Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00729939684380207 (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) chr3:58395863A>GN/A show variant in all transcripts   IGV
HGNC symbol PXK
Ensembl transcript ID ENST00000536660
Genbank transcript ID N/A
UniProt peptide Q7Z7A4
alteration type single base exchange
alteration region CDS
DNA changes c.1031A>G
cDNA.1190A>G
g.77257A>G
AA changes K344R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 344
frameshift no
known variant Reference ID: rs56384862
databasehomozygous (G/G)heterozygousallele carriers
1000G131626757
ExAC55102174727257
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.7890.992
2.4581
(flanking)0.6191
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained772560.69mu: CAGCGAGGTACAGCA GCGA|ggta
distance from splice site 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      344SALENSEEHSAKYSNSNNSAGSGA
mutated  all conserved    344SALENSEEHSARYSNSNNSAGSG
Ptroglodytes  all identical  ENSPTRG00000015058  481SALENSEEHSAKYSNSNNSAGSG
Mmulatta  not conserved  ENSMMUG00000006432  479WTLHQSKSLSGSQPGPNSKSGSG
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033885  481SAVENSEEQPVKHSNSNNSAGSG
Ggallus  all identical  ENSGALG00000007052  477SAYESAEEHSAKYSNSNNSAGSG
Trubripes  all conserved  ENSTRUG00000002410  480TACETEEDVSAR----NNNSGSG
Drerio  all identical  ENSDARG00000063195  485STYEIEEDLSVKY--NNNSAGSG
Dmelanogaster  not conserved  FBgn0033244  527SKLKQQSSIQTNNGRLSLVAATAAAASSSTTVVGEL
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000008675  482TSCDTGEEQAMKSNNSNNSGSTGSG
protein features
start (aa)end (aa)featuredetails 
88481DOMAINProtein kinase.lost
459459CONFLICTR -> K (in Ref. 2; AAR98521).might get lost (downstream of altered splice site)
489489CONFLICTMissing (in Ref. 6; BAD18536).might get lost (downstream of altered splice site)
548567DOMAINWH2.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1326 / 1326
position (AA) of stopcodon in wt / mu AA sequence 442 / 442
position of stopcodon in wt / mu cDNA 1485 / 1485
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 160 / 160
chromosome 3
strand 1
last intron/exon boundary 1277
theoretical NMD boundary in CDS 1067
length of CDS 1326
coding sequence (CDS) position 1031
cDNA position
(for ins/del: last normal base / first normal base)		 1190
gDNA position
(for ins/del: last normal base / first normal base)		 77257
chromosomal position
(for ins/del: last normal base / first normal base)		 58395863
original gDNA sequence snippet TAGTGAAGAGCATTCAGCGAAGTACAGCAACTCCAATAATT
altered gDNA sequence snippet TAGTGAAGAGCATTCAGCGAGGTACAGCAACTCCAATAATT
original cDNA sequence snippet TAGTGAAGAGCATTCAGCGAAGTACAGCAACTCCAATAATT
altered cDNA sequence snippet TAGTGAAGAGCATTCAGCGAGGTACAGCAACTCCAATAATT
wildtype AA sequence MFFRSEPKWE VVEPLKDIGW RIRKKYFLMK IKNQPKERLV LSWADLGPDK YLSDKDFQCL
IKLLPSCLHP YIYRVTFATA NESSALLIRM FNEKGTLKDL IYKAKPKDPF LKKYCNPKKI
QGLELQQIKT YGRQILEVLK FLHDKGFPYG HLHASNVMLD GDTCRLLDLE NSLLGLPSFY
RSYFSQFRKI NTLESVDVHC FGHLLYEMTY GRPPDSVPVD SFPPAPSMAV VAVLESTLSC
EACKNGMPTI SRLLQMPLFS DVLLTTSEKP QFKIPTKLKE ALRIAKECIE KRLIEEQKQI
HQHRRLTRAQ SHHGSEEERK KRKILARKKS KRSALENSEE HSAKYSNSNN SAGSGASSPL
TSPSSPTPPS TSGISALPPP PPPPPPPAAP LPPASTEAPA QLSSQAVNGM SRGALLSSIQ
NFQKGTLRKA KTCDHSAPKI G*
mutated AA sequence MFFRSEPKWE VVEPLKDIGW RIRKKYFLMK IKNQPKERLV LSWADLGPDK YLSDKDFQCL
IKLLPSCLHP YIYRVTFATA NESSALLIRM FNEKGTLKDL IYKAKPKDPF LKKYCNPKKI
QGLELQQIKT YGRQILEVLK FLHDKGFPYG HLHASNVMLD GDTCRLLDLE NSLLGLPSFY
RSYFSQFRKI NTLESVDVHC FGHLLYEMTY GRPPDSVPVD SFPPAPSMAV VAVLESTLSC
EACKNGMPTI SRLLQMPLFS DVLLTTSEKP QFKIPTKLKE ALRIAKECIE KRLIEEQKQI
HQHRRLTRAQ SHHGSEEERK KRKILARKKS KRSALENSEE HSARYSNSNN SAGSGASSPL
TSPSSPTPPS TSGISALPPP PPPPPPPAAP LPPASTEAPA QLSSQAVNGM SRGALLSSIQ
NFQKGTLRKA KTCDHSAPKI G*
speed 1.28 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