Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.379204553755899 (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) chr19:14582468G>AN/A show variant in all transcripts   IGV
HGNC symbol PKN1
Ensembl transcript ID ENST00000342216
Genbank transcript ID NM_213560
UniProt peptide Q16512
alteration type single base exchange
alteration region CDS
DNA changes c.2719G>A
cDNA.2750G>A
g.38604G>A
AA changes V907I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 907
frameshift no
known variant Reference ID: rs10846
databasehomozygous (A/A)heterozygousallele carriers
1000G373511884
ExAC35721133314905
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3041
1.6361
(flanking)3.5731
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased38601wt: 0.2968 / mu: 0.3352 (marginal change - not scored)wt: CCACGCTGTCCGGCCGCACCGACGTCAGCAACTTCGACGAG
mu: CCACGCTGTCCGGCCGCACCGACATCAGCAACTTCGACGAG		 accg|ACGT
Donor marginally increased38607wt: 0.9272 / mu: 0.9611 (marginal change - not scored)wt: ACGTCAGCAACTTCG
mu: ACATCAGCAACTTCG		 GTCA|gcaa
Donor gained386000.58mu: CGCACCGACATCAGC CACC|gaca
distance from splice site 76
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      907PFVPTLSGRTDVSNFDEEFTGEAP
mutated  all conserved    907LSGRTDISNFDEEFTGEA
Ptroglodytes  all identical  ENSPTRG00000010591  900PFVPTVSGRTDVSNFD
Mmulatta  all identical  ENSMMUG00000005727  901PTLSGRTDVSNFDEEFTGEA
Fcatus  all identical  ENSFCAG00000013492  904PFVPTLSGRTDVSNFDEEFTGEA
Mmusculus  all identical  ENSMUSG00000057672  910TLSGRTDVSNFDEEFTGEA
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
875942DOMAINAGC-kinase C-terminal.lost
914914MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
916916MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2847 / 2847
position (AA) of stopcodon in wt / mu AA sequence 949 / 949
position of stopcodon in wt / mu cDNA 2878 / 2878
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 32 / 32
chromosome 19
strand 1
last intron/exon boundary 2675
theoretical NMD boundary in CDS 2593
length of CDS 2847
coding sequence (CDS) position 2719
cDNA position
(for ins/del: last normal base / first normal base)		 2750
gDNA position
(for ins/del: last normal base / first normal base)		 38604
chromosomal position
(for ins/del: last normal base / first normal base)		 14582468
original gDNA sequence snippet CGCTGTCCGGCCGCACCGACGTCAGCAACTTCGACGAGGAG
altered gDNA sequence snippet CGCTGTCCGGCCGCACCGACATCAGCAACTTCGACGAGGAG
original cDNA sequence snippet CGCTGTCCGGCCGCACCGACGTCAGCAACTTCGACGAGGAG
altered cDNA sequence snippet CGCTGTCCGGCCGCACCGACATCAGCAACTTCGACGAGGAG
wildtype AA sequence MAEANNPSEQ ELESEPRSWS LLEQLGLAGA DLAAPGVQQQ LELERERLRR EIRKELKLKE
GAENLRRATT DLGRSLGPVE LLLRGSSRRL DLLHQQLQEL HAHVVLPDPA ATHDGPQSPG
AGGPTCSATN LSRVAGLEKQ LAIELKVKQG AENMIQTYSN GSTKDRKLLL TAQQMLQDSK
TKIDIIRMQL RRALQAGQLE NQAAPDDTQG SPDLGAVELR IEELRHHFRV EHAVAEGAKN
VLRLLSAAKA PDRKAVSEAQ EKLTESNQKL GLLREALERR LGELPADHPK GRLLREELAA
ASSAAFSTRL AGPFPATHYS TLCKPAPLTG TLEVRVVGCR DLPETIPWNP TPSMGGPGTP
DSRPPFLSRP ARGLYSRSGS LSGRSSLKAE AENTSEVSTV LKLDNTVVGQ TSWKPCGPNA
WDQSFTLELE RARELELAVF WRDQRGLCAL KFLKLEDFLD NERHEVQLDM EPQGCLVAEV
TFRNPVIERI PRLRRQKKIF SKQQGKAFQR ARQMNIDVAT WVRLLRRLIP NATGTGTFSP
GASPGSEART TGDISVEKLN LGTDSDSSPQ KSSRDPPSSP SSLSSPIQES TAPELPSETQ
ETPGPALCSP LRKSPLTLED FKFLAVLGRG HFGKVLLSEF RPSGELFAIK ALKKGDIVAR
DEVESLMCEK RILAAVTSAG HPFLVNLFGC FQTPEHVCFV MEYSAGGDLM LHIHSDVFSE
PRAIFYSACV VLGLQFLHEH KIVYRDLKLD NLLLDTEGYV KIADFGLCKE GMGYGDRTST
FCGTPEFLAP EVLTDTSYTR AVDWWGLGVL LYEMLVGESP FPGDDEEEVF DSIVNDEVRY
PRFLSAEAIG IMRRLLRRNP ERRLGSSERD AEDVKKQPFF RTLGWEALLA RRLPPPFVPT
LSGRTDVSNF DEEFTGEAPT LSPPRDARPL TAAEQAAFLD FDFVAGGC*
mutated AA sequence MAEANNPSEQ ELESEPRSWS LLEQLGLAGA DLAAPGVQQQ LELERERLRR EIRKELKLKE
GAENLRRATT DLGRSLGPVE LLLRGSSRRL DLLHQQLQEL HAHVVLPDPA ATHDGPQSPG
AGGPTCSATN LSRVAGLEKQ LAIELKVKQG AENMIQTYSN GSTKDRKLLL TAQQMLQDSK
TKIDIIRMQL RRALQAGQLE NQAAPDDTQG SPDLGAVELR IEELRHHFRV EHAVAEGAKN
VLRLLSAAKA PDRKAVSEAQ EKLTESNQKL GLLREALERR LGELPADHPK GRLLREELAA
ASSAAFSTRL AGPFPATHYS TLCKPAPLTG TLEVRVVGCR DLPETIPWNP TPSMGGPGTP
DSRPPFLSRP ARGLYSRSGS LSGRSSLKAE AENTSEVSTV LKLDNTVVGQ TSWKPCGPNA
WDQSFTLELE RARELELAVF WRDQRGLCAL KFLKLEDFLD NERHEVQLDM EPQGCLVAEV
TFRNPVIERI PRLRRQKKIF SKQQGKAFQR ARQMNIDVAT WVRLLRRLIP NATGTGTFSP
GASPGSEART TGDISVEKLN LGTDSDSSPQ KSSRDPPSSP SSLSSPIQES TAPELPSETQ
ETPGPALCSP LRKSPLTLED FKFLAVLGRG HFGKVLLSEF RPSGELFAIK ALKKGDIVAR
DEVESLMCEK RILAAVTSAG HPFLVNLFGC FQTPEHVCFV MEYSAGGDLM LHIHSDVFSE
PRAIFYSACV VLGLQFLHEH KIVYRDLKLD NLLLDTEGYV KIADFGLCKE GMGYGDRTST
FCGTPEFLAP EVLTDTSYTR AVDWWGLGVL LYEMLVGESP FPGDDEEEVF DSIVNDEVRY
PRFLSAEAIG IMRRLLRRNP ERRLGSSERD AEDVKKQPFF RTLGWEALLA RRLPPPFVPT
LSGRTDISNF DEEFTGEAPT LSPPRDARPL TAAEQAAFLD FDFVAGGC*
speed 0.08 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