Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.194436994573912 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:48331553T>CN/A show variant in all transcripts   IGV
HGNC symbol MRO
Ensembl transcript ID ENST00000588444
Genbank transcript ID NM_001127174
UniProt peptide Q9BYG7
alteration type single base exchange
alteration region CDS
DNA changes c.400A>G
cDNA.476A>G
g.20220A>G
AA changes T134A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 134
frameshift no
known variant Reference ID: rs2849233
databasehomozygous (C/C)heterozygousallele carriers
1000G2228401062
ExAC85571565324210
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.9430.981
2.7841
(flanking)1.9021
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased20213wt: 0.38 / mu: 0.47wt: GGTTTGGGTTCCTTCTTCATAGATATCACCCTTCAGACCAG
mu: GGTTTGGGTTCCTTCTTCATAGATATCGCCCTTCAGACCAG		 cata|GATA
Acc marginally increased20210wt: 0.9758 / mu: 0.9813 (marginal change - not scored)wt: AAAGGTTTGGGTTCCTTCTTCATAGATATCACCCTTCAGAC
mu: AAAGGTTTGGGTTCCTTCTTCATAGATATCGCCCTTCAGAC		 cttc|ATAG
Acc marginally increased20214wt: 0.9931 / mu: 0.9932 (marginal change - not scored)wt: GTTTGGGTTCCTTCTTCATAGATATCACCCTTCAGACCAGG
mu: GTTTGGGTTCCTTCTTCATAGATATCGCCCTTCAGACCAGG		 atag|ATAT
Acc increased20228wt: 0.47 / mu: 0.57wt: TTCATAGATATCACCCTTCAGACCAGGACTTTATTAGATGA
mu: TTCATAGATATCGCCCTTCAGACCAGGACTTTATTAGATGA		 tcag|ACCA
Acc increased20227wt: 0.71 / mu: 0.87wt: CTTCATAGATATCACCCTTCAGACCAGGACTTTATTAGATG
mu: CTTCATAGATATCGCCCTTCAGACCAGGACTTTATTAGATG		 ttca|GACC
Acc marginally increased20212wt: 0.8337 / mu: 0.8578 (marginal change - not scored)wt: AGGTTTGGGTTCCTTCTTCATAGATATCACCCTTCAGACCA
mu: AGGTTTGGGTTCCTTCTTCATAGATATCGCCCTTCAGACCA		 tcat|AGAT
Acc marginally increased20211wt: 0.6134 / mu: 0.6182 (marginal change - not scored)wt: AAGGTTTGGGTTCCTTCTTCATAGATATCACCCTTCAGACC
mu: AAGGTTTGGGTTCCTTCTTCATAGATATCGCCCTTCAGACC		 ttca|TAGA
distance from splice site 30
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      134GKGLGSFFIDITLQTRTLLDDACK
mutated  not conserved    134GKGLGSFFIDIALQTRTLLDDAC
Ptroglodytes  all identical  ENSPTRG00000010025  148GKGLGSFFIDITLQTRTLLDDENDSLRYSA
Mmulatta  all identical  ENSMMUG00000022472  146GKGLGSFFIDITLQTRTLLDDENDSLRYSAFVLFGQLAAFAGRKWKKFFTGQ
Fcatus  all identical  ENSFCAG00000005654  134GKSLGSFFIDITLQARTLLDDENDDLRYSA
Mmusculus  all identical  ENSMUSG00000064036  132HGLGSFFIDITLQARTLLDDEDDSVRYSAFVLFGQLASFAGWRWKKFFTQQVNQTQDSLL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
128163REPEATHEAT.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 591 / 591
position (AA) of stopcodon in wt / mu AA sequence 197 / 197
position of stopcodon in wt / mu cDNA 667 / 667
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 77 / 77
chromosome 18
strand -1
last intron/exon boundary 614
theoretical NMD boundary in CDS 487
length of CDS 591
coding sequence (CDS) position 400
cDNA position
(for ins/del: last normal base / first normal base)		 476
gDNA position
(for ins/del: last normal base / first normal base)		 20220
chromosomal position
(for ins/del: last normal base / first normal base)		 48331553
original gDNA sequence snippet GTTCCTTCTTCATAGATATCACCCTTCAGACCAGGACTTTA
altered gDNA sequence snippet GTTCCTTCTTCATAGATATCGCCCTTCAGACCAGGACTTTA
original cDNA sequence snippet GTTCCTTCTTCATAGATATCACCCTTCAGACCAGGACTTTA
altered cDNA sequence snippet GTTCCTTCTTCATAGATATCGCCCTTCAGACCAGGACTTTA
wildtype AA sequence MDQRQRRILG QPLSIPTSQP KQKRTSMISF FSKVSWKLRF QKREPLKNVF FILAERARDP
SAKKRHMAMR NLGTMAYEAP DKVRKYKKIV LDLLVYGLYD PVNLEVIHES MKTLTVVLGK
IQGKGLGSFF IDITLQTRTL LDDACKTTFQ ACSPYLKLKE EYSFQSEEDQ RNTKLYQQLS
HYHPEILQFF YANKIL*
mutated AA sequence MDQRQRRILG QPLSIPTSQP KQKRTSMISF FSKVSWKLRF QKREPLKNVF FILAERARDP
SAKKRHMAMR NLGTMAYEAP DKVRKYKKIV LDLLVYGLYD PVNLEVIHES MKTLTVVLGK
IQGKGLGSFF IDIALQTRTL LDDACKTTFQ ACSPYLKLKE EYSFQSEEDQ RNTKLYQQLS
HYHPEILQFF YANKIL*
speed 0.70 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