Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.997615002699215 (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) chr19:46268902C>TN/A show variant in all transcripts   IGV
HGNC symbol SIX5
Ensembl transcript ID ENST00000560160
Genbank transcript ID N/A
UniProt peptide Q8N196
alteration type single base exchange
alteration region CDS
DNA changes c.763G>A
cDNA.1054G>A
g.3240G>A
AA changes V255M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 255
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      255EKGLGTQAPHTVLRLPDPDPEGLL
mutated  all conserved    255EKGLGTQAPHTMLRLPDPDPEGL
Ptroglodytes  all identical  ENSPTRG00000033681  663EKGLGTQAPHTVLRLPDPDPEGL
Mmulatta  all identical  ENSMMUG00000016455  694EKGLGTQAPHTVLRLPDPDPEGL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000040841  680--GLGTQATHTVLRLPDPDPQGL
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000011163  622DPGLLGLPGGESLLLGSPSPEQ-
Drerio  not conserved  ENSDARG00000068406  902MRGKG-ELPEDPALLGLPGGESL
Dmelanogaster  no alignment  FBgn0027364  n/a
Celegans  no alignment  C10G8.6  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
201260DNA_BINDHomeobox.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 906 / 906
position (AA) of stopcodon in wt / mu AA sequence 302 / 302
position of stopcodon in wt / mu cDNA 1197 / 1197
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 292 / 292
chromosome 19
strand -1
last intron/exon boundary 587
theoretical NMD boundary in CDS 245
length of CDS 906
coding sequence (CDS) position 763
cDNA position
(for ins/del: last normal base / first normal base)		 1054
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 MRPSGPAAAR LAQWTSIDCA RSSRCPRPSG TARRQSTASR SAPAQRSRPA TAATATPRRT
RSAAWPHSPA CRSRRSATGS RTGDSATGPG PEAARPARGN FLLANPVSGS PIVTGVALQQ
GKIILTATFP TSMLVSQVLP PAPGLALPLK PETAISVPEG GLPVAPSPAL PEAHALGTLS
AQQPPPAAAT TSSTSLPFSP DSPGLLPNFP APPPEGLMLS PAAVPVWSAG LELSAGTEGL
LEAEKGLGTQ APHTVLRLPD PDPEGLLLGA TAGGEVDEGL EAEAKVLTQL QSVPVEEPLE
L*
mutated AA sequence MRPSGPAAAR LAQWTSIDCA RSSRCPRPSG TARRQSTASR SAPAQRSRPA TAATATPRRT
RSAAWPHSPA CRSRRSATGS RTGDSATGPG PEAARPARGN FLLANPVSGS PIVTGVALQQ
GKIILTATFP TSMLVSQVLP PAPGLALPLK PETAISVPEG GLPVAPSPAL PEAHALGTLS
AQQPPPAAAT TSSTSLPFSP DSPGLLPNFP APPPEGLMLS PAAVPVWSAG LELSAGTEGL
LEAEKGLGTQ APHTMLRLPD PDPEGLLLGA TAGGEVDEGL EAEAKVLTQL QSVPVEEPLE
L*
speed 1.27 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