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 ENST00000564243
Genbank transcript ID N/A
UniProt peptide Q99613
alteration type single base exchange
alteration region CDS
DNA changes c.2221A>G
cDNA.2296A>G
g.46031A>G
AA changes T741A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 741
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      741ASKAMKMGDWKTCHSFIINEKMNG
mutated  not conserved    741ASKAMKMGDWKACHSFIINEKMN
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 2712 / 2712
position (AA) of stopcodon in wt / mu AA sequence 904 / 904
position of stopcodon in wt / mu cDNA 2787 / 2787
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 76 / 76
chromosome 16
strand 1
last intron/exon boundary 2705
theoretical NMD boundary in CDS 2579
length of CDS 2712
coding sequence (CDS) position 2221
cDNA position
(for ins/del: last normal base / first normal base)		 2296
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 ADLEDYLNEM
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 ADLEDYLNEM
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 0.52 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