Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999994153 (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) chr2:234750542G>CN/A show variant in all transcripts   IGV
HGNC symbol HJURP
Ensembl transcript ID ENST00000411486
Genbank transcript ID NM_018410
UniProt peptide Q8NCD3
alteration type single base exchange
alteration region CDS
DNA changes c.884C>G
cDNA.950C>G
g.12671C>G
AA changes S295C Score: 112 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 295
frameshift no
known variant Reference ID: rs3732215
databasehomozygous (C/C)heterozygousallele carriers
1000G3769991375
ExAC14264423918503
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.1340
-0.1720
(flanking)-0.1030
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased12671wt: 0.38 / mu: 0.51wt: GAACTCCAGGAGGAG
mu: GAACTGCAGGAGGAG		 ACTC|cagg
distance from splice site 310
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      295STKTFIMQNWNSRRRHRYKSRMNK
mutated  not conserved    295STKTFIMQNWNCRRRHR
Ptroglodytes  all identical  ENSPTRG00000013062  295STKTFIMQNWNSRRRHR
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000009698  153STKTSFVLHNWSSRRRCS-RSRVN
Mmusculus  not conserved  ENSMUSG00000044783  278STKTYINQSWKLRRRPSRKQGLHK
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 
412412MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
448448MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
473473MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
486486MOD_RESPhosphoserine; by PKB/AKT1.might get lost (downstream of altered splice site)
486486MUTAGENS->A: Loss of phosphorylation by AKT1 and binding to YWHAG.might get lost (downstream of altered splice site)
613613CONFLICTS -> C (in Ref. 3; BAG63122).might get lost (downstream of altered splice site)
642642MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
733733CONFLICTE -> G (in Ref. 3; BAG63122).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2247 / 2247
position (AA) of stopcodon in wt / mu AA sequence 749 / 749
position of stopcodon in wt / mu cDNA 2313 / 2313
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 67 / 67
chromosome 2
strand -1
last intron/exon boundary 2238
theoretical NMD boundary in CDS 2121
length of CDS 2247
coding sequence (CDS) position 884
cDNA position
(for ins/del: last normal base / first normal base)		 950
gDNA position
(for ins/del: last normal base / first normal base)		 12671
chromosomal position
(for ins/del: last normal base / first normal base)		 234750542
original gDNA sequence snippet CATCATGCAAAACTGGAACTCCAGGAGGAGGCACAGATATA
altered gDNA sequence snippet CATCATGCAAAACTGGAACTGCAGGAGGAGGCACAGATATA
original cDNA sequence snippet CATCATGCAAAACTGGAACTCCAGGAGGAGGCACAGATATA
altered cDNA sequence snippet CATCATGCAAAACTGGAACTGCAGGAGGAGGCACAGATATA
wildtype AA sequence MLGTLRAMEG EDVEDDQLLQ KLRASRRRFQ RRMQRLIEKY NQPFEDTPVV QMATLTYETP
QGLRIWGGRL IKERNEGEIQ DSSMKPADRT DGSVQAAAWG PELPSHRTVL GADSKSGEVD
ATSDQEESVA WALAPAVPQS PLKNELRRKY LTQVDILLQG AEYFECAGNR AGRDVRVTPL
PSLASPAVPA PGYCSRISRK SPGDPAKPAS SPREWDPLHP SSTDMALVPR NDSLSLQETS
SSSFLSSQPF EDDDICNVTI SDLYAGMLHS MSRLLSTKPS SIISTKTFIM QNWNSRRRHR
YKSRMNKTYC KGARRSQRSS KENFIPCSEP VKGTGALRDC KNVLDVSCRK TGLKLEKAFL
EVNRPQIHKL DPSWKERKVT PSKYSSLIYF DSSATYNLDE ENRFRTLKWL ISPVKIVSRP
TIRQGHGENR QREIEIRFDQ LHREYCLSPR NQPRRMCLPD SWAMNMYRGG PASPGGLQGL
ETRRLSLPSS KAKAKSLSEA FENLGKRSLE AGRCLPKSDS SSSLPKTNPT HSATRPQQTS
DLHVQGNSSG IFRKSVSPSK TLSVPDKEVP GHGRNRYDEI KEEFDKLHQK YCLKSPGQMT
VPLCIGVSTD KASMEVRYQT EGFLGKLNPD PHFQGFQKLP SSPLGCRKSL LGSTAIEAPS
STCVARAITR DGTRDHQFPA KRPRLSEPQG SGRQGNSLGA SDGVDNTVRP GDQGSSSQPN
SEERGENTSY RMEEKSDFML EKLETKSV*
mutated AA sequence MLGTLRAMEG EDVEDDQLLQ KLRASRRRFQ RRMQRLIEKY NQPFEDTPVV QMATLTYETP
QGLRIWGGRL IKERNEGEIQ DSSMKPADRT DGSVQAAAWG PELPSHRTVL GADSKSGEVD
ATSDQEESVA WALAPAVPQS PLKNELRRKY LTQVDILLQG AEYFECAGNR AGRDVRVTPL
PSLASPAVPA PGYCSRISRK SPGDPAKPAS SPREWDPLHP SSTDMALVPR NDSLSLQETS
SSSFLSSQPF EDDDICNVTI SDLYAGMLHS MSRLLSTKPS SIISTKTFIM QNWNCRRRHR
YKSRMNKTYC KGARRSQRSS KENFIPCSEP VKGTGALRDC KNVLDVSCRK TGLKLEKAFL
EVNRPQIHKL DPSWKERKVT PSKYSSLIYF DSSATYNLDE ENRFRTLKWL ISPVKIVSRP
TIRQGHGENR QREIEIRFDQ LHREYCLSPR NQPRRMCLPD SWAMNMYRGG PASPGGLQGL
ETRRLSLPSS KAKAKSLSEA FENLGKRSLE AGRCLPKSDS SSSLPKTNPT HSATRPQQTS
DLHVQGNSSG IFRKSVSPSK TLSVPDKEVP GHGRNRYDEI KEEFDKLHQK YCLKSPGQMT
VPLCIGVSTD KASMEVRYQT EGFLGKLNPD PHFQGFQKLP SSPLGCRKSL LGSTAIEAPS
STCVARAITR DGTRDHQFPA KRPRLSEPQG SGRQGNSLGA SDGVDNTVRP GDQGSSSQPN
SEERGENTSY RMEEKSDFML EKLETKSV*
speed 0.61 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