Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999331712357      (explain)
Summary
  • amino acid sequence changed
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:28745909A>GN/A show variant in all transcripts   IGV
HGNC symbol EIF3C
Ensembl transcript ID ENST00000566866
Genbank transcript ID N/A
UniProt peptide Q99613
alteration type single base exchange
alteration region CDS
DNA changes c.2251A>G
cDNA.2411A>G
g.46031A>G
AA changes T751A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 751
frameshift no
known variant Variant was neither found in ExAC nor 1000G.
Search ExAC.
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6591
3.8581
(flanking)4.6591
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained460250.76mu: GTGACTGGAAGGCCT GACT|ggaa
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      751ASKAMKMGDWKTCHSFIINEKMNG
mutated  not conserved    751ASKAMKMGDWKACHSFIINEKMN
Ptroglodytes  all identical  ENSPTRG00000007935  404ASKAMKMGDWKTCHSFIINEKMN
Mmulatta  all identical  ENSMMUG00000011798  537ASKAMKMGDWKTCHS
Fcatus  all identical  ENSFCAG00000015782  492ASKAMKMGDWKTCHSFIINEKMN
Mmusculus  all identical  ENSMUSG00000030738  749ASKAMKMGDWKTCHSFIINEKMN
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000008951  751ASKAMKMGDWRTCHSFIINEKMN
Drerio  all identical  ENSDARG00000016443  750ASKAMKMGDWRTCHSFIINEKMN
Dmelanogaster  not conserved  FBgn0034258  717AAKAMRCGNWQACANFIVNKKMN
Celegans  not conserved  T23D8.4  708ASKAMLNGDWKKCQDYIVNDKMN
Xtropicalis  all identical  ENSXETG00000002941  752ASKAMKMGDWKTCKNFIINEKMN
protein features
start (aa)end (aa)featuredetails 
712846DOMAINPCI.lost
909909MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2742 / 2742
position (AA) of stopcodon in wt / mu AA sequence 914 / 914
position of stopcodon in wt / mu cDNA 2902 / 2902
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 161 / 161
chromosome 16
strand 1
last intron/exon boundary 2820
theoretical NMD boundary in CDS 2609
length of CDS 2742
coding sequence (CDS) position 2251
cDNA position
(for ins/del: last normal base / first normal base)		 2411
gDNA position
(for ins/del: last normal base / first normal base)		 46031
chromosomal position
(for ins/del: last normal base / first normal base)		 28745909
original gDNA sequence snippet TGAAGATGGGTGACTGGAAGACCTGTCACAGTTTTATCATC
altered gDNA sequence snippet TGAAGATGGGTGACTGGAAGGCCTGTCACAGTTTTATCATC
original cDNA sequence snippet TGAAGATGGGTGACTGGAAGACCTGTCACAGTTTTATCATC
altered cDNA sequence snippet TGAAGATGGGTGACTGGAAGGCCTGTCACAGTTTTATCATC
wildtype AA sequence MSRFFTTGSD SESESSLSGE ELVTKPVGGN YGKQPLLLSE DEEDTKRVVR SAKDKRFEEL
TNLIRTIRNA MKIRDVTKCL EEFELLGKAY GKAKSIVDKE GVPRFYIRIL ADLEDYLNEL
WEDKEGKKKM NKNNAKALST LRQKIRKYNR DFESHITSYK QNPEQSADED AEKNEEDSEG
SSDEDEDEDG VSAATFLKKK SEAPSGESRK FLKKMDDEDE DSEDSEDDED WDTGSTSSDS
DSEEEEGKQT ALASRFLKKA PTTDEDKKAA EKKREDKAKK KHDRKSKRLD EEEEDNEGGE
WERVRGGVPL VKEKPKMFAK GTEITHAVVI KKLNEILQAR GKKGTDRAAQ IELLQLLVQI
AAENNLGEGV IVKIKFNIIA SLYDYNPNLA TYMKPEMWGK CLDCINELMD ILFANPNIFV
GENILEESEN LHNADQPLRV RGCILTLVER MDEEFTKIMQ NTDPHSQEYV EHLKDEAQVC
AIIERVQRYL EEKGTTEEVC RIYLLRILHT YYKFDYKAHQ RQLTPPEGSS KSEQDQAENE
GEDSAVLMER LCKYIYAKDR TDRIRTCAIL CHIYHHALHS RWYQARDLML MSHLQDNIQH
ADPPVQILYN RTMVQLGICA FRQGLTKDAH NALLDIQSSG RAKELLGQGL LLRSLQERNQ
EQEKVERRRQ VPFHLHINLE LLECVYLVSA MLLEIPYMAA HESDARRRMI SKQFHHQLRV
GERQPLLGPP ESMREHVVAA SKAMKMGDWK TCHSFIINEK MNGKVWDLFP EADKVRTMLV
RKIQEESLRT YLFTYSSVYD SISMETLSDM FELDLPTVHS IISKMIINEE LMASLDQPTQ
TVVMHRTEPT AQQNLALQLA EKLGSLVENN ERVFDHKQGT YGGYFRDQKD GYRKNEGYMR
RGGYRQQQSQ TAY*
mutated AA sequence MSRFFTTGSD SESESSLSGE ELVTKPVGGN YGKQPLLLSE DEEDTKRVVR SAKDKRFEEL
TNLIRTIRNA MKIRDVTKCL EEFELLGKAY GKAKSIVDKE GVPRFYIRIL ADLEDYLNEL
WEDKEGKKKM NKNNAKALST LRQKIRKYNR DFESHITSYK QNPEQSADED AEKNEEDSEG
SSDEDEDEDG VSAATFLKKK SEAPSGESRK FLKKMDDEDE DSEDSEDDED WDTGSTSSDS
DSEEEEGKQT ALASRFLKKA PTTDEDKKAA EKKREDKAKK KHDRKSKRLD EEEEDNEGGE
WERVRGGVPL VKEKPKMFAK GTEITHAVVI KKLNEILQAR GKKGTDRAAQ IELLQLLVQI
AAENNLGEGV IVKIKFNIIA SLYDYNPNLA TYMKPEMWGK CLDCINELMD ILFANPNIFV
GENILEESEN LHNADQPLRV RGCILTLVER MDEEFTKIMQ NTDPHSQEYV EHLKDEAQVC
AIIERVQRYL EEKGTTEEVC RIYLLRILHT YYKFDYKAHQ RQLTPPEGSS KSEQDQAENE
GEDSAVLMER LCKYIYAKDR TDRIRTCAIL CHIYHHALHS RWYQARDLML MSHLQDNIQH
ADPPVQILYN RTMVQLGICA FRQGLTKDAH NALLDIQSSG RAKELLGQGL LLRSLQERNQ
EQEKVERRRQ VPFHLHINLE LLECVYLVSA MLLEIPYMAA HESDARRRMI SKQFHHQLRV
GERQPLLGPP ESMREHVVAA SKAMKMGDWK ACHSFIINEK MNGKVWDLFP EADKVRTMLV
RKIQEESLRT YLFTYSSVYD SISMETLSDM FELDLPTVHS IISKMIINEE LMASLDQPTQ
TVVMHRTEPT AQQNLALQLA EKLGSLVENN ERVFDHKQGT YGGYFRDQKD GYRKNEGYMR
RGGYRQQQSQ TAY*
speed 1.09 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