Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999899506 (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) chr17:66364804T>CN/A show variant in all transcripts   IGV
HGNC symbol ARSG
Ensembl transcript ID ENST00000448504
Genbank transcript ID NM_001267727
UniProt peptide Q96EG1
alteration type single base exchange
alteration region CDS
DNA changes c.820T>C
cDNA.1616T>C
g.109482T>C
AA changes W274R Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 274
frameshift no
known variant Reference ID: rs1558878
databasehomozygous (C/C)heterozygousallele carriers
1000G34811041452
ExAC12437789320330
regulatory features Ap2alpha, Transcription Factor, Ap2alpha Transcription Factor Binding
Ap2gamma, Transcription Factor, Ap2gamma Transcription Factor Binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.130.309
0.5670.301
(flanking)-0.0570.294
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased109484wt: 0.9818 / mu: 0.9915 (marginal change - not scored)wt: CTCTGGGAGATGGAC
mu: CTCCGGGAGATGGAC		 CTGG|gaga
distance from splice site 82
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      274PRGRSLYGAGLWEMDSLVGQIKDK
mutated  not conserved    274PRGRSLYGAGLREMDSLVGQIKD
Ptroglodytes  not conserved  ENSPTRG00000009577  274PRGRSLYGAGLREMDSLVGQIKD
Mmulatta  not conserved  ENSMMUG00000007306  274PRDRRLYGAGLREMDGL-GQIKD
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000020604  274PQRQSLYRASLREMDSLVGQIKD
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000016680  284TNDNKVYAASLQEMDDLVGAIKR
Drerio  not conserved  ENSDARG00000052534  278----YTASLSDMDSLVGNIMQ
Dmelanogaster  no homologue    
Celegans  not conserved  D1014.1  266SSKEALRSDGIDISDELRGESED
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1578 / 1578
position (AA) of stopcodon in wt / mu AA sequence 526 / 526
position of stopcodon in wt / mu cDNA 2374 / 2374
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 797 / 797
chromosome 17
strand 1
last intron/exon boundary 2100
theoretical NMD boundary in CDS 1253
length of CDS 1578
coding sequence (CDS) position 820
cDNA position
(for ins/del: last normal base / first normal base)		 1616
gDNA position
(for ins/del: last normal base / first normal base)		 109482
chromosomal position
(for ins/del: last normal base / first normal base)		 66364804
original gDNA sequence snippet GCCTGTATGGTGCAGGGCTCTGGGAGATGGACAGTCTGGTG
altered gDNA sequence snippet GCCTGTATGGTGCAGGGCTCCGGGAGATGGACAGTCTGGTG
original cDNA sequence snippet GCCTGTATGGTGCAGGGCTCTGGGAGATGGACAGTCTGGTG
altered cDNA sequence snippet GCCTGTATGGTGCAGGGCTCCGGGAGATGGACAGTCTGGTG
wildtype AA sequence MGWLFLKVLL AGVSFSGFLY PLVDFCISGK TRGQKPNFVI ILADDMGWGD LGANWAETKD
TANLDKMASE GMRFVDFHAA ASTCSPSRAS LLTGRLGLRN GVTRNFAVTS VGGLPLNETT
LAEVLQQAGY VTGIIGKWHL GHHGSYHPNF RGFDYYFGIP YSHDMGCTDT PGYNHPPCPA
CPQGDGPSRN LQRDCYTDVA LPLYENLNIV EQPVNLSSLA QKYAEKATQF IQRASTSGRP
FLLYVALAHM HVPLPVTQLP AAPRGRSLYG AGLWEMDSLV GQIKDKVDHT VKENTFLWFT
GDNGPWAQKC ELAGSVGPFT GFWQTRQGGS PAKQTTWEGG HRVPALAYWP GRVPVNVTST
ALLSVLDIFP TVVALAQASL PQGRRFDGVD VSEVLFGRSQ PGHRVLFHPN SGAAGEFGAL
QTVRLERYKA FYITGGARAC DGSTGPELQH KFPLIFNLED DTAEAVPLER GGAEYQAVLP
EVRKVLADVL QDIANDNISS ADYTQDPSVT PCCNPYQIAC RCQAA*
mutated AA sequence MGWLFLKVLL AGVSFSGFLY PLVDFCISGK TRGQKPNFVI ILADDMGWGD LGANWAETKD
TANLDKMASE GMRFVDFHAA ASTCSPSRAS LLTGRLGLRN GVTRNFAVTS VGGLPLNETT
LAEVLQQAGY VTGIIGKWHL GHHGSYHPNF RGFDYYFGIP YSHDMGCTDT PGYNHPPCPA
CPQGDGPSRN LQRDCYTDVA LPLYENLNIV EQPVNLSSLA QKYAEKATQF IQRASTSGRP
FLLYVALAHM HVPLPVTQLP AAPRGRSLYG AGLREMDSLV GQIKDKVDHT VKENTFLWFT
GDNGPWAQKC ELAGSVGPFT GFWQTRQGGS PAKQTTWEGG HRVPALAYWP GRVPVNVTST
ALLSVLDIFP TVVALAQASL PQGRRFDGVD VSEVLFGRSQ PGHRVLFHPN SGAAGEFGAL
QTVRLERYKA FYITGGARAC DGSTGPELQH KFPLIFNLED DTAEAVPLER GGAEYQAVLP
EVRKVLADVL QDIANDNISS ADYTQDPSVT PCCNPYQIAC RCQAA*
speed 1.20 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