Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999995548391 (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) chr2:95537622A>GN/A show variant in all transcripts   IGV
HGNC symbol TEKT4
Ensembl transcript ID ENST00000427593
Genbank transcript ID N/A
UniProt peptide Q8WW24
alteration type single base exchange
alteration region CDS
DNA changes c.298A>G
cDNA.370A>G
g.445A>G
AA changes S100G Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 100
frameshift no
known variant Reference ID: rs11164112
databasehomozygous (G/G)heterozygousallele carriers
1000G46912031672
ExAC73821800325385
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.350.912
-0.3320.889
(flanking)0.1610.924
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased439wt: 0.22 / mu: 0.75wt: AGGACACGCACAGCT
mu: AGGACACGCACGGCT		 GACA|cgca
Donor marginally increased447wt: 0.9647 / mu: 0.9669 (marginal change - not scored)wt: CACAGCTGGAAGTCG
mu: CACGGCTGGAAGTCG		 CAGC|tgga
distance from splice site 201
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      100RTVGERLQDTHSWKSELQREMEAL
mutated  not conserved    100RTVGERLQDTHGWKSELQREMEA
Ptroglodytes  not conserved  ENSPTRG00000012206  100RTVGERLQDTHGWKSELQREVEA
Mmulatta  not conserved  ENSMMUG00000022534  99RRVGERLQDMHGWKSELQREVEA
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000024175  112RKVGERLEDMHCWKSELQREIDE
Ggallus  not conserved  ENSGALG00000005247  122AALGQRLQDIHFWKTELQKAIEE
Trubripes  not conserved  ENSTRUG00000006068  122RHLGARLQDIHLLKSELQRSIEQ
Drerio  not conserved  ENSDARG00000028899  117THLGARLQDIHLWRSELERLIER
Dmelanogaster  not conserved  FBgn0028902  248DKLRIRSQLIGKWKNT
Celegans  not conserved  R02E12.4  287QQLMQRVKDLKYWSGEIDRELAD
Xtropicalis  not conserved  ENSXETG00000016064  122KSLGERLLDIHFWKSELAREIRD
protein features
start (aa)end (aa)featuredetails 
102180COILEDPotential.might get lost (downstream of altered splice site)
310336COILEDPotential.might get lost (downstream of altered splice site)
363411COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 678 / 678
position (AA) of stopcodon in wt / mu AA sequence 226 / 226
position of stopcodon in wt / mu cDNA 750 / 750
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 73 / 73
chromosome 2
strand 1
last intron/exon boundary 571
theoretical NMD boundary in CDS 448
length of CDS 678
coding sequence (CDS) position 298
cDNA position
(for ins/del: last normal base / first normal base)		 370
gDNA position
(for ins/del: last normal base / first normal base)		 445
chromosomal position
(for ins/del: last normal base / first normal base)		 95537622
original gDNA sequence snippet AGCGACTGCAGGACACGCACAGCTGGAAGTCGGAGCTGCAG
altered gDNA sequence snippet AGCGACTGCAGGACACGCACGGCTGGAAGTCGGAGCTGCAG
original cDNA sequence snippet AGCGACTGCAGGACACGCACAGCTGGAAGTCGGAGCTGCAG
altered cDNA sequence snippet AGCGACTGCAGGACACGCACGGCTGGAAGTCGGAGCTGCAG
wildtype AA sequence MAQTVPPCEL PCKEYDVARN TGAYTSSGLA TASFRTSKYL LEEWFQNCYA RYHQAFADRD
QSERQRHESQ QLATETQALA QRTQQDSTRT VGERLQDTHS WKSELQREME ALAAETNLLL
AQKQRLERAL DATEVPFSIT TDNLQCRERR EHPNLVRDHV ETELLKALPP ALSQCLKNSC
SSRKLSARNK GTCQLMETLT VHGEANPGIE GRRTRALAHK EVPSG*
mutated AA sequence MAQTVPPCEL PCKEYDVARN TGAYTSSGLA TASFRTSKYL LEEWFQNCYA RYHQAFADRD
QSERQRHESQ QLATETQALA QRTQQDSTRT VGERLQDTHG WKSELQREME ALAAETNLLL
AQKQRLERAL DATEVPFSIT TDNLQCRERR EHPNLVRDHV ETELLKALPP ALSQCLKNSC
SSRKLSARNK GTCQLMETLT VHGEANPGIE GRRTRALAHK EVPSG*
speed 0.63 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