Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999998 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:2645552A>GN/A show variant in all transcripts   IGV
HGNC symbol IQCE
Ensembl transcript ID ENST00000438376
Genbank transcript ID NM_001100390
UniProt peptide Q6IPM2
alteration type single base exchange
alteration region CDS
DNA changes c.1738A>G
cDNA.1868A>G
g.46921A>G
AA changes T580A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 580
frameshift no
known variant Reference ID: rs2293407
databasehomozygous (G/G)heterozygousallele carriers
1000G43412051639
ExAC74751781725292
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.290
0.4380
(flanking)-0.050
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 43
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      580VPRVPSPIAQATGSPVQEEAIVII
mutated  not conserved    580VPRVPSPIAQAAGSPVQEEAIVI
Ptroglodytes  not conserved  ENSPTRG00000018866  596VPRVPSPIAQAAGSPV
Mmulatta  not conserved  ENSMMUG00000006458  596VPRVPSPIVQAEGSPA
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000036555  607APRVLSPISPAEENPTQEEAVI
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000089930  585LGTVPASMSQSGKSTQAVQE
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2040 / 2040
position (AA) of stopcodon in wt / mu AA sequence 680 / 680
position of stopcodon in wt / mu cDNA 2170 / 2170
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 131 / 131
chromosome 7
strand 1
last intron/exon boundary 2052
theoretical NMD boundary in CDS 1871
length of CDS 2040
coding sequence (CDS) position 1738
cDNA position
(for ins/del: last normal base / first normal base)		 1868
gDNA position
(for ins/del: last normal base / first normal base)		 46921
chromosomal position
(for ins/del: last normal base / first normal base)		 2645552
original gDNA sequence snippet CGAGCCCCATCGCCCAGGCCACGGGCAGCCCTGTGCAGGAG
altered gDNA sequence snippet CGAGCCCCATCGCCCAGGCCGCGGGCAGCCCTGTGCAGGAG
original cDNA sequence snippet CGAGCCCCATCGCCCAGGCCACGGGCAGCCCTGTGCAGGAG
altered cDNA sequence snippet CGAGCCCCATCGCCCAGGCCGCGGGCAGCCCTGTGCAGGAG
wildtype AA sequence MFLGTGEPAL DTKAKRKAFH KPPPTSPKSP YLSKPRKVAS WRSLRTAGSM PLGGRASLTP
QKLWLGTAKP GSLTQALNSP LTWEHAWTGV PGGTPDCLTD TFRVKRPHLR RSASNGHVPG
TPVYREKEDM YDEIIELKKS LHVQKSDVDL MRTKLRRLEE ENSRKDRQIE QLLDPSRGTD
FVRTLAEKRP DASWVINGLK QRILKLEQQC KEKDGTISKL QTDMKTTNLE EMRIAMETYY
EEVHRLQTLL ASSETTGKKP LGEKKTGAKR QKKMGSALLS LSRSVQELTE ENQSLKEDLD
RVLSTSPTIS KTQGYVEWSK PRLLRRIVEL EKKLSVMESS KSHAAEPVRS HPPACLASSS
ALHRQPRGDR NKDHERLRGA VRDLKEERTA LQEQLLQRDL EVKQLLQAKA DLEKELECAR
EGEEERRERE EVLREEIQTL TSKLQELQEM KKEEKEDCPE VPHKAQELPA PTPSSRHCEQ
DWPPDSSEEG LPRPRSPCSD GRRDAAARVL QAQWKVYKHK KKKAVLDEAA VVLQAAFRGH
LTRTKLLASK AHGSEPPSVP GLPDQSSPVP RVPSPIAQAT GSPVQEEAIV IIQSALRAHL
ARARHSATGK RTTTAASTRR RSASATHGDA SSPPFLAALP DPSPSGPQAL APLPGDDVNS
DDSDDIVIAP SLPTKNFPV*
mutated AA sequence MFLGTGEPAL DTKAKRKAFH KPPPTSPKSP YLSKPRKVAS WRSLRTAGSM PLGGRASLTP
QKLWLGTAKP GSLTQALNSP LTWEHAWTGV PGGTPDCLTD TFRVKRPHLR RSASNGHVPG
TPVYREKEDM YDEIIELKKS LHVQKSDVDL MRTKLRRLEE ENSRKDRQIE QLLDPSRGTD
FVRTLAEKRP DASWVINGLK QRILKLEQQC KEKDGTISKL QTDMKTTNLE EMRIAMETYY
EEVHRLQTLL ASSETTGKKP LGEKKTGAKR QKKMGSALLS LSRSVQELTE ENQSLKEDLD
RVLSTSPTIS KTQGYVEWSK PRLLRRIVEL EKKLSVMESS KSHAAEPVRS HPPACLASSS
ALHRQPRGDR NKDHERLRGA VRDLKEERTA LQEQLLQRDL EVKQLLQAKA DLEKELECAR
EGEEERRERE EVLREEIQTL TSKLQELQEM KKEEKEDCPE VPHKAQELPA PTPSSRHCEQ
DWPPDSSEEG LPRPRSPCSD GRRDAAARVL QAQWKVYKHK KKKAVLDEAA VVLQAAFRGH
LTRTKLLASK AHGSEPPSVP GLPDQSSPVP RVPSPIAQAA GSPVQEEAIV IIQSALRAHL
ARARHSATGK RTTTAASTRR RSASATHGDA SSPPFLAALP DPSPSGPQAL APLPGDDVNS
DDSDDIVIAP SLPTKNFPV*
speed 1.21 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