Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 1.44894381767654e-30 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr17:13980350G>AN/A show variant in all transcripts   IGV
HGNC symbol COX10
Ensembl transcript ID ENST00000537334
Genbank transcript ID N/A
UniProt peptide Q12887
alteration type single base exchange
alteration region intron
DNA changes g.7538G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2072279
databasehomozygous (A/A)heterozygousallele carriers
1000G56811871755
ExAC14893298117874
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.4180.891
3.9140.89
(flanking)-2.0990.128
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -50) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor gained75340.71mu: TTTTGGCTCAACTAT TTGG|ctca
distance from splice site 2577
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
11TRANSITMitochondrion (Potential). - EXACT POSITION UNKNOWNmight get lost (downstream of altered splice site)
174194TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
235255TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
257277TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
280300TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
303303CONFLICTA -> T (in Ref. 1; AAA21148).might get lost (downstream of altered splice site)
309329TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
364384TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
394394CONFLICTY -> H (in Ref. 1; AAA21148).might get lost (downstream of altered splice site)
411431TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 332 / 332
chromosome 17
strand 1
last intron/exon boundary 609
theoretical NMD boundary in CDS 227
length of CDS 681
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 7538
chromosomal position
(for ins/del: last normal base / first normal base)		 13980350
original gDNA sequence snippet TTTGCCAGGAATTTTGGCTCGACTATCCAAAATCAAACTCA
altered gDNA sequence snippet TTTGCCAGGAATTTTGGCTCAACTATCCAAAATCAAACTCA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MNRTKNRPLV RGQISPLLAV SFATCCAVPG VAILTLGVNP LTGALGLFNI FLYTCCYTPL
KRISIANTWV GAVVGAIPPV MGWTAATGSL DAGAFLLGGI LYSWQFPHFN ALSWGLREDY
SRGGYCMMSV THPGLCRRVA LRHCLALLVL SAAAPVLDIT TWTFPIMALP INAYISYLGF
RFYVDADRRS SRRLFFCSLW HLPLLLLLML TCKRPSGGGD AGPPPS*
mutated AA sequence N/A
speed 0.78 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