Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999453 (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) chr9:114359624C>AN/A show variant in all transcripts   IGV
HGNC symbol PTGR1
Ensembl transcript ID ENST00000309195
Genbank transcript ID NM_012212
UniProt peptide Q14914
alteration type single base exchange
alteration region CDS
DNA changes c.79G>T
cDNA.158G>T
g.2512G>T
AA changes A27S Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 27
frameshift no
known variant Reference ID: rs1053959
databasehomozygous (A/A)heterozygousallele carriers
1000G92911362065
ExAC21461-1015511306
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1210.005
-0.0040.003
(flanking)-0.910.005
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 28
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      27YPTNSDFELKTAELPPLKNGEVLL
mutated  all conserved    27YPTNSDFELKTSELPPLKNGEVL
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000012749  27HPTKSDFELKTAELPPLKNGEVL
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000028378  27FPTDGNFELKTTELPPLNNGEVL
Ggallus  not conserved  ENSGALG00000015702  27FPKPSDFEMKQVALANLKDGELL
Trubripes  not conserved  ENSTRUG00000004223  27FPSDANFELKVEDLPEPKDGEVL
Drerio  not conserved  ENSDARG00000024877  27FPKDSDFELKVEQLSEPANGEVL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000014730  27APQPEDFKLIENELPPLKDGEVL
protein features
start (aa)end (aa)featuredetails 
2228STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 990 / 990
position (AA) of stopcodon in wt / mu AA sequence 330 / 330
position of stopcodon in wt / mu cDNA 1069 / 1069
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 80 / 80
chromosome 9
strand -1
last intron/exon boundary 959
theoretical NMD boundary in CDS 829
length of CDS 990
coding sequence (CDS) position 79
cDNA position
(for ins/del: last normal base / first normal base)		 158
gDNA position
(for ins/del: last normal base / first normal base)		 2512
chromosomal position
(for ins/del: last normal base / first normal base)		 114359624
original gDNA sequence snippet GTGACTTTGAGTTGAAGACAGCTGAGCTCCCACCCTTAAAA
altered gDNA sequence snippet GTGACTTTGAGTTGAAGACATCTGAGCTCCCACCCTTAAAA
original cDNA sequence snippet GTGACTTTGAGTTGAAGACAGCTGAGCTCCCACCCTTAAAA
altered cDNA sequence snippet GTGACTTTGAGTTGAAGACATCTGAGCTCCCACCCTTAAAA
wildtype AA sequence MVRTKTWTLK KHFVGYPTNS DFELKTAELP PLKNGEVLLE ALFLTVDPYM RVAAKRLKEG
DTMMGQQVAK VVESKNVALP KGTIVLASPG WTTHSISDGK DLEKLLTEWP DTIPLSLALG
TVGMPGLTAY FGLLEICGVK GGETVMVNAA AGAVGSVVGQ IAKLKGCKVV GAVGSDEKVA
YLQKLGFDVV FNYKTVESLE ETLKKASPDG YDCYFDNVGG EFSNTVIGQM KKFGRIAICG
AISTYNRTGP LPPGPPPEIV IYQELRMEAF VVYRWQGDAR QKALKDLLKW VLEGKIQYKE
YIIEGFENMP AAFMGMLKGD NLGKTIVKA*
mutated AA sequence MVRTKTWTLK KHFVGYPTNS DFELKTSELP PLKNGEVLLE ALFLTVDPYM RVAAKRLKEG
DTMMGQQVAK VVESKNVALP KGTIVLASPG WTTHSISDGK DLEKLLTEWP DTIPLSLALG
TVGMPGLTAY FGLLEICGVK GGETVMVNAA AGAVGSVVGQ IAKLKGCKVV GAVGSDEKVA
YLQKLGFDVV FNYKTVESLE ETLKKASPDG YDCYFDNVGG EFSNTVIGQM KKFGRIAICG
AISTYNRTGP LPPGPPPEIV IYQELRMEAF VVYRWQGDAR QKALKDLLKW VLEGKIQYKE
YIIEGFENMP AAFMGMLKGD NLGKTIVKA*
speed 0.12 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