Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.997091111312825 (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) chr19:46268902C>TN/A show variant in all transcripts   IGV
HGNC symbol SIX5
Ensembl transcript ID ENST00000317578
Genbank transcript ID NM_175875
UniProt peptide Q8N196
alteration type single base exchange
alteration region CDS
DNA changes c.2077G>A
cDNA.2116G>A
g.3240G>A
AA changes V693M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 693
frameshift no
known variant Reference ID: rs2341097
databasehomozygous (T/T)heterozygousallele carriers
1000G23210291261
ExAC65131974126254
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0350.847
0.4410.386
(flanking)-0.8990.092
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased3243wt: 0.24 / mu: 0.43wt: CACAGGCCCCCCACACCGTGCTGAGGCTGCCAGACCCCGAC
mu: CACAGGCCCCCCACACCATGCTGAGGCTGCCAGACCCCGAC		 gtgc|TGAG
Acc marginally increased3240wt: 0.2034 / mu: 0.2320 (marginal change - not scored)wt: GGACACAGGCCCCCCACACCGTGCTGAGGCTGCCAGACCCC
mu: GGACACAGGCCCCCCACACCATGCTGAGGCTGCCAGACCCC		 accg|TGCT
Donor marginally increased3241wt: 0.9816 / mu: 0.9930 (marginal change - not scored)wt: CACCGTGCTGAGGCT
mu: CACCATGCTGAGGCT		 CCGT|gctg
Donor gained32360.40mu: CCCCACACCATGCTG CCAC|acca
distance from splice site 468
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      693EKGLGTQAPHTVLRLPDPDPEGLL
mutated  all conserved    693EKGLGTQAPHTMLRLPDPDPEGL
Ptroglodytes  all identical  ENSPTRG00000033681  663HTVLRLPDPDPEGL
Mmulatta  all identical  ENSMMUG00000016455  694EKGLGTQAPHTVLRLPDPDPEGL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000040841  680--GLGTQATHTVLRLPDPDPQGL
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000011163  623DPGLLGLPGGESLLLGSPSPE
Drerio  all identical  ENSDARG00000068406  717VQLLNS----GVIKLPTASPGNI
Dmelanogaster  no alignment  FBgn0027364  n/a
Celegans  no alignment  C10G8.6  n/a
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2220 / 2220
position (AA) of stopcodon in wt / mu AA sequence 740 / 740
position of stopcodon in wt / mu cDNA 2259 / 2259
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 40 / 40
chromosome 19
strand -1
last intron/exon boundary 1649
theoretical NMD boundary in CDS 1559
length of CDS 2220
coding sequence (CDS) position 2077
cDNA position
(for ins/del: last normal base / first normal base)		 2116
gDNA position
(for ins/del: last normal base / first normal base)		 3240
chromosomal position
(for ins/del: last normal base / first normal base)		 46268902
original gDNA sequence snippet GGACACAGGCCCCCCACACCGTGCTGAGGCTGCCAGACCCC
altered gDNA sequence snippet GGACACAGGCCCCCCACACCATGCTGAGGCTGCCAGACCCC
original cDNA sequence snippet GGACACAGGCCCCCCACACCGTGCTGAGGCTGCCAGACCCC
altered cDNA sequence snippet GGACACAGGCCCCCCACACCATGCTGAGGCTGCCAGACCCC
wildtype AA sequence MATLPAEPSA GPAAGGEAVA AAAATEEEEE EARQLLQTLQ AAEGEAAAAA GAGAGAAAAG
AEGPGSPGVP GSPPEAASEP PTGLRFSPEQ VACVCEALLQ AGHAGRLSRF LGALPPAERL
RGSDPVLRAR ALVAFQRGEY AELYRLLESR PFPAAHHAFL QDLYLRARYH EAERARGRAL
GAVDKYRLRK KFPLPKTIWD GEETVYCFKE RSRAALKACY RGNRYPTPDE KRRLATLTGL
SLTQVSNWFK NRRQRDRTGA GGGAPCKSES DGNPTTEDES SRSPEDLERG AAPVSAEAAA
QGSIFLAGTG PPAPCPASSS ILVNGSFLAA SGSPAVLLNG GPVIINGLAL GEASSLGPLL
LTGGGGAPPP QPSPQGASET KTSLVLDPQT GEVRLEEAQS EAPETKGAQV AAPGPALGEE
VLGPLAQVVP GPPTAATFPL PPGPVPAVAA PQVVPLSPPP GYPTGLSPTS PLLNLPQVVP
TSQVVTLPQA VGPLQLLAAG PGSPVKVAAA AGPANVHLIN SGVGVTALQL PSATAPGNFL
LANPVSGSPI VTGVALQQGK IILTATFPTS MLVSQVLPPA PGLALPLKPE TAISVPEGGL
PVAPSPALPE AHALGTLSAQ QPPPAAATTS STSLPFSPDS PGLLPNFPAP PPEGLMLSPA
AVPVWSAGLE LSAGTEGLLE AEKGLGTQAP HTVLRLPDPD PEGLLLGATA GGEVDEGLEA
EAKVLTQLQS VPVEEPLEL*
mutated AA sequence MATLPAEPSA GPAAGGEAVA AAAATEEEEE EARQLLQTLQ AAEGEAAAAA GAGAGAAAAG
AEGPGSPGVP GSPPEAASEP PTGLRFSPEQ VACVCEALLQ AGHAGRLSRF LGALPPAERL
RGSDPVLRAR ALVAFQRGEY AELYRLLESR PFPAAHHAFL QDLYLRARYH EAERARGRAL
GAVDKYRLRK KFPLPKTIWD GEETVYCFKE RSRAALKACY RGNRYPTPDE KRRLATLTGL
SLTQVSNWFK NRRQRDRTGA GGGAPCKSES DGNPTTEDES SRSPEDLERG AAPVSAEAAA
QGSIFLAGTG PPAPCPASSS ILVNGSFLAA SGSPAVLLNG GPVIINGLAL GEASSLGPLL
LTGGGGAPPP QPSPQGASET KTSLVLDPQT GEVRLEEAQS EAPETKGAQV AAPGPALGEE
VLGPLAQVVP GPPTAATFPL PPGPVPAVAA PQVVPLSPPP GYPTGLSPTS PLLNLPQVVP
TSQVVTLPQA VGPLQLLAAG PGSPVKVAAA AGPANVHLIN SGVGVTALQL PSATAPGNFL
LANPVSGSPI VTGVALQQGK IILTATFPTS MLVSQVLPPA PGLALPLKPE TAISVPEGGL
PVAPSPALPE AHALGTLSAQ QPPPAAATTS STSLPFSPDS PGLLPNFPAP PPEGLMLSPA
AVPVWSAGLE LSAGTEGLLE AEKGLGTQAP HTMLRLPDPD PEGLLLGATA GGEVDEGLEA
EAKVLTQLQS VPVEEPLEL*
speed 1.05 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