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 ENST00000452479
Genbank transcript ID N/A
UniProt peptide Q96EG1
alteration type single base exchange
alteration region CDS
DNA changes c.328T>C
cDNA.653T>C
g.109482T>C
AA changes W110R Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 110
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      110PRGRSLYGAGLWEMDSLVGQIKDK
mutated  not conserved    110PRGRSLYGAGLREMDSLVGQIK
Ptroglodytes  not conserved  ENSPTRG00000009577  274PRGRSLYGAGLREMDSLVGQIK
Mmulatta  not conserved  ENSMMUG00000007306  274PRDRRLYGAGLREMDGL-GQIK
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000020604  274PQRQSLYRASLREMDSLVGQIK
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000016680  284TNDNKVYAASLQEMDDL
Drerio  not conserved  ENSDARG00000052534  274------YTASLSDM
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 1086 / 1086
position (AA) of stopcodon in wt / mu AA sequence 362 / 362
position of stopcodon in wt / mu cDNA 1411 / 1411
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 326 / 326
chromosome 17
strand 1
last intron/exon boundary 1137
theoretical NMD boundary in CDS 761
length of CDS 1086
coding sequence (CDS) position 328
cDNA position
(for ins/del: last normal base / first normal base)		 653
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 MGCTDTPGYN HPPCPACPQG DGPSRNLQRD CYTDVALPLY ENLNIVEQPV NLSSLAQKYA
EKATQFIQRA STSGRPFLLY VALAHMHVPL PVTQLPAAPR GRSLYGAGLW EMDSLVGQIK
DKVDHTVKEN TFLWFTGDNG PWAQKCELAG SVGPFTGFWQ TRQGGSPAKQ TTWEGGHRVP
ALAYWPGRVP VNVTSTALLS VLDIFPTVVA LAQASLPQGR RFDGVDVSEV LFGRSQPGHR
VLFHPNSGAA GEFGALQTVR LERYKAFYIT GGARACDGST GPELQHKFPL IFNLEDDTAE
AVPLERGGAE YQAVLPEVRK VLADVLQDIA NDNISSADYT QDPSVTPCCN PYQIACRCQA
A*
mutated AA sequence MGCTDTPGYN HPPCPACPQG DGPSRNLQRD CYTDVALPLY ENLNIVEQPV NLSSLAQKYA
EKATQFIQRA STSGRPFLLY VALAHMHVPL PVTQLPAAPR GRSLYGAGLR EMDSLVGQIK
DKVDHTVKEN TFLWFTGDNG PWAQKCELAG SVGPFTGFWQ TRQGGSPAKQ TTWEGGHRVP
ALAYWPGRVP VNVTSTALLS VLDIFPTVVA LAQASLPQGR RFDGVDVSEV LFGRSQPGHR
VLFHPNSGAA GEFGALQTVR LERYKAFYIT GGARACDGST GPELQHKFPL IFNLEDDTAE
AVPLERGGAE YQAVLPEVRK VLADVLQDIA NDNISSADYT QDPSVTPCCN PYQIACRCQA
A*
speed 0.74 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