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
 hyperlink
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 ENST00000402050
Genbank transcript ID NM_152558
UniProt peptide Q6IPM2
alteration type single base exchange
alteration region CDS
DNA changes c.1786A>G
cDNA.1970A>G
g.46921A>G
AA changes T596A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 596
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      596VPRVPSPIAQATGSPVQEEAIVII
mutated  not conserved    596VPRVPSPIAQAAGSPV
Ptroglodytes  not conserved  ENSPTRG00000018866  596VPRVPSPIAQAAGSPV
Mmulatta  not conserved  ENSMMUG00000006458  596VPRVPSPIVQAEGSPA
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000036555  610RVLSPISPAEENPTQEEAVIV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000089930  571LGTVPASMSQSGKSTQAVQEEEVTL
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 2088 / 2088
position (AA) of stopcodon in wt / mu AA sequence 696 / 696
position of stopcodon in wt / mu cDNA 2272 / 2272
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 185 / 185
chromosome 7
strand 1
last intron/exon boundary 2154
theoretical NMD boundary in CDS 1919
length of CDS 2088
coding sequence (CDS) position 1786
cDNA position
(for ins/del: last normal base / first normal base)		 1970
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 DTGDDSLSAV TFDSDVETKA KRKAFHKPPP TSPKSPYLSK PRKVASWRSL
RTAGSMPLGG RASLTPQKLW LGTAKPGSLT QALNSPLTWE HAWTGVPGGT PDCLTDTFRV
KRPHLRRSAS NGHVPGTPVY REKEDMYDEI IELKKSLHVQ KSDVDLMRTK LRRLEEENSR
KDRQIEQLLD PSRGTDFVRT LAEKRPDASW VINGLKQRIL KLEQQCKEKD GTISKLQTDM
KTTNLEEMRI AMETYYEEVH RLQTLLASSE TTGKKPLGEK KTGAKRQKKM GSALLSLSRS
VQELTEENQS LKEDLDRVLS TSPTISKTQG YVEWSKPRLL RRIVELEKKL SVMESSKSHA
AEPVRSHPPA CLASSSALHR QPRGDRNKDH ERLRGAVRDL KEERTALQEQ LLQRDLEVKQ
LLQAKADLEK ELECAREGEE ERREREEVLR EEIQTLTSKL QELQEMKKEE KEDCPEVPHK
AQELPAPTPS SRHCEQDWPP DSSEEGLPRP RSPCSDGRRD AAARVLQAQW KVYKHKKKKA
VLDEAAVVLQ AAFRGHLTRT KLLASKAHGS EPPSVPGLPD QSSPVPRVPS PIAQATGSPV
QEEAIVIIQS ALRAHLARAR HSATGKRTTT AASTRRRSAS ATHGDASSPP FLAALPDPSP
SGPQALAPLP GDDVNSDDSD DIVIAPSLPT KNFPV*
mutated AA sequence MFLGTGEPAL DTGDDSLSAV TFDSDVETKA KRKAFHKPPP TSPKSPYLSK PRKVASWRSL
RTAGSMPLGG RASLTPQKLW LGTAKPGSLT QALNSPLTWE HAWTGVPGGT PDCLTDTFRV
KRPHLRRSAS NGHVPGTPVY REKEDMYDEI IELKKSLHVQ KSDVDLMRTK LRRLEEENSR
KDRQIEQLLD PSRGTDFVRT LAEKRPDASW VINGLKQRIL KLEQQCKEKD GTISKLQTDM
KTTNLEEMRI AMETYYEEVH RLQTLLASSE TTGKKPLGEK KTGAKRQKKM GSALLSLSRS
VQELTEENQS LKEDLDRVLS TSPTISKTQG YVEWSKPRLL RRIVELEKKL SVMESSKSHA
AEPVRSHPPA CLASSSALHR QPRGDRNKDH ERLRGAVRDL KEERTALQEQ LLQRDLEVKQ
LLQAKADLEK ELECAREGEE ERREREEVLR EEIQTLTSKL QELQEMKKEE KEDCPEVPHK
AQELPAPTPS SRHCEQDWPP DSSEEGLPRP RSPCSDGRRD AAARVLQAQW KVYKHKKKKA
VLDEAAVVLQ AAFRGHLTRT KLLASKAHGS EPPSVPGLPD QSSPVPRVPS PIAQAAGSPV
QEEAIVIIQS ALRAHLARAR HSATGKRTTT AASTRRRSAS ATHGDASSPP FLAALPDPSP
SGPQALAPLP GDDVNSDDSD DIVIAPSLPT KNFPV*
speed 1.07 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