Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 6.06177572093912e-06 (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) chr3:50597092G>AN/A show variant in all transcripts   IGV
HGNC symbol C3orf18
Ensembl transcript ID ENST00000422619
Genbank transcript ID N/A
UniProt peptide Q9UK00
alteration type single base exchange
alteration region CDS
DNA changes c.329C>T
cDNA.415C>T
g.11367C>T
AA changes A110V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 110
frameshift no
known variant Reference ID: rs1034405
databasehomozygous (A/A)heterozygousallele carriers
1000G17746222396
ExAC27687-226075080
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.5840.577
5.0851
(flanking)3.5211
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 112)
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased11371wt: 0.56 / mu: 0.72wt: GCCAATGCCATCCATGCGTGAGTGGCCTGGGACAAGCCTGG
mu: GCCAATGCCATCCATGTGTGAGTGGCCTGGGACAAGCCTGG		 gtga|GTGG
Donor marginally increased11360wt: 0.8623 / mu: 0.9488 (marginal change - not scored)wt: ATGCCATCCATGCGT
mu: ATGCCATCCATGTGT		 GCCA|tcca
distance from splice site 77
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      110LVFTDVANAIHA*
mutated  no alignment    n/a
Ptroglodytes  all identical  ENSPTRG00000014965  162LVFTDVANAIHA
Mmulatta  all identical  ENSMMUG00000010499  162LVFTDVANAIHA
Fcatus  all identical  ENSFCAG00000007017  162LVFTDVANAIHA
Mmusculus  all identical  ENSMUSG00000037977  164LVFTDVANAIHA
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000012231  168LVFTDVAKALNA
Drerio  all identical  ENSDARG00000078609  118LVFTDVADAINA
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 333 / 333
position (AA) of stopcodon in wt / mu AA sequence 111 / 111
position of stopcodon in wt / mu cDNA 419 / 419
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 87 / 87
chromosome 3
strand -1
last intron/exon boundary 339
theoretical NMD boundary in CDS 202
length of CDS 333
coding sequence (CDS) position 329
cDNA position
(for ins/del: last normal base / first normal base)		 415
gDNA position
(for ins/del: last normal base / first normal base)		 11367
chromosomal position
(for ins/del: last normal base / first normal base)		 50597092
original gDNA sequence snippet TGTGGCCAATGCCATCCATGCGTGAGTGGCCTGGGACAAGC
altered gDNA sequence snippet TGTGGCCAATGCCATCCATGTGTGAGTGGCCTGGGACAAGC
original cDNA sequence snippet TGTGGCCAATGCCATCCATGCGTGAGTGGCCTGGGACAAGC
altered cDNA sequence snippet TGTGGCCAATGCCATCCATGTGTGAGTGGCCTGGGACAAGC
wildtype AA sequence MSPSRRAAGF LRASSPCHLM LLLLLQVLYI RKKKRLEKLR HQLMPMYNFD PTEEQDELEQ
ELLEHGRDAA SVQAATSVQA MQGKTTLPSQ GPLQRPSRLV FTDVANAIHA *
mutated AA sequence MSPSRRAAGF LRASSPCHLM LLLLLQVLYI RKKKRLEKLR HQLMPMYNFD PTEEQDELEQ
ELLEHGRDAA SVQAATSVQA MQGKTTLPSQ GPLQRPSRLV FTDVANAIHV *
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