Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999989968 (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) chr18:48333203C>GN/A show variant in all transcripts   IGV
HGNC symbol MRO
Ensembl transcript ID ENST00000431965
Genbank transcript ID NM_001127175
UniProt peptide Q9BYG7
alteration type single base exchange
alteration region CDS
DNA changes c.159G>C
cDNA.308G>C
g.18570G>C
AA changes R53S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 53
frameshift no
known variant Reference ID: rs4940019
databasehomozygous (G/G)heterozygousallele carriers
1000G62110771698
ExAC17072-137715695
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H2AZ, Histone, Histone 2A variant Z
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6590.022
0.6040.028
(flanking)0.0150.033
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased18561wt: 0.4713 / mu: 0.5282 (marginal change - not scored)wt: CCCATCACCCAGGTCTCTTGGAAACTGAGGTTCCAGAAGCG
mu: CCCATCACCCAGGTCTCTTGGAAACTGAGCTTCCAGAAGCG		 ttgg|AAAC
Donor marginally increased18573wt: 0.9248 / mu: 0.9640 (marginal change - not scored)wt: AGGTTCCAGAAGCGG
mu: AGCTTCCAGAAGCGG		 GTTC|caga
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      53RLQEPQVSWKLRFQKREPLKNVFF
mutated  not conserved    53RLQEPQVSWKLSFQKREPL
Ptroglodytes  all identical  ENSPTRG00000010025  53RLQEPQVSWKLRFQKREPL
Mmulatta  all conserved  ENSMMUG00000022472  50KMCTTSVLKCLQMCTRSVLKYVY
Fcatus  not conserved  ENSFCAG00000005654  39KISWTVSLQKQEPPKNVF
Mmusculus  all identical  ENSMUSG00000064036  36KVSWKLRLQKRELLKNAL
Ggallus  no homologue    
Trubripes  no homologue    
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 633 / 633
position (AA) of stopcodon in wt / mu AA sequence 211 / 211
position of stopcodon in wt / mu cDNA 782 / 782
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 150 / 150
chromosome 18
strand -1
last intron/exon boundary 729
theoretical NMD boundary in CDS 529
length of CDS 633
coding sequence (CDS) position 159
cDNA position
(for ins/del: last normal base / first normal base)		 308
gDNA position
(for ins/del: last normal base / first normal base)		 18570
chromosomal position
(for ins/del: last normal base / first normal base)		 48333203
original gDNA sequence snippet CAGGTCTCTTGGAAACTGAGGTTCCAGAAGCGGGAGCCTCT
altered gDNA sequence snippet CAGGTCTCTTGGAAACTGAGCTTCCAGAAGCGGGAGCCTCT
original cDNA sequence snippet CAGGTCTCTTGGAAACTGAGGTTCCAGAAGCGGGAGCCTCT
altered cDNA sequence snippet CAGGTCTCTTGGAAACTGAGCTTCCAGAAGCGGGAGCCTCT
wildtype AA sequence MAWGSKGIQG WENLAESSHL ATTRESSPPE SGTGSGSSRG SRLQEPQVSW KLRFQKREPL
KNVFFILAER ARDPSAKKRH MAMRNLGTMA YEAPDKVRKY KKIVLDLLVY GLYDPVNLEV
IHESMKTLTV VLGKIQGKGL GSFFIDITLQ TRTLLDDACK TTFQACSPYL KLKEEYSFQS
EEDQRNTKLY QQLSHYHPEI LQFFYANKIL *
mutated AA sequence MAWGSKGIQG WENLAESSHL ATTRESSPPE SGTGSGSSRG SRLQEPQVSW KLSFQKREPL
KNVFFILAER ARDPSAKKRH MAMRNLGTMA YEAPDKVRKY KKIVLDLLVY GLYDPVNLEV
IHESMKTLTV VLGKIQGKGL GSFFIDITLQ TRTLLDDACK TTFQACSPYL KLKEEYSFQS
EEDQRNTKLY QQLSHYHPEI LQFFYANKIL *
speed 0.31 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