Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00149485990609738 (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) chr3:150280445C>GN/A show variant in all transcripts   IGV
HGNC symbol EIF2A
Ensembl transcript ID ENST00000487799
Genbank transcript ID N/A
UniProt peptide Q9BY44
alteration type single base exchange
alteration region CDS
DNA changes c.215C>G
cDNA.333C>G
g.15981C>G
AA changes T72S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 72
frameshift no
known variant Reference ID: rs1132979
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC79401688724827
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5540.899
3.8481
(flanking)1.0441
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost15982sequence motif lost- wt: ACTA|gtaa
 mu: AGTA.gtaa
Donor marginally decreased15982wt: 0.9826 / mu: 0.9823 (marginal change - not scored)wt: TACACTAGTAAGTAT
mu: TACAGTAGTAAGTAT		 CACT|agta
Donor gained159800.30mu: CTTACAGTAGTAAGT TACA|gtag
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      72KNTVLATWQPYTTSKDGTAGIPNL
mutated  all conserved    72KNTVLATWQPYSTSKDGTAGIPN
Ptroglodytes  all identical  ENSPTRG00000015528  97KNTVLATWQPYTTSKDGTAGIPN
Mmulatta  all identical  ENSMMUG00000017696  119KNTVLATWQPYTTSKDGTAGIPN
Fcatus  all identical  ENSFCAG00000011331  120KNTVL-TWQPYTTSKDGTAGVPN
Mmusculus  all identical  ENSMUSG00000027810  97NNTVLATWQPYTTSKDGTAGTPN
Ggallus  all conserved  ENSGALG00000010401  98KNNILATWQAYSAAKDGTAGAPN
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000044479  96LNKVLATWQQYTKTQDNPQGEAN
Dmelanogaster  not conserved  FBgn0037135  109RGSYLCTWEHYAITKDRPEGSPN
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000020093  97KNTILATWQTYTTGKDGTAGTPN
protein features
start (aa)end (aa)featuredetails 
8484CONFLICTS -> P (in Ref. 2; BAB55058).might get lost (downstream of altered splice site)
125163REPEATWD 2.might get lost (downstream of altered splice site)
150150CONFLICTV -> A (in Ref. 4; AAQ13612).might get lost (downstream of altered splice site)
173173CONFLICTF -> S (in Ref. 4; AAQ13612).might get lost (downstream of altered splice site)
261261CONFLICTT -> P (in Ref. 1; AAM83402).might get lost (downstream of altered splice site)
263263CONFLICTG -> F (in Ref. 1; AAM83402).might get lost (downstream of altered splice site)
268268CONFLICTV -> L (in Ref. 1; AAM83402).might get lost (downstream of altered splice site)
292292CONFLICTY -> S (in Ref. 1; AAM83402).might get lost (downstream of altered splice site)
356401REPEATWD 3.might get lost (downstream of altered splice site)
503503MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
506506MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
512512MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
517517MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
518518MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
522522MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
531582COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1683 / 1683
position (AA) of stopcodon in wt / mu AA sequence 561 / 561
position of stopcodon in wt / mu cDNA 1801 / 1801
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 119 / 119
chromosome 3
strand 1
last intron/exon boundary 1736
theoretical NMD boundary in CDS 1567
length of CDS 1683
coding sequence (CDS) position 215
cDNA position
(for ins/del: last normal base / first normal base)		 333
gDNA position
(for ins/del: last normal base / first normal base)		 15981
chromosomal position
(for ins/del: last normal base / first normal base)		 150280445
original gDNA sequence snippet GGCAACGTGGCAGCCTTACACTAGTAAGTATTTTCTCAGTG
altered gDNA sequence snippet GGCAACGTGGCAGCCTTACAGTAGTAAGTATTTTCTCAGTG
original cDNA sequence snippet GGCAACGTGGCAGCCTTACACTACTTCTAAAGATGGCACAG
altered cDNA sequence snippet GGCAACGTGGCAGCCTTACAGTACTTCTAAAGATGGCACAG
wildtype AA sequence MAPSTPLLTV RGSEGLYMVN GPPHFTESTV FPRVNIISVT NKGLLHSFDL LKAVCLEFSP
KNTVLATWQP YTTSKDGTAG IPNLQLYDVK TGTCLKSFIQ KKMQNWCPSW SEDETLCARN
VNNEVHFFEN NNFNTIANKL HLQKINDFVL SPGPQPYKVA VYVPGSKGAP SFVRLYQYPN
FAGPHAALAN KSFFKADKVT MLWNKKATAV LVIASTDVDK TGASYYGEQT LHYIATNGES
AVVQLPKNGP IYDVVWNSSS TEFCAVYGFM PAKATIFNLK CDPVFDFGTG PRNAAYYSPH
GHILVLAGFG NLRGQMEVWD VKNYKLISKP VASDSTYFAW CPDGEHILTA TCAPRLRVNN
GYKIWHYTGS ILHKYDVPSN AELWQVSWQP FLDGIFPAKT ITYQAVPSEV PNEEPKVATA
YRPPALRNKP ITNSKLHEEE PPQNMKPQSG NDKPLSKTAL KNQRKHEAKK AAKQEARSDK
SPDLAPTPAP QSTPRNTVSQ SISGDPEIDK KIKNLKKKLK AIEQLKEQAA TGKQLEKNQL
EKIQKETALL QELEDLELGI *
mutated AA sequence MAPSTPLLTV RGSEGLYMVN GPPHFTESTV FPRVNIISVT NKGLLHSFDL LKAVCLEFSP
KNTVLATWQP YSTSKDGTAG IPNLQLYDVK TGTCLKSFIQ KKMQNWCPSW SEDETLCARN
VNNEVHFFEN NNFNTIANKL HLQKINDFVL SPGPQPYKVA VYVPGSKGAP SFVRLYQYPN
FAGPHAALAN KSFFKADKVT MLWNKKATAV LVIASTDVDK TGASYYGEQT LHYIATNGES
AVVQLPKNGP IYDVVWNSSS TEFCAVYGFM PAKATIFNLK CDPVFDFGTG PRNAAYYSPH
GHILVLAGFG NLRGQMEVWD VKNYKLISKP VASDSTYFAW CPDGEHILTA TCAPRLRVNN
GYKIWHYTGS ILHKYDVPSN AELWQVSWQP FLDGIFPAKT ITYQAVPSEV PNEEPKVATA
YRPPALRNKP ITNSKLHEEE PPQNMKPQSG NDKPLSKTAL KNQRKHEAKK AAKQEARSDK
SPDLAPTPAP QSTPRNTVSQ SISGDPEIDK KIKNLKKKLK AIEQLKEQAA TGKQLEKNQL
EKIQKETALL QELEDLELGI *
speed 0.27 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