Yum, tasty mutations...

MutationTaster - study a chromosomal position

MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 6 transcript(s)...
Querying Taster for transcript #1: ENST00000391728
Querying Taster for transcript #2: ENST00000326542
Querying Taster for transcript #3: ENST00000358178
Querying Taster for transcript #4: ENST00000402254
Querying Taster for transcript #5: ENST00000538269
Querying Taster for transcript #6: ENST00000541392
MT speed 0 s - this script 9.305794 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
KIR3DL1polymorphism_automatic7.41919858882056e-11simple_aaeaffectedW304Lsingle base exchangers35974949show file
KIR3DL1polymorphism_automatic7.41919858882056e-11simple_aaeaffectedW304Lsingle base exchangers35974949show file
KIR3DL1polymorphism_automatic7.41919858882056e-11simple_aaeaffectedW209Lsingle base exchangers35974949show file
KIR3DL1polymorphism_automatic7.41919858882056e-11simple_aaeaffectedW304Lsingle base exchangers35974949show file
KIR3DL1polymorphism_automatic7.41919858882056e-11simple_aaeaffectedW304Lsingle base exchangers35974949show file
KIR3DL1polymorphism_automatic7.41919858882056e-11simple_aaeaffectedW304Lsingle base exchangers35974949show file

Taster files

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 ENST00000391728
Genbank transcript ID NM_013289
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 1335 / 1335
position (AA) of stopcodon in wt / mu AA sequence 445 / 445
position of stopcodon in wt / mu cDNA 1368 / 1368
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 1335
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 SKSGNPRHLH ILIGTSVVII LFILLLFFLL
HLWCSNKKNA AVMDQEPAGN RTANSEDSDE QDPEEVTYAQ LDHCVFTQRK ITRPSQRPKT
PPTDTILYTE LPNAKPRSKV VSCP*
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 SKSGNPRHLH ILIGTSVVII LFILLLFFLL
HLWCSNKKNA AVMDQEPAGN RTANSEDSDE QDPEEVTYAQ LDHCVFTQRK ITRPSQRPKT
PPTDTILYTE LPNAKPRSKV VSCP*
speed 1.64 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
back to results table
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 ENST00000326542
Genbank transcript ID N/A
UniProt peptide P43629
alteration type single base exchange
alteration region CDS
DNA changes c.911G>T
cDNA.925G>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  305RNASHVWSSPSDPLYLPAKGNCPAYTEADTK
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 1284 / 1284
position (AA) of stopcodon in wt / mu AA sequence 428 / 428
position of stopcodon in wt / mu cDNA 1298 / 1298
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 15 / 15
chromosome 19
strand 1
last intron/exon boundary 1122
theoretical NMD boundary in CDS 1057
length of CDS 1284
coding sequence (CDS) position 911
cDNA position
(for ins/del: last normal base / first normal base)
925
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 LLVSVTGNPR HLHILIGTSV VIILFILLLF FLLHLWCSNK KNAAVMDQEP
AGNRTANSED SDEQDPEEVT YAQLDHCVFT QRKITRPSQR PKTPPTDTIL YTELPNAKPR
SKVVSCP*
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 LLVSVTGNPR HLHILIGTSV VIILFILLLF FLLHLWCSNK KNAAVMDQEP
AGNRTANSED SDEQDPEEVT YAQLDHCVFT QRKITRPSQR PKTPPTDTIL YTELPNAKPR
SKVVSCP*
speed 1.66 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
back to results table
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 ENST00000358178
Genbank transcript ID N/A
UniProt peptide P43629
alteration type single base exchange
alteration region CDS
DNA changes c.626G>T
cDNA.637G>T
g.97307G>T
AA changes W209L Score: 61 explain score(s)
position(s) of altered AA
if AA alteration in CDS
209
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      209CFGSFRHSPYEWSDPSDPLLVSVT
mutated  not conserved    209CFGSFRHSPYELSDPSDPLLVSV
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031424  305SFRNASHVWSSPSDPLYLPA
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
213218STRANDmight get lost (downstream of altered splice site)
225230STRANDmight get lost (downstream of altered splice site)
237300DOMAINIg-like C2-type 3.might get lost (downstream of altered splice site)
241248STRANDmight get lost (downstream of altered splice site)
244244DISULFIDBy similarity.might get lost (downstream of altered splice site)
251257STRANDmight get lost (downstream of altered splice site)
264267STRANDmight get lost (downstream of altered splice site)
273273CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
276281STRANDmight get lost (downstream of altered splice site)
289297STRANDmight get lost (downstream of altered splice site)
293293DISULFIDBy similarity.might get lost (downstream of altered splice site)
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 1050 / 1050
position (AA) of stopcodon in wt / mu AA sequence 350 / 350
position of stopcodon in wt / mu cDNA 1061 / 1061
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 12 / 12
chromosome 19
strand 1
last intron/exon boundary 885
theoretical NMD boundary in CDS 823
length of CDS 1050
coding sequence (CDS) position 626
cDNA position
(for ins/del: last normal base / first normal base)
637
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 PHMGNHRKPS LLAHPGPLVK SGERVILQCW SDIMFEHFFL
HKEGISKDPS RLVGQIHDGV SKANFSIGPM MLALAGTYRC YGSVTHTPYQ LSAPSDPLDI
VVTGPYEKPS LSAQPGPKVQ AGESVTLSCS SRSSYDMYHL SREGGAHERR LPAVRKVNRT
FQADFPLGPA THGGTYRCFG SFRHSPYEWS DPSDPLLVSV TGNPSSSWPS PTEPSSKSGN
PRHLHILIGT SVVIILFILL LFFLLHLWCS NKKNAAVMDQ EPAGNRTANS EDSDEQDPEE
VTYAQLDHCV FTQRKITRPS QRPKTPPTDT ILYTELPNAK PRSKVVSCP*
mutated AA sequence MSLMVVSMAC VGLFLVQRAG PHMGNHRKPS LLAHPGPLVK SGERVILQCW SDIMFEHFFL
HKEGISKDPS RLVGQIHDGV SKANFSIGPM MLALAGTYRC YGSVTHTPYQ LSAPSDPLDI
VVTGPYEKPS LSAQPGPKVQ AGESVTLSCS SRSSYDMYHL SREGGAHERR LPAVRKVNRT
FQADFPLGPA THGGTYRCFG SFRHSPYELS DPSDPLLVSV TGNPSSSWPS PTEPSSKSGN
PRHLHILIGT SVVIILFILL LFFLLHLWCS NKKNAAVMDQ EPAGNRTANS EDSDEQDPEE
VTYAQLDHCV FTQRKITRPS QRPKTPPTDT ILYTELPNAK PRSKVVSCP*
speed 1.48 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
back to results table
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 ENST00000538269
Genbank transcript ID N/A
UniProt peptide P43629
alteration type single base exchange
alteration region CDS
DNA changes c.911G>T
cDNA.938G>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 1335 / 1335
position (AA) of stopcodon in wt / mu AA sequence 445 / 445
position of stopcodon in wt / mu cDNA 1362 / 1362
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 28 / 28
chromosome 19
strand 1
last intron/exon boundary 1186
theoretical NMD boundary in CDS 1108
length of CDS 1335
coding sequence (CDS) position 911
cDNA position
(for ins/del: last normal base / first normal base)
938
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 SKSGNPRHLH ILIGTSVVII LFILLLFFLL
HLWCSNKKNA AVMDQEPAGN RTANSEDSDE QDPEEVTYAQ LDHCVFTQRK ITRPSQRPKT
PPTDTILYTE LPNAKPRSKV VSCP*
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 SKSGNPRHLH ILIGTSVVII LFILLLFFLL
HLWCSNKKNA AVMDQEPAGN RTANSEDSDE QDPEEVTYAQ LDHCVFTQRK ITRPSQRPKT
PPTDTILYTE LPNAKPRSKV VSCP*
speed 1.57 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
back to results table
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 1.71 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
back to results table
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 ENST00000541392
Genbank transcript ID NM_001242867
UniProt peptide P43629
alteration type single base exchange
alteration region CDS
DNA changes c.911G>T
cDNA.935G>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  305RNASHVWSSPSDPLYLPAKGNCPAYTEADTK
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 1284 / 1284
position (AA) of stopcodon in wt / mu AA sequence 428 / 428
position of stopcodon in wt / mu cDNA 1308 / 1308
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 25 / 25
chromosome 19
strand 1
last intron/exon boundary 1132
theoretical NMD boundary in CDS 1057
length of CDS 1284
coding sequence (CDS) position 911
cDNA position
(for ins/del: last normal base / first normal base)
935
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 LLVSVTGNPR HLHILIGTSV VIILFILLLF FLLHLWCSNK KNAAVMDQEP
AGNRTANSED SDEQDPEEVT YAQLDHCVFT QRKITRPSQR PKTPPTDTIL YTELPNAKPR
SKVVSCP*
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 LLVSVTGNPR HLHILIGTSV VIILFILLLF FLLHLWCSNK KNAAVMDQEP
AGNRTANSED SDEQDPEEVT YAQLDHCVFT QRKITRPSQR PKTPPTDTIL YTELPNAKPR
SKVVSCP*
speed 1.48 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
back to results table

Problems