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 ENST00000342348
Genbank transcript ID NM_001198995
UniProt peptide O95544
alteration type single base exchange
alteration region CDS
DNA changes c.690C>A
cDNA.801C>A
g.25857C>A
AA changes N230K Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 230
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      230KKTAVHNGLGENGSQAAGLDMDVG
mutated  not conserved    230KKTAVHNGLGEKGSQAAGLDMD
Ptroglodytes  all identical  ENSPTRG00000000038  262KKTAVHNGLGENGSQAAG
Mmulatta  no alignment  ENSMMUG00000010879  n/a
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000029063  263KKTAIHNGLSENG----
Ggallus  all identical  ENSGALG00000001359  261KMT-VQNGIEENGVVPT
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000076525  141KGPAEENSLKLTNG------DAEP
Dmelanogaster  not conserved  FBgn0053156  290AKTLEADLDGEA
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000019605  263KKTVLQNGVEENGLIVK
protein features
start (aa)end (aa)featuredetails 
220229HELIXmight get lost (downstream of altered splice site)
233237STRANDmight get lost (downstream of altered splice site)
240245STRANDmight get lost (downstream of altered splice site)
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 1245 / 1245
position (AA) of stopcodon in wt / mu AA sequence 415 / 415
position of stopcodon in wt / mu cDNA 1356 / 1356
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 112 / 112
chromosome 1
strand -1
last intron/exon boundary 1200
theoretical NMD boundary in CDS 1038
length of CDS 1245
coding sequence (CDS) position 690
cDNA position
(for ins/del: last normal base / first normal base)		 801
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 MGRPRVRQAW PGCCGHTGRL PAGRGYLASH MCDPAGAELI GDGMSDPTPP SNACTGHIQD
PASQRLTWNK SPKSVLVIKK MRDASLLQPF KELCTHLMEE NMIVYVEKKV LEDPAIASDE
SFGAVKKKFC TFREDYDDIS NQIDFIICLG GDGTLLYASS LFQGSVPPVM AFHLGSLGFL
TPFSFENFQS QVTQVIEGNA AVVLRSRLKV RVVKELRGKK TAVHNGLGEN GSQAAGLDMD
VGKQAMQYQV LNEVVIDRGP SSYLSNVDVY LDGHLITTVQ GDGVIVSTPT GSTAYAAAAG
ASMIHPNVPA IMITPICPHS LSFRPIVVPA GVELKIMLSP EARNTAWVSF DGRKRQEIRH
GDSISITTSC YPLPSICVRD PVSDWFESLA QCLHWNVRKK QAHFEEEEEE EEEG*
mutated AA sequence MGRPRVRQAW PGCCGHTGRL PAGRGYLASH MCDPAGAELI GDGMSDPTPP SNACTGHIQD
PASQRLTWNK SPKSVLVIKK MRDASLLQPF KELCTHLMEE NMIVYVEKKV LEDPAIASDE
SFGAVKKKFC TFREDYDDIS NQIDFIICLG GDGTLLYASS LFQGSVPPVM AFHLGSLGFL
TPFSFENFQS QVTQVIEGNA AVVLRSRLKV RVVKELRGKK TAVHNGLGEK GSQAAGLDMD
VGKQAMQYQV LNEVVIDRGP SSYLSNVDVY LDGHLITTVQ GDGVIVSTPT GSTAYAAAAG
ASMIHPNVPA IMITPICPHS LSFRPIVVPA GVELKIMLSP EARNTAWVSF DGRKRQEIRH
GDSISITTSC YPLPSICVRD PVSDWFESLA QCLHWNVRKK QAHFEEEEEE EEEG*
speed 1.03 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