Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:113234507T>CN/A show variant in all transcripts   IGV
HGNC symbol SVEP1
Ensembl transcript ID ENST00000302728
Genbank transcript ID N/A
UniProt peptide Q4LDE5
alteration type single base exchange
alteration region CDS
DNA changes c.2696A>G
cDNA.2696A>G
g.107654A>G
AA changes K899R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 899
frameshift no
known variant Reference ID: rs10817025
databasehomozygous (C/C)heterozygousallele carriers
1000G133731864
ExAC41672176025927
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2050.013
0.5650.009
(flanking)0.2140.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      899VQETATSIGNAKSSRIKRSAPLSD
mutated  all conserved    899VQETATSIGNARSSRIKRSAPLS
Ptroglodytes  all conserved  ENSPTRG00000021246  899VQETATSIGNARSSRIKRSAPLS
Mmulatta  no homologue    
Fcatus  all conserved  ENSFCAG00000004796  636VQETPS--GKARSSRMKRSALLS
Mmusculus  all conserved  ENSMUSG00000028369  899VQETPTDVGKARSSRIKRTVPLS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0032797  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4650 / 4650
position (AA) of stopcodon in wt / mu AA sequence 1550 / 1550
position of stopcodon in wt / mu cDNA 4650 / 4650
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 9
strand -1
last intron/exon boundary 4464
theoretical NMD boundary in CDS 4413
length of CDS 4650
coding sequence (CDS) position 2696
cDNA position
(for ins/del: last normal base / first normal base)		 2696
gDNA position
(for ins/del: last normal base / first normal base)		 107654
chromosomal position
(for ins/del: last normal base / first normal base)		 113234507
original gDNA sequence snippet CACAAGCATCGGCAATGCCAAGTCCTCACGGATTAAAAGAA
altered gDNA sequence snippet CACAAGCATCGGCAATGCCAGGTCCTCACGGATTAAAAGAA
original cDNA sequence snippet CACAAGCATCGGCAATGCCAAGTCCTCACGGATTAAAAGAA
altered cDNA sequence snippet CACAAGCATCGGCAATGCCAGGTCCTCACGGATTAAAAGAA
wildtype AA sequence MWPRLAFCCW GLALVSGWAT FQQMSPSRNF SFRLFPETAP GAPGSIPAPP APGDEAAGSR
VERLGQAFRR RVRLLRELSE RLELVFLVDD SSSVGEVNFR SELMFVRKLL SDFPVVPTAT
RVAIVTFSSK NYVVPRVDYI STRRARQHKC ALLLQEIPAI SYRGGGTYTK GAFQQAAQIL
LHARENSTKV VFLITDGYSN GGDPRPIAAS LRDSGVEIFT FGIWQGNIRE LNDMASTPKE
EHCYLLHSFE EFEALARRAL HEDLPSGSFI QDDMVHCSYL CDEGKDCCDR MGSCKCGTHT
GHFECICEKG YYGKGLQYEC TACPSGTYKP EGSPGGISSC IPCPDENHTS PPGSTSPEDC
VCREGYRASG QTCELVHCPA LKPPENGYFI QNTCNNHFNA ACGVRCHPGF DLVGSSIILC
LPNGLWSGSE SYCRVRTCPH LRQPKHGHIS CSTREMLYKT TCLVACDEGY RLEGSDKLTC
QGNSQWDGPE PRCVERHCST FQMPKDVIIS PHNCGKQPAK FGTICYVSCR QGFILSGVKE
MLRCTTSGKW NVGVQAAVCK DVEAPQINCP KDIEAKTLEQ QDSANVTWQI PTAKDNSGEK
VSVHVHPAFT PPYLFPIGDV AIVYTATDLS GNQASCIFHI KVIDAEPPVI DWCRSPPPVQ
VSEKVHAASW DEPQFSDNSG AELVITRSHT QGDLFPQGET IVQYTATDPS GNNRTCDIHI
VIKGSPCEIP FTPVNGDFIC TPDNTGVNCT LTCLEGYDFT EGSTDKYYCA YEDGVWKPTY
TTEWPDCAKK RFANHGFKSF EMFYKAARCD DTDLMKKFSE AFETTLGKMV PSFCSDAEDI
DCRLEENLTK KYCLEYNYDY ENGFAIGPGG WGAANRLDYS YDDFLDTVQE TATSIGNAKS
SRIKRSAPLS DYKIKLIFNI TASVPLPDER NDTLEWENQQ RLLQTLETIT NKLKRTLNKD
PMYSFQLASE ILIADSNSLE TKKASPFCRP GSVLRGRMCV NCPLGTYYNL EHFTCESCRI
GSYQDEEGQL ECKLCPSGMY TEYIHSRNIS DCKAQCKQGT YSYSGLETCE SCPLGTYQPK
FGSRSCLSCP ENTSTVKRGA VNISACGVPC PEGKFSRSGL MPCHPCPRDY YQPNAGKAFC
LACPFYGTTP FAGSRSITEC SSFSSTFSAA EESVVPPASL GHIKKRHEIS SRVFHECFFN
PCHNSGTCQQ LGRGYVCLCP LGYTGLKCET DIDECSPLPC LNNGVCKDLV GEFICECPSG
YTGQRCEENI NECSSSPCLN KGICVDGVAG YRCTCVKGFV GLHCETEVNE CQSNPCLNNA
VCEDQVGGFL CKCPPGFLGT RCGKNVDECL SQPCKNGATC KDGANSFRCL CAAGFTGSHC
ELNINECQSN PCRNQATCVD ELNSYSCKCQ PGFSGKRCET EQSTGFNLDF EVSGIYGYVM
LDGMLPSLHA LTCTFWMKSS DDMNYGTPIS YAVDNGSDNT LLLTDYNGWV LYVNGREKIT
NCPSVNDGRW HHIAITWTSA NGIWKVYIDG KLSDGGAGLS VGLPIPGMF*
mutated AA sequence MWPRLAFCCW GLALVSGWAT FQQMSPSRNF SFRLFPETAP GAPGSIPAPP APGDEAAGSR
VERLGQAFRR RVRLLRELSE RLELVFLVDD SSSVGEVNFR SELMFVRKLL SDFPVVPTAT
RVAIVTFSSK NYVVPRVDYI STRRARQHKC ALLLQEIPAI SYRGGGTYTK GAFQQAAQIL
LHARENSTKV VFLITDGYSN GGDPRPIAAS LRDSGVEIFT FGIWQGNIRE LNDMASTPKE
EHCYLLHSFE EFEALARRAL HEDLPSGSFI QDDMVHCSYL CDEGKDCCDR MGSCKCGTHT
GHFECICEKG YYGKGLQYEC TACPSGTYKP EGSPGGISSC IPCPDENHTS PPGSTSPEDC
VCREGYRASG QTCELVHCPA LKPPENGYFI QNTCNNHFNA ACGVRCHPGF DLVGSSIILC
LPNGLWSGSE SYCRVRTCPH LRQPKHGHIS CSTREMLYKT TCLVACDEGY RLEGSDKLTC
QGNSQWDGPE PRCVERHCST FQMPKDVIIS PHNCGKQPAK FGTICYVSCR QGFILSGVKE
MLRCTTSGKW NVGVQAAVCK DVEAPQINCP KDIEAKTLEQ QDSANVTWQI PTAKDNSGEK
VSVHVHPAFT PPYLFPIGDV AIVYTATDLS GNQASCIFHI KVIDAEPPVI DWCRSPPPVQ
VSEKVHAASW DEPQFSDNSG AELVITRSHT QGDLFPQGET IVQYTATDPS GNNRTCDIHI
VIKGSPCEIP FTPVNGDFIC TPDNTGVNCT LTCLEGYDFT EGSTDKYYCA YEDGVWKPTY
TTEWPDCAKK RFANHGFKSF EMFYKAARCD DTDLMKKFSE AFETTLGKMV PSFCSDAEDI
DCRLEENLTK KYCLEYNYDY ENGFAIGPGG WGAANRLDYS YDDFLDTVQE TATSIGNARS
SRIKRSAPLS DYKIKLIFNI TASVPLPDER NDTLEWENQQ RLLQTLETIT NKLKRTLNKD
PMYSFQLASE ILIADSNSLE TKKASPFCRP GSVLRGRMCV NCPLGTYYNL EHFTCESCRI
GSYQDEEGQL ECKLCPSGMY TEYIHSRNIS DCKAQCKQGT YSYSGLETCE SCPLGTYQPK
FGSRSCLSCP ENTSTVKRGA VNISACGVPC PEGKFSRSGL MPCHPCPRDY YQPNAGKAFC
LACPFYGTTP FAGSRSITEC SSFSSTFSAA EESVVPPASL GHIKKRHEIS SRVFHECFFN
PCHNSGTCQQ LGRGYVCLCP LGYTGLKCET DIDECSPLPC LNNGVCKDLV GEFICECPSG
YTGQRCEENI NECSSSPCLN KGICVDGVAG YRCTCVKGFV GLHCETEVNE CQSNPCLNNA
VCEDQVGGFL CKCPPGFLGT RCGKNVDECL SQPCKNGATC KDGANSFRCL CAAGFTGSHC
ELNINECQSN PCRNQATCVD ELNSYSCKCQ PGFSGKRCET EQSTGFNLDF EVSGIYGYVM
LDGMLPSLHA LTCTFWMKSS DDMNYGTPIS YAVDNGSDNT LLLTDYNGWV LYVNGREKIT
NCPSVNDGRW HHIAITWTSA NGIWKVYIDG KLSDGGAGLS VGLPIPGMF*
speed 0.29 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