Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999991 (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) chr5:176885499T>CN/A show variant in all transcripts   IGV
HGNC symbol DBN1
Ensembl transcript ID ENST00000292385
Genbank transcript ID NM_080881
UniProt peptide Q16643
alteration type single base exchange
alteration region CDS
DNA changes c.1342A>G
cDNA.1952A>G
g.15904A>G
AA changes I448V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 448
frameshift no
known variant Reference ID: rs2544809
databasehomozygous (C/C)heterozygousallele carriers
1000G45110781529
ExAC13836509518931
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2820.006
1.0730.008
(flanking)0.4920.005
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased15897wt: 0.2300 / mu: 0.2505 (marginal change - not scored)wt: GACGCCACGGAGATC
mu: GACGCCACGGAGGTC		 CGCC|acgg
Donor gained158980.96mu: ACGCCACGGAGGTCC GCCA|cgga
distance from splice site 210
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      448PVEPATADATEIHDAADTIETDTA
mutated  all conserved    448PVEPATADATEVHDAADTIETDT
Ptroglodytes  all conserved  ENSPTRG00000017586  448PVEPATADATEVHDAADAIETDT
Mmulatta  all conserved  ENSMMUG00000022891  447PVEPATADATEVHDAADTIETDT
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000034675  498PAEPA-ASVTSVADVHAADTIET
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000001232  464PTKPVQSVAPQVRETSSSSV
Drerio  no alignment  ENSDARG00000069113  n/a
Dmelanogaster  not conserved  FBgn0036372  406PHSKSNSLQSQSPDETTSSNETDT
Celegans  all identical  K08E3.4  586PIDQYDFPPAVAEQNAMALWDYQAADDTEISFDPDDIITDI
Xtropicalis  all conserved  ENSXETG00000007241  404PQLTGNEEEAVMDL
protein features
start (aa)end (aa)featuredetails 
601601MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
622622MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1956 / 1956
position (AA) of stopcodon in wt / mu AA sequence 652 / 652
position of stopcodon in wt / mu cDNA 2566 / 2566
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 611 / 611
chromosome 5
strand -1
last intron/exon boundary 2496
theoretical NMD boundary in CDS 1835
length of CDS 1956
coding sequence (CDS) position 1342
cDNA position
(for ins/del: last normal base / first normal base)		 1952
gDNA position
(for ins/del: last normal base / first normal base)		 15904
chromosomal position
(for ins/del: last normal base / first normal base)		 176885499
original gDNA sequence snippet CCACAGCTGACGCCACGGAGATCCACGATGCAGCTGACACC
altered gDNA sequence snippet CCACAGCTGACGCCACGGAGGTCCACGATGCAGCTGACACC
original cDNA sequence snippet CCACAGCTGACGCCACGGAGATCCACGATGCAGCTGACACC
altered cDNA sequence snippet CCACAGCTGACGCCACGGAGGTCCACGATGCAGCTGACACC
wildtype AA sequence MAGHPWHGTA ALASSQAWRD GRERQALVSC RALYTYEDGS DDLKLAASGE GGLQELSGHF
ENQKVMYGFC SVKDSQAALP KYVLINWVGE DVPDARKCAC ASHVAKVAEF FQGVDVIVNA
SSVEDIDAGA IGQRLSNGLA RLSSPVLHRL RLREDENAEP VGTTYQKTDA AVEMKRINRE
QFWEQAKKEE ELRKEEERKK ALDERLRFEQ ERMEQERQEQ EERERRYRER EQQIEEHRRK
QQTLEAEEAK RRLKEQSIFG DHRDEEEETH MKKSESEVEE AAAIIAQRPD NPREFFKQQE
RVASASAGSC DVPSPFNHRP GSHLDSHRRM APTPIPTRSP SDSSTASTPV AEQIERALDE
VTSSQPPPLP PPPPPAQETQ EPSPILDSEE TRAAAPQAWA GPMEEPPQAQ APPRGPGSPA
EDLMFMESAE QAVLAAPVEP ATADATEIHD AADTIETDTA TADTTVANNV PPAATSLIDL
WPGNGEGAST LQGEPRAPTP PSGTEVTLAE VPLLDEVAPE PLLPAGEGCA TLLNFDELPE
PPATFCDPEE VEGESLAAPQ TPTLPSALEE LEQEQEPEPH LLTNGETTQK EGTQASEGYF
SQSQEEEFAQ SEELCAKAPP PVFYNKPPEI DITCWDADPV PEEEEGFEGG D*
mutated AA sequence MAGHPWHGTA ALASSQAWRD GRERQALVSC RALYTYEDGS DDLKLAASGE GGLQELSGHF
ENQKVMYGFC SVKDSQAALP KYVLINWVGE DVPDARKCAC ASHVAKVAEF FQGVDVIVNA
SSVEDIDAGA IGQRLSNGLA RLSSPVLHRL RLREDENAEP VGTTYQKTDA AVEMKRINRE
QFWEQAKKEE ELRKEEERKK ALDERLRFEQ ERMEQERQEQ EERERRYRER EQQIEEHRRK
QQTLEAEEAK RRLKEQSIFG DHRDEEEETH MKKSESEVEE AAAIIAQRPD NPREFFKQQE
RVASASAGSC DVPSPFNHRP GSHLDSHRRM APTPIPTRSP SDSSTASTPV AEQIERALDE
VTSSQPPPLP PPPPPAQETQ EPSPILDSEE TRAAAPQAWA GPMEEPPQAQ APPRGPGSPA
EDLMFMESAE QAVLAAPVEP ATADATEVHD AADTIETDTA TADTTVANNV PPAATSLIDL
WPGNGEGAST LQGEPRAPTP PSGTEVTLAE VPLLDEVAPE PLLPAGEGCA TLLNFDELPE
PPATFCDPEE VEGESLAAPQ TPTLPSALEE LEQEQEPEPH LLTNGETTQK EGTQASEGYF
SQSQEEEFAQ SEELCAKAPP PVFYNKPPEI DITCWDADPV PEEEEGFEGG D*
speed 0.96 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