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
  • 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 ENST00000542635
Genbank transcript ID N/A
UniProt peptide Q68D06
alteration type single base exchange
alteration region CDS
DNA changes c.1954G>A
cDNA.2131G>A
g.7503G>A
AA changes E652K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 652
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      652SDRNICRAETRETFLREKFEHIQH
mutated  all conserved    652SDRNICRAETRKTFLREKFE
Ptroglodytes  all conserved  ENSPTRG00000042109  652SDRNICRAETRKTFLRENFE
Mmulatta  all conserved  ENSMMUG00000005551  652SDKKICQAETRKTFMREYFD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000072621  589QAKNICQAVTRETFMKDY
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2694 / 2694
position (AA) of stopcodon in wt / mu AA sequence 898 / 898
position of stopcodon in wt / mu cDNA 2871 / 2871
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 178 / 178
chromosome 17
strand -1
last intron/exon boundary 2100
theoretical NMD boundary in CDS 1872
length of CDS 2694
coding sequence (CDS) position 1954
cDNA position
(for ins/del: last normal base / first normal base)		 2131
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 MEANHCSLGV YPSYPDLVID VGEVTLGEEN RKKLQKTQRD QERARVIRAA CALLNSGGGV
IQMEMANRDE RPTEMGLDLE ESLRKLIQYP YLQAFFETKQ HGRCFYIFVK SWSGDPFLKD
GSFNSRICSL SSSLYCRSGT SVLHMNSRQA FDFLKTKERQ SKYNLINEGS PPSKIMKAVY
QNISESNPAY EVFQTDTIEY GEILSFPESP SIEFKQFSTK HIQQYVENII PEYISAFANT
EGGYLFIGVD DKSRKVLGCA KEQVDPDSLK NVIARAISKL PIVHFCSSKP RVEYSTKIVE
VFCGKELYGY LCVIKVKAFC CVVFSEAPKS WMVREKYIRP LTTEEWVEKM MDADPEFPPD
FAEAFESQLS LSDSPSLCRP VYSKKGLEHK ADLQQHLFPV PPGHLECTPE SLWKELSLQH
EGLKELIHKQ MRPFSQGIVI LSRSWAVDLN LQEKPGVICD ALLIAQNSTP ILYTILREQD
AEGQDYCTRT AFTLKQKLVN MGGYTGKVCV RAKVLCLSPE SSAEALEAAV SPMDYPASYS
LAGTQHMEAL LQSLVIVLLG FRSLLSDQLG CEVLNLLTAQ QYEIFSRSLR KNRELFVHGL
PGSGKTIMAM KIMEKIRNVF HCEAHRILYV CENQPLRNFI SDRNICRAET RETFLREKFE
HIQHIVIDEA QNFRTEDGDW YRKAKTITQR EKDCPGVLWI FLDYFQTSHL GHSGLPPLSA
QYPREELTRV VRNADEIAEY IQQEMQLIIE NPPINIPHGY LAILSEAKWV PGVPGNTKII
KNFTLEQIVT YVADTCRCFF ERGYSPKDVA VLVSTVTEVE QYQSKLLKAM RKKMVVQLSD
ACDMLGVHIV LDSVRRFSGL ERSIVFGIHP RTADPAILPN ILICLASRAK QHLYIFL*
mutated AA sequence MEANHCSLGV YPSYPDLVID VGEVTLGEEN RKKLQKTQRD QERARVIRAA CALLNSGGGV
IQMEMANRDE RPTEMGLDLE ESLRKLIQYP YLQAFFETKQ HGRCFYIFVK SWSGDPFLKD
GSFNSRICSL SSSLYCRSGT SVLHMNSRQA FDFLKTKERQ SKYNLINEGS PPSKIMKAVY
QNISESNPAY EVFQTDTIEY GEILSFPESP SIEFKQFSTK HIQQYVENII PEYISAFANT
EGGYLFIGVD DKSRKVLGCA KEQVDPDSLK NVIARAISKL PIVHFCSSKP RVEYSTKIVE
VFCGKELYGY LCVIKVKAFC CVVFSEAPKS WMVREKYIRP LTTEEWVEKM MDADPEFPPD
FAEAFESQLS LSDSPSLCRP VYSKKGLEHK ADLQQHLFPV PPGHLECTPE SLWKELSLQH
EGLKELIHKQ MRPFSQGIVI LSRSWAVDLN LQEKPGVICD ALLIAQNSTP ILYTILREQD
AEGQDYCTRT AFTLKQKLVN MGGYTGKVCV RAKVLCLSPE SSAEALEAAV SPMDYPASYS
LAGTQHMEAL LQSLVIVLLG FRSLLSDQLG CEVLNLLTAQ QYEIFSRSLR KNRELFVHGL
PGSGKTIMAM KIMEKIRNVF HCEAHRILYV CENQPLRNFI SDRNICRAET RKTFLREKFE
HIQHIVIDEA QNFRTEDGDW YRKAKTITQR EKDCPGVLWI FLDYFQTSHL GHSGLPPLSA
QYPREELTRV VRNADEIAEY IQQEMQLIIE NPPINIPHGY LAILSEAKWV PGVPGNTKII
KNFTLEQIVT YVADTCRCFF ERGYSPKDVA VLVSTVTEVE QYQSKLLKAM RKKMVVQLSD
ACDMLGVHIV LDSVRRFSGL ERSIVFGIHP RTADPAILPN ILICLASRAK QHLYIFL*
speed 0.99 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