Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00729939684380206 (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 ENST00000383716
Genbank transcript ID N/A
UniProt peptide Q7Z7A4
alteration type single base exchange
alteration region CDS
DNA changes c.1343A>G
cDNA.1442A>G
g.77257A>G
AA changes K448R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 448
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      448SALENSEEHSAKYSNSNNSAGSGA
mutated  all conserved    448SALENSEEHSARYSNSNNSAGSG
Ptroglodytes  all identical  ENSPTRG00000015058  481KYSNSNNSAGSG
Mmulatta  not conserved  ENSMMUG00000006432  479SQPGPNSKSGSG
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033885  481KHSNSNNSAGSG
Ggallus  all identical  ENSGALG00000007052  477SAYESAEEHSAKYSNSNNSA
Trubripes  all conserved  ENSTRUG00000002410  480R----NNNSGSG
Drerio  all identical  ENSDARG00000063195  485DLSVKY--NNNSAGSG
Dmelanogaster  not conserved  FBgn0033244  527SKLKQQSSIQTNNGRLSLVAATAAAASSSTTV
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000008675  482MKSNNSNNSGSTGSG
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 1638 / 1638
position (AA) of stopcodon in wt / mu AA sequence 546 / 546
position of stopcodon in wt / mu cDNA 1737 / 1737
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 100 / 100
chromosome 3
strand 1
last intron/exon boundary 1529
theoretical NMD boundary in CDS 1379
length of CDS 1638
coding sequence (CDS) position 1343
cDNA position
(for ins/del: last normal base / first normal base)		 1442
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 MAFMEKPPAG KVLLDDTVPL TAAIEASQSL QSHTIAGLSL PLPPKKLIGN MDREFIAERQ
KGLQNYLNVI TTNHILSNCE LVKKFLDPNN YSANYTEIAL QQVSMFFRSE PKWEVVEPLK
DIGWRIRKKY FLMKIKNQPK ERLVLSWADL GPDKYLSDKD FQCLIKLLPS CLHPYIYRVT
FATANESSAL LIRMFNEKGT LKDLIYKAKP KDPFLKKYCN PKKIQGLELQ QIKTYGRQIL
EVLKFLHDKG FPYGHLHASN VMLDGDTCRL LDLENSLLGL PSFYRSYFSQ FRKINTLESV
DVHCFGHLLY EMTYGRPPDS VPVDSFPPAP SMAVVAVLES TLSCEACKNG MPTISRLLQM
PLFSDVLLTT SEKPQFKIPT KLKEALRIAK ECIEKRLIEE QKQIHQHRRL TRAQSHHGSE
EERKKRKILA RKKSKRSALE NSEEHSAKYS NSNNSAGSGA SSPLTSPSSP TPPSTSGISA
LPPPPPPPPP PAAPLPPAST EAPAQLSSQA VNGMSRGALL SSIQNFQKGT LRKAKTCDHS
APKIG*
mutated AA sequence MAFMEKPPAG KVLLDDTVPL TAAIEASQSL QSHTIAGLSL PLPPKKLIGN MDREFIAERQ
KGLQNYLNVI TTNHILSNCE LVKKFLDPNN YSANYTEIAL QQVSMFFRSE PKWEVVEPLK
DIGWRIRKKY FLMKIKNQPK ERLVLSWADL GPDKYLSDKD FQCLIKLLPS CLHPYIYRVT
FATANESSAL LIRMFNEKGT LKDLIYKAKP KDPFLKKYCN PKKIQGLELQ QIKTYGRQIL
EVLKFLHDKG FPYGHLHASN VMLDGDTCRL LDLENSLLGL PSFYRSYFSQ FRKINTLESV
DVHCFGHLLY EMTYGRPPDS VPVDSFPPAP SMAVVAVLES TLSCEACKNG MPTISRLLQM
PLFSDVLLTT SEKPQFKIPT KLKEALRIAK ECIEKRLIEE QKQIHQHRRL TRAQSHHGSE
EERKKRKILA RKKSKRSALE NSEEHSARYS NSNNSAGSGA SSPLTSPSSP TPPSTSGISA
LPPPPPPPPP PAAPLPPAST EAPAQLSSQA VNGMSRGALL SSIQNFQKGT LRKAKTCDHS
APKIG*
speed 1.21 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