Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999934 (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) chr14:104381502T>CN/A show variant in all transcripts   IGV
HGNC symbol ATP5MPL
Ensembl transcript ID ENST00000555030
Genbank transcript ID N/A
UniProt peptide P56378
alteration type single base exchange
alteration region CDS
DNA changes c.25A>G
cDNA.76A>G
g.13105A>G
AA changes I9V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 9
frameshift no
known variant Reference ID: rs1053419
databasehomozygous (C/C)heterozygousallele carriers
1000G139640779
ExAC13931178413177
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.4030.012
0.2680.004
(flanking)-1.5910
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained130990.96mu: TTATTAAAAACGTAT ATTA|aaaa
Donor gained131040.45mu: AAAAACGTATGGATC AAAC|gtat
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      9 MLQSIIKNIWIPMKPYYTKVY
mutated  all conserved    9 MLQSIIKNVWIPMKPYYTKVYQ
Ptroglodytes  all identical  ENSPTRG00000006764  26 MLQSIIKNIWIPMKPYYTKVYQ
Mmulatta  all conserved  ENSMMUG00000004915  9 MLQSFIKNVWIPMKPYYTKVYQ
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021290  9 MFQTLIQKVWVPMKPYYTQVYQ
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 
1414MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
2038TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 300 / 300
position (AA) of stopcodon in wt / mu AA sequence 100 / 100
position of stopcodon in wt / mu cDNA 351 / 351
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 52 / 52
chromosome 14
strand -1
last intron/exon boundary 355
theoretical NMD boundary in CDS 253
length of CDS 300
coding sequence (CDS) position 25
cDNA position
(for ins/del: last normal base / first normal base)		 76
gDNA position
(for ins/del: last normal base / first normal base)		 13105
chromosomal position
(for ins/del: last normal base / first normal base)		 104381502
original gDNA sequence snippet TTCAAAGTATTATTAAAAACATATGGATCCCCATGAAGCCC
altered gDNA sequence snippet TTCAAAGTATTATTAAAAACGTATGGATCCCCATGAAGCCC
original cDNA sequence snippet TTCAAAGTATTATTAAAAACATATGGATCCCCATGAAGCCC
altered cDNA sequence snippet TTCAAAGTATTATTAAAAACGTATGGATCCCCATGAAGCCC
wildtype AA sequence MLQSIIKNIW IPMKPYYTKV YQEIWIGMGL MGFIVYKIRA AEMGFCHVTQ AGLELLGSSS
PPILASQSAG INKREPQHLA QLGNFEQDFN IRIIKEVRL*
mutated AA sequence MLQSIIKNVW IPMKPYYTKV YQEIWIGMGL MGFIVYKIRA AEMGFCHVTQ AGLELLGSSS
PPILASQSAG INKREPQHLA QLGNFEQDFN IRIIKEVRL*
speed 1.20 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