Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999852 (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 ENST00000414262
Genbank transcript ID NM_001127393
UniProt peptide P56378
alteration type single base exchange
alteration region CDS
DNA changes c.76A>G
cDNA.326A>G
g.13105A>G
AA changes I26V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 26
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      26QCQMLQSIIKNIWIPMKPYYTKVY
mutated  all conserved    26QCQMLQSIIKNVWIPMKPYYTKV
Ptroglodytes  all identical  ENSPTRG00000006764  26QCQMLQSIIKNIWIPMKPYYTKV
Mmulatta  all conserved  ENSMMUG00000004915  9MLQSFIKNVWIPMKPYYTKV
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021290  9MFQTLIQKVWVPMKPYYTQV
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 
2038TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 228 / 228
position (AA) of stopcodon in wt / mu AA sequence 76 / 76
position of stopcodon in wt / mu cDNA 478 / 478
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 251 / 251
chromosome 14
strand -1
last intron/exon boundary 450
theoretical NMD boundary in CDS 149
length of CDS 228
coding sequence (CDS) position 76
cDNA position
(for ins/del: last normal base / first normal base)		 326
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 MKLYGTRGSD ISHFQCQMLQ SIIKNIWIPM KPYYTKVYQE IWIGMGLMGF IVYKIRAADK
RSKALKASAP APGHH*
mutated AA sequence MKLYGTRGSD ISHFQCQMLQ SIIKNVWIPM KPYYTKVYQE IWIGMGLMGF IVYKIRAADK
RSKALKASAP APGHH*
speed 1.22 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