Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998222 (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) chr1:26786627G>AN/A show variant in all transcripts   IGV
HGNC symbol DHDDS
Ensembl transcript ID ENST00000526219
Genbank transcript ID N/A
UniProt peptide Q86SQ9
alteration type single base exchange
alteration region CDS
DNA changes c.640G>A
cDNA.732G>A
g.27855G>A
AA changes V214M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 214
frameshift no
known variant Reference ID: rs3816539
databasehomozygous (A/A)heterozygousallele carriers
1000G57411321706
ExAC72851819725482
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3350.031
0.0280.032
(flanking)0.5980.1
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased27847wt: 0.45 / mu: 0.60wt: GATGAACCATAGCGT
mu: GATGAACCATAGCAT		 TGAA|ccat
distance from splice site 9
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      214EAILQFQMNHSVLQKARDMYAEER
mutated  all conserved    214EAILQFQMNHSMLQKARDMYAEE
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000022426  253EAILQFQMNHSVLQQKARDMYAEE
Fcatus  not conserved  ENSFCAG00000012811  253XXXXXXXXXXXXXQKARDMYAEE
Mmusculus  not conserved  ENSMUSG00000012117  253EAILQFQRNHGALQQKARDMYAEE
Ggallus  not conserved  ENSGALG00000000385  253EAILRFQMNYNALQKARDSYMEE
Trubripes  not conserved  ENSTRUG00000007224  253EAILRYQLNYKSIQKARDLHREQ
Drerio  not conserved  ENSDARG00000039851  253EAILQFQLSHRSIQKARELHREE
Dmelanogaster  not conserved  FBgn0029980  253ASILAYQRDRWQLDDFRRAERMQSCQLAKATDFYSE
Celegans  not conserved  T01G1.4  266KAILNYQYYRTTVTK
Xtropicalis  not conserved  ENSXETG00000012322  255EAILRYQYNYSNIQKARELHHRQ
protein features
start (aa)end (aa)featuredetails 
277277CONFLICTV -> E (in Ref. 6; AAH34152).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 885 / 885
position (AA) of stopcodon in wt / mu AA sequence 295 / 295
position of stopcodon in wt / mu cDNA 977 / 977
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 93 / 93
chromosome 1
strand 1
last intron/exon boundary 741
theoretical NMD boundary in CDS 598
length of CDS 885
coding sequence (CDS) position 640
cDNA position
(for ins/del: last normal base / first normal base)		 732
gDNA position
(for ins/del: last normal base / first normal base)		 27855
chromosomal position
(for ins/del: last normal base / first normal base)		 26786627
original gDNA sequence snippet AGTTCCAGATGAACCATAGCGTGCTTCAGGTAAGAAAGAGT
altered gDNA sequence snippet AGTTCCAGATGAACCATAGCATGCTTCAGGTAAGAAAGAGT
original cDNA sequence snippet AGTTCCAGATGAACCATAGCGTGCTTCAGAAGGCCCGAGAC
altered cDNA sequence snippet AGTTCCAGATGAACCATAGCATGCTTCAGAAGGCCCGAGAC
wildtype AA sequence MSWIKEGELS LWERFCANII KAGPMPKHIA FIMDGNRRYA KKCQVERQEG HSQGFNKLAE
TLRWCLNLGI LEVTVYAFSI ENFKRSKSEV DGLMDLARQK FSRLMEEKCF LNVCFAYTSR
HEISNAVREM AWGVEQGLLD PSDISESLLD KCLYTNRSPH PDILIRTSGE VRLSDFLLWQ
TSHSCLVFQP VLWPEYTFWN LFEAILQFQM NHSVLQKARD MYAEERKRQQ LERDQATVTE
QLLREGLQAS GDAQLRRTRL HKLSARREER VQGFLQALEL KRADWLARLG TASA*
mutated AA sequence MSWIKEGELS LWERFCANII KAGPMPKHIA FIMDGNRRYA KKCQVERQEG HSQGFNKLAE
TLRWCLNLGI LEVTVYAFSI ENFKRSKSEV DGLMDLARQK FSRLMEEKCF LNVCFAYTSR
HEISNAVREM AWGVEQGLLD PSDISESLLD KCLYTNRSPH PDILIRTSGE VRLSDFLLWQ
TSHSCLVFQP VLWPEYTFWN LFEAILQFQM NHSMLQKARD MYAEERKRQQ LERDQATVTE
QLLREGLQAS GDAQLRRTRL HKLSARREER VQGFLQALEL KRADWLARLG TASA*
speed 0.98 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