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 4.796389 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
KIR3DL1polymorphism_automatic2.87169954482636e-10simple_aaeaffectedP203Ssingle base exchangers143886704show file
KIR3DL1polymorphism_automatic2.87169954482636e-10simple_aaeaffectedP203Ssingle base exchangers143886704show file
KIR3DL1polymorphism_automatic2.87169954482636e-10simple_aaeaffectedP108Ssingle base exchangers143886704show file
KIR3DL1polymorphism_automatic2.87169954482636e-10simple_aaeaffectedP203Ssingle base exchangers143886704show file
KIR3DL1polymorphism_automatic2.87169954482636e-10simple_aaeaffectedP203Ssingle base exchangers143886704show file
KIR3DL1polymorphism_automatic2.87169954482636e-10simple_aaeaffectedP203Ssingle base exchangers143886704show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999971283 (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) chr19:55331419C>TN/A show variant in all transcripts   IGV
HGNC symbol KIR3DL1
Ensembl transcript ID ENST00000391728
Genbank transcript ID NM_013289
UniProt peptide P43629
alteration type single base exchange
alteration region CDS
DNA changes c.607C>T
cDNA.640C>T
g.95451C>T
AA changes P203S Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 203
frameshift no
known variant Reference ID: rs143886704
databasehomozygous (T/T)heterozygousallele carriers
1000G307504811
ExAC111631044121604
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1250.002
-0.7130
(flanking)0.1730
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased95454wt: 0.7024 / mu: 0.7672 (marginal change - not scored)wt: GTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGT
mu: GTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGT		 ccct|ATCA
Acc increased95449wt: 0.47 / mu: 0.74wt: CTACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTC
mu: CTACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTC		 acac|CCCC
Acc marginally increased95456wt: 0.2752 / mu: 0.3481 (marginal change - not scored)wt: TCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGTGA
mu: TCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGTGA		 ctat|CAGT
Acc increased95459wt: 0.49 / mu: 0.66wt: GTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGTGATCC
mu: GTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGTGATCC		 tcag|TTGT
Acc marginally increased95442wt: 0.2984 / mu: 0.3382 (marginal change - not scored)wt: ACAGATGCTACGGTTCTGTTACTCACACCCCCTATCAGTTG
mu: ACAGATGCTACGGTTCTGTTACTCACACCTCCTATCAGTTG		 gtta|CTCA
Acc marginally increased95458wt: 0.9875 / mu: 0.9876 (marginal change - not scored)wt: TGTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGTGATC
mu: TGTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGTGATC		 atca|GTTG
Acc marginally increased95447wt: 0.5761 / mu: 0.5775 (marginal change - not scored)wt: TGCTACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGC
mu: TGCTACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGC		 tcac|ACCC
distance from splice site 49
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      203TYRCYGSVTHTPYQLSAPSDPLDI
mutated  not conserved    203TYRCYGSVTHTSYQLSAPSDPLD
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031424  203TYTCYGANSYYPYEWSDSSDPID
Ggallus  all identical  ENSGALG00000018732  33KYWCQYRVLEPP-RVSEKSVPIE
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
137202DOMAINIg-like C2-type 2.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 607
cDNA position
(for ins/del: last normal base / first normal base)		 640
gDNA position
(for ins/del: last normal base / first normal base)		 95451
chromosomal position
(for ins/del: last normal base / first normal base)		 55331419
original gDNA sequence snippet ACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCC
altered gDNA sequence snippet ACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCC
original cDNA sequence snippet ACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCC
altered cDNA sequence snippet ACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCC
wildtype AA sequence MSLMVVSMAC VGLFLVQRAG PHMGGQDKPF LSAWPSAVVP RGGHVTLRCH YRHRFNNFML
YKEDRIHIPI FHGRIFQESF NMSPVTTAHA GNYTCRGSHP HSPTGWSAPS NPVVIMVTGN
HRKPSLLAHP GPLVKSGERV ILQCWSDIMF EHFFLHKEGI SKDPSRLVGQ IHDGVSKANF
SIGPMMLALA GTYRCYGSVT HTPYQLSAPS DPLDIVVTGP YEKPSLSAQP GPKVQAGESV
TLSCSSRSSY DMYHLSREGG AHERRLPAVR KVNRTFQADF PLGPATHGGT YRCFGSFRHS
PYEWSDPSDP LLVSVTGNPS SSWPSPTEPS SKSGNPRHLH ILIGTSVVII LFILLLFFLL
HLWCSNKKNA AVMDQEPAGN RTANSEDSDE QDPEEVTYAQ LDHCVFTQRK ITRPSQRPKT
PPTDTILYTE LPNAKPRSKV VSCP*
mutated AA sequence MSLMVVSMAC VGLFLVQRAG PHMGGQDKPF LSAWPSAVVP RGGHVTLRCH YRHRFNNFML
YKEDRIHIPI FHGRIFQESF NMSPVTTAHA GNYTCRGSHP HSPTGWSAPS NPVVIMVTGN
HRKPSLLAHP GPLVKSGERV ILQCWSDIMF EHFFLHKEGI SKDPSRLVGQ IHDGVSKANF
SIGPMMLALA GTYRCYGSVT HTSYQLSAPS 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 0.67 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: 0.99999999971283 (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) chr19:55331419C>TN/A show variant in all transcripts   IGV
HGNC symbol KIR3DL1
Ensembl transcript ID ENST00000326542
Genbank transcript ID N/A
UniProt peptide P43629
alteration type single base exchange
alteration region CDS
DNA changes c.607C>T
cDNA.621C>T
g.95451C>T
AA changes P203S Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 203
frameshift no
known variant Reference ID: rs143886704
databasehomozygous (T/T)heterozygousallele carriers
1000G307504811
ExAC111631044121604
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1250.002
-0.7130
(flanking)0.1730
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased95454wt: 0.7024 / mu: 0.7672 (marginal change - not scored)wt: GTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGT
mu: GTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGT		 ccct|ATCA
Acc increased95449wt: 0.47 / mu: 0.74wt: CTACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTC
mu: CTACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTC		 acac|CCCC
Acc marginally increased95456wt: 0.2752 / mu: 0.3481 (marginal change - not scored)wt: TCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGTGA
mu: TCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGTGA		 ctat|CAGT
Acc increased95459wt: 0.49 / mu: 0.66wt: GTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGTGATCC
mu: GTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGTGATCC		 tcag|TTGT
Acc marginally increased95442wt: 0.2984 / mu: 0.3382 (marginal change - not scored)wt: ACAGATGCTACGGTTCTGTTACTCACACCCCCTATCAGTTG
mu: ACAGATGCTACGGTTCTGTTACTCACACCTCCTATCAGTTG		 gtta|CTCA
Acc marginally increased95458wt: 0.9875 / mu: 0.9876 (marginal change - not scored)wt: TGTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGTGATC
mu: TGTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGTGATC		 atca|GTTG
Acc marginally increased95447wt: 0.5761 / mu: 0.5775 (marginal change - not scored)wt: TGCTACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGC
mu: TGCTACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGC		 tcac|ACCC
distance from splice site 49
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      203TYRCYGSVTHTPYQLSAPSDPLDI
mutated  not conserved    203TYRCYGSVTHTSYQLSAPSDPLD
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031424  203TYTCYGANSYYPYEWSDSSDPID
Ggallus  all identical  ENSGALG00000018732  33KYWCQYRVLEPP-RVSEKSVPIE
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
137202DOMAINIg-like C2-type 2.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 607
cDNA position
(for ins/del: last normal base / first normal base)		 621
gDNA position
(for ins/del: last normal base / first normal base)		 95451
chromosomal position
(for ins/del: last normal base / first normal base)		 55331419
original gDNA sequence snippet ACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCC
altered gDNA sequence snippet ACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCC
original cDNA sequence snippet ACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCC
altered cDNA sequence snippet ACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCC
wildtype AA sequence MSLMVVSMAC VGLFLVQRAG PHMGGQDKPF LSAWPSAVVP RGGHVTLRCH YRHRFNNFML
YKEDRIHIPI FHGRIFQESF NMSPVTTAHA GNYTCRGSHP HSPTGWSAPS NPVVIMVTGN
HRKPSLLAHP GPLVKSGERV ILQCWSDIMF EHFFLHKEGI SKDPSRLVGQ IHDGVSKANF
SIGPMMLALA GTYRCYGSVT HTPYQLSAPS DPLDIVVTGP YEKPSLSAQP GPKVQAGESV
TLSCSSRSSY DMYHLSREGG AHERRLPAVR KVNRTFQADF PLGPATHGGT YRCFGSFRHS
PYEWSDPSDP LLVSVTGNPR HLHILIGTSV VIILFILLLF FLLHLWCSNK KNAAVMDQEP
AGNRTANSED SDEQDPEEVT YAQLDHCVFT QRKITRPSQR PKTPPTDTIL YTELPNAKPR
SKVVSCP*
mutated AA sequence MSLMVVSMAC VGLFLVQRAG PHMGGQDKPF LSAWPSAVVP RGGHVTLRCH YRHRFNNFML
YKEDRIHIPI FHGRIFQESF NMSPVTTAHA GNYTCRGSHP HSPTGWSAPS NPVVIMVTGN
HRKPSLLAHP GPLVKSGERV ILQCWSDIMF EHFFLHKEGI SKDPSRLVGQ IHDGVSKANF
SIGPMMLALA GTYRCYGSVT HTSYQLSAPS DPLDIVVTGP YEKPSLSAQP GPKVQAGESV
TLSCSSRSSY DMYHLSREGG AHERRLPAVR KVNRTFQADF PLGPATHGGT YRCFGSFRHS
PYEWSDPSDP LLVSVTGNPR HLHILIGTSV VIILFILLLF FLLHLWCSNK KNAAVMDQEP
AGNRTANSED SDEQDPEEVT YAQLDHCVFT QRKITRPSQR PKTPPTDTIL YTELPNAKPR
SKVVSCP*
speed 0.77 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: 0.99999999971283 (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) chr19:55331419C>TN/A show variant in all transcripts   IGV
HGNC symbol KIR3DL1
Ensembl transcript ID ENST00000358178
Genbank transcript ID N/A
UniProt peptide P43629
alteration type single base exchange
alteration region CDS
DNA changes c.322C>T
cDNA.333C>T
g.95451C>T
AA changes P108S Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 108
frameshift no
known variant Reference ID: rs143886704
databasehomozygous (T/T)heterozygousallele carriers
1000G307504811
ExAC111631044121604
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1250.002
-0.7130
(flanking)0.1730
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased95454wt: 0.7024 / mu: 0.7672 (marginal change - not scored)wt: GTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGT
mu: GTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGT		 ccct|ATCA
Acc increased95449wt: 0.47 / mu: 0.74wt: CTACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTC
mu: CTACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTC		 acac|CCCC
Acc marginally increased95456wt: 0.2752 / mu: 0.3481 (marginal change - not scored)wt: TCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGTGA
mu: TCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGTGA		 ctat|CAGT
Acc increased95459wt: 0.49 / mu: 0.66wt: GTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGTGATCC
mu: GTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGTGATCC		 tcag|TTGT
Acc marginally increased95442wt: 0.2984 / mu: 0.3382 (marginal change - not scored)wt: ACAGATGCTACGGTTCTGTTACTCACACCCCCTATCAGTTG
mu: ACAGATGCTACGGTTCTGTTACTCACACCTCCTATCAGTTG		 gtta|CTCA
Acc marginally increased95458wt: 0.9875 / mu: 0.9876 (marginal change - not scored)wt: TGTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGTGATC
mu: TGTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGTGATC		 atca|GTTG
Acc marginally increased95447wt: 0.5761 / mu: 0.5775 (marginal change - not scored)wt: TGCTACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGC
mu: TGCTACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGC		 tcac|ACCC
distance from splice site 49
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      108TYRCYGSVTHTPYQLSAPSDPLDI
mutated  not conserved    108TYRCYGSVTHTSYQLSAPSDPLD
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031424  203TYTCYGANSYYPYEWSDSSDPID
Ggallus  all identical  ENSGALG00000018732  33KYWCQYRVLEPP-RVSEKSVPIE
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
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 1050 / 1050
position (AA) of stopcodon in wt / mu AA sequence 350 / 350
position of stopcodon in wt / mu cDNA 1061 / 1061
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 12 / 12
chromosome 19
strand 1
last intron/exon boundary 885
theoretical NMD boundary in CDS 823
length of CDS 1050
coding sequence (CDS) position 322
cDNA position
(for ins/del: last normal base / first normal base)		 333
gDNA position
(for ins/del: last normal base / first normal base)		 95451
chromosomal position
(for ins/del: last normal base / first normal base)		 55331419
original gDNA sequence snippet ACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCC
altered gDNA sequence snippet ACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCC
original cDNA sequence snippet ACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCC
altered cDNA sequence snippet ACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCC
wildtype AA sequence MSLMVVSMAC VGLFLVQRAG PHMGNHRKPS LLAHPGPLVK SGERVILQCW SDIMFEHFFL
HKEGISKDPS RLVGQIHDGV SKANFSIGPM MLALAGTYRC YGSVTHTPYQ LSAPSDPLDI
VVTGPYEKPS LSAQPGPKVQ AGESVTLSCS SRSSYDMYHL SREGGAHERR LPAVRKVNRT
FQADFPLGPA THGGTYRCFG SFRHSPYEWS DPSDPLLVSV TGNPSSSWPS PTEPSSKSGN
PRHLHILIGT SVVIILFILL LFFLLHLWCS NKKNAAVMDQ EPAGNRTANS EDSDEQDPEE
VTYAQLDHCV FTQRKITRPS QRPKTPPTDT ILYTELPNAK PRSKVVSCP*
mutated AA sequence MSLMVVSMAC VGLFLVQRAG PHMGNHRKPS LLAHPGPLVK SGERVILQCW SDIMFEHFFL
HKEGISKDPS RLVGQIHDGV SKANFSIGPM MLALAGTYRC YGSVTHTSYQ LSAPSDPLDI
VVTGPYEKPS LSAQPGPKVQ AGESVTLSCS SRSSYDMYHL SREGGAHERR LPAVRKVNRT
FQADFPLGPA THGGTYRCFG SFRHSPYEWS DPSDPLLVSV TGNPSSSWPS PTEPSSKSGN
PRHLHILIGT SVVIILFILL LFFLLHLWCS NKKNAAVMDQ EPAGNRTANS EDSDEQDPEE
VTYAQLDHCV FTQRKITRPS QRPKTPPTDT ILYTELPNAK PRSKVVSCP*
speed 0.70 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: 0.99999999971283 (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) chr19:55331419C>TN/A show variant in all transcripts   IGV
HGNC symbol KIR3DL1
Ensembl transcript ID ENST00000541392
Genbank transcript ID NM_001242867
UniProt peptide P43629
alteration type single base exchange
alteration region CDS
DNA changes c.607C>T
cDNA.631C>T
g.95451C>T
AA changes P203S Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 203
frameshift no
known variant Reference ID: rs143886704
databasehomozygous (T/T)heterozygousallele carriers
1000G307504811
ExAC111631044121604
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1250.002
-0.7130
(flanking)0.1730
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased95454wt: 0.7024 / mu: 0.7672 (marginal change - not scored)wt: GTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGT
mu: GTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGT		 ccct|ATCA
Acc increased95449wt: 0.47 / mu: 0.74wt: CTACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTC
mu: CTACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTC		 acac|CCCC
Acc marginally increased95456wt: 0.2752 / mu: 0.3481 (marginal change - not scored)wt: TCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGTGA
mu: TCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGTGA		 ctat|CAGT
Acc increased95459wt: 0.49 / mu: 0.66wt: GTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGTGATCC
mu: GTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGTGATCC		 tcag|TTGT
Acc marginally increased95442wt: 0.2984 / mu: 0.3382 (marginal change - not scored)wt: ACAGATGCTACGGTTCTGTTACTCACACCCCCTATCAGTTG
mu: ACAGATGCTACGGTTCTGTTACTCACACCTCCTATCAGTTG		 gtta|CTCA
Acc marginally increased95458wt: 0.9875 / mu: 0.9876 (marginal change - not scored)wt: TGTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGTGATC
mu: TGTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGTGATC		 atca|GTTG
Acc marginally increased95447wt: 0.5761 / mu: 0.5775 (marginal change - not scored)wt: TGCTACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGC
mu: TGCTACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGC		 tcac|ACCC
distance from splice site 49
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      203TYRCYGSVTHTPYQLSAPSDPLDI
mutated  not conserved    203TYRCYGSVTHTSYQLSAPSDPLD
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031424  203TYTCYGANSYYPYEWSDSSDPID
Ggallus  all identical  ENSGALG00000018732  33KYWCQYRVLEPP-RVSEKSVPIE
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
137202DOMAINIg-like C2-type 2.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 607
cDNA position
(for ins/del: last normal base / first normal base)		 631
gDNA position
(for ins/del: last normal base / first normal base)		 95451
chromosomal position
(for ins/del: last normal base / first normal base)		 55331419
original gDNA sequence snippet ACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCC
altered gDNA sequence snippet ACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCC
original cDNA sequence snippet ACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCC
altered cDNA sequence snippet ACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCC
wildtype AA sequence MSLMVVSMAC VGLFLVQRAG PHMGGQDKPF LSAWPSAVVP RGGHVTLRCH YRHRFNNFML
YKEDRIHIPI FHGRIFQESF NMSPVTTAHA GNYTCRGSHP HSPTGWSAPS NPVVIMVTGN
HRKPSLLAHP GPLVKSGERV ILQCWSDIMF EHFFLHKEGI SKDPSRLVGQ IHDGVSKANF
SIGPMMLALA GTYRCYGSVT HTPYQLSAPS DPLDIVVTGP YEKPSLSAQP GPKVQAGESV
TLSCSSRSSY DMYHLSREGG AHERRLPAVR KVNRTFQADF PLGPATHGGT YRCFGSFRHS
PYEWSDPSDP LLVSVTGNPR HLHILIGTSV VIILFILLLF FLLHLWCSNK KNAAVMDQEP
AGNRTANSED SDEQDPEEVT YAQLDHCVFT QRKITRPSQR PKTPPTDTIL YTELPNAKPR
SKVVSCP*
mutated AA sequence MSLMVVSMAC VGLFLVQRAG PHMGGQDKPF LSAWPSAVVP RGGHVTLRCH YRHRFNNFML
YKEDRIHIPI FHGRIFQESF NMSPVTTAHA GNYTCRGSHP HSPTGWSAPS NPVVIMVTGN
HRKPSLLAHP GPLVKSGERV ILQCWSDIMF EHFFLHKEGI SKDPSRLVGQ IHDGVSKANF
SIGPMMLALA GTYRCYGSVT HTSYQLSAPS DPLDIVVTGP YEKPSLSAQP GPKVQAGESV
TLSCSSRSSY DMYHLSREGG AHERRLPAVR KVNRTFQADF PLGPATHGGT YRCFGSFRHS
PYEWSDPSDP LLVSVTGNPR HLHILIGTSV VIILFILLLF FLLHLWCSNK KNAAVMDQEP
AGNRTANSED SDEQDPEEVT YAQLDHCVFT QRKITRPSQR PKTPPTDTIL YTELPNAKPR
SKVVSCP*
speed 0.66 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999971283 (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) chr19:55331419C>TN/A show variant in all transcripts   IGV
HGNC symbol KIR3DL1
Ensembl transcript ID ENST00000402254
Genbank transcript ID N/A
UniProt peptide P43629
alteration type single base exchange
alteration region CDS
DNA changes c.607C>T
cDNA.640C>T
g.95451C>T
AA changes P203S Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 203
frameshift no
known variant Reference ID: rs143886704
databasehomozygous (T/T)heterozygousallele carriers
1000G307504811
ExAC111631044121604
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1250.002
-0.7130
(flanking)0.1730
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased95454wt: 0.7024 / mu: 0.7672 (marginal change - not scored)wt: GTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGT
mu: GTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGT		 ccct|ATCA
Acc increased95449wt: 0.47 / mu: 0.74wt: CTACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTC
mu: CTACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTC		 acac|CCCC
Acc marginally increased95456wt: 0.2752 / mu: 0.3481 (marginal change - not scored)wt: TCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGTGA
mu: TCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGTGA		 ctat|CAGT
Acc increased95459wt: 0.49 / mu: 0.66wt: GTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGTGATCC
mu: GTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGTGATCC		 tcag|TTGT
Acc marginally increased95442wt: 0.2984 / mu: 0.3382 (marginal change - not scored)wt: ACAGATGCTACGGTTCTGTTACTCACACCCCCTATCAGTTG
mu: ACAGATGCTACGGTTCTGTTACTCACACCTCCTATCAGTTG		 gtta|CTCA
Acc marginally increased95458wt: 0.9875 / mu: 0.9876 (marginal change - not scored)wt: TGTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGTGATC
mu: TGTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGTGATC		 atca|GTTG
Acc marginally increased95447wt: 0.5761 / mu: 0.5775 (marginal change - not scored)wt: TGCTACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGC
mu: TGCTACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGC		 tcac|ACCC
distance from splice site 49
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      203TYRCYGSVTHTPYQLSAPSDPLDI
mutated  not conserved    203TYRCYGSVTHTSYQLSAPSDPLD
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031424  203TYTCYGANSYYPYEWSDSSDPID
Ggallus  all identical  ENSGALG00000018732  33KYWCQYRVLEPP-RVSEKSVPIE
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
137202DOMAINIg-like C2-type 2.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 607
cDNA position
(for ins/del: last normal base / first normal base)		 640
gDNA position
(for ins/del: last normal base / first normal base)		 95451
chromosomal position
(for ins/del: last normal base / first normal base)		 55331419
original gDNA sequence snippet ACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCC
altered gDNA sequence snippet ACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCC
original cDNA sequence snippet ACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCC
altered cDNA sequence snippet ACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCC
wildtype AA sequence MSLMVVSMAC VGLFLVQRAG PHMGGQDKPF LSAWPSAVVP RGGHVTLRCH YRHRFNNFML
YKEDRIHIPI FHGRIFQESF NMSPVTTAHA GNYTCRGSHP HSPTGWSAPS NPVVIMVTGN
HRKPSLLAHP GPLVKSGERV ILQCWSDIMF EHFFLHKEGI SKDPSRLVGQ IHDGVSKANF
SIGPMMLALA GTYRCYGSVT HTPYQLSAPS DPLDIVVTGP YEKPSLSAQP GPKVQAGESV
TLSCSSRSSY DMYHLSREGG AHERRLPAVR KVNRTFQADF PLGPATHGGT YRCFGSFRHS
PYEWSDPSDP LLVSVTGNPS SSWPSPTEPS SKSGICRHLH VLIGTSVVIF LFILLLFFLL
YRWCSNKKNA AVMDQEPAGD RTVNRQDSDE QDPQEVTYAQ LDHCVFIQRK ISRPSQRPKT
PLTDTSVYTE LPNAEPRSKV VSCPRAPQSG LEGVF*
mutated AA sequence MSLMVVSMAC VGLFLVQRAG PHMGGQDKPF LSAWPSAVVP RGGHVTLRCH YRHRFNNFML
YKEDRIHIPI FHGRIFQESF NMSPVTTAHA GNYTCRGSHP HSPTGWSAPS NPVVIMVTGN
HRKPSLLAHP GPLVKSGERV ILQCWSDIMF EHFFLHKEGI SKDPSRLVGQ IHDGVSKANF
SIGPMMLALA GTYRCYGSVT HTSYQLSAPS 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 0.67 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: 0.99999999971283 (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) chr19:55331419C>TN/A show variant in all transcripts   IGV
HGNC symbol KIR3DL1
Ensembl transcript ID ENST00000538269
Genbank transcript ID N/A
UniProt peptide P43629
alteration type single base exchange
alteration region CDS
DNA changes c.607C>T
cDNA.634C>T
g.95451C>T
AA changes P203S Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 203
frameshift no
known variant Reference ID: rs143886704
databasehomozygous (T/T)heterozygousallele carriers
1000G307504811
ExAC111631044121604
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1250.002
-0.7130
(flanking)0.1730
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased95454wt: 0.7024 / mu: 0.7672 (marginal change - not scored)wt: GTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGT
mu: GTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGT		 ccct|ATCA
Acc increased95449wt: 0.47 / mu: 0.74wt: CTACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTC
mu: CTACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTC		 acac|CCCC
Acc marginally increased95456wt: 0.2752 / mu: 0.3481 (marginal change - not scored)wt: TCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGTGA
mu: TCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGTGA		 ctat|CAGT
Acc increased95459wt: 0.49 / mu: 0.66wt: GTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGTGATCC
mu: GTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGTGATCC		 tcag|TTGT
Acc marginally increased95442wt: 0.2984 / mu: 0.3382 (marginal change - not scored)wt: ACAGATGCTACGGTTCTGTTACTCACACCCCCTATCAGTTG
mu: ACAGATGCTACGGTTCTGTTACTCACACCTCCTATCAGTTG		 gtta|CTCA
Acc marginally increased95458wt: 0.9875 / mu: 0.9876 (marginal change - not scored)wt: TGTTACTCACACCCCCTATCAGTTGTCAGCTCCCAGTGATC
mu: TGTTACTCACACCTCCTATCAGTTGTCAGCTCCCAGTGATC		 atca|GTTG
Acc marginally increased95447wt: 0.5761 / mu: 0.5775 (marginal change - not scored)wt: TGCTACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGC
mu: TGCTACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGC		 tcac|ACCC
distance from splice site 49
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      203TYRCYGSVTHTPYQLSAPSDPLDI
mutated  not conserved    203TYRCYGSVTHTSYQLSAPSDPLD
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000031424  203TYTCYGANSYYPYEWSDSSDPID
Ggallus  all identical  ENSGALG00000018732  33KYWCQYRVLEPP-RVSEKSVPIE
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
137202DOMAINIg-like C2-type 2.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 607
cDNA position
(for ins/del: last normal base / first normal base)		 634
gDNA position
(for ins/del: last normal base / first normal base)		 95451
chromosomal position
(for ins/del: last normal base / first normal base)		 55331419
original gDNA sequence snippet ACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCC
altered gDNA sequence snippet ACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCC
original cDNA sequence snippet ACGGTTCTGTTACTCACACCCCCTATCAGTTGTCAGCTCCC
altered cDNA sequence snippet ACGGTTCTGTTACTCACACCTCCTATCAGTTGTCAGCTCCC
wildtype AA sequence MSLMVVSMAC VGLFLVQRAG PHMGGQDKPF LSAWPSAVVP RGGHVTLRCH YRHRFNNFML
YKEDRIHIPI FHGRIFQESF NMSPVTTAHA GNYTCRGSHP HSPTGWSAPS NPVVIMVTGN
HRKPSLLAHP GPLVKSGERV ILQCWSDIMF EHFFLHKEGI SKDPSRLVGQ IHDGVSKANF
SIGPMMLALA GTYRCYGSVT HTPYQLSAPS DPLDIVVTGP YEKPSLSAQP GPKVQAGESV
TLSCSSRSSY DMYHLSREGG AHERRLPAVR KVNRTFQADF PLGPATHGGT YRCFGSFRHS
PYEWSDPSDP LLVSVTGNPS SSWPSPTEPS SKSGNPRHLH ILIGTSVVII LFILLLFFLL
HLWCSNKKNA AVMDQEPAGN RTANSEDSDE QDPEEVTYAQ LDHCVFTQRK ITRPSQRPKT
PPTDTILYTE LPNAKPRSKV VSCP*
mutated AA sequence MSLMVVSMAC VGLFLVQRAG PHMGGQDKPF LSAWPSAVVP RGGHVTLRCH YRHRFNNFML
YKEDRIHIPI FHGRIFQESF NMSPVTTAHA GNYTCRGSHP HSPTGWSAPS NPVVIMVTGN
HRKPSLLAHP GPLVKSGERV ILQCWSDIMF EHFFLHKEGI SKDPSRLVGQ IHDGVSKANF
SIGPMMLALA GTYRCYGSVT HTSYQLSAPS 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 0.72 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

Problems