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 ENST00000356151
Genbank transcript ID NM_017771
UniProt peptide Q7Z7A4
alteration type single base exchange
alteration region CDS
DNA changes c.1442A>G
cDNA.1551A>G
g.77257A>G
AA changes K481R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 481
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      481SALENSEEHSAKYSNSNNSAGSGA
mutated  all conserved    481RYSNSNNSAGSG
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
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 1737 / 1737
position (AA) of stopcodon in wt / mu AA sequence 579 / 579
position of stopcodon in wt / mu cDNA 1846 / 1846
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 110 / 110
chromosome 3
strand 1
last intron/exon boundary 1638
theoretical NMD boundary in CDS 1478
length of CDS 1737
coding sequence (CDS) position 1442
cDNA position
(for ins/del: last normal base / first normal base)		 1551
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 QSHTEYIIRV QRGISVENSW QIVRRYSDFD
LLNNSLQIAG LSLPLPPKKL IGNMDREFIA ERQKGLQNYL NVITTNHILS NCELVKKFLD
PNNYSANYTE IALQQVSMFF RSEPKWEVVE PLKDIGWRIR KKYFLMKIKN QPKERLVLSW
ADLGPDKYLS DKDFQCLIKL LPSCLHPYIY RVTFATANES SALLIRMFNE KGTLKDLIYK
AKPKDPFLKK YCNPKKIQGL ELQQIKTYGR QILEVLKFLH DKGFPYGHLH ASNVMLDGDT
CRLLDLENSL LGLPSFYRSY FSQFRKINTL ESVDVHCFGH LLYEMTYGRP PDSVPVDSFP
PAPSMAVVAV LESTLSCEAC KNGMPTISRL LQMPLFSDVL LTTSEKPQFK IPTKLKEALR
IAKECIEKRL IEEQKQIHQH RRLTRAQSHH GSEEERKKRK ILARKKSKRS ALENSEEHSA
KYSNSNNSAG SGASSPLTSP SSPTPPSTSG ISALPPPPPP PPPPAAPLPP ASTEAPAQLS
SQAVNGMSRG ALLSSIQNFQ KGTLRKAKTC DHSAPKIG*
mutated AA sequence MAFMEKPPAG KVLLDDTVPL TAAIEASQSL QSHTEYIIRV QRGISVENSW QIVRRYSDFD
LLNNSLQIAG LSLPLPPKKL IGNMDREFIA ERQKGLQNYL NVITTNHILS NCELVKKFLD
PNNYSANYTE IALQQVSMFF RSEPKWEVVE PLKDIGWRIR KKYFLMKIKN QPKERLVLSW
ADLGPDKYLS DKDFQCLIKL LPSCLHPYIY RVTFATANES SALLIRMFNE KGTLKDLIYK
AKPKDPFLKK YCNPKKIQGL ELQQIKTYGR QILEVLKFLH DKGFPYGHLH ASNVMLDGDT
CRLLDLENSL LGLPSFYRSY FSQFRKINTL ESVDVHCFGH LLYEMTYGRP PDSVPVDSFP
PAPSMAVVAV LESTLSCEAC KNGMPTISRL LQMPLFSDVL LTTSEKPQFK IPTKLKEALR
IAKECIEKRL IEEQKQIHQH RRLTRAQSHH GSEEERKKRK ILARKKSKRS ALENSEEHSA
RYSNSNNSAG SGASSPLTSP SSPTPPSTSG ISALPPPPPP PPPPAAPLPP ASTEAPAQLS
SQAVNGMSRG ALLSSIQNFQ KGTLRKAKTC DHSAPKIG*
speed 1.27 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