Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999991495974847 (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) chr13:36828237T>CN/A show variant in all transcripts   IGV
HGNC symbol CCDC169
Ensembl transcript ID ENST00000491049
Genbank transcript ID N/A
UniProt peptide A6NNP5
alteration type single base exchange
alteration region CDS
DNA changes c.53A>G
cDNA.305A>G
g.43741A>G
AA changes K18R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 18
frameshift no
known variant Reference ID: rs9546897
databasehomozygous (C/C)heterozygousallele carriers
1000G37811261504
ExAC219353047497
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0480.998
0.3320.995
(flanking)0.5060.995
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased43738wt: 0.9864 / mu: 0.9890 (marginal change - not scored)wt: AGAAAAGAAGACTCT
mu: AGAAAAGAGGACTCT		 AAAA|gaag
Donor gained437350.86mu: AGAAGAAAAGAGGAC AAGA|aaag
distance from splice site 44
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      18NTLLKQLEEEKKTLESQVKYYALK
mutated  all conserved    18NTLLKQLEEEKRTLESQVKYYAL
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000001175  n/a
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000048655  120NVLLKQLEKEKRSLESQVKEYAF
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000089570  118RQRLKLLSSEKSGLQAQLMDFRM
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000030268  125NQFLKHLDDEKILMENQLKDFEL
protein features
start (aa)end (aa)featuredetails 
29154COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 420 / 420
position (AA) of stopcodon in wt / mu AA sequence 140 / 140
position of stopcodon in wt / mu cDNA 672 / 672
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 253 / 253
chromosome 13
strand -1
last intron/exon boundary 492
theoretical NMD boundary in CDS 189
length of CDS 420
coding sequence (CDS) position 53
cDNA position
(for ins/del: last normal base / first normal base)		 305
gDNA position
(for ins/del: last normal base / first normal base)		 43741
chromosomal position
(for ins/del: last normal base / first normal base)		 36828237
original gDNA sequence snippet ACAGCTAGAAGAAGAAAAGAAGACTCTTGAAAGTCAAGTGA
altered gDNA sequence snippet ACAGCTAGAAGAAGAAAAGAGGACTCTTGAAAGTCAAGTGA
original cDNA sequence snippet ACAGCTAGAAGAAGAAAAGAAGACTCTTGAAAGTCAAGTGA
altered cDNA sequence snippet ACAGCTAGAAGAAGAAAAGAGGACTCTTGAAAGTCAAGTGA
wildtype AA sequence MPVESLNTLL KQLEEEKKTL ESQVKYYALK LEQESKAYQK INNERRTYLA EMSQGSGLHQ
VSKRQQVDQL PRMQENLVKT LLLKEELDPL KVSCLETLGF SAAGVAGPEN RTCLGQKALW
PACLHGSSTL AVCQTHLKS*
mutated AA sequence MPVESLNTLL KQLEEEKRTL ESQVKYYALK LEQESKAYQK INNERRTYLA EMSQGSGLHQ
VSKRQQVDQL PRMQENLVKT LLLKEELDPL KVSCLETLGF SAAGVAGPEN RTCLGQKALW
PACLHGSSTL AVCQTHLKS*
speed 0.85 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