Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999925808 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM141638)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:55333275G>TN/A show variant in all transcripts   IGV
HGNC symbol KIR3DL1
Ensembl transcript ID ENST00000402254
Genbank transcript ID N/A
UniProt peptide P43629
alteration type single base exchange
alteration region CDS
DNA changes c.911G>T
cDNA.944G>T
g.97307G>T
AA changes W304L Score: 61 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 304
frameshift no
known variant Reference ID: rs35974949
databasehomozygous (T/T)heterozygousallele carriers
1000G325544869
ExAC3569701326

known disease mutation at this position, please check HGMD for details (HGMD ID CM141638)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0450.01
0.1340.013
(flanking)1.0580.016
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 increased97304wt: 0.9851 / mu: 0.9881 (marginal change - not scored)wt: TTTCCGTCACTCTCCCTACGAGTGGTCAGACCCGAGTGACC
mu: TTTCCGTCACTCTCCCTACGAGTTGTCAGACCCGAGTGACC		 acga|GTGG
Donor increased97311wt: 0.49 / mu: 0.71wt: TGGTCAGACCCGAGT
mu: TTGTCAGACCCGAGT		 GTCA|gacc
Acc gained973110.60mu: CACTCTCCCTACGAGTTGTCAGACCCGAGTGACCCACTGCT gtca|GACC
Donor gained973020.37mu: CCCTACGAGTTGTCA CTAC|gagt
distance from splice site 39
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      304CFGSFRHSPYEWSDPSDPLLVSVT
mutated  not conserved    304PYELSDPSDPLLVSV
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031424  305RNASHVWSSPSDPLYLPA
Ggallus  no alignment  ENSGALG00000018732  n/a
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
22340TOPO_DOMExtracellular (Potential).lost
311313STRANDmight get lost (downstream of altered splice site)
341360TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
361444TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1368 / 1368
position (AA) of stopcodon in wt / mu AA sequence 456 / 456
position of stopcodon in wt / mu cDNA 1401 / 1401
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 34 / 34
chromosome 19
strand 1
last intron/exon boundary 1192
theoretical NMD boundary in CDS 1108
length of CDS 1368
coding sequence (CDS) position 911
cDNA position
(for ins/del: last normal base / first normal base)		 944
gDNA position
(for ins/del: last normal base / first normal base)		 97307
chromosomal position
(for ins/del: last normal base / first normal base)		 55333275
original gDNA sequence snippet CCGTCACTCTCCCTACGAGTGGTCAGACCCGAGTGACCCAC
altered gDNA sequence snippet CCGTCACTCTCCCTACGAGTTGTCAGACCCGAGTGACCCAC
original cDNA sequence snippet CCGTCACTCTCCCTACGAGTGGTCAGACCCGAGTGACCCAC
altered cDNA sequence snippet CCGTCACTCTCCCTACGAGTTGTCAGACCCGAGTGACCCAC
wildtype AA sequence MSLMVVSMAC VGLFLVQRAG PHMGGQDKPF LSAWPSAVVP RGGHVTLRCH YRHRFNNFML
YKEDRIHIPI FHGRIFQESF NMSPVTTAHA GNYTCRGSHP HSPTGWSAPS NPVVIMVTGN
HRKPSLLAHP GPLVKSGERV ILQCWSDIMF EHFFLHKEGI SKDPSRLVGQ IHDGVSKANF
SIGPMMLALA GTYRCYGSVT HTPYQLSAPS DPLDIVVTGP YEKPSLSAQP GPKVQAGESV
TLSCSSRSSY DMYHLSREGG AHERRLPAVR KVNRTFQADF PLGPATHGGT YRCFGSFRHS
PYEWSDPSDP LLVSVTGNPS SSWPSPTEPS SKSGICRHLH VLIGTSVVIF LFILLLFFLL
YRWCSNKKNA AVMDQEPAGD RTVNRQDSDE QDPQEVTYAQ LDHCVFIQRK ISRPSQRPKT
PLTDTSVYTE LPNAEPRSKV VSCPRAPQSG LEGVF*
mutated AA sequence MSLMVVSMAC VGLFLVQRAG PHMGGQDKPF LSAWPSAVVP RGGHVTLRCH YRHRFNNFML
YKEDRIHIPI FHGRIFQESF NMSPVTTAHA GNYTCRGSHP HSPTGWSAPS NPVVIMVTGN
HRKPSLLAHP GPLVKSGERV ILQCWSDIMF EHFFLHKEGI SKDPSRLVGQ IHDGVSKANF
SIGPMMLALA GTYRCYGSVT HTPYQLSAPS DPLDIVVTGP YEKPSLSAQP GPKVQAGESV
TLSCSSRSSY DMYHLSREGG AHERRLPAVR KVNRTFQADF PLGPATHGGT YRCFGSFRHS
PYELSDPSDP LLVSVTGNPS SSWPSPTEPS SKSGICRHLH VLIGTSVVIF LFILLLFFLL
YRWCSNKKNA AVMDQEPAGD RTVNRQDSDE QDPQEVTYAQ LDHCVFIQRK ISRPSQRPKT
PLTDTSVYTE LPNAEPRSKV VSCPRAPQSG LEGVF*
speed 0.14 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