Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999473 (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) chr4:79240063A>GN/A show variant in all transcripts   IGV
HGNC symbol FRAS1
Ensembl transcript ID ENST00000325942
Genbank transcript ID NM_001166133
UniProt peptide N/A
alteration type single base exchange
alteration region CDS
DNA changes c.2060A>G
cDNA.2500A>G
g.261340A>G
AA changes D687G Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 687
frameshift no
known variant Reference ID: rs345513
databasehomozygous (G/G)heterozygousallele carriers
1000G46712411708
ExAC101661243522601
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.6760.007
0.3050.002
(flanking)-0.0180.001
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 78
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      687PEEGLQVEQLSDVGIPSGECLAQC
mutated  not conserved    687PEEGLQVEQLSGVGIPSGECLAQ
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000002564  687PEEGLQVEQLSGVGIPSGECLAQ
Fcatus  no alignment  ENSFCAG00000011279  n/a
Mmusculus  not conserved  ENSMUSG00000034687  686PEAGLLVEQHSGENVPYGKCVSR
Ggallus  all conserved  ENSGALG00000010316  690PEDVLQPHQPVE-GAVHGFCLSH
Trubripes  not conserved  ENSTRUG00000002517  664PEE---VVLPQSGQLQHG
Drerio  all conserved  ENSDARG00000054619  666MEEVLQPQ---NGHVSH
Dmelanogaster  no homologue    
Celegans  no alignment  C48E7.6  n/a
Xtropicalis  not conserved  ENSXETG00000000377  659PEQGLQVVQ-EYAGKP
protein features N/A
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5931 / 5931
position (AA) of stopcodon in wt / mu AA sequence 1977 / 1977
position of stopcodon in wt / mu cDNA 6371 / 6371
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 441 / 441
chromosome 4
strand 1
last intron/exon boundary 6106
theoretical NMD boundary in CDS 5615
length of CDS 5931
coding sequence (CDS) position 2060
cDNA position
(for ins/del: last normal base / first normal base)		 2500
gDNA position
(for ins/del: last normal base / first normal base)		 261340
chromosomal position
(for ins/del: last normal base / first normal base)		 79240063
original gDNA sequence snippet GCAAGTGGAGCAGCTGTCTGACGTGGGCATCCCCTCTGGCG
altered gDNA sequence snippet GCAAGTGGAGCAGCTGTCTGGCGTGGGCATCCCCTCTGGCG
original cDNA sequence snippet GCAAGTGGAGCAGCTGTCTGACGTGGGCATCCCCTCTGGCG
altered cDNA sequence snippet GCAAGTGGAGCAGCTGTCTGGCGTGGGCATCCCCTCTGGCG
wildtype AA sequence MGVLKVWLGL ALALAEFAVL PHHSEGACVY QDSLLADATI WKPDSCQSCR CHGDIVICKP
AVCRNPQCAF EKGEVLQIAA NQCCPECVLR TPGSCHHEKK IHEHGTEWAS SPCSVCSCNH
GEVRCTPQPC PPLSCGHQEL AFIPEGSCCP VCVGLGKPCS YEGHVFQDGE DWRLSRCAKC
LCRNGVAQCF TAQCQPLFCN QDETVVRVPG KCCPQCSARS CSAAGQVYEH GEQWSENACT
TCICDRGEVR CHKQACLPLR CGKGQSRARR HGQCCEECVS PAGSCSYDGV VRYQDEMWKG
SACEFCMCDH GQVTCQTGEC AKVECARDEE LIHLDGKCCP ECISRNGYCV YEETGEFMSS
NASEVKRIPE GEKWEDGPCK VCECRGAQVT CYEPSCPPCP VGTLALEVKG QCCPDCTSVH
CHPDCLTCSQ SPDHCDLCQD PTKLLQNGWC VHSCGLGFYQ AGSLCLACQP QCSTCTSGLE
CSSCQPPLLM RHGQCVPTCG DGFYQDRHSC AVCHESCAGC WGPTEKHCLA CRDPLHVLRD
GGCESSCGKG FYNRQGTCSA CDQSCDSCGP SSPRCLTCTE KTVLHDGKCM SECPGGYYAD
ATGRCKVCHN SCASCSGPTP SHCTACSPPK ALRQGHCLPR CGEGFYSDHG VCKACHSSCL
ACMGPAPSHC TGCKKPEEGL QVEQLSDVGI PSGECLAQCR AHFYLESTGI CEACHQSCFR
CAGKSPHNCT DCGPSHVLLD GQCLSQCPDG YFHQEGSCTE CHPTCRQCHG PLESDCISCY
PHISLTNGNC RTSCREEQFL NLVGYCADCH HLCQHCAADL HNTGSICLRC QNAHYLLLGD
HCVPDCPSGY YAERGACKKC HSSCRTCQGR GPFSCSSCDT NLVLSHTGTC STTCFPGHYL
DDNHVCQPCN THCGSCDSQA SCTSCRDPNK VLLFGECQYE SCAPQYYLDF STNTCKECDW
SCSACSGPLK TDCLQCMDGY VLQDGACVEQ CLSSFYQDSG LCKNCDSYCL QCQGPHECTR
CKGPFLLLEA QCVQECGKGY FADHAKHKCT ACPQGCLQCS HRDRCHLCDH GFFLKSGLCV
YNCVPGFSVH TSNETCSGKI HTPSLHVNGS LILPIGSIKP LDFSLLNVQD QEGRVEDLLF
HVVSTPTNGQ LVLSRNGKEV QLDKAGRFSW KDVNEKKVRF VHSKEKLRKG YLFLKISDQQ
FFSEPQLINI QAFSTQAPYV LRNEVLHISR GERATITTQM LDIRDDDNPQ DVVIEIIDPP
LHGQLLQTLQ SPATPIYQFQ LDELSRGLLH YAHDGSDSTS DVAVLQANDG HSFHNILFQV
KTVPQNDRGL QLVANSMVWV PEGGMLQITN RILQAEAPGA SAEEIIYKIT QDYPQFGEVV
LLVNMPADSP ADEGQHLPDG RTATPTSTFT QQDINEGIVW YRHSGAPAQS DSFRFEVSSA
SNAQTRLESH MFNIAILPQT PEAPKVSLEA SLHMTAREDG LTVIQPHSLS FINSEKPSGK
IVYNITLPLH PNQGIIEHRD HPHSPIRYFT QEDINQGKVM YRPPPAAPHL QELMAFSFAG
LPESVKFHFT VSDGEHTSPE MVLTIHLLPS DQQLPVFQVT APRLAVSPGG STSVGLQVVV
RDAETAPKEL FFELRRPPQH GVLLKHTAEF RRPMATGDTF TYEDVEKNAL QYIHDGSSTR
EDSMEISVTD GLTVTMLEVR VEVSLSEDRG PRLAAGSSLS ITVASKSTAI ITRSHLAYVD
DSSPDPEIWI QLNYLPSYGT LLRISGSEVE ELSEVSNFTM EDINNKKIRY SAVFETDGHL
VTDSFYFSVS DMDHNHLDNQ IFTIMITPAE NPPPVIAFAD LITVDEGGRA PLSFHHFFAT
DDDDNLQRDA IIKLSALPKY GCIENTGTGD RFGPETASDL EASFPIQDVL ENYIYYFQSV
HESIEPTHDI FSFYVSDGTS RSEIHSINIT IEVKTLEVGK VEPLTTIFHT IRELSL*
mutated AA sequence MGVLKVWLGL ALALAEFAVL PHHSEGACVY QDSLLADATI WKPDSCQSCR CHGDIVICKP
AVCRNPQCAF EKGEVLQIAA NQCCPECVLR TPGSCHHEKK IHEHGTEWAS SPCSVCSCNH
GEVRCTPQPC PPLSCGHQEL AFIPEGSCCP VCVGLGKPCS YEGHVFQDGE DWRLSRCAKC
LCRNGVAQCF TAQCQPLFCN QDETVVRVPG KCCPQCSARS CSAAGQVYEH GEQWSENACT
TCICDRGEVR CHKQACLPLR CGKGQSRARR HGQCCEECVS PAGSCSYDGV VRYQDEMWKG
SACEFCMCDH GQVTCQTGEC AKVECARDEE LIHLDGKCCP ECISRNGYCV YEETGEFMSS
NASEVKRIPE GEKWEDGPCK VCECRGAQVT CYEPSCPPCP VGTLALEVKG QCCPDCTSVH
CHPDCLTCSQ SPDHCDLCQD PTKLLQNGWC VHSCGLGFYQ AGSLCLACQP QCSTCTSGLE
CSSCQPPLLM RHGQCVPTCG DGFYQDRHSC AVCHESCAGC WGPTEKHCLA CRDPLHVLRD
GGCESSCGKG FYNRQGTCSA CDQSCDSCGP SSPRCLTCTE KTVLHDGKCM SECPGGYYAD
ATGRCKVCHN SCASCSGPTP SHCTACSPPK ALRQGHCLPR CGEGFYSDHG VCKACHSSCL
ACMGPAPSHC TGCKKPEEGL QVEQLSGVGI PSGECLAQCR AHFYLESTGI CEACHQSCFR
CAGKSPHNCT DCGPSHVLLD GQCLSQCPDG YFHQEGSCTE CHPTCRQCHG PLESDCISCY
PHISLTNGNC RTSCREEQFL NLVGYCADCH HLCQHCAADL HNTGSICLRC QNAHYLLLGD
HCVPDCPSGY YAERGACKKC HSSCRTCQGR GPFSCSSCDT NLVLSHTGTC STTCFPGHYL
DDNHVCQPCN THCGSCDSQA SCTSCRDPNK VLLFGECQYE SCAPQYYLDF STNTCKECDW
SCSACSGPLK TDCLQCMDGY VLQDGACVEQ CLSSFYQDSG LCKNCDSYCL QCQGPHECTR
CKGPFLLLEA QCVQECGKGY FADHAKHKCT ACPQGCLQCS HRDRCHLCDH GFFLKSGLCV
YNCVPGFSVH TSNETCSGKI HTPSLHVNGS LILPIGSIKP LDFSLLNVQD QEGRVEDLLF
HVVSTPTNGQ LVLSRNGKEV QLDKAGRFSW KDVNEKKVRF VHSKEKLRKG YLFLKISDQQ
FFSEPQLINI QAFSTQAPYV LRNEVLHISR GERATITTQM LDIRDDDNPQ DVVIEIIDPP
LHGQLLQTLQ SPATPIYQFQ LDELSRGLLH YAHDGSDSTS DVAVLQANDG HSFHNILFQV
KTVPQNDRGL QLVANSMVWV PEGGMLQITN RILQAEAPGA SAEEIIYKIT QDYPQFGEVV
LLVNMPADSP ADEGQHLPDG RTATPTSTFT QQDINEGIVW YRHSGAPAQS DSFRFEVSSA
SNAQTRLESH MFNIAILPQT PEAPKVSLEA SLHMTAREDG LTVIQPHSLS FINSEKPSGK
IVYNITLPLH PNQGIIEHRD HPHSPIRYFT QEDINQGKVM YRPPPAAPHL QELMAFSFAG
LPESVKFHFT VSDGEHTSPE MVLTIHLLPS DQQLPVFQVT APRLAVSPGG STSVGLQVVV
RDAETAPKEL FFELRRPPQH GVLLKHTAEF RRPMATGDTF TYEDVEKNAL QYIHDGSSTR
EDSMEISVTD GLTVTMLEVR VEVSLSEDRG PRLAAGSSLS ITVASKSTAI ITRSHLAYVD
DSSPDPEIWI QLNYLPSYGT LLRISGSEVE ELSEVSNFTM EDINNKKIRY SAVFETDGHL
VTDSFYFSVS DMDHNHLDNQ IFTIMITPAE NPPPVIAFAD LITVDEGGRA PLSFHHFFAT
DDDDNLQRDA IIKLSALPKY GCIENTGTGD RFGPETASDL EASFPIQDVL ENYIYYFQSV
HESIEPTHDI FSFYVSDGTS RSEIHSINIT IEVKTLEVGK VEPLTTIFHT IRELSL*
speed 1.20 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