Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999594 (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) chr17:71232687T>CN/A show variant in all transcripts   IGV
HGNC symbol C17orf80
Ensembl transcript ID ENST00000577615
Genbank transcript ID N/A
UniProt peptide Q9BSJ5
alteration type single base exchange
alteration region CDS
DNA changes c.1066T>C
cDNA.1204T>C
g.4316T>C
AA changes F356L Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 356
frameshift no
known variant Reference ID: rs745143
databasehomozygous (C/C)heterozygousallele carriers
1000G69812051903
ExAC16788-80915979
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5840.001
0.0450
(flanking)0.3030
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased4323wt: 0.7501 / mu: 0.7715 (marginal change - not scored)wt: ACATTTAAGTTTGTTCATTCCGAGGGAGACGACTTACCAGT
mu: ACATTTAAGTTTGCTCATTCCGAGGGAGACGACTTACCAGT		 ttcc|GAGG
distance from splice site 448
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      356ESQGERPHLSLFIPRETTYQFHSV
mutated  not conserved    356ESQGERPHLSLLIPRE
Ptroglodytes  not conserved  ENSPTRG00000009597  356ESQGERPHLSLLIPRE
Mmulatta  all identical  ENSMMUG00000001269  357KSQGEGPHLSLFIPR
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000041623  349KA---KPHTAL----ELRNV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1552TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1722 / 1722
position (AA) of stopcodon in wt / mu AA sequence 574 / 574
position of stopcodon in wt / mu cDNA 1860 / 1860
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 139 / 139
chromosome 17
strand 1
last intron/exon boundary 1760
theoretical NMD boundary in CDS 1571
length of CDS 1722
coding sequence (CDS) position 1066
cDNA position
(for ins/del: last normal base / first normal base)		 1204
gDNA position
(for ins/del: last normal base / first normal base)		 4316
chromosomal position
(for ins/del: last normal base / first normal base)		 71232687
original gDNA sequence snippet AAAGACCACATTTAAGTTTGTTCATTCCGAGGGAGACGACT
altered gDNA sequence snippet AAAGACCACATTTAAGTTTGCTCATTCCGAGGGAGACGACT
original cDNA sequence snippet AAAGACCACATTTAAGTTTGTTCATTCCGAGGGAGACGACT
altered cDNA sequence snippet AAAGACCACATTTAAGTTTGCTCATTCCGAGGGAGACGACT
wildtype AA sequence MSDNPPRMEV CPYCKKPFKR LKSHLPYCKM IGPTIPTDQK VYQSKPATLP RAKKMKGPIK
DLIKAKGKEL ETENEERNSK LVVDKPEQTV KTFPLPAVGL ERAATTKADK DIKNPIQPSF
KMLKNTKPMT TFQEETKAQF YASEKTSPKR ELAKDLPKSG ESRCNPSEAG ASLLVGSIEP
SLSNQDRKYS STLPNDVQTT SGDLKLDKID PQRQELLVKL LDVPTGDCHI SPKNVSDGVK
RVRTLLSNER DSKGRDHLSG VPTDVTVTET PEKNTESLIL SLKMSSLGKI QVMEKQEKGL
TLGVETCGSK GNAEKSMSAT EKQERTVMSH GCENFNTRDS VTGKESQGER PHLSLFIPRE
TTYQFHSVSQ SSSQSLASLA TTFLQEKKAE AQNHHCVPDV KALMESPEGQ LSLEPKSDSQ
FQASHTGCQS PLCSAQRHTP QSPFTNHAAA AGRKTLRSCM GLEWFPELYP GYLGLGVLPG
KPQCWNAMTQ KPQLISPQGE RLSQGWIRCN TTIRKSGFGG ITMLFTGYFV LCCSWSFRRL
KKLCRPLPWK STVPPCIGVA KTTGDCRSKT CLD*
mutated AA sequence MSDNPPRMEV CPYCKKPFKR LKSHLPYCKM IGPTIPTDQK VYQSKPATLP RAKKMKGPIK
DLIKAKGKEL ETENEERNSK LVVDKPEQTV KTFPLPAVGL ERAATTKADK DIKNPIQPSF
KMLKNTKPMT TFQEETKAQF YASEKTSPKR ELAKDLPKSG ESRCNPSEAG ASLLVGSIEP
SLSNQDRKYS STLPNDVQTT SGDLKLDKID PQRQELLVKL LDVPTGDCHI SPKNVSDGVK
RVRTLLSNER DSKGRDHLSG VPTDVTVTET PEKNTESLIL SLKMSSLGKI QVMEKQEKGL
TLGVETCGSK GNAEKSMSAT EKQERTVMSH GCENFNTRDS VTGKESQGER PHLSLLIPRE
TTYQFHSVSQ SSSQSLASLA TTFLQEKKAE AQNHHCVPDV KALMESPEGQ LSLEPKSDSQ
FQASHTGCQS PLCSAQRHTP QSPFTNHAAA AGRKTLRSCM GLEWFPELYP GYLGLGVLPG
KPQCWNAMTQ KPQLISPQGE RLSQGWIRCN TTIRKSGFGG ITMLFTGYFV LCCSWSFRRL
KKLCRPLPWK STVPPCIGVA KTTGDCRSKT CLD*
speed 0.79 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