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 4.635952 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
KIR3DL1polymorphism_automatic6.94000412693185e-13simple_aaeaffectedR52Hsingle base exchangers144994606show file
KIR3DL1polymorphism_automatic6.94000412693185e-13simple_aaeaffectedR52Hsingle base exchangers144994606show file
KIR3DL1polymorphism_automatic6.94000412693185e-13simple_aaeaffectedR52Hsingle base exchangers144994606show file
KIR3DL1polymorphism_automatic6.94000412693185e-13simple_aaeaffectedR52Hsingle base exchangers144994606show file
KIR3DL1polymorphism_automatic6.94000412693185e-13simple_aaeaffectedR52Hsingle base exchangers144994606show file
KIR3DL1polymorphism_automatic1.87930510042733e-08without_aaeaffectedsingle base exchangers144994606show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999306 (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) chr19:55329854G>AN/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.155G>A
cDNA.188G>A
g.93886G>A
AA changes R52H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 52
frameshift no
known variant Reference ID: rs144994606
databasehomozygous (A/A)heterozygousallele carriers
1000G97423520
ExAC69141137218286
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4560
-0.8890
(flanking)-0.1280
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased93883wt: 0.54 / mu: 0.60wt: CGTGACTCTTCGGTGTCACTATCGTCATAGGTTTAACAATT
mu: CGTGACTCTTCGGTGTCACTATCATCATAGGTTTAACAATT		 acta|TCGT
Donor increased93887wt: 0.28 / mu: 0.41wt: TATCGTCATAGGTTT
mu: TATCATCATAGGTTT		 TCGT|cata
distance from splice site 85
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      52RGGHVTLRCHYRHRFNNFMLYKED
mutated  not conserved    52RGGHVTLRCHYHHRFNNFML
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000031424  52LGQNVTLTCDSHRGSNIFKL
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
42102DOMAINIg-like C2-type 1.lost
4551STRANDmight 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 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 155
cDNA position
(for ins/del: last normal base / first normal base)		 188
gDNA position
(for ins/del: last normal base / first normal base)		 93886
chromosomal position
(for ins/del: last normal base / first normal base)		 55329854
original gDNA sequence snippet GACTCTTCGGTGTCACTATCGTCATAGGTTTAACAATTTCA
altered gDNA sequence snippet GACTCTTCGGTGTCACTATCATCATAGGTTTAACAATTTCA
original cDNA sequence snippet GACTCTTCGGTGTCACTATCGTCATAGGTTTAACAATTTCA
altered cDNA sequence snippet GACTCTTCGGTGTCACTATCATCATAGGTTTAACAATTTCA
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 YHHRFNNFML
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*
speed 1.09 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: 0.999999999999306 (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) chr19:55329854G>AN/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.155G>A
cDNA.169G>A
g.93886G>A
AA changes R52H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 52
frameshift no
known variant Reference ID: rs144994606
databasehomozygous (A/A)heterozygousallele carriers
1000G97423520
ExAC69141137218286
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4560
-0.8890
(flanking)-0.1280
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased93883wt: 0.54 / mu: 0.60wt: CGTGACTCTTCGGTGTCACTATCGTCATAGGTTTAACAATT
mu: CGTGACTCTTCGGTGTCACTATCATCATAGGTTTAACAATT		 acta|TCGT
Donor increased93887wt: 0.28 / mu: 0.41wt: TATCGTCATAGGTTT
mu: TATCATCATAGGTTT		 TCGT|cata
distance from splice site 85
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      52RGGHVTLRCHYRHRFNNFMLYKED
mutated  not conserved    52RGGHVTLRCHYHHRFNNFML
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000031424  52LGQNVTLTCDSHRGSNIFKL
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
42102DOMAINIg-like C2-type 1.lost
4551STRANDmight 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 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 155
cDNA position
(for ins/del: last normal base / first normal base)		 169
gDNA position
(for ins/del: last normal base / first normal base)		 93886
chromosomal position
(for ins/del: last normal base / first normal base)		 55329854
original gDNA sequence snippet GACTCTTCGGTGTCACTATCGTCATAGGTTTAACAATTTCA
altered gDNA sequence snippet GACTCTTCGGTGTCACTATCATCATAGGTTTAACAATTTCA
original cDNA sequence snippet GACTCTTCGGTGTCACTATCGTCATAGGTTTAACAATTTCA
altered cDNA sequence snippet GACTCTTCGGTGTCACTATCATCATAGGTTTAACAATTTCA
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 YHHRFNNFML
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*
speed 0.68 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: 0.999999999999306 (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) chr19:55329854G>AN/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.155G>A
cDNA.188G>A
g.93886G>A
AA changes R52H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 52
frameshift no
known variant Reference ID: rs144994606
databasehomozygous (A/A)heterozygousallele carriers
1000G97423520
ExAC69141137218286
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4560
-0.8890
(flanking)-0.1280
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased93883wt: 0.54 / mu: 0.60wt: CGTGACTCTTCGGTGTCACTATCGTCATAGGTTTAACAATT
mu: CGTGACTCTTCGGTGTCACTATCATCATAGGTTTAACAATT		 acta|TCGT
Donor increased93887wt: 0.28 / mu: 0.41wt: TATCGTCATAGGTTT
mu: TATCATCATAGGTTT		 TCGT|cata
distance from splice site 85
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      52RGGHVTLRCHYRHRFNNFMLYKED
mutated  not conserved    52RGGHVTLRCHYHHRFNNFML
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000031424  52LGQNVTLTCDSHRGSNIFKL
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
42102DOMAINIg-like C2-type 1.lost
4551STRANDmight 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 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 155
cDNA position
(for ins/del: last normal base / first normal base)		 188
gDNA position
(for ins/del: last normal base / first normal base)		 93886
chromosomal position
(for ins/del: last normal base / first normal base)		 55329854
original gDNA sequence snippet GACTCTTCGGTGTCACTATCGTCATAGGTTTAACAATTTCA
altered gDNA sequence snippet GACTCTTCGGTGTCACTATCATCATAGGTTTAACAATTTCA
original cDNA sequence snippet GACTCTTCGGTGTCACTATCGTCATAGGTTTAACAATTTCA
altered cDNA sequence snippet GACTCTTCGGTGTCACTATCATCATAGGTTTAACAATTTCA
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 YHHRFNNFML
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*
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: 0.999999999999306 (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) chr19:55329854G>AN/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.155G>A
cDNA.179G>A
g.93886G>A
AA changes R52H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 52
frameshift no
known variant Reference ID: rs144994606
databasehomozygous (A/A)heterozygousallele carriers
1000G97423520
ExAC69141137218286
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4560
-0.8890
(flanking)-0.1280
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased93883wt: 0.54 / mu: 0.60wt: CGTGACTCTTCGGTGTCACTATCGTCATAGGTTTAACAATT
mu: CGTGACTCTTCGGTGTCACTATCATCATAGGTTTAACAATT		 acta|TCGT
Donor increased93887wt: 0.28 / mu: 0.41wt: TATCGTCATAGGTTT
mu: TATCATCATAGGTTT		 TCGT|cata
distance from splice site 85
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      52RGGHVTLRCHYRHRFNNFMLYKED
mutated  not conserved    52RGGHVTLRCHYHHRFNNFML
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000031424  52LGQNVTLTCDSHRGSNIFKL
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
42102DOMAINIg-like C2-type 1.lost
4551STRANDmight 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 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 155
cDNA position
(for ins/del: last normal base / first normal base)		 179
gDNA position
(for ins/del: last normal base / first normal base)		 93886
chromosomal position
(for ins/del: last normal base / first normal base)		 55329854
original gDNA sequence snippet GACTCTTCGGTGTCACTATCGTCATAGGTTTAACAATTTCA
altered gDNA sequence snippet GACTCTTCGGTGTCACTATCATCATAGGTTTAACAATTTCA
original cDNA sequence snippet GACTCTTCGGTGTCACTATCGTCATAGGTTTAACAATTTCA
altered cDNA sequence snippet GACTCTTCGGTGTCACTATCATCATAGGTTTAACAATTTCA
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 YHHRFNNFML
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*
speed 0.72 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: 0.999999999999306 (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) chr19:55329854G>AN/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.155G>A
cDNA.182G>A
g.93886G>A
AA changes R52H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 52
frameshift no
known variant Reference ID: rs144994606
databasehomozygous (A/A)heterozygousallele carriers
1000G97423520
ExAC69141137218286
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4560
-0.8890
(flanking)-0.1280
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased93883wt: 0.54 / mu: 0.60wt: CGTGACTCTTCGGTGTCACTATCGTCATAGGTTTAACAATT
mu: CGTGACTCTTCGGTGTCACTATCATCATAGGTTTAACAATT		 acta|TCGT
Donor increased93887wt: 0.28 / mu: 0.41wt: TATCGTCATAGGTTT
mu: TATCATCATAGGTTT		 TCGT|cata
distance from splice site 85
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      52RGGHVTLRCHYRHRFNNFMLYKED
mutated  not conserved    52RGGHVTLRCHYHHRFNNFML
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000031424  52LGQNVTLTCDSHRGSNIFKL
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
42102DOMAINIg-like C2-type 1.lost
4551STRANDmight 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 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 155
cDNA position
(for ins/del: last normal base / first normal base)		 182
gDNA position
(for ins/del: last normal base / first normal base)		 93886
chromosomal position
(for ins/del: last normal base / first normal base)		 55329854
original gDNA sequence snippet GACTCTTCGGTGTCACTATCGTCATAGGTTTAACAATTTCA
altered gDNA sequence snippet GACTCTTCGGTGTCACTATCATCATAGGTTTAACAATTTCA
original cDNA sequence snippet GACTCTTCGGTGTCACTATCGTCATAGGTTTAACAATTTCA
altered cDNA sequence snippet GACTCTTCGGTGTCACTATCATCATAGGTTTAACAATTTCA
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 YHHRFNNFML
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*
speed 0.62 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: 0.999999981206949 (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) chr19:55329854G>AN/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 intron
DNA changes g.93886G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs144994606
databasehomozygous (A/A)heterozygousallele carriers
1000G97423520
ExAC69141137218286
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4560
-0.8890
(flanking)-0.1280
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased93883wt: 0.54 / mu: 0.60wt: CGTGACTCTTCGGTGTCACTATCGTCATAGGTTTAACAATT
mu: CGTGACTCTTCGGTGTCACTATCATCATAGGTTTAACAATT		 acta|TCGT
Donor increased93887wt: 0.28 / mu: 0.41wt: TATCGTCATAGGTTT
mu: TATCATCATAGGTTT		 TCGT|cata
distance from splice site 830
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
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 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 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)		 93886
chromosomal position
(for ins/del: last normal base / first normal base)		 55329854
original gDNA sequence snippet GACTCTTCGGTGTCACTATCGTCATAGGTTTAACAATTTCA
altered gDNA sequence snippet GACTCTTCGGTGTCACTATCATCATAGGTTTAACAATTTCA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
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 N/A
speed 0.49 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

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