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 10 transcript(s)...
Querying Taster for transcript #1: ENST00000402254
Querying Taster for transcript #2: ENST00000538269
Querying Taster for transcript #3: ENST00000541392
Querying Taster for transcript #4: ENST00000359085
Querying Taster for transcript #5: ENST00000345540
Querying Taster for transcript #6: ENST00000357494
Querying Taster for transcript #7: ENST00000396293
Querying Taster for transcript #8: ENST00000346587
Querying Taster for transcript #9: ENST00000396289
Querying Taster for transcript #10: ENST00000396284
MT speed 0 s - this script 7.513862 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
KIR2DL4polymorphism_automatic6.89448498292222e-14simple_aaeaffectedP209Asingle base exchangers1051456show file
KIR2DL4polymorphism_automatic6.89448498292222e-14simple_aaeaffectedP209Asingle base exchangers1051456show file
KIR2DL4polymorphism_automatic6.89448498292222e-14simple_aaeaffectedP209Asingle base exchangers1051456show file
KIR2DL4polymorphism_automatic6.89448498292222e-14simple_aaeaffectedP207Asingle base exchangers1051456show file
KIR2DL4polymorphism_automatic6.89448498292222e-14simple_aaeaffectedP207Asingle base exchangers1051456show file
KIR2DL4polymorphism_automatic1.90503168795431e-12simple_aaeaffectedP114Asingle base exchangers1051456show file
KIR2DL4polymorphism_automatic1.90503168795431e-12simple_aaeaffectedP114Asingle base exchangers1051456show file
KIR3DL1polymorphism_automatic2.06927123991285e-07without_aaeaffectedsingle base exchangers1051456show file
KIR3DL1polymorphism_automatic2.06927123991285e-07without_aaeaffectedsingle base exchangers1051456show file
KIR3DL1polymorphism_automatic2.06927123991285e-07without_aaeaffectedsingle base exchangers1051456show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999931 (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) chr19:55317669C>GN/A show variant in all transcripts   IGV
HGNC symbol KIR2DL4
Ensembl transcript ID ENST00000359085
Genbank transcript ID NM_001080772
UniProt peptide Q99706
alteration type single base exchange
alteration region CDS
DNA changes c.625C>G
cDNA.666C>G
g.81668C>G
AA changes P209A Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 209
frameshift no
known variant Reference ID: rs1051456
databasehomozygous (G/G)heterozygousallele carriers
1000G10136511664
ExAC4170111
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6480
-0.4130.002
(flanking)0.8670.011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased81664wt: 0.49 / mu: 0.87wt: TGGTCAGACCCGAGT
mu: TGGTCAGACGCGAGT		 GTCA|gacc
Donor marginally increased81666wt: 0.9720 / mu: 0.9731 (marginal change - not scored)wt: GTCAGACCCGAGTGA
mu: GTCAGACGCGAGTGA		 CAGA|cccg
distance from splice site 31
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      209SFHGSPYEWSDPSDPLPVSVTGNP
mutated  not conserved    209SFHGSPYEWSDASDPLPVSVTGN
Ptroglodytes  not conserved  ENSPTRG00000011472  209SFHESPYEWSNSSDPLLVSVTGN
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000031424  207ANSYYPYEWSDSSDPIDIKITG
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 
22242TOPO_DOMExtracellular (Potential).lost
229229CONFLICTT -> P (in Ref. 7; AAD24763).might get lost (downstream of altered splice site)
243263TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
264377TOPO_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 822 / 822
position (AA) of stopcodon in wt / mu AA sequence 274 / 274
position of stopcodon in wt / mu cDNA 863 / 863
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 42 / 42
chromosome 19
strand 1
last intron/exon boundary 905
theoretical NMD boundary in CDS 813
length of CDS 822
coding sequence (CDS) position 625
cDNA position
(for ins/del: last normal base / first normal base)		 666
gDNA position
(for ins/del: last normal base / first normal base)		 81668
chromosomal position
(for ins/del: last normal base / first normal base)		 55317669
original gDNA sequence snippet CTCCCTACGAGTGGTCAGACCCGAGTGACCCACTGCCTGTT
altered gDNA sequence snippet CTCCCTACGAGTGGTCAGACGCGAGTGACCCACTGCCTGTT
original cDNA sequence snippet CTCCCTACGAGTGGTCAGACCCGAGTGACCCACTGCCTGTT
altered cDNA sequence snippet CTCCCTACGAGTGGTCAGACGCGAGTGACCCACTGCCTGTT
wildtype AA sequence MSMSPTVIIL ACLGFFLDQS VWAHVGGQDK PFCSAWPSAV VPQGGHVTLR CHYRRGFNIF
TLYKKDGVPV PELYNRIFWN SFLISPVTPA HAGTYRCRGF HPHSPTEWSA PSNPLVIMVT
GLYEKPSLTA RPGPTVRAGE NVTLSCSSQS SFDIYHLSRE GEAHELRLPA VPSINGTFQA
DFPLGPATHG ETYRCFGSFH GSPYEWSDPS DPLPVSVTGN PSSSWPSPTE PSFKTGIARH
LHAVIRYSVA IILFTILPFF LLHRWCSKKK MLL*
mutated AA sequence MSMSPTVIIL ACLGFFLDQS VWAHVGGQDK PFCSAWPSAV VPQGGHVTLR CHYRRGFNIF
TLYKKDGVPV PELYNRIFWN SFLISPVTPA HAGTYRCRGF HPHSPTEWSA PSNPLVIMVT
GLYEKPSLTA RPGPTVRAGE NVTLSCSSQS SFDIYHLSRE GEAHELRLPA VPSINGTFQA
DFPLGPATHG ETYRCFGSFH GSPYEWSDAS DPLPVSVTGN PSSSWPSPTE PSFKTGIARH
LHAVIRYSVA IILFTILPFF LLHRWCSKKK MLL*
speed 1.16 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: 0.999999999999931 (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) chr19:55317669C>GN/A show variant in all transcripts   IGV
HGNC symbol KIR2DL4
Ensembl transcript ID ENST00000345540
Genbank transcript ID NM_001080770
UniProt peptide Q99706
alteration type single base exchange
alteration region CDS
DNA changes c.625C>G
cDNA.637C>G
g.81668C>G
AA changes P209A Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 209
frameshift no
known variant Reference ID: rs1051456
databasehomozygous (G/G)heterozygousallele carriers
1000G10136511664
ExAC4170111
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6480
-0.4130.002
(flanking)0.8670.011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased81664wt: 0.49 / mu: 0.87wt: TGGTCAGACCCGAGT
mu: TGGTCAGACGCGAGT		 GTCA|gacc
Donor marginally increased81666wt: 0.9720 / mu: 0.9731 (marginal change - not scored)wt: GTCAGACCCGAGTGA
mu: GTCAGACGCGAGTGA		 CAGA|cccg
distance from splice site 31
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      209SFHGSPYEWSDPSDPLPVSVTGNP
mutated  not conserved    209SFHGSPYEWSDASDPLPVSVTGN
Ptroglodytes  not conserved  ENSPTRG00000011472  209SFHESPYEWSNSSDPLLVSVTGN
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000031424  207ANSYYPYEWSDSSDPIDIKITG
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 
22242TOPO_DOMExtracellular (Potential).lost
229229CONFLICTT -> P (in Ref. 7; AAD24763).might get lost (downstream of altered splice site)
243263TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
264377TOPO_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 1029 / 1029
position (AA) of stopcodon in wt / mu AA sequence 343 / 343
position of stopcodon in wt / mu cDNA 1041 / 1041
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 13 / 13
chromosome 19
strand 1
last intron/exon boundary 772
theoretical NMD boundary in CDS 709
length of CDS 1029
coding sequence (CDS) position 625
cDNA position
(for ins/del: last normal base / first normal base)		 637
gDNA position
(for ins/del: last normal base / first normal base)		 81668
chromosomal position
(for ins/del: last normal base / first normal base)		 55317669
original gDNA sequence snippet CTCCCTACGAGTGGTCAGACCCGAGTGACCCACTGCCTGTT
altered gDNA sequence snippet CTCCCTACGAGTGGTCAGACGCGAGTGACCCACTGCCTGTT
original cDNA sequence snippet CTCCCTACGAGTGGTCAGACCCGAGTGACCCACTGCCTGTT
altered cDNA sequence snippet CTCCCTACGAGTGGTCAGACGCGAGTGACCCACTGCCTGTT
wildtype AA sequence MSMSPTVIIL ACLGFFLDQS VWAHVGGQDK PFCSAWPSAV VPQGGHVTLR CHYRRGFNIF
TLYKKDGVPV PELYNRIFWN SFLISPVTPA HAGTYRCRGF HPHSPTEWSA PSNPLVIMVT
GLYEKPSLTA RPGPTVRAGE NVTLSCSSQS SFDIYHLSRE GEAHELRLPA VPSINGTFQA
DFPLGPATHG ETYRCFGSFH GSPYEWSDPS DPLPVSVTGN PSSSWPSPTE PSFKTDAAVM
NQEPAGHRTV NREDSDEQDP QEVTYAQLDH CIFTQRKITG PSQRSKRPST DTSVCIELPN
AEPRALSPAH EHHSQALMGS SRETTALSQT QLASSNVPAA GI*
mutated AA sequence MSMSPTVIIL ACLGFFLDQS VWAHVGGQDK PFCSAWPSAV VPQGGHVTLR CHYRRGFNIF
TLYKKDGVPV PELYNRIFWN SFLISPVTPA HAGTYRCRGF HPHSPTEWSA PSNPLVIMVT
GLYEKPSLTA RPGPTVRAGE NVTLSCSSQS SFDIYHLSRE GEAHELRLPA VPSINGTFQA
DFPLGPATHG ETYRCFGSFH GSPYEWSDAS DPLPVSVTGN PSSSWPSPTE PSFKTDAAVM
NQEPAGHRTV NREDSDEQDP QEVTYAQLDH CIFTQRKITG PSQRSKRPST DTSVCIELPN
AEPRALSPAH EHHSQALMGS SRETTALSQT QLASSNVPAA GI*
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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999931 (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) chr19:55317669C>GN/A show variant in all transcripts   IGV
HGNC symbol KIR2DL4
Ensembl transcript ID ENST00000357494
Genbank transcript ID N/A
UniProt peptide Q99706
alteration type single base exchange
alteration region CDS
DNA changes c.625C>G
cDNA.637C>G
g.81668C>G
AA changes P209A Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 209
frameshift no
known variant Reference ID: rs1051456
databasehomozygous (G/G)heterozygousallele carriers
1000G10136511664
ExAC4170111
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6480
-0.4130.002
(flanking)0.8670.011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased81664wt: 0.49 / mu: 0.87wt: TGGTCAGACCCGAGT
mu: TGGTCAGACGCGAGT		 GTCA|gacc
Donor marginally increased81666wt: 0.9720 / mu: 0.9731 (marginal change - not scored)wt: GTCAGACCCGAGTGA
mu: GTCAGACGCGAGTGA		 CAGA|cccg
distance from splice site 31
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      209SFHGSPYEWSDPSDPLPVSVTDAA
mutated  not conserved    209SFHGSPYEWSDASDPLPVSVTDA
Ptroglodytes  not conserved  ENSPTRG00000011472  209SFHESPYEWSNSSDPLLVSVTGNPSSSWPSPTEPSFKTGIARH
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000031424  207ANSYYPYEWSDSSDPIDIKIT
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 
22242TOPO_DOMExtracellular (Potential).lost
229229CONFLICTT -> P (in Ref. 7; AAD24763).might get lost (downstream of altered splice site)
243263TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
264377TOPO_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 978 / 978
position (AA) of stopcodon in wt / mu AA sequence 326 / 326
position of stopcodon in wt / mu cDNA 990 / 990
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 13 / 13
chromosome 19
strand 1
last intron/exon boundary 721
theoretical NMD boundary in CDS 658
length of CDS 978
coding sequence (CDS) position 625
cDNA position
(for ins/del: last normal base / first normal base)		 637
gDNA position
(for ins/del: last normal base / first normal base)		 81668
chromosomal position
(for ins/del: last normal base / first normal base)		 55317669
original gDNA sequence snippet CTCCCTACGAGTGGTCAGACCCGAGTGACCCACTGCCTGTT
altered gDNA sequence snippet CTCCCTACGAGTGGTCAGACGCGAGTGACCCACTGCCTGTT
original cDNA sequence snippet CTCCCTACGAGTGGTCAGACCCGAGTGACCCACTGCCTGTT
altered cDNA sequence snippet CTCCCTACGAGTGGTCAGACGCGAGTGACCCACTGCCTGTT
wildtype AA sequence MSMSPTVIIL ACLGFFLDQS VWAHVGGQDK PFCSAWPSAV VPQGGHVTLR CHYRRGFNIF
TLYKKDGVPV PELYNRIFWN SFLISPVTPA HAGTYRCRGF HPHSPTEWSA PSNPLVIMVT
GLYEKPSLTA RPGPTVRAGE NVTLSCSSQS SFDIYHLSRE GEAHELRLPA VPSINGTFQA
DFPLGPATHG ETYRCFGSFH GSPYEWSDPS DPLPVSVTDA AVMNQEPAGH RTVNREDSDE
QDPQEVTYAQ LDHCIFTQRK ITGPSQRSKR PSTDTSVCIE LPNAEPRALS PAHEHHSQAL
MGSSRETTAL SQTQLASSNV PAAGI*
mutated AA sequence MSMSPTVIIL ACLGFFLDQS VWAHVGGQDK PFCSAWPSAV VPQGGHVTLR CHYRRGFNIF
TLYKKDGVPV PELYNRIFWN SFLISPVTPA HAGTYRCRGF HPHSPTEWSA PSNPLVIMVT
GLYEKPSLTA RPGPTVRAGE NVTLSCSSQS SFDIYHLSRE GEAHELRLPA VPSINGTFQA
DFPLGPATHG ETYRCFGSFH GSPYEWSDAS DPLPVSVTDA AVMNQEPAGH RTVNREDSDE
QDPQEVTYAQ LDHCIFTQRK ITGPSQRSKR PSTDTSVCIE LPNAEPRALS PAHEHHSQAL
MGSSRETTAL SQTQLASSNV PAAGI*
speed 0.95 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: 0.999999999999931 (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) chr19:55317669C>GN/A show variant in all transcripts   IGV
HGNC symbol KIR2DL4
Ensembl transcript ID ENST00000396289
Genbank transcript ID N/A
UniProt peptide Q99706
alteration type single base exchange
alteration region CDS
DNA changes c.619C>G
cDNA.619C>G
g.81668C>G
AA changes P207A Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 207
frameshift no
known variant Reference ID: rs1051456
databasehomozygous (G/G)heterozygousallele carriers
1000G10136511664
ExAC4170111
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6480
-0.4130.002
(flanking)0.8670.011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased81664wt: 0.49 / mu: 0.87wt: TGGTCAGACCCGAGT
mu: TGGTCAGACGCGAGT		 GTCA|gacc
Donor marginally increased81666wt: 0.9720 / mu: 0.9731 (marginal change - not scored)wt: GTCAGACCCGAGTGA
mu: GTCAGACGCGAGTGA		 CAGA|cccg
distance from splice site 31
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      207SFHGSPYEWSDPSDPLPVSVTGNP
mutated  not conserved    207SFHGSPYEWSDASDPLPVSVTGN
Ptroglodytes  not conserved  ENSPTRG00000011472  209SFHESPYEWSNSSDPLLVSVTGN
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000031424  207ANSYYPYEWSDSSDPIDIKITG
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 
22242TOPO_DOMExtracellular (Potential).lost
229229CONFLICTT -> P (in Ref. 7; AAD24763).might get lost (downstream of altered splice site)
243263TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
264377TOPO_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 1194 / 1194
position (AA) of stopcodon in wt / mu AA sequence 398 / 398
position of stopcodon in wt / mu cDNA 1194 / 1194
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 1 / 1
chromosome 19
strand 1
last intron/exon boundary 925
theoretical NMD boundary in CDS 874
length of CDS 1194
coding sequence (CDS) position 619
cDNA position
(for ins/del: last normal base / first normal base)		 619
gDNA position
(for ins/del: last normal base / first normal base)		 81668
chromosomal position
(for ins/del: last normal base / first normal base)		 55317669
original gDNA sequence snippet CTCCCTACGAGTGGTCAGACCCGAGTGACCCACTGCCTGTT
altered gDNA sequence snippet CTCCCTACGAGTGGTCAGACGCGAGTGACCCACTGCCTGTT
original cDNA sequence snippet CTCCCTACGAGTGGTCAGACCCGAGTGACCCACTGCCTGTT
altered cDNA sequence snippet CTCCCTACGAGTGGTCAGACGCGAGTGACCCACTGCCTGTT
wildtype AA sequence MSPTVIILAC LGFFLDQSVW AHVGGQDKPF CSAWPSAVVP QGGHVTLRCH YRRGFNIFTL
YKKDGVPVPE LYNRIFWNSF LISPVTPAHA GTYRCRGFHP HSPTEWSAPS NPLVIMVTGL
YEKPSLTARP GPTVRAGENV TLSCSSQSSF DIYHLSREGE AHELRLPAVP SINGTFQADF
PLGPATHGET YRCFGSFHGS PYEWSDPSDP LPVSVTGNPS SSWPSPTEPS FKTGIARHLH
AVIRYSVAII LFTILPFFLL HRWCSKKKVS LTKQRPENSG PCAEAGWEHA DAAVMNQEPA
GHRTVNREDS DEQDPQEVTY AQLDHCIFTQ RKITGPSQRS KRPSTDTSVC IELPNAEPRA
LSPAHEHHSQ ALMGSSRETT ALSQTQLASS NVPAAGI*
mutated AA sequence MSPTVIILAC LGFFLDQSVW AHVGGQDKPF CSAWPSAVVP QGGHVTLRCH YRRGFNIFTL
YKKDGVPVPE LYNRIFWNSF LISPVTPAHA GTYRCRGFHP HSPTEWSAPS NPLVIMVTGL
YEKPSLTARP GPTVRAGENV TLSCSSQSSF DIYHLSREGE AHELRLPAVP SINGTFQADF
PLGPATHGET YRCFGSFHGS PYEWSDASDP LPVSVTGNPS SSWPSPTEPS FKTGIARHLH
AVIRYSVAII LFTILPFFLL HRWCSKKKVS LTKQRPENSG PCAEAGWEHA DAAVMNQEPA
GHRTVNREDS DEQDPQEVTY AQLDHCIFTQ RKITGPSQRS KRPSTDTSVC IELPNAEPRA
LSPAHEHHSQ ALMGSSRETT ALSQTQLASS NVPAAGI*
speed 0.69 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: 0.999999999999931 (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) chr19:55317669C>GN/A show variant in all transcripts   IGV
HGNC symbol KIR2DL4
Ensembl transcript ID ENST00000396284
Genbank transcript ID N/A
UniProt peptide Q99706
alteration type single base exchange
alteration region CDS
DNA changes c.619C>G
cDNA.619C>G
g.81668C>G
AA changes P207A Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 207
frameshift no
known variant Reference ID: rs1051456
databasehomozygous (G/G)heterozygousallele carriers
1000G10136511664
ExAC4170111
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6480
-0.4130.002
(flanking)0.8670.011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased81664wt: 0.49 / mu: 0.87wt: TGGTCAGACCCGAGT
mu: TGGTCAGACGCGAGT		 GTCA|gacc
Donor marginally increased81666wt: 0.9720 / mu: 0.9731 (marginal change - not scored)wt: GTCAGACCCGAGTGA
mu: GTCAGACGCGAGTGA		 CAGA|cccg
distance from splice site 31
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      207SFHGSPYEWSDPSDPLPVSVTGNP
mutated  not conserved    207SFHGSPYEWSDASDPLPVSVTGN
Ptroglodytes  not conserved  ENSPTRG00000011472  209SFHESPYEWSNSSDPLLVSVTGN
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000031424  207ANSYYPYEWSDSSDPIDIKITG
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 
22242TOPO_DOMExtracellular (Potential).lost
229229CONFLICTT -> P (in Ref. 7; AAD24763).might get lost (downstream of altered splice site)
243263TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
264377TOPO_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 1194 / 1194
position (AA) of stopcodon in wt / mu AA sequence 398 / 398
position of stopcodon in wt / mu cDNA 1194 / 1194
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 1 / 1
chromosome 19
strand 1
last intron/exon boundary 925
theoretical NMD boundary in CDS 874
length of CDS 1194
coding sequence (CDS) position 619
cDNA position
(for ins/del: last normal base / first normal base)		 619
gDNA position
(for ins/del: last normal base / first normal base)		 81668
chromosomal position
(for ins/del: last normal base / first normal base)		 55317669
original gDNA sequence snippet CTCCCTACGAGTGGTCAGACCCGAGTGACCCACTGCCTGTT
altered gDNA sequence snippet CTCCCTACGAGTGGTCAGACGCGAGTGACCCACTGCCTGTT
original cDNA sequence snippet CTCCCTACGAGTGGTCAGACCCGAGTGACCCACTGCCTGTT
altered cDNA sequence snippet CTCCCTACGAGTGGTCAGACGCGAGTGACCCACTGCCTGTT
wildtype AA sequence MSLMVVSMAC VGFFLDQSVW AHVGGQDKPF CSAWPSAVVP QGGHVTLRCH YRRGFNIFTL
YKKDGVPVPE LYNRIFWNSF LISPVTPAHA GTYRCRGFHP HSPTEWSAPS NPLVIMVTGL
YEKPSLTARP GPTVRAGENV TLSCSSQSSF DIYHLSREGE AHELRLPAVP SINGTFQADF
PLGPATHGET YRCFGSFHGS PYEWSDPSDP LPVSVTGNPS SSWPSPTEPS FKTGIARHLH
AVIRYSVAII LFTILPFFLL HRWCSKKKVS LTKQRPENSG PCAEAGWEHA DAAVMNQEPA
GHRTVNREDS DEQDPQEVTY AQLDHCIFTQ RKITGPSQRS KRPSTDTSVC IELPNAEPRA
LSPAHEHHSQ ALMGSSRETT ALSQTQLASS NVPAAGI*
mutated AA sequence MSLMVVSMAC VGFFLDQSVW AHVGGQDKPF CSAWPSAVVP QGGHVTLRCH YRRGFNIFTL
YKKDGVPVPE LYNRIFWNSF LISPVTPAHA GTYRCRGFHP HSPTEWSAPS NPLVIMVTGL
YEKPSLTARP GPTVRAGENV TLSCSSQSSF DIYHLSREGE AHELRLPAVP SINGTFQADF
PLGPATHGET YRCFGSFHGS PYEWSDASDP LPVSVTGNPS SSWPSPTEPS FKTGIARHLH
AVIRYSVAII LFTILPFFLL HRWCSKKKVS LTKQRPENSG PCAEAGWEHA DAAVMNQEPA
GHRTVNREDS DEQDPQEVTY AQLDHCIFTQ RKITGPSQRS KRPSTDTSVC IELPNAEPRA
LSPAHEHHSQ ALMGSSRETT ALSQTQLASS NVPAAGI*
speed 1.03 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: 0.999999999998095 (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) chr19:55317669C>GN/A show variant in all transcripts   IGV
HGNC symbol KIR2DL4
Ensembl transcript ID ENST00000396293
Genbank transcript ID N/A
UniProt peptide Q99706
alteration type single base exchange
alteration region CDS
DNA changes c.340C>G
cDNA.351C>G
g.81668C>G
AA changes P114A Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 114
frameshift no
known variant Reference ID: rs1051456
databasehomozygous (G/G)heterozygousallele carriers
1000G10136511664
ExAC4170111
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6480
-0.4130.002
(flanking)0.8670.011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased81664wt: 0.49 / mu: 0.87wt: TGGTCAGACCCGAGT
mu: TGGTCAGACGCGAGT		 GTCA|gacc
Donor marginally increased81666wt: 0.9720 / mu: 0.9731 (marginal change - not scored)wt: GTCAGACCCGAGTGA
mu: GTCAGACGCGAGTGA		 CAGA|cccg
distance from splice site 31
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      114SFHGSPYEWSDPSDPLPVSVTDAA
mutated  not conserved    114SFHGSPYEWSDASDPLPV
Ptroglodytes  not conserved  ENSPTRG00000011472  209SFHESPYEWSNSSDPLLVSVTGNPSSSWPSPTEPSFKTGIARH
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031424  308SFRNASHVWSSPSDPL
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 
22242TOPO_DOMExtracellular (Potential).lost
139202DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
141141CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
146146DISULFIDBy similarity.might get lost (downstream of altered splice site)
175175CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
195195DISULFIDBy similarity.might get lost (downstream of altered splice site)
229229CONFLICTT -> P (in Ref. 7; AAD24763).might get lost (downstream of altered splice site)
243263TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
264377TOPO_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 693 / 693
position (AA) of stopcodon in wt / mu AA sequence 231 / 231
position of stopcodon in wt / mu cDNA 704 / 704
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 435
theoretical NMD boundary in CDS 373
length of CDS 693
coding sequence (CDS) position 340
cDNA position
(for ins/del: last normal base / first normal base)		 351
gDNA position
(for ins/del: last normal base / first normal base)		 81668
chromosomal position
(for ins/del: last normal base / first normal base)		 55317669
original gDNA sequence snippet CTCCCTACGAGTGGTCAGACCCGAGTGACCCACTGCCTGTT
altered gDNA sequence snippet CTCCCTACGAGTGGTCAGACGCGAGTGACCCACTGCCTGTT
original cDNA sequence snippet CTCCCTACGAGTGGTCAGACCCGAGTGACCCACTGCCTGTT
altered cDNA sequence snippet CTCCCTACGAGTGGTCAGACGCGAGTGACCCACTGCCTGTT
wildtype AA sequence MSMSPTVIIL ACLGFFLDQS VWAHVGLYEK PSLTARPGPT VRAGENVTLS CSSQSSFDIY
HLSREGEAHE LRLPAVPSIN GTFQADFPLG PATHGETYRC FGSFHGSPYE WSDPSDPLPV
SVTDAAVMNQ EPAGHRTVNR EDSDEQDPQE VTYAQLDHCI FTQRKITGPS QRSKRPSTDT
SVCIELPNAE PRALSPAHEH HSQALMGSSR ETTALSQTQL ASSNVPAAGI *
mutated AA sequence MSMSPTVIIL ACLGFFLDQS VWAHVGLYEK PSLTARPGPT VRAGENVTLS CSSQSSFDIY
HLSREGEAHE LRLPAVPSIN GTFQADFPLG PATHGETYRC FGSFHGSPYE WSDASDPLPV
SVTDAAVMNQ EPAGHRTVNR EDSDEQDPQE VTYAQLDHCI FTQRKITGPS QRSKRPSTDT
SVCIELPNAE PRALSPAHEH HSQALMGSSR ETTALSQTQL ASSNVPAAGI *
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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998095 (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) chr19:55317669C>GN/A show variant in all transcripts   IGV
HGNC symbol KIR2DL4
Ensembl transcript ID ENST00000346587
Genbank transcript ID N/A
UniProt peptide Q99706
alteration type single base exchange
alteration region CDS
DNA changes c.340C>G
cDNA.340C>G
g.81668C>G
AA changes P114A Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 114
frameshift no
known variant Reference ID: rs1051456
databasehomozygous (G/G)heterozygousallele carriers
1000G10136511664
ExAC4170111
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6480
-0.4130.002
(flanking)0.8670.011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased81664wt: 0.49 / mu: 0.87wt: TGGTCAGACCCGAGT
mu: TGGTCAGACGCGAGT		 GTCA|gacc
Donor marginally increased81666wt: 0.9720 / mu: 0.9731 (marginal change - not scored)wt: GTCAGACCCGAGTGA
mu: GTCAGACGCGAGTGA		 CAGA|cccg
distance from splice site 31
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      114SFHGSPYEWSDPSDPLPVSVTGNP
mutated  not conserved    114SFHGSPYEWSDASDPLPV
Ptroglodytes  not conserved  ENSPTRG00000011472  209SFHESPYEWSNSSDPLLVSVTGN
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031424  308SFRNASHVWSSPSDPLYLPAKGN
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 
22242TOPO_DOMExtracellular (Potential).lost
139202DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
141141CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
146146DISULFIDBy similarity.might get lost (downstream of altered splice site)
175175CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
195195DISULFIDBy similarity.might get lost (downstream of altered splice site)
229229CONFLICTT -> P (in Ref. 7; AAD24763).might get lost (downstream of altered splice site)
243263TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
264377TOPO_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 744 / 744
position (AA) of stopcodon in wt / mu AA sequence 248 / 248
position of stopcodon in wt / mu cDNA 744 / 744
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 1 / 1
chromosome 19
strand 1
last intron/exon boundary 475
theoretical NMD boundary in CDS 424
length of CDS 744
coding sequence (CDS) position 340
cDNA position
(for ins/del: last normal base / first normal base)		 340
gDNA position
(for ins/del: last normal base / first normal base)		 81668
chromosomal position
(for ins/del: last normal base / first normal base)		 55317669
original gDNA sequence snippet CTCCCTACGAGTGGTCAGACCCGAGTGACCCACTGCCTGTT
altered gDNA sequence snippet CTCCCTACGAGTGGTCAGACGCGAGTGACCCACTGCCTGTT
original cDNA sequence snippet CTCCCTACGAGTGGTCAGACCCGAGTGACCCACTGCCTGTT
altered cDNA sequence snippet CTCCCTACGAGTGGTCAGACGCGAGTGACCCACTGCCTGTT
wildtype AA sequence MSMSPTVIIL ACLGFFLDQS VWAHVGLYEK PSLTARPGPT VRAGENVTLS CSSQSSFDIY
HLSREGEAHE LRLPAVPSIN GTFQADFPLG PATHGETYRC FGSFHGSPYE WSDPSDPLPV
SVTGNPSSSW PSPTEPSFKT DAAVMNQEPA GHRTVNREDS DEQDPQEVTY AQLDHCIFTQ
RKITGPSQRS KRPSTDTSVC IELPNAEPRA LSPAHEHHSQ ALMGSSRETT ALSQTQLASS
NVPAAGI*
mutated AA sequence MSMSPTVIIL ACLGFFLDQS VWAHVGLYEK PSLTARPGPT VRAGENVTLS CSSQSSFDIY
HLSREGEAHE LRLPAVPSIN GTFQADFPLG PATHGETYRC FGSFHGSPYE WSDASDPLPV
SVTGNPSSSW PSPTEPSFKT DAAVMNQEPA GHRTVNREDS DEQDPQEVTY AQLDHCIFTQ
RKITGPSQRS KRPSTDTSVC IELPNAEPRA LSPAHEHHSQ ALMGSSRETT ALSQTQLASS
NVPAAGI*
speed 0.95 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: without_aae, prob: 0.999999793072876 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr19:55317669C>GN/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 intron
DNA changes g.81701C>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs1051456
databasehomozygous (G/G)heterozygousallele carriers
1000G10136511664
ExAC4170111
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6480
-0.4130.002
(flanking)0.8670.011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased81697wt: 0.49 / mu: 0.87wt: TGGTCAGACCCGAGT
mu: TGGTCAGACGCGAGT		 GTCA|gacc
Donor marginally increased81699wt: 0.9720 / mu: 0.9731 (marginal change - not scored)wt: GTCAGACCCGAGTGA
mu: GTCAGACGCGAGTGA		 CAGA|cccg
distance from splice site 11320
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
121SIGNALBy similarity.might get lost (downstream of altered splice site)
22340TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
3035STRANDmight get lost (downstream of altered splice site)
3740STRANDmight get lost (downstream of altered splice site)
42102DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
4551STRANDmight get lost (downstream of altered splice site)
4949DISULFIDBy similarity.might get lost (downstream of altered splice site)
5764STRANDmight get lost (downstream of altered splice site)
6668STRANDmight get lost (downstream of altered splice site)
7073HELIXmight get lost (downstream of altered splice site)
7678STRANDmight get lost (downstream of altered splice site)
8082STRANDmight get lost (downstream of altered splice site)
8789HELIXmight get lost (downstream of altered splice site)
9198STRANDmight get lost (downstream of altered splice site)
9292CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
9595DISULFIDBy similarity.might get lost (downstream of altered splice site)
100106STRANDmight get lost (downstream of altered splice site)
113118STRANDmight get lost (downstream of altered splice site)
125130STRANDmight get lost (downstream of altered splice site)
132135STRANDmight get lost (downstream of altered splice site)
137202DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
140148STRANDmight get lost (downstream of altered splice site)
144144DISULFIDBy similarity.might get lost (downstream of altered splice site)
151157STRANDmight get lost (downstream of altered splice site)
165168STRANDmight get lost (downstream of altered splice site)
170172STRANDmight get lost (downstream of altered splice site)
175182STRANDmight get lost (downstream of altered splice site)
179179CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
187189HELIXmight get lost (downstream of altered splice site)
191198STRANDmight get lost (downstream of altered splice site)
195195DISULFIDBy similarity.might get lost (downstream of altered splice site)
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 N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 81701
chromosomal position
(for ins/del: last normal base / first normal base)		 55317669
original gDNA sequence snippet CTCCCTACGAGTGGTCAGACCCGAGTGACCCACTGCCTGTT
altered gDNA sequence snippet CTCCCTACGAGTGGTCAGACGCGAGTGACCCACTGCCTGTT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
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 N/A
speed 0.75 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: without_aae, prob: 0.999999793072876 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr19:55317669C>GN/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 intron
DNA changes g.81701C>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs1051456
databasehomozygous (G/G)heterozygousallele carriers
1000G10136511664
ExAC4170111
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6480
-0.4130.002
(flanking)0.8670.011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased81697wt: 0.49 / mu: 0.87wt: TGGTCAGACCCGAGT
mu: TGGTCAGACGCGAGT		 GTCA|gacc
Donor marginally increased81699wt: 0.9720 / mu: 0.9731 (marginal change - not scored)wt: GTCAGACCCGAGTGA
mu: GTCAGACGCGAGTGA		 CAGA|cccg
distance from splice site 11320
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
121SIGNALBy similarity.might get lost (downstream of altered splice site)
22340TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
3035STRANDmight get lost (downstream of altered splice site)
3740STRANDmight get lost (downstream of altered splice site)
42102DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
4551STRANDmight get lost (downstream of altered splice site)
4949DISULFIDBy similarity.might get lost (downstream of altered splice site)
5764STRANDmight get lost (downstream of altered splice site)
6668STRANDmight get lost (downstream of altered splice site)
7073HELIXmight get lost (downstream of altered splice site)
7678STRANDmight get lost (downstream of altered splice site)
8082STRANDmight get lost (downstream of altered splice site)
8789HELIXmight get lost (downstream of altered splice site)
9198STRANDmight get lost (downstream of altered splice site)
9292CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
9595DISULFIDBy similarity.might get lost (downstream of altered splice site)
100106STRANDmight get lost (downstream of altered splice site)
113118STRANDmight get lost (downstream of altered splice site)
125130STRANDmight get lost (downstream of altered splice site)
132135STRANDmight get lost (downstream of altered splice site)
137202DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
140148STRANDmight get lost (downstream of altered splice site)
144144DISULFIDBy similarity.might get lost (downstream of altered splice site)
151157STRANDmight get lost (downstream of altered splice site)
165168STRANDmight get lost (downstream of altered splice site)
170172STRANDmight get lost (downstream of altered splice site)
175182STRANDmight get lost (downstream of altered splice site)
179179CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
187189HELIXmight get lost (downstream of altered splice site)
191198STRANDmight get lost (downstream of altered splice site)
195195DISULFIDBy similarity.might get lost (downstream of altered splice site)
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 N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 81701
chromosomal position
(for ins/del: last normal base / first normal base)		 55317669
original gDNA sequence snippet CTCCCTACGAGTGGTCAGACCCGAGTGACCCACTGCCTGTT
altered gDNA sequence snippet CTCCCTACGAGTGGTCAGACGCGAGTGACCCACTGCCTGTT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
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 N/A
speed 0.59 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
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999793072876 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr19:55317669C>GN/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 intron
DNA changes g.81701C>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs1051456
databasehomozygous (G/G)heterozygousallele carriers
1000G10136511664
ExAC4170111
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6480
-0.4130.002
(flanking)0.8670.011
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased81697wt: 0.49 / mu: 0.87wt: TGGTCAGACCCGAGT
mu: TGGTCAGACGCGAGT		 GTCA|gacc
Donor marginally increased81699wt: 0.9720 / mu: 0.9731 (marginal change - not scored)wt: GTCAGACCCGAGTGA
mu: GTCAGACGCGAGTGA		 CAGA|cccg
distance from splice site 11320
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
121SIGNALBy similarity.might get lost (downstream of altered splice site)
22340TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
3035STRANDmight get lost (downstream of altered splice site)
3740STRANDmight get lost (downstream of altered splice site)
42102DOMAINIg-like C2-type 1.might get lost (downstream of altered splice site)
4551STRANDmight get lost (downstream of altered splice site)
4949DISULFIDBy similarity.might get lost (downstream of altered splice site)
5764STRANDmight get lost (downstream of altered splice site)
6668STRANDmight get lost (downstream of altered splice site)
7073HELIXmight get lost (downstream of altered splice site)
7678STRANDmight get lost (downstream of altered splice site)
8082STRANDmight get lost (downstream of altered splice site)
8789HELIXmight get lost (downstream of altered splice site)
9198STRANDmight get lost (downstream of altered splice site)
9292CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
9595DISULFIDBy similarity.might get lost (downstream of altered splice site)
100106STRANDmight get lost (downstream of altered splice site)
113118STRANDmight get lost (downstream of altered splice site)
125130STRANDmight get lost (downstream of altered splice site)
132135STRANDmight get lost (downstream of altered splice site)
137202DOMAINIg-like C2-type 2.might get lost (downstream of altered splice site)
140148STRANDmight get lost (downstream of altered splice site)
144144DISULFIDBy similarity.might get lost (downstream of altered splice site)
151157STRANDmight get lost (downstream of altered splice site)
165168STRANDmight get lost (downstream of altered splice site)
170172STRANDmight get lost (downstream of altered splice site)
175182STRANDmight get lost (downstream of altered splice site)
179179CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
187189HELIXmight get lost (downstream of altered splice site)
191198STRANDmight get lost (downstream of altered splice site)
195195DISULFIDBy similarity.might get lost (downstream of altered splice site)
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 N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 81701
chromosomal position
(for ins/del: last normal base / first normal base)		 55317669
original gDNA sequence snippet CTCCCTACGAGTGGTCAGACCCGAGTGACCCACTGCCTGTT
altered gDNA sequence snippet CTCCCTACGAGTGGTCAGACGCGAGTGACCCACTGCCTGTT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
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 N/A
speed 0.58 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
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Problems