Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.967353040705605 (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) chr1:1686040G>TN/A show variant in all transcripts   IGV
HGNC symbol NADK
Ensembl transcript ID ENST00000341991
Genbank transcript ID NM_001198993
UniProt peptide O95544
alteration type single base exchange
alteration region CDS
DNA changes c.786C>A
cDNA.871C>A
g.25857C>A
AA changes N262K Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 262
frameshift no
known variant Reference ID: rs4751
databasehomozygous (T/T)heterozygousallele carriers
1000G2118271038
ExAC83941597924373
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2430.05
-0.4220.046
(flanking)2.6220.881
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased25851wt: 0.41 / mu: 0.57wt: CTGGGTGAGAACGGC
mu: CTGGGTGAGAAAGGC		 GGGT|gaga
Donor gained258570.79mu: GAGAAAGGCTCGCAG GAAA|ggct
Donor gained258530.94mu: GGGTGAGAAAGGCTC GTGA|gaaa
distance from splice site 58
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      262KKTAVHNGLGENGSQAAGLDMDVG
mutated  not conserved    262KKTAVHNGLGEKGSQAAGLDMDV
Ptroglodytes  all identical  ENSPTRG00000000038  262KKTAVHNGLGENGSQAAGLDMDV
Mmulatta  no alignment  ENSMMUG00000010879  n/a
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000029063  263KKTAIHNGLSENG-----LDTEG
Ggallus  all identical  ENSGALG00000001359  261KMT-VQNGIEENGVVPTNIEKEV
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000076525  141KGPAEENSLKLTNG------DAEP
Dmelanogaster  not conserved  FBgn0053156  298DRKH------EAKTLEADLDGEA
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000019605  263KKTVLQNGVEENGLIVKS-EKEP
protein features
start (aa)end (aa)featuredetails 
277289STRANDmight get lost (downstream of altered splice site)
299303STRANDmight get lost (downstream of altered splice site)
306311STRANDmight get lost (downstream of altered splice site)
313319STRANDmight get lost (downstream of altered splice site)
321325HELIXmight get lost (downstream of altered splice site)
326333COMPBIASPoly-Ala.might get lost (downstream of altered splice site)
327330HELIXmight get lost (downstream of altered splice site)
343349STRANDmight get lost (downstream of altered splice site)
358360STRANDmight get lost (downstream of altered splice site)
366370STRANDmight get lost (downstream of altered splice site)
378382STRANDmight get lost (downstream of altered splice site)
385390STRANDmight get lost (downstream of altered splice site)
395400STRANDmight get lost (downstream of altered splice site)
405408STRANDmight get lost (downstream of altered splice site)
413424HELIXmight get lost (downstream of altered splice site)
437445COMPBIASPoly-Glu.might get lost (downstream of altered splice site)
445445CONFLICTE -> EE (in Ref. 2; BAB14412).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1341 / 1341
position (AA) of stopcodon in wt / mu AA sequence 447 / 447
position of stopcodon in wt / mu cDNA 1426 / 1426
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 86 / 86
chromosome 1
strand -1
last intron/exon boundary 1270
theoretical NMD boundary in CDS 1134
length of CDS 1341
coding sequence (CDS) position 786
cDNA position
(for ins/del: last normal base / first normal base)		 871
gDNA position
(for ins/del: last normal base / first normal base)		 25857
chromosomal position
(for ins/del: last normal base / first normal base)		 1686040
original gDNA sequence snippet CACAATGGGCTGGGTGAGAACGGCTCGCAGGCTGCAGGCCT
altered gDNA sequence snippet CACAATGGGCTGGGTGAGAAAGGCTCGCAGGCTGCAGGCCT
original cDNA sequence snippet CACAATGGGCTGGGTGAGAACGGCTCGCAGGCTGCAGGCCT
altered cDNA sequence snippet CACAATGGGCTGGGTGAGAAAGGCTCGCAGGCTGCAGGCCT
wildtype AA sequence MEMEQEKMTM NKELSPDAAA YCCSACHGDE TWSYNHPIRG RAKSRSLSAS PALGSTKEFR
RTRSLHGPCP VTTFGPKACV LQNPQTIMHI QDPASQRLTW NKSPKSVLVI KKMRDASLLQ
PFKELCTHLM EENMIVYVEK KVLEDPAIAS DESFGAVKKK FCTFREDYDD ISNQIDFIIC
LGGDGTLLYA SSLFQGSVPP VMAFHLGSLG FLTPFSFENF QSQVTQVIEG NAAVVLRSRL
KVRVVKELRG KKTAVHNGLG ENGSQAAGLD MDVGKQAMQY QVLNEVVIDR GPSSYLSNVD
VYLDGHLITT VQGDGVIVST PTGSTAYAAA AGASMIHPNV PAIMITPICP HSLSFRPIVV
PAGVELKIML SPEARNTAWV SFDGRKRQEI RHGDSISITT SCYPLPSICV RDPVSDWFES
LAQCLHWNVR KKQAHFEEEE EEEEEG*
mutated AA sequence MEMEQEKMTM NKELSPDAAA YCCSACHGDE TWSYNHPIRG RAKSRSLSAS PALGSTKEFR
RTRSLHGPCP VTTFGPKACV LQNPQTIMHI QDPASQRLTW NKSPKSVLVI KKMRDASLLQ
PFKELCTHLM EENMIVYVEK KVLEDPAIAS DESFGAVKKK FCTFREDYDD ISNQIDFIIC
LGGDGTLLYA SSLFQGSVPP VMAFHLGSLG FLTPFSFENF QSQVTQVIEG NAAVVLRSRL
KVRVVKELRG KKTAVHNGLG EKGSQAAGLD MDVGKQAMQY QVLNEVVIDR GPSSYLSNVD
VYLDGHLITT VQGDGVIVST PTGSTAYAAA AGASMIHPNV PAIMITPICP HSLSFRPIVV
PAGVELKIML SPEARNTAWV SFDGRKRQEI RHGDSISITT SCYPLPSICV RDPVSDWFES
LAQCLHWNVR KKQAHFEEEE EEEEEG*
speed 1.06 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