Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999996833 (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) chr17:33768354C>TN/A show variant in all transcripts   IGV
HGNC symbol SLFN13
Ensembl transcript ID ENST00000534689
Genbank transcript ID N/A
UniProt peptide Q68D06
alteration type single base exchange
alteration region CDS
DNA changes c.1000G>A
cDNA.1203G>A
g.7503G>A
AA changes E334K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 334
frameshift no
known variant Reference ID: rs3744371
databasehomozygous (T/T)heterozygousallele carriers
1000G110710362143
ExAC19269-577113498
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.7750.068
-0.1440.09
(flanking)0.8780.094
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased7501wt: 0.85 / mu: 0.94wt: GACCCGGGAAACTTT
mu: GACCCGGAAAACTTT		 CCCG|ggaa
Donor marginally increased7500wt: 0.9544 / mu: 0.9556 (marginal change - not scored)wt: AGACCCGGGAAACTT
mu: AGACCCGGAAAACTT		 ACCC|ggga
distance from splice site 32
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      334SDRNICRAETRETFLREKFEHIQH
mutated  all conserved    334SDRNICRAETRKTFLREKFEHIQ
Ptroglodytes  all conserved  ENSPTRG00000042109  652SDRNICRAETRKTFLRENFEHIQ
Mmulatta  all conserved  ENSMMUG00000005551  652SDKKICQAETRKTFMREYFDHIQ
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000072621  589QAKNICQAVTRETFMKDYFETNRIQ
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 
599606NP_BINDATP (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1740 / 1740
position (AA) of stopcodon in wt / mu AA sequence 580 / 580
position of stopcodon in wt / mu cDNA 1943 / 1943
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 204 / 204
chromosome 17
strand -1
last intron/exon boundary 1172
theoretical NMD boundary in CDS 918
length of CDS 1740
coding sequence (CDS) position 1000
cDNA position
(for ins/del: last normal base / first normal base)		 1203
gDNA position
(for ins/del: last normal base / first normal base)		 7503
chromosomal position
(for ins/del: last normal base / first normal base)		 33768354
original gDNA sequence snippet TCTGCCGAGCAGAGACCCGGGAAACTTTCCTAAGAGAAAAA
altered gDNA sequence snippet TCTGCCGAGCAGAGACCCGGAAAACTTTCCTAAGAGAAAAA
original cDNA sequence snippet TCTGCCGAGCAGAGACCCGGGAAACTTTCCTAAGAGAAAAA
altered cDNA sequence snippet TCTGCCGAGCAGAGACCCGGAAAACTTTCCTAAGAGAAAAA
wildtype AA sequence MEANHCSLAP KSWMVREKYI RPLTTEEWVE KMMDADPEFP PDFAEAFESQ LSLSDSPSLC
RPVYSKKGLE HKADLQQHLF PVPPGHLECT PESLWKELSL QHEGLKELIH KQMRPFSQGI
VILSRSWAVD LNLQEKPGVI CDALLIAQNS TPILYTILRE QDAEGQDYCT RTAFTLKQKL
VNMGGYTGKV CVRAKVLCLS PESSAEALEA AVSPMDYPAS YSLAGTQHME ALLQSLVIVL
LGFRSLLSDQ LGCEVLNLLT AQQYEIFSRS LRKNRELFVH GLPGSGKTIM AMKIMEKIRN
VFHCEAHRIL YVCENQPLRN FISDRNICRA ETRETFLREK FEHIQHIVID EAQNFRTEDG
DWYRKAKTIT QREKDCPGVL WIFLDYFQTS HLGHSGLPPL SAQYPREELT RVVRNADEIA
EYIQQEMQLI IENPPINIPH GYLAILSEAK WVPGVPGNTK IIKNFTLEQI VTYVADTCRC
FFERGYSPKD VAVLVSTVTE VEQYQSKLLK AMRKKMVVQL SDACDMLGVH IVLDSVRRFS
GLERSIVFGI HPRTADPAIL PNILICLASR AKQHLYIFL*
mutated AA sequence MEANHCSLAP KSWMVREKYI RPLTTEEWVE KMMDADPEFP PDFAEAFESQ LSLSDSPSLC
RPVYSKKGLE HKADLQQHLF PVPPGHLECT PESLWKELSL QHEGLKELIH KQMRPFSQGI
VILSRSWAVD LNLQEKPGVI CDALLIAQNS TPILYTILRE QDAEGQDYCT RTAFTLKQKL
VNMGGYTGKV CVRAKVLCLS PESSAEALEA AVSPMDYPAS YSLAGTQHME ALLQSLVIVL
LGFRSLLSDQ LGCEVLNLLT AQQYEIFSRS LRKNRELFVH GLPGSGKTIM AMKIMEKIRN
VFHCEAHRIL YVCENQPLRN FISDRNICRA ETRKTFLREK FEHIQHIVID EAQNFRTEDG
DWYRKAKTIT QREKDCPGVL WIFLDYFQTS HLGHSGLPPL SAQYPREELT RVVRNADEIA
EYIQQEMQLI IENPPINIPH GYLAILSEAK WVPGVPGNTK IIKNFTLEQI VTYVADTCRC
FFERGYSPKD VAVLVSTVTE VEQYQSKLLK AMRKKMVVQL SDACDMLGVH IVLDSVRRFS
GLERSIVFGI HPRTADPAIL PNILICLASR AKQHLYIFL*
speed 0.74 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