KTEGLIVWMG IAQNEENDFL AIGLHNQTLK IAVNLGERIS VPMSYNNGTF
CCNKWHHVVV IQNQTLIKAY INNSLILSED IDPHKNFVAL NYDGICYLGG FEYGRKVNIV
TQEIFKTNFV GKIKDVVFFQ EPKNIELIKL EGYNVYDGDE QNEVT*
speed 0.92 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999997129776 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:64694354C>TN/A show variant in all transcripts   IGV
HGNC symbol EYS
Ensembl transcript ID ENST00000370616
Genbank transcript ID N/A
UniProt peptide Q5T1H1
alteration type single base exchange
alteration region CDS
DNA changes c.6977G>A
cDNA.6977G>A
g.1722765G>A
AA changes R2326Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2326
frameshift no
known variant Reference ID: rs4710457
databasehomozygous (T/T)heterozygousallele carriers
1000G32111091430
ExAC149050866576
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.2470
0.2790.128
(flanking)1.4490.457
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased1722759wt: 0.5785 / mu: 0.6101 (marginal change - not scored)wt: AGAATTCTTCATCATCGATGAAGCACGACATGGAAAGAATA
mu: AGAATTCTTCATCATCGATGAAGCACAACATGGAAAGAATA		 atga|AGCA
Donor increased1722768wt: 0.28 / mu: 0.44wt: ACGACATGGAAAGAA
mu: ACAACATGGAAAGAA		 GACA|tgga
Donor marginally increased1722769wt: 0.9974 / mu: 0.9974 (marginal change - not scored)wt: CGACATGGAAAGAAT
mu: CAACATGGAAAGAAT		 ACAT|ggaa
distance from splice site 79
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2326NNKEFFIIDEARHGKNIENCHVPW
mutated  all conserved    2326NNKEFFIIDEAQHGKNIENCHVP
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no alignment  F41G3.12  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
21452339DOMAINLaminin G-like 2.lost
23352368DOMAINEGF-like 22.might get lost (downstream of altered splice site)
23392339DISULFIDBy similarity.might get lost (downstream of altered splice site)
23442344DISULFIDBy similarity.might get lost (downstream of altered splice site)
23502350DISULFIDBy similarity.might get lost (downstream of altered splice site)
23592359DISULFIDBy similarity.might get lost (downstream of altered splice site)
23712408DOMAINEGF-like 23.might get lost (downstream of altered splice site)
23752375DISULFIDBy similarity.might get lost (downstream of altered splice site)
23802380DISULFIDBy similarity.might get lost (downstream of altered splice site)
23862386DISULFIDBy similarity.might get lost (downstream of altered splice site)
23962396DISULFIDBy similarity.might get lost (downstream of altered splice site)
23982398DISULFIDBy similarity.might get lost (downstream of altered splice site)
24072407DISULFIDBy similarity.might get lost (downstream of altered splice site)
24192609DOMAINLaminin G-like 3.might get lost (downstream of altered splice site)
24412441CONFLICTH -> R (in Ref. 1; CAR64275).might get lost (downstream of altered splice site)
24662466CONFLICTG -> E (in Ref. 1; CAR64275).might get lost (downstream of altered splice site)
25762576DISULFIDBy similarity.might get lost (downstream of altered splice site)
26092609DISULFIDBy similarity.might get lost (downstream of altered splice site)
26102646DOMAINEGF-like 24.might get lost (downstream of altered splice site)
26142614DISULFIDBy similarity.might get lost (downstream of altered splice site)
26192619DISULFIDBy similarity.might get lost (downstream of altered splice site)
26252625DISULFIDBy similarity.might get lost (downstream of altered splice site)
26342634DISULFIDBy similarity.might get lost (downstream of altered splice site)
26362636DISULFIDBy similarity.might get lost (downstream of altered splice site)
26452645DISULFIDBy similarity.might get lost (downstream of altered splice site)
26482689DOMAINEGF-like 25.might get lost (downstream of altered splice site)
26522652DISULFIDBy similarity.might get lost (downstream of altered splice site)
26622662DISULFIDBy similarity.might get lost (downstream of altered splice site)
26682668DISULFIDBy similarity.might get lost (downstream of altered splice site)
26772677DISULFIDBy similarity.might get lost (downstream of altered splice site)
26792679DISULFIDBy similarity.might get lost (downstream of altered splice site)
26882688DISULFIDBy similarity.might get lost (downstream of altered splice site)
27172895DOMAINLaminin G-like 4.might get lost (downstream of altered splice site)
28682868DISULFIDBy similarity.might get lost (downstream of altered splice site)
28952895DISULFIDBy similarity.might get lost (downstream of altered splice site)
28962932DOMAINEGF-like 26.might get lost (downstream of altered splice site)
29002900DISULFIDBy similarity.might get lost (downstream of altered splice site)
29052905DISULFIDBy similarity.might get lost (downstream of altered splice site)
29112911DISULFIDBy similarity.might get lost (downstream of altered splice site)
29202920DISULFIDBy similarity.might get lost (downstream of altered splice site)
29222922DISULFIDBy similarity.might get lost (downstream of altered splice site)
29312931DISULFIDBy similarity.might get lost (downstream of altered splice site)
29332970DOMAINEGF-like 27.might get lost (downstream of altered splice site)
29372937DISULFIDBy similarity.might get lost (downstream of altered splice site)
29422942DISULFIDBy similarity.might get lost (downstream of altered splice site)
29482948DISULFIDBy similarity.might get lost (downstream of altered splice site)
29582958DISULFIDBy similarity.might get lost (downstream of altered splice site)
29602960DISULFIDBy similarity.might get lost (downstream of altered splice site)
29692969DISULFIDBy similarity.might get lost (downstream of altered splice site)
29753165DOMAINLaminin G-like 5.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 9498 / 9498
position (AA) of stopcodon in wt / mu AA sequence 3166 / 3166
position of stopcodon in wt / mu cDNA 9498 / 9498
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 1 / 1
chromosome 6
strand -1
last intron/exon boundary 8297
theoretical NMD boundary in CDS 8246
length of CDS 9498
coding sequence (CDS) position 6977
cDNA position
(for ins/del: last normal base / first normal base)		 6977
gDNA position
(for ins/del: last normal base / first normal base)		 1722765
chromosomal position
(for ins/del: last normal base / first normal base)		 64694354
original gDNA sequence snippet CTTCATCATCGATGAAGCACGACATGGAAAGAATATTGAGA
altered gDNA sequence snippet CTTCATCATCGATGAAGCACAACATGGAAAGAATATTGAGA
original cDNA sequence snippet CTTCATCATCGATGAAGCACGACATGGAAAGAATATTGAGA
altered cDNA sequence snippet CTTCATCATCGATGAAGCACAACATGGAAAGAATATTGAGA
wildtype AA sequence MTDKSIVILS LMVFHSSFIN GKTCRRQLVE EWHPQPSSYV VNWTLTENIC LDFYRDCWFL
GVNTKIDTSG NQAVPQICPL QIQLGDILVI SSEPSLQFPE INLMNVSETS FVGCVQNTTT
EDQLLFGCRL KGMHTVNSKW LSVGTHYFIT VMASGPSPCP LGLRLNVTVK QQFCQESLSS
EFCSGHGKCL SEAWSKTYSC HCQPPFSGKY CQELDACSFK PCKNNGSCIN KRENWDEQAY
ECVCHPPFTG KNCSEIIGQC QPHVCFHGNC SNITSNSFIC ECDEQFSGPF CEVSAKPCVS
LLFWKRGICP NSSSAYTYEC PKGSSSQNGE TDVSEFSLVP CQNGTDCIKI SNDVMCICSP
IFTDLLCKSI QTSCESFPLR NNATCKKCEK DYPCSCISGF TEKNCEKAID HCKLLSINCL
NEEWCFNIIG RFKYVCIPGC TKNPCWFLKN VYLIHQHLCY CGVTFHGICQ DKGPAQFEYV
WQLGFAGSEG EKCQGVIDAY FFLAANCTED ATYVNDPEDN NSSCWFPHEG TKEICANGCS
CLSEEDSQEY RYLCFLRWAG NMYLENTTDD QENECQHEAV CKDEINRPRC SCSLSYIGRL
CVVNVDYCLG NHSISVHGLC LALSHNCNCS GLQRYERNIC EIDTEDCKSA SCKNGTTSTH
LRGYFFRKCV PGFKGTQCEI DIDECASHPC KNGATCIDQP GNYFCQCVPP FKVVDGFSCL
CNPGYVGIRC EQDIDDCILN ACEHNSTCKD LHLSYQCVCL SDWEGNFCEQ ESNECKMNPC
KNNSTCTDLY KSYRCECTSG WTGQNCSEEI NECDSDPCMN GGLCHESTIP GQFVCLCPPL
YTGQFCHQRY NLCDLLHNPC RNNSTCLALV DANQHCICRE EFEGKNCEID VKDCLFLSCQ
DYGDCEDMVN NFRCICRPGF SGSLCEIEIN ECSSEPCKNN GTCVDLTNRF FCNCEPEYHG
PFCELDVNKC KISPCLDEEN CVYRTDGYNC LCAPGYTGIN CEINLDECLS EPCLHDGVCI
DGINHYTCDC KSGFFGTHCE TNANDCLSNP CLHGRCTELI NEYPCSCDAD GTSTQCKIKI
NDCTSIPCMN EGFCQKSAHG FTCICPRGYT GAYCEKSIDN CAEPELNSVI CLNGGICVDG
PGHTFDCRCL PGFSGQFCEI NINECSSSPC LHGADCEDHI NGYVCKCQPG WSGHHCENEL
ECIPNSCVHE LCMENEPGST CLCTPGFMTC SIGLLCGDEI RRITCLTPIF QRTDPISTQT
YTIPPSETLV SSFPSIKATR IPAIMDTYPV DQGPKQTGIV KHDILPTTGL ATLRISTPLE
SYLLQELIVT RELSAKHSLL SSADVSSSRF LNFGIRDPAQ IVQDKTSVSH MPIRTSAATL
GFFFPDRRAR TPFIMSSLMS DFIFPTQSLL FENCQTVALS ATPTTSVIRS IPGADIELNR
QSLLSRGFLL IAASISATPV VSRGAQEDIE EYSADSLISR REHWRLLSPS MSPIFPAKVI
ISKQVTILNS SALHRFSTKA FNPSEYQAIT EASSNQRLTN IKSQAADSLR ELSQTCATCS
MTEIKSSREF SDQVLHSKQS HFYETFWMNS AILASWYALM GAQTITSGHS FSSATEITPS
VAFTEVPSLF PSKKSAKRTI LSSSLEESIT LSSNLDVNLC LDKTCLSIVP SQTISSDLMN
SDLTSKMTTD ELSVSENILK LLKIRQYGIT MGPTEVLNQE SLLDMEKSKG SHTLFKLHPS
DSSLDFELNL QIYPDVTLKT YSEITHANDF KNNLPPLTGS VPDFSEVTTN VAFYTVSATP
ALSIQTSSSM SVIRPDWPYF TDYMTSLKKE VKTSSEWSKW ELQPSVQYQE FPTASRHLPF
TRSLTLSSLE SILAPQRLMI SDFSCVRYYG DSYLEFQNVA LNPQNNISLE FQTFSSYGLL
LYVKQDSNLV DGFFIQLFIE NGTLKYHFYC PGEAKFKSIN TTVRVDNGQK YTLLIRQELD
PCNAELTILG RNTQICESIN HVLGKPLPKS GSVFIGGFPD LHGKIQMPVP VKNFTGCIEV
IEINNWRSFI PSKAVKNYHI NNCRSQGFML SPTASFVDAS DVTQGVDTMW TSVSPSVAAP
SVCQQDVCHN GGTCHAIFLS SGIVSFQCDC PLHFTGRFCE KDAGLFFPSF NGNSYLELPF
LKFVLEKEHN RTVTIYLTIK TNSLNGTILY SNGNNCGKQF LHLFLVEGRP SVKYGCGNSQ
NILTVSANYS INTNAFTPIT IRYTTPVGSP GVVCMIEMTA DGKPPVQKKD TEISHASQAY
FESMFLGHIP ANVQIHKKAG PVYGFRGCIL DLQVNNKEFF IIDEARHGKN IENCHVPWCA
HHLCRNNGTC ISDNENLFCE CPRLYSGKLC QFASCENNPC GNGATCVPKS GTDIVCLCPY
GRSGPLCTDA INITQPRFSG TDAFGYTSFL AYSRISDISF HYEFHLKFQL ANNHSALQNN
LIFFTGQKGH GLNGDDFLAV GLLNGSVVYS YNLGSGIASI RSEPLNLSLG VHTVHLGKFF
QEGWLKVDDH KNKSIIAPGR LVGLNVFSQF YVGGYSEYTP DLLPNGADFK NGFQGCIFTL
QVRTEKDGHF RGLGNPEGHP NAGRSVGQCH ASPCSLMKCG NGGTCIESGT SVYCNCTTGW
KGSFCTETVS TCDPEHDPPH HCSRGATCIS LPHGYTCFCP LGTTGIYCEQ ALILIVILEK
PKPAERKVKK EALSISDPSF RSNELSWMSF ASFHVRKKTH IQLQFQPLAA DGILFYAAQH
LKAQSGDFLC ISLVNSSVQL RYNLGDRTII LETLQKVTIN GSTWHIIKAG RVGAEGYLDL
DGINVTEKAS TKMSSLDTNT DFYIGGVSSL NLVNPMAIEN EPVGFQGCIR QVIINNQELQ
LTEFGAKGGS NVGDCDGTAC GYNTCRNGGE CTVNGTTFSC RCLPDWAGNT CNQSVSCLNN
LCLHQSLCIP DQSFSYSCLC TLGWVGRYCE NKTSFSTAKF MGNSYIKYID PNYRMRNLQF
TTISLNFSTT KTEGLIVWMG IAQNEENDFL AIGLHNQTLK IAVNLGERIS VPMSYNNGTF
CCNKWHHVVV IQNQTLIKAY INNSLILSED IDPHKNFVAL NYDGICYLGG FEYGRKVNIV
TQEIFKTNFV GKIKDVVFFQ EPKNIELIKL EGYNVYDGDE QNEVT*
mutated AA sequence MTDKSIVILS LMVFHSSFIN GKTCRRQLVE EWHPQPSSYV VNWTLTENIC LDFYRDCWFL
GVNTKIDTSG NQAVPQICPL QIQLGDILVI SSEPSLQFPE INLMNVSETS FVGCVQNTTT
EDQLLFGCRL KGMHTVNSKW LSVGTHYFIT VMASGPSPCP LGLRLNVTVK QQFCQESLSS
EFCSGHGKCL SEAWSKTYSC HCQPPFSGKY CQELDACSFK PCKNNGSCIN KRENWDEQAY
ECVCHPPFTG KNCSEIIGQC QPHVCFHGNC SNITSNSFIC ECDEQFSGPF CEVSAKPCVS
LLFWKRGICP NSSSAYTYEC PKGSSSQNGE TDVSEFSLVP CQNGTDCIKI SNDVMCICSP
IFTDLLCKSI QTSCESFPLR NNATCKKCEK DYPCSCISGF TEKNCEKAID HCKLLSINCL
NEEWCFNIIG RFKYVCIPGC TKNPCWFLKN VYLIHQHLCY CGVTFHGICQ DKGPAQFEYV
WQLGFAGSEG EKCQGVIDAY FFLAANCTED ATYVNDPEDN NSSCWFPHEG TKEICANGCS
CLSEEDSQEY RYLCFLRWAG NMYLENTTDD QENECQHEAV CKDEINRPRC SCSLSYIGRL
CVVNVDYCLG NHSISVHGLC LALSHNCNCS GLQRYERNIC EIDTEDCKSA SCKNGTTSTH
LRGYFFRKCV PGFKGTQCEI DIDECASHPC KNGATCIDQP GNYFCQCVPP FKVVDGFSCL
CNPGYVGIRC EQDIDDCILN ACEHNSTCKD LHLSYQCVCL SDWEGNFCEQ ESNECKMNPC
KNNSTCTDLY KSYRCECTSG WTGQNCSEEI NECDSDPCMN GGLCHESTIP GQFVCLCPPL
YTGQFCHQRY NLCDLLHNPC RNNSTCLALV DANQHCICRE EFEGKNCEID VKDCLFLSCQ
DYGDCEDMVN NFRCICRPGF SGSLCEIEIN ECSSEPCKNN GTCVDLTNRF FCNCEPEYHG
PFCELDVNKC KISPCLDEEN CVYRTDGYNC LCAPGYTGIN CEINLDECLS EPCLHDGVCI
DGINHYTCDC KSGFFGTHCE TNANDCLSNP CLHGRCTELI NEYPCSCDAD GTSTQCKIKI
NDCTSIPCMN EGFCQKSAHG FTCICPRGYT GAYCEKSIDN CAEPELNSVI CLNGGICVDG
PGHTFDCRCL PGFSGQFCEI NINECSSSPC LHGADCEDHI NGYVCKCQPG WSGHHCENEL
ECIPNSCVHE LCMENEPGST CLCTPGFMTC SIGLLCGDEI RRITCLTPIF QRTDPISTQT
YTIPPSETLV SSFPSIKATR IPAIMDTYPV DQGPKQTGIV KHDILPTTGL ATLRISTPLE
SYLLQELIVT RELSAKHSLL SSADVSSSRF LNFGIRDPAQ IVQDKTSVSH MPIRTSAATL
GFFFPDRRAR TPFIMSSLMS DFIFPTQSLL FENCQTVALS ATPTTSVIRS IPGADIELNR
QSLLSRGFLL IAASISATPV VSRGAQEDIE EYSADSLISR REHWRLLSPS MSPIFPAKVI
ISKQVTILNS SALHRFSTKA FNPSEYQAIT EASSNQRLTN IKSQAADSLR ELSQTCATCS
MTEIKSSREF SDQVLHSKQS HFYETFWMNS AILASWYALM GAQTITSGHS FSSATEITPS
VAFTEVPSLF PSKKSAKRTI LSSSLEESIT LSSNLDVNLC LDKTCLSIVP SQTISSDLMN
SDLTSKMTTD ELSVSENILK LLKIRQYGIT MGPTEVLNQE SLLDMEKSKG SHTLFKLHPS
DSSLDFELNL QIYPDVTLKT YSEITHANDF KNNLPPLTGS VPDFSEVTTN VAFYTVSATP
ALSIQTSSSM SVIRPDWPYF TDYMTSLKKE VKTSSEWSKW ELQPSVQYQE FPTASRHLPF
TRSLTLSSLE SILAPQRLMI SDFSCVRYYG DSYLEFQNVA LNPQNNISLE FQTFSSYGLL
LYVKQDSNLV DGFFIQLFIE NGTLKYHFYC PGEAKFKSIN TTVRVDNGQK YTLLIRQELD
PCNAELTILG RNTQICESIN HVLGKPLPKS GSVFIGGFPD LHGKIQMPVP VKNFTGCIEV
IEINNWRSFI PSKAVKNYHI NNCRSQGFML SPTASFVDAS DVTQGVDTMW TSVSPSVAAP
SVCQQDVCHN GGTCHAIFLS SGIVSFQCDC PLHFTGRFCE KDAGLFFPSF NGNSYLELPF
LKFVLEKEHN RTVTIYLTIK TNSLNGTILY SNGNNCGKQF LHLFLVEGRP SVKYGCGNSQ
NILTVSANYS INTNAFTPIT IRYTTPVGSP GVVCMIEMTA DGKPPVQKKD TEISHASQAY
FESMFLGHIP ANVQIHKKAG PVYGFRGCIL DLQVNNKEFF IIDEAQHGKN IENCHVPWCA
HHLCRNNGTC ISDNENLFCE CPRLYSGKLC QFASCENNPC GNGATCVPKS GTDIVCLCPY
GRSGPLCTDA INITQPRFSG TDAFGYTSFL AYSRISDISF HYEFHLKFQL ANNHSALQNN
LIFFTGQKGH GLNGDDFLAV GLLNGSVVYS YNLGSGIASI RSEPLNLSLG VHTVHLGKFF
QEGWLKVDDH KNKSIIAPGR LVGLNVFSQF YVGGYSEYTP DLLPNGADFK NGFQGCIFTL
QVRTEKDGHF RGLGNPEGHP NAGRSVGQCH ASPCSLMKCG NGGTCIESGT SVYCNCTTGW
KGSFCTETVS TCDPEHDPPH HCSRGATCIS LPHGYTCFCP LGTTGIYCEQ ALILIVILEK
PKPAERKVKK EALSISDPSF RSNELSWMSF ASFHVRKKTH IQLQFQPLAA DGILFYAAQH
LKAQSGDFLC ISLVNSSVQL RYNLGDRTII LETLQKVTIN GSTWHIIKAG RVGAEGYLDL
DGINVTEKAS TKMSSLDTNT DFYIGGVSSL NLVNPMAIEN EPVGFQGCIR QVIINNQELQ
LTEFGAKGGS NVGDCDGTAC GYNTCRNGGE CTVNGTTFSC RCLPDWAGNT CNQSVSCLNN
LCLHQSLCIP DQSFSYSCLC TLGWVGRYCE NKTSFSTAKF MGNSYIKYID PNYRMRNLQF
TTISLNFSTT KTEGLIVWMG IAQNEENDFL AIGLHNQTLK IAVNLGERIS VPMSYNNGTF
CCNKWHHVVV IQNQTLIKAY INNSLILSED IDPHKNFVAL NYDGICYLGG FEYGRKVNIV
TQEIFKTNFV GKIKDVVFFQ EPKNIELIKL EGYNVYDGDE QNEVT*
speed 0.81 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
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Problems