Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.992156175473178 (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) chr1:41485902C>GN/A show variant in all transcripts   IGV
HGNC symbol SLFNL1
Ensembl transcript ID ENST00000372611
Genbank transcript ID N/A
UniProt peptide Q499Z3
alteration type single base exchange
alteration region CDS
DNA changes c.431G>C
cDNA.740G>C
g.3008G>C
AA changes R144T Score: 71 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 144
frameshift no
known variant Reference ID: rs3738368
databasehomozygous (G/G)heterozygousallele carriers
1000G113686799
ExAC46502178926439
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0990.913
1.1820.905
(flanking)0.8050.852
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased3009wt: 0.25 / mu: 0.57wt: CACAGAGAGGTAAGT
mu: CACACAGAGGTAAGT		 CAGA|gagg
Donor marginally increased3001wt: 0.9336 / mu: 0.9561 (marginal change - not scored)wt: CCTTCAGCCACAGAG
mu: CCTTCAGCCACACAG		 TTCA|gcca
Donor marginally increased3011wt: 0.9967 / mu: 0.9975 (marginal change - not scored)wt: CAGAGAGGTAAGTGG
mu: CACAGAGGTAAGTGG		 GAGA|ggta
Donor increased3006wt: 0.41 / mu: 0.64wt: AGCCACAGAGAGGTA
mu: AGCCACACAGAGGTA		 CCAC|agag
distance from splice site 5
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      144LLSEAQGPFSHREQIVGKDQLFQG
mutated  not conserved    144LLSEAQGPFSHTEQIVGKDQLFQ
Ptroglodytes  all identical  ENSPTRG00000000600  144LLSEAQGPFSHREEKEEEEEDSGLSP
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000015323  144VLGDGRGPSRGREREDDSSRSPSPNPANSPPARAPQRSQDRPSGTRSDS
Mmusculus  no alignment  ENSMUSG00000047518  n/a
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 
261268NP_BINDATP (Potential).might get lost (downstream of altered splice site)
280280CONFLICTR -> S (in Ref. 3; AAH37879).might get lost (downstream of altered splice site)
366398COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1047 / 1047
position (AA) of stopcodon in wt / mu AA sequence 349 / 349
position of stopcodon in wt / mu cDNA 1356 / 1356
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 310 / 310
chromosome 1
strand -1
last intron/exon boundary 1234
theoretical NMD boundary in CDS 874
length of CDS 1047
coding sequence (CDS) position 431
cDNA position
(for ins/del: last normal base / first normal base)		 740
gDNA position
(for ins/del: last normal base / first normal base)		 3008
chromosomal position
(for ins/del: last normal base / first normal base)		 41485902
original gDNA sequence snippet CCAAGGGCCCTTCAGCCACAGAGAGGTAAGTGGGACTTTTC
altered gDNA sequence snippet CCAAGGGCCCTTCAGCCACACAGAGGTAAGTGGGACTTTTC
original cDNA sequence snippet CCAAGGGCCCTTCAGCCACAGAGAGCAGATCGTGGGCAAGG
altered cDNA sequence snippet CCAAGGGCCCTTCAGCCACACAGAGCAGATCGTGGGCAAGG
wildtype AA sequence MTPMKRSVQT QVSEPFMESW GEESLPELPA EQSLTEYSDL EEAPSAHTLY VGHLNPQFSV
PVLACLLRDT LERLEMPVAR EHIEVVRRPR KAYALVQVTV HRDTLASLPW RLQTALEEHL
ILKELAARGK DLLLSEAQGP FSHREQIVGK DQLFQGAFLG SETRNMEFKR GSGEYLSLAF
KHHVRRYVCA FLNSEGGSLL VGVEDSGLVQ GIRCSHRDED RARLLVDSIL QGFKPQIFPD
AYTLTFIPVI STSETSVPLK VIRLTVHTPK AQSQPQLYQT DQGEVFLRRD GSIQGPLSAS
AIQEWCRQRW LVELGKLEEK MKALMMEKEQ LQQQLQQHGP VSCTCCVL*
mutated AA sequence MTPMKRSVQT QVSEPFMESW GEESLPELPA EQSLTEYSDL EEAPSAHTLY VGHLNPQFSV
PVLACLLRDT LERLEMPVAR EHIEVVRRPR KAYALVQVTV HRDTLASLPW RLQTALEEHL
ILKELAARGK DLLLSEAQGP FSHTEQIVGK DQLFQGAFLG SETRNMEFKR GSGEYLSLAF
KHHVRRYVCA FLNSEGGSLL VGVEDSGLVQ GIRCSHRDED RARLLVDSIL QGFKPQIFPD
AYTLTFIPVI STSETSVPLK VIRLTVHTPK AQSQPQLYQT DQGEVFLRRD GSIQGPLSAS
AIQEWCRQRW LVELGKLEEK MKALMMEKEQ LQQQLQQHGP VSCTCCVL*
speed 1.13 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