Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999989488 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:79240063A>GN/A show variant in all transcripts   IGV
HGNC symbol FRAS1
Ensembl transcript ID ENST00000264899
Genbank transcript ID N/A
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  all identical  C48E7.6  822DVWIEKAEIVLI
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 2214 / 2214
position (AA) of stopcodon in wt / mu AA sequence 738 / 738
position of stopcodon in wt / mu cDNA 2654 / 2654
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 2578
theoretical NMD boundary in CDS 2087
length of CDS 2214
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 CEGQNLDFCQ
NLEVISAVCL GISSTEN*
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 CEGQNLDFCQ
NLEVISAVCL GISSTEN*
speed 0.55 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