Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999932 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:65988049T>CN/A show variant in all transcripts   IGV
HGNC symbol C17orf58
Ensembl transcript ID ENST00000449250
Genbank transcript ID NM_181655
UniProt peptide Q2M2W7
alteration type single base exchange
alteration region CDS
DNA changes c.274A>G
cDNA.464A>G
g.1717A>G
AA changes I92V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 92
frameshift no
known variant Reference ID: rs9891146
databasehomozygous (C/C)heterozygousallele carriers
1000G69310531746
ExAC25842-189176925
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5460.01
-0.1350.002
(flanking)-0.4730.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained17110.93mu: TTCAAGGTGCAGTTC CAAG|gtgc
distance from splice site 171
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      92NRKREGQIQGAIHTQCI*
mutated  all conserved    92NRKREGQIQGAVHTQCI
Ptroglodytes  no alignment  ENSPTRG00000009569  n/a
Mmulatta  all identical  ENSMMUG00000003211  92NRKREGQIQGAIHNQCI
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  not conserved  ENSGALG00000003590  92NRKRNRKVQGA-RTKC
Trubripes  not conserved  ENSTRUG00000002742  93NKWRHQKVSEATRSRC
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 294 / 294
position (AA) of stopcodon in wt / mu AA sequence 98 / 98
position of stopcodon in wt / mu cDNA 484 / 484
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 191 / 191
chromosome 17
strand -1
last intron/exon boundary 294
theoretical NMD boundary in CDS 53
length of CDS 294
coding sequence (CDS) position 274
cDNA position
(for ins/del: last normal base / first normal base)		 464
gDNA position
(for ins/del: last normal base / first normal base)		 1717
chromosomal position
(for ins/del: last normal base / first normal base)		 65988049
original gDNA sequence snippet AAGGGCAGATTCAAGGTGCAATTCATACCCAATGCATTTGA
altered gDNA sequence snippet AAGGGCAGATTCAAGGTGCAGTTCATACCCAATGCATTTGA
original cDNA sequence snippet AAGGGCAGATTCAAGGTGCAATTCATACCCAATGCATTTGA
altered cDNA sequence snippet AAGGGCAGATTCAAGGTGCAGTTCATACCCAATGCATTTGA
wildtype AA sequence MNRLYLTPDG FFFRVHMLAL DSSSCNKPCP EFKPGSRYIV MGHIYHKRRQ LPTALLQVLR
GRLRPGDGLL RSSSSYVKRF NRKREGQIQG AIHTQCI*
mutated AA sequence MNRLYLTPDG FFFRVHMLAL DSSSCNKPCP EFKPGSRYIV MGHIYHKRRQ LPTALLQVLR
GRLRPGDGLL RSSSSYVKRF NRKREGQIQG AVHTQCI*
speed 0.92 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