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
  • protein features (might be) affected
 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 ENST00000404984
Genbank transcript ID N/A
UniProt peptide Q6IPM2
alteration type single base exchange
alteration region CDS
DNA changes c.1633A>G
cDNA.1817A>G
g.46921A>G
AA changes T545A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 545
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      545VPRVPSPIAQATGSPVQEEAIVII
mutated  not conserved    545IAQAAGSPVQEEAIVI
Ptroglodytes  not conserved  ENSPTRG00000018866  596VPRVPSPIAQAAGSPVQEEAIVI
Mmulatta  not conserved  ENSMMUG00000006458  596VPRVPSPIVQAEGSPAQEEAIVI
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000036555  610EENPTQEEAVIV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000089930  573LGTVPASMSQSGKSTQAVQEEEVTL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
542571DOMAINIQ 1.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1935 / 1935
position (AA) of stopcodon in wt / mu AA sequence 645 / 645
position of stopcodon in wt / mu cDNA 2119 / 2119
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 2001
theoretical NMD boundary in CDS 1766
length of CDS 1935
coding sequence (CDS) position 1633
cDNA position
(for ins/del: last normal base / first normal base)		 1817
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 DTSHLISLSR ASLTPQKLWL GTAKPGSLTQ ALNSPLTWEH AWTGVPGGTP
DCLTDTFRVK RPHLRRSASN GHVPGTPVYR EKEDMYDEII ELKKSLHVQK SDVDLMRTKL
RRLEEENSRK DRQIEQLLDP SRGTDFVRTL AEKRPDASWV INGLKQRILK LEQQCKEKDG
TISKLQTDMK TTNLEEMRIA METYYEEVHR LQTLLASSET TGKKPLGEKK TGAKRQKKMG
SALLSLSRSV QELTEENQSL KEDLDRVLST SPTISKTQGY VEWSKPRLLR RIVELEKKLS
VMESSKSHAA EPVRSHPPAC LASSSALHRQ PRGDRNKDHE RLRGAVRDLK EERTALQEQL
LQRDLEVKQL LQAKADLEKE LECAREGEEE RREREEVLRE EIQTLTSKLQ ELQEMKKEEK
EDCPEVPHKA QELPAPTPSS RHCEQDWPPD SSEEGLPRPR SPCSDGRRDA AARVLQAQWK
VYKHKKKKAV LDEAAVVLQA AFRGHLTRTK LLASKAHGSE PPSVPGLPDQ SSPVPRVPSP
IAQATGSPVQ EEAIVIIQSA LRAHLARARH SATGKRTTTA ASTRRRSASA THGDASSPPF
LAALPDPSPS GPQALAPLPG DDVNSDDSDD IVIAPSLPTK NFPV*
mutated AA sequence MFLGTGEPAL DTSHLISLSR ASLTPQKLWL GTAKPGSLTQ ALNSPLTWEH AWTGVPGGTP
DCLTDTFRVK RPHLRRSASN GHVPGTPVYR EKEDMYDEII ELKKSLHVQK SDVDLMRTKL
RRLEEENSRK DRQIEQLLDP SRGTDFVRTL AEKRPDASWV INGLKQRILK LEQQCKEKDG
TISKLQTDMK TTNLEEMRIA METYYEEVHR LQTLLASSET TGKKPLGEKK TGAKRQKKMG
SALLSLSRSV QELTEENQSL KEDLDRVLST SPTISKTQGY VEWSKPRLLR RIVELEKKLS
VMESSKSHAA EPVRSHPPAC LASSSALHRQ PRGDRNKDHE RLRGAVRDLK EERTALQEQL
LQRDLEVKQL LQAKADLEKE LECAREGEEE RREREEVLRE EIQTLTSKLQ ELQEMKKEEK
EDCPEVPHKA QELPAPTPSS RHCEQDWPPD SSEEGLPRPR SPCSDGRRDA AARVLQAQWK
VYKHKKKKAV LDEAAVVLQA AFRGHLTRTK LLASKAHGSE PPSVPGLPDQ SSPVPRVPSP
IAQAAGSPVQ EEAIVIIQSA LRAHLARARH SATGKRTTTA ASTRRRSASA THGDASSPPF
LAALPDPSPS GPQALAPLPG DDVNSDDSDD IVIAPSLPTK NFPV*
speed 1.13 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