Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999995252558 (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) chr6:29634003G>CN/A show variant in all transcripts   IGV
HGNC symbol MOG
Ensembl transcript ID ENST00000376917
Genbank transcript ID NM_206809
UniProt peptide Q16653
alteration type single base exchange
alteration region CDS
DNA changes c.511G>C
cDNA.740G>C
g.9246G>C
AA changes V171L Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 171
frameshift no
known variant Reference ID: rs2857766
databasehomozygous (C/C)heterozygousallele carriers
1000G96712808
ExAC32441932122565
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.5760
-0.0140.013
(flanking)1.4110.179
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 increased9237wt: 0.8208 / mu: 0.8540 (marginal change - not scored)wt: TGCTGCCTGTGCTCCTCCTGCAGATCACTGTTGGCCTCATC
mu: TGCTGCCTGTGCTCCTCCTGCAGATCACTCTTGGCCTCATC		 ctgc|AGAT
Donor increased9238wt: 0.25 / mu: 0.49wt: CCTGCAGATCACTGT
mu: CCTGCAGATCACTCT		 TGCA|gatc
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      171AVLPVLLLQITVGLIFLCLQYRLR
mutated  all conserved    171AVLPVLLLQITLGLIFLCLQY
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000002967  171AVLPVLLLQITVGLVFLCLQY
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000076439  171ALVPTILLQVSVGLVFLFLQH
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 
155175TRANSMEMHelical; (Potential).lost
176210TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
211231TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
232247TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 744 / 744
position (AA) of stopcodon in wt / mu AA sequence 248 / 248
position of stopcodon in wt / mu cDNA 973 / 973
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 230 / 230
chromosome 6
strand 1
last intron/exon boundary 960
theoretical NMD boundary in CDS 680
length of CDS 744
coding sequence (CDS) position 511
cDNA position
(for ins/del: last normal base / first normal base)		 740
gDNA position
(for ins/del: last normal base / first normal base)		 9246
chromosomal position
(for ins/del: last normal base / first normal base)		 29634003
original gDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered gDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
original cDNA sequence snippet TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC
altered cDNA sequence snippet TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC
wildtype AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEDPFYW VSPGVLVLLA VLPVLLLQIT VGLIFLCLQY
RLRGKLRAEI ENLHRTFDPH FLRVPCWKIT LFVIVPVLGP LVALIICYNW LHRRLAGQFL
EELRNPF*
mutated AA sequence MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEDPFYW VSPGVLVLLA VLPVLLLQIT LGLIFLCLQY
RLRGKLRAEI ENLHRTFDPH FLRVPCWKIT LFVIVPVLGP LVALIICYNW LHRRLAGQFL
EELRNPF*
speed 0.57 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