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 7 transcript(s)...
Querying Taster for transcript #1: ENST00000231229
Querying Taster for transcript #2: ENST00000340184
Querying Taster for transcript #3: ENST00000400707
Querying Taster for transcript #4: ENST00000508408
Querying Taster for transcript #5: ENST00000511704
Querying Taster for transcript #6: ENST00000505126
Querying Taster for transcript #7: ENST00000533815
MT speed 0 s - this script 4.89373 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
BTNL8polymorphism_automatic9.99200722162641e-16simple_aaeaffectedT143Asingle base exchangers2276995show file
BTNL8polymorphism_automatic9.99200722162641e-16simple_aaeaffectedT143Asingle base exchangers2276995show file
BTNL8polymorphism_automatic9.99200722162641e-16simple_aaeaffectedT18Asingle base exchangers2276995show file
BTNL8polymorphism_automatic9.99200722162641e-16simple_aaeaffectedT143Asingle base exchangers2276995show file
BTNL8polymorphism_automatic9.99200722162641e-16simple_aaeaffectedT27Asingle base exchangers2276995show file
BTNL8polymorphism_automatic1.45445801870148e-05without_aaeaffectedsingle base exchangers2276995show file
BTNL8polymorphism_automatic1.45445801870148e-05without_aaeaffectedsingle base exchangers2276995show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999999 (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) chr5:180338368A>GN/A show variant in all transcripts   IGV
HGNC symbol BTNL8
Ensembl transcript ID ENST00000231229
Genbank transcript ID NM_024850
UniProt peptide Q6UX41
alteration type single base exchange
alteration region CDS
DNA changes c.427A>G
cDNA.661A>G
g.12292A>G
AA changes T143A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 143
frameshift no
known variant Reference ID: rs2276995
databasehomozygous (G/G)heterozygousallele carriers
1000G52311201643
ExAC93361409523431
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.7990
-1.4010
(flanking)-3.6510
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 increased12290wt: 0.8637 / mu: 0.9037 (marginal change - not scored)wt: CTCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAG
mu: CTCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAG		 ccat|CACG
Acc marginally increased12293wt: 0.8593 / mu: 0.8751 (marginal change - not scored)wt: AGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGACA
mu: AGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGACA		 tcac|GGGA
Acc increased12284wt: 0.29 / mu: 0.38wt: ACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGTTG
mu: ACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTTG		 tcat|TTCC
Acc increased12283wt: 0.59 / mu: 0.70wt: CACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGTT
mu: CACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTT		 ctca|TTTC
Acc marginally increased12288wt: 0.9542 / mu: 0.9706 (marginal change - not scored)wt: GGCTCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAG
mu: GGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAG		 ttcc|ATCA
Acc increased12291wt: 0.35 / mu: 0.72wt: TCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGA
mu: TCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGA		 catc|ACGG
Acc marginally increased12300wt: 0.7056 / mu: 0.7155 (marginal change - not scored)wt: CTCATTTCCATCACGGGATATGTTGATAGAGACATCCAGCT
mu: CTCATTTCCATCGCGGGATATGTTGATAGAGACATCCAGCT		 atat|GTTG
Acc marginally increased12282wt: 0.2015 / mu: 0.2457 (marginal change - not scored)wt: GCACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGT
mu: GCACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGT		 tctc|ATTT
distance from splice site 30
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      143SALGSVPLISITGYVDRDIQLLCQ
mutated  not conserved    143SALGSVPLISIAGYVDRDIQLLC
Ptroglodytes  not conserved  ENSPTRG00000017644  143SALGSVPLISIAGYVDRDIQLLC
Mmulatta  not conserved  ENSMMUG00000019858  143SALGSVPLISIVGYVDRGIQLLC
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
18238TOPO_DOMExtracellular (Potential).lost
133222DOMAINIg-like V-type 2.lost
154154DISULFIDBy similarity.might get lost (downstream of altered splice site)
206206DISULFIDBy similarity.might get lost (downstream of altered splice site)
239259TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
260500TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
270466DOMAINB30.2/SPRY.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1044 / 1044
position (AA) of stopcodon in wt / mu AA sequence 348 / 348
position of stopcodon in wt / mu cDNA 1278 / 1278
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 235 / 235
chromosome 5
strand 1
last intron/exon boundary 1227
theoretical NMD boundary in CDS 942
length of CDS 1044
coding sequence (CDS) position 427
cDNA position
(for ins/del: last normal base / first normal base)		 661
gDNA position
(for ins/del: last normal base / first normal base)		 12292
chromosomal position
(for ins/del: last normal base / first normal base)		 180338368
original gDNA sequence snippet CAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGAC
altered gDNA sequence snippet CAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGAC
original cDNA sequence snippet CAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGAC
altered cDNA sequence snippet CAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGAC
wildtype AA sequence MALMLSLVLS LLKLGSGQWQ VFGPDKPVQA LVGEDAAFSC FLSPKTNAEA MEVRFFRGQF
SSVVHLYRDG KDQPFMQMPQ YQGRTKLVKD SIAEGRISLR LENITVLDAG LYGCRISSQS
YYQKAIWELQ VSALGSVPLI SITGYVDRDI QLLCQSSGWF PRPTAKWKGP QGQDLSTDSR
TNRDMHGLFD VEISLTVQEN AGSISCSMRH AHLSREVESR VQIGDTFFEP ISWHLATKVL
GILCCGLFFG IVGLKIFFSK FQCKREREAW AGALFMVPAG TGSEMLPHPA ASLLLVLASR
GPGPKKENPG GTGLEKKART GRIERRPETR SGGDSGSRDG SPEALRF*
mutated AA sequence MALMLSLVLS LLKLGSGQWQ VFGPDKPVQA LVGEDAAFSC FLSPKTNAEA MEVRFFRGQF
SSVVHLYRDG KDQPFMQMPQ YQGRTKLVKD SIAEGRISLR LENITVLDAG LYGCRISSQS
YYQKAIWELQ VSALGSVPLI SIAGYVDRDI QLLCQSSGWF PRPTAKWKGP QGQDLSTDSR
TNRDMHGLFD VEISLTVQEN AGSISCSMRH AHLSREVESR VQIGDTFFEP ISWHLATKVL
GILCCGLFFG IVGLKIFFSK FQCKREREAW AGALFMVPAG TGSEMLPHPA ASLLLVLASR
GPGPKKENPG GTGLEKKART GRIERRPETR SGGDSGSRDG SPEALRF*
speed 0.39 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: 0.999999999999999 (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) chr5:180338368A>GN/A show variant in all transcripts   IGV
HGNC symbol BTNL8
Ensembl transcript ID ENST00000340184
Genbank transcript ID NM_001040462
UniProt peptide Q6UX41
alteration type single base exchange
alteration region CDS
DNA changes c.427A>G
cDNA.633A>G
g.12292A>G
AA changes T143A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 143
frameshift no
known variant Reference ID: rs2276995
databasehomozygous (G/G)heterozygousallele carriers
1000G52311201643
ExAC93361409523431
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.7990
-1.4010
(flanking)-3.6510
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 increased12290wt: 0.8637 / mu: 0.9037 (marginal change - not scored)wt: CTCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAG
mu: CTCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAG		 ccat|CACG
Acc marginally increased12293wt: 0.8593 / mu: 0.8751 (marginal change - not scored)wt: AGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGACA
mu: AGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGACA		 tcac|GGGA
Acc increased12284wt: 0.29 / mu: 0.38wt: ACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGTTG
mu: ACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTTG		 tcat|TTCC
Acc increased12283wt: 0.59 / mu: 0.70wt: CACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGTT
mu: CACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTT		 ctca|TTTC
Acc marginally increased12288wt: 0.9542 / mu: 0.9706 (marginal change - not scored)wt: GGCTCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAG
mu: GGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAG		 ttcc|ATCA
Acc increased12291wt: 0.35 / mu: 0.72wt: TCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGA
mu: TCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGA		 catc|ACGG
Acc marginally increased12300wt: 0.7056 / mu: 0.7155 (marginal change - not scored)wt: CTCATTTCCATCACGGGATATGTTGATAGAGACATCCAGCT
mu: CTCATTTCCATCGCGGGATATGTTGATAGAGACATCCAGCT		 atat|GTTG
Acc marginally increased12282wt: 0.2015 / mu: 0.2457 (marginal change - not scored)wt: GCACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGT
mu: GCACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGT		 tctc|ATTT
distance from splice site 30
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      143SALGSVPLISITGYVDRDIQLLCQ
mutated  not conserved    143SALGSVPLISIAGYVDRDIQLLC
Ptroglodytes  not conserved  ENSPTRG00000017644  143SALGSVPLISIAGYVDRDIQLLC
Mmulatta  not conserved  ENSMMUG00000019858  143SALGSVPLISIVGYVDRGIQLLC
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
18238TOPO_DOMExtracellular (Potential).lost
133222DOMAINIg-like V-type 2.lost
154154DISULFIDBy similarity.might get lost (downstream of altered splice site)
206206DISULFIDBy similarity.might get lost (downstream of altered splice site)
239259TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
260500TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
270466DOMAINB30.2/SPRY.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1503 / 1503
position (AA) of stopcodon in wt / mu AA sequence 501 / 501
position of stopcodon in wt / mu cDNA 1709 / 1709
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 207 / 207
chromosome 5
strand 1
last intron/exon boundary 1069
theoretical NMD boundary in CDS 812
length of CDS 1503
coding sequence (CDS) position 427
cDNA position
(for ins/del: last normal base / first normal base)		 633
gDNA position
(for ins/del: last normal base / first normal base)		 12292
chromosomal position
(for ins/del: last normal base / first normal base)		 180338368
original gDNA sequence snippet CAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGAC
altered gDNA sequence snippet CAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGAC
original cDNA sequence snippet CAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGAC
altered cDNA sequence snippet CAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGAC
wildtype AA sequence MALMLSLVLS LLKLGSGQWQ VFGPDKPVQA LVGEDAAFSC FLSPKTNAEA MEVRFFRGQF
SSVVHLYRDG KDQPFMQMPQ YQGRTKLVKD SIAEGRISLR LENITVLDAG LYGCRISSQS
YYQKAIWELQ VSALGSVPLI SITGYVDRDI QLLCQSSGWF PRPTAKWKGP QGQDLSTDSR
TNRDMHGLFD VEISLTVQEN AGSISCSMRH AHLSREVESR VQIGDTFFEP ISWHLATKVL
GILCCGLFFG IVGLKIFFSK FQWKIQAELD WRRKHGQAEL RDARKHAVEV TLDPETAHPK
LCVSDLKTVT HRKAPQEVPH SEKRFTRKSV VASQSFQAGK HYWEVDGGHN KRWRVGVCRD
DVDRRKEYVT LSPDHGYWVL RLNGEHLYFT LNPRFISVFP RTPPTKIGVF LDYECGTISF
FNINDQSLIY TLTCRFEGLL RPYIEYPSYN EQNGTPIVIC PVTQESEKEA SWQRASAIPE
TSNSESSSQA TTPFLPRGEM *
mutated AA sequence MALMLSLVLS LLKLGSGQWQ VFGPDKPVQA LVGEDAAFSC FLSPKTNAEA MEVRFFRGQF
SSVVHLYRDG KDQPFMQMPQ YQGRTKLVKD SIAEGRISLR LENITVLDAG LYGCRISSQS
YYQKAIWELQ VSALGSVPLI SIAGYVDRDI QLLCQSSGWF PRPTAKWKGP QGQDLSTDSR
TNRDMHGLFD VEISLTVQEN AGSISCSMRH AHLSREVESR VQIGDTFFEP ISWHLATKVL
GILCCGLFFG IVGLKIFFSK FQWKIQAELD WRRKHGQAEL RDARKHAVEV TLDPETAHPK
LCVSDLKTVT HRKAPQEVPH SEKRFTRKSV VASQSFQAGK HYWEVDGGHN KRWRVGVCRD
DVDRRKEYVT LSPDHGYWVL RLNGEHLYFT LNPRFISVFP RTPPTKIGVF LDYECGTISF
FNINDQSLIY TLTCRFEGLL RPYIEYPSYN EQNGTPIVIC PVTQESEKEA SWQRASAIPE
TSNSESSSQA TTPFLPRGEM *
speed 0.44 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: 0.999999999999999 (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) chr5:180338368A>GN/A show variant in all transcripts   IGV
HGNC symbol BTNL8
Ensembl transcript ID ENST00000400707
Genbank transcript ID NM_001159709
UniProt peptide Q6UX41
alteration type single base exchange
alteration region CDS
DNA changes c.52A>G
cDNA.319A>G
g.12292A>G
AA changes T18A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 18
frameshift no
known variant Reference ID: rs2276995
databasehomozygous (G/G)heterozygousallele carriers
1000G52311201643
ExAC93361409523431
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.7990
-1.4010
(flanking)-3.6510
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 increased12290wt: 0.8637 / mu: 0.9037 (marginal change - not scored)wt: CTCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAG
mu: CTCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAG		 ccat|CACG
Acc marginally increased12293wt: 0.8593 / mu: 0.8751 (marginal change - not scored)wt: AGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGACA
mu: AGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGACA		 tcac|GGGA
Acc increased12284wt: 0.29 / mu: 0.38wt: ACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGTTG
mu: ACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTTG		 tcat|TTCC
Acc increased12283wt: 0.59 / mu: 0.70wt: CACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGTT
mu: CACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTT		 ctca|TTTC
Acc marginally increased12288wt: 0.9542 / mu: 0.9706 (marginal change - not scored)wt: GGCTCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAG
mu: GGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAG		 ttcc|ATCA
Acc increased12291wt: 0.35 / mu: 0.72wt: TCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGA
mu: TCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGA		 catc|ACGG
Acc marginally increased12300wt: 0.7056 / mu: 0.7155 (marginal change - not scored)wt: CTCATTTCCATCACGGGATATGTTGATAGAGACATCCAGCT
mu: CTCATTTCCATCGCGGGATATGTTGATAGAGACATCCAGCT		 atat|GTTG
Acc marginally increased12282wt: 0.2015 / mu: 0.2457 (marginal change - not scored)wt: GCACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGT
mu: GCACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGT		 tctc|ATTT
distance from splice site 30
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      18KSLGSVPLISITGYVDRDIQLLCQ
mutated  not conserved    18KSLGSVPLISIAGYVDRDIQLLC
Ptroglodytes  not conserved  ENSPTRG00000017644  143SALGSVPLISIAGYVDRDIQLLC
Mmulatta  not conserved  ENSMMUG00000019858  144SALGSVPLISIVGYVDRGIQLLC
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
117SIGNALmight get lost (downstream of altered splice site)
18238TOPO_DOMExtracellular (Potential).lost
19132DOMAINIg-like V-type 1.might get lost (downstream of altered splice site)
4040DISULFIDBy similarity.might get lost (downstream of altered splice site)
103103CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
114114DISULFIDBy similarity.might get lost (downstream of altered splice site)
133222DOMAINIg-like V-type 2.might get lost (downstream of altered splice site)
154154DISULFIDBy similarity.might get lost (downstream of altered splice site)
206206DISULFIDBy similarity.might get lost (downstream of altered splice site)
239259TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
260500TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
270466DOMAINB30.2/SPRY.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1128 / 1128
position (AA) of stopcodon in wt / mu AA sequence 376 / 376
position of stopcodon in wt / mu cDNA 1395 / 1395
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 268 / 268
chromosome 5
strand 1
last intron/exon boundary 755
theoretical NMD boundary in CDS 437
length of CDS 1128
coding sequence (CDS) position 52
cDNA position
(for ins/del: last normal base / first normal base)		 319
gDNA position
(for ins/del: last normal base / first normal base)		 12292
chromosomal position
(for ins/del: last normal base / first normal base)		 180338368
original gDNA sequence snippet CAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGAC
altered gDNA sequence snippet CAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGAC
original cDNA sequence snippet CAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGAC
altered cDNA sequence snippet CAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGAC
wildtype AA sequence MWTWFVKSLG SVPLISITGY VDRDIQLLCQ SSGWFPRPTA KWKGPQGQDL STDSRTNRDM
HGLFDVEISL TVQENAGSIS CSMRHAHLSR EVESRVQIGD TFFEPISWHL ATKVLGILCC
GLFFGIVGLK IFFSKFQWKI QAELDWRRKH GQAELRDARK HAVEVTLDPE TAHPKLCVSD
LKTVTHRKAP QEVPHSEKRF TRKSVVASQS FQAGKHYWEV DGGHNKRWRV GVCRDDVDRR
KEYVTLSPDH GYWVLRLNGE HLYFTLNPRF ISVFPRTPPT KIGVFLDYEC GTISFFNIND
QSLIYTLTCR FEGLLRPYIE YPSYNEQNGT PIVICPVTQE SEKEASWQRA SAIPETSNSE
SSSQATTPFL PRGEM*
mutated AA sequence MWTWFVKSLG SVPLISIAGY VDRDIQLLCQ SSGWFPRPTA KWKGPQGQDL STDSRTNRDM
HGLFDVEISL TVQENAGSIS CSMRHAHLSR EVESRVQIGD TFFEPISWHL ATKVLGILCC
GLFFGIVGLK IFFSKFQWKI QAELDWRRKH GQAELRDARK HAVEVTLDPE TAHPKLCVSD
LKTVTHRKAP QEVPHSEKRF TRKSVVASQS FQAGKHYWEV DGGHNKRWRV GVCRDDVDRR
KEYVTLSPDH GYWVLRLNGE HLYFTLNPRF ISVFPRTPPT KIGVFLDYEC GTISFFNIND
QSLIYTLTCR FEGLLRPYIE YPSYNEQNGT PIVICPVTQE SEKEASWQRA SAIPETSNSE
SSSQATTPFL PRGEM*
speed 0.50 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: 0.999999999999999 (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) chr5:180338368A>GN/A show variant in all transcripts   IGV
HGNC symbol BTNL8
Ensembl transcript ID ENST00000508408
Genbank transcript ID NM_001159708
UniProt peptide Q6UX41
alteration type single base exchange
alteration region CDS
DNA changes c.427A>G
cDNA.464A>G
g.12292A>G
AA changes T143A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 143
frameshift no
known variant Reference ID: rs2276995
databasehomozygous (G/G)heterozygousallele carriers
1000G52311201643
ExAC93361409523431
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.7990
-1.4010
(flanking)-3.6510
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 increased12290wt: 0.8637 / mu: 0.9037 (marginal change - not scored)wt: CTCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAG
mu: CTCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAG		 ccat|CACG
Acc marginally increased12293wt: 0.8593 / mu: 0.8751 (marginal change - not scored)wt: AGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGACA
mu: AGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGACA		 tcac|GGGA
Acc increased12284wt: 0.29 / mu: 0.38wt: ACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGTTG
mu: ACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTTG		 tcat|TTCC
Acc increased12283wt: 0.59 / mu: 0.70wt: CACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGTT
mu: CACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTT		 ctca|TTTC
Acc marginally increased12288wt: 0.9542 / mu: 0.9706 (marginal change - not scored)wt: GGCTCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAG
mu: GGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAG		 ttcc|ATCA
Acc increased12291wt: 0.35 / mu: 0.72wt: TCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGA
mu: TCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGA		 catc|ACGG
Acc marginally increased12300wt: 0.7056 / mu: 0.7155 (marginal change - not scored)wt: CTCATTTCCATCACGGGATATGTTGATAGAGACATCCAGCT
mu: CTCATTTCCATCGCGGGATATGTTGATAGAGACATCCAGCT		 atat|GTTG
Acc marginally increased12282wt: 0.2015 / mu: 0.2457 (marginal change - not scored)wt: GCACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGT
mu: GCACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGT		 tctc|ATTT
distance from splice site 30
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      143SALGSVPLISITGYVDRDIQLLCQ
mutated  not conserved    143SALGSVPLISIAGYVDRDIQLLC
Ptroglodytes  not conserved  ENSPTRG00000017644  143SALGSVPLISIAGYVDRDIQLLC
Mmulatta  not conserved  ENSMMUG00000019858  143SALGSVPLISIVGYVDRGIQLLC
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
18238TOPO_DOMExtracellular (Potential).lost
133222DOMAINIg-like V-type 2.lost
154154DISULFIDBy similarity.might get lost (downstream of altered splice site)
206206DISULFIDBy similarity.might get lost (downstream of altered splice site)
239259TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
260500TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
270466DOMAINB30.2/SPRY.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1023 / 1023
position (AA) of stopcodon in wt / mu AA sequence 341 / 341
position of stopcodon in wt / mu cDNA 1060 / 1060
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 38 / 38
chromosome 5
strand 1
last intron/exon boundary 1009
theoretical NMD boundary in CDS 921
length of CDS 1023
coding sequence (CDS) position 427
cDNA position
(for ins/del: last normal base / first normal base)		 464
gDNA position
(for ins/del: last normal base / first normal base)		 12292
chromosomal position
(for ins/del: last normal base / first normal base)		 180338368
original gDNA sequence snippet CAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGAC
altered gDNA sequence snippet CAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGAC
original cDNA sequence snippet CAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGAC
altered cDNA sequence snippet CAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGAC
wildtype AA sequence MALMLSLVLS LLKLGSGQWQ VFGPDKPVQA LVGEDAAFSC FLSPKTNAEA MEVRFFRGQF
SSVVHLYRDG KDQPFMQMPQ YQGRTKLVKD SIAEGRISLR LENITVLDAG LYGCRISSQS
YYQKAIWELQ VSALGSVPLI SITGYVDRDI QLLCQSSGWF PRPTAKWKGP QGQDLSTDSR
TNRDMHGLFD VEISLTVQEN AGSISCSMRH AHLSREVESR VQIGDTFFEP ISWHLATKVL
GILCCGLFFG IVGLKIFFSK FQCKREREAW AGALFMVPAG TGSEMLPHPA ASLLLVLASR
GPGPKKLEKK ARTGRIERRP ETRSGGDSGS RDGSPEALRF *
mutated AA sequence MALMLSLVLS LLKLGSGQWQ VFGPDKPVQA LVGEDAAFSC FLSPKTNAEA MEVRFFRGQF
SSVVHLYRDG KDQPFMQMPQ YQGRTKLVKD SIAEGRISLR LENITVLDAG LYGCRISSQS
YYQKAIWELQ VSALGSVPLI SIAGYVDRDI QLLCQSSGWF PRPTAKWKGP QGQDLSTDSR
TNRDMHGLFD VEISLTVQEN AGSISCSMRH AHLSREVESR VQIGDTFFEP ISWHLATKVL
GILCCGLFFG IVGLKIFFSK FQCKREREAW AGALFMVPAG TGSEMLPHPA ASLLLVLASR
GPGPKKLEKK ARTGRIERRP ETRSGGDSGS RDGSPEALRF *
speed 1.19 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: 0.999999999999999 (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) chr5:180338368A>GN/A show variant in all transcripts   IGV
HGNC symbol BTNL8
Ensembl transcript ID ENST00000511704
Genbank transcript ID NM_001159707
UniProt peptide Q6UX41
alteration type single base exchange
alteration region CDS
DNA changes c.79A>G
cDNA.116A>G
g.12292A>G
AA changes T27A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 27
frameshift no
known variant Reference ID: rs2276995
databasehomozygous (G/G)heterozygousallele carriers
1000G52311201643
ExAC93361409523431
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.7990
-1.4010
(flanking)-3.6510
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 increased12290wt: 0.8637 / mu: 0.9037 (marginal change - not scored)wt: CTCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAG
mu: CTCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAG		 ccat|CACG
Acc marginally increased12293wt: 0.8593 / mu: 0.8751 (marginal change - not scored)wt: AGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGACA
mu: AGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGACA		 tcac|GGGA
Acc increased12284wt: 0.29 / mu: 0.38wt: ACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGTTG
mu: ACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTTG		 tcat|TTCC
Acc increased12283wt: 0.59 / mu: 0.70wt: CACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGTT
mu: CACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTT		 ctca|TTTC
Acc marginally increased12288wt: 0.9542 / mu: 0.9706 (marginal change - not scored)wt: GGCTCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAG
mu: GGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAG		 ttcc|ATCA
Acc increased12291wt: 0.35 / mu: 0.72wt: TCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGA
mu: TCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGA		 catc|ACGG
Acc marginally increased12300wt: 0.7056 / mu: 0.7155 (marginal change - not scored)wt: CTCATTTCCATCACGGGATATGTTGATAGAGACATCCAGCT
mu: CTCATTTCCATCGCGGGATATGTTGATAGAGACATCCAGCT		 atat|GTTG
Acc marginally increased12282wt: 0.2015 / mu: 0.2457 (marginal change - not scored)wt: GCACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGT
mu: GCACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGT		 tctc|ATTT
distance from splice site 30
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      27SALGSVPLISITGYVDRDIQLLCQ
mutated  not conserved    27SALGSVPLISIAGYVDRDIQLLC
Ptroglodytes  not conserved  ENSPTRG00000017644  143SALGSVPLISIAGYVDRDIQLLC
Mmulatta  not conserved  ENSMMUG00000019858  144SALGSVPLISIVGYVDRGIQLLC
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
18238TOPO_DOMExtracellular (Potential).lost
19132DOMAINIg-like V-type 1.lost
4040DISULFIDBy similarity.might get lost (downstream of altered splice site)
103103CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
114114DISULFIDBy similarity.might get lost (downstream of altered splice site)
133222DOMAINIg-like V-type 2.might get lost (downstream of altered splice site)
154154DISULFIDBy similarity.might get lost (downstream of altered splice site)
206206DISULFIDBy similarity.might get lost (downstream of altered splice site)
239259TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
260500TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
270466DOMAINB30.2/SPRY.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1155 / 1155
position (AA) of stopcodon in wt / mu AA sequence 385 / 385
position of stopcodon in wt / mu cDNA 1192 / 1192
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 38 / 38
chromosome 5
strand 1
last intron/exon boundary 552
theoretical NMD boundary in CDS 464
length of CDS 1155
coding sequence (CDS) position 79
cDNA position
(for ins/del: last normal base / first normal base)		 116
gDNA position
(for ins/del: last normal base / first normal base)		 12292
chromosomal position
(for ins/del: last normal base / first normal base)		 180338368
original gDNA sequence snippet CAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGAC
altered gDNA sequence snippet CAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGAC
original cDNA sequence snippet CAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGAC
altered cDNA sequence snippet CAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGAC
wildtype AA sequence MALMLSLVLS LLKLGSALGS VPLISITGYV DRDIQLLCQS SGWFPRPTAK WKGPQGQDLS
TDSRTNRDMH GLFDVEISLT VQENAGSISC SMRHAHLSRE VESRVQIGDT FFEPISWHLA
TKVLGILCCG LFFGIVGLKI FFSKFQWKIQ AELDWRRKHG QAELRDARKH AVEVTLDPET
AHPKLCVSDL KTVTHRKAPQ EVPHSEKRFT RKSVVASQSF QAGKHYWEVD GGHNKRWRVG
VCRDDVDRRK EYVTLSPDHG YWVLRLNGEH LYFTLNPRFI SVFPRTPPTK IGVFLDYECG
TISFFNINDQ SLIYTLTCRF EGLLRPYIEY PSYNEQNGTP IVICPVTQES EKEASWQRAS
AIPETSNSES SSQATTPFLP RGEM*
mutated AA sequence MALMLSLVLS LLKLGSALGS VPLISIAGYV DRDIQLLCQS SGWFPRPTAK WKGPQGQDLS
TDSRTNRDMH GLFDVEISLT VQENAGSISC SMRHAHLSRE VESRVQIGDT FFEPISWHLA
TKVLGILCCG LFFGIVGLKI FFSKFQWKIQ AELDWRRKHG QAELRDARKH AVEVTLDPET
AHPKLCVSDL KTVTHRKAPQ EVPHSEKRFT RKSVVASQSF QAGKHYWEVD GGHNKRWRVG
VCRDDVDRRK EYVTLSPDHG YWVLRLNGEH LYFTLNPRFI SVFPRTPPTK IGVFLDYECG
TISFFNINDQ SLIYTLTCRF EGLLRPYIEY PSYNEQNGTP IVICPVTQES EKEASWQRAS
AIPETSNSES SSQATTPFLP RGEM*
speed 0.45 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: 0.999985455419813 (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) chr5:180338368A>GN/A show variant in all transcripts   IGV
HGNC symbol BTNL8
Ensembl transcript ID ENST00000505126
Genbank transcript ID N/A
UniProt peptide Q6UX41
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.164A>G
g.12292A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2276995
databasehomozygous (G/G)heterozygousallele carriers
1000G52311201643
ExAC93361409523431
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.7990
-1.4010
(flanking)-3.6510
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -67) | splice site change before start ATG (at aa -65) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc marginally increased12290wt: 0.8637 / mu: 0.9037 (marginal change - not scored)wt: CTCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAG
mu: CTCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAG		 ccat|CACG
Acc marginally increased12293wt: 0.8593 / mu: 0.8751 (marginal change - not scored)wt: AGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGACA
mu: AGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGACA		 tcac|GGGA
Acc increased12284wt: 0.29 / mu: 0.38wt: ACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGTTG
mu: ACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTTG		 tcat|TTCC
Acc increased12283wt: 0.59 / mu: 0.70wt: CACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGTT
mu: CACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTT		 ctca|TTTC
Acc marginally increased12288wt: 0.9542 / mu: 0.9706 (marginal change - not scored)wt: GGCTCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAG
mu: GGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAG		 ttcc|ATCA
Acc increased12291wt: 0.35 / mu: 0.72wt: TCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGA
mu: TCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGA		 catc|ACGG
Acc marginally increased12300wt: 0.7056 / mu: 0.7155 (marginal change - not scored)wt: CTCATTTCCATCACGGGATATGTTGATAGAGACATCCAGCT
mu: CTCATTTCCATCGCGGGATATGTTGATAGAGACATCCAGCT		 atat|GTTG
Acc marginally increased12282wt: 0.2015 / mu: 0.2457 (marginal change - not scored)wt: GCACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGT
mu: GCACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGT		 tctc|ATTT
distance from splice site 30
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
117SIGNALmight get lost (downstream of altered splice site)
18238TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
19132DOMAINIg-like V-type 1.might get lost (downstream of altered splice site)
4040DISULFIDBy similarity.might get lost (downstream of altered splice site)
103103CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
114114DISULFIDBy similarity.might get lost (downstream of altered splice site)
133222DOMAINIg-like V-type 2.might get lost (downstream of altered splice site)
154154DISULFIDBy similarity.might get lost (downstream of altered splice site)
206206DISULFIDBy similarity.might get lost (downstream of altered splice site)
239259TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
260500TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
270466DOMAINB30.2/SPRY.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 359 / 359
chromosome 5
strand 1
last intron/exon boundary 600
theoretical NMD boundary in CDS 191
length of CDS 882
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 164
gDNA position
(for ins/del: last normal base / first normal base)		 12292
chromosomal position
(for ins/del: last normal base / first normal base)		 180338368
original gDNA sequence snippet CAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGAC
altered gDNA sequence snippet CAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGAC
original cDNA sequence snippet CAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGAC
altered cDNA sequence snippet CAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGAC
wildtype AA sequence MRHAHLSREV ESRVQIGDTF FEPISWHLAT KVLGILCCGL FFGIVGLKIF FSKFQWKIQA
ELDWRRKHGQ AELRDARKHA VEVTLDPETA HPKLCVSDLK TVTHRKAPQE VPHSEKRFTR
KSVVASQSFQ AGKHYWEVDG GHNKRWRVGV CRDDVDRRKE YVTLSPDHGY WVLRLNGEHL
YFTLNPRFIS VFPRTPPTKI GVFLDYECGT ISFFNINDQS LIYTLTCRFE GLLRPYIEYP
SYNEQNGTPI VICPVTQESE KEASWQRASA IPETSNSESS SQATTPFLPR GEM*
mutated AA sequence N/A
speed 0.85 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: 0.999985455419813 (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) chr5:180338368A>GN/A show variant in all transcripts   IGV
HGNC symbol BTNL8
Ensembl transcript ID ENST00000533815
Genbank transcript ID NM_001159710
UniProt peptide Q6UX41
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.164A>G
g.12292A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2276995
databasehomozygous (G/G)heterozygousallele carriers
1000G52311201643
ExAC93361409523431
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.7990
-1.4010
(flanking)-3.6510
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -44) | splice site change before start ATG (at aa -42) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc marginally increased12290wt: 0.8637 / mu: 0.9037 (marginal change - not scored)wt: CTCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAG
mu: CTCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAG		 ccat|CACG
Acc marginally increased12293wt: 0.8593 / mu: 0.8751 (marginal change - not scored)wt: AGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGACA
mu: AGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGACA		 tcac|GGGA
Acc increased12284wt: 0.29 / mu: 0.38wt: ACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGTTG
mu: ACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTTG		 tcat|TTCC
Acc increased12283wt: 0.59 / mu: 0.70wt: CACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGTT
mu: CACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTT		 ctca|TTTC
Acc marginally increased12288wt: 0.9542 / mu: 0.9706 (marginal change - not scored)wt: GGCTCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAG
mu: GGCTCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAG		 ttcc|ATCA
Acc increased12291wt: 0.35 / mu: 0.72wt: TCAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGA
mu: TCAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGA		 catc|ACGG
Acc marginally increased12300wt: 0.7056 / mu: 0.7155 (marginal change - not scored)wt: CTCATTTCCATCACGGGATATGTTGATAGAGACATCCAGCT
mu: CTCATTTCCATCGCGGGATATGTTGATAGAGACATCCAGCT		 atat|GTTG
Acc marginally increased12282wt: 0.2015 / mu: 0.2457 (marginal change - not scored)wt: GCACTGGGCTCAGTTCCTCTCATTTCCATCACGGGATATGT
mu: GCACTGGGCTCAGTTCCTCTCATTTCCATCGCGGGATATGT		 tctc|ATTT
distance from splice site 30
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
117SIGNALmight get lost (downstream of altered splice site)
18238TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
19132DOMAINIg-like V-type 1.might get lost (downstream of altered splice site)
4040DISULFIDBy similarity.might get lost (downstream of altered splice site)
103103CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
114114DISULFIDBy similarity.might get lost (downstream of altered splice site)
133222DOMAINIg-like V-type 2.might get lost (downstream of altered splice site)
154154DISULFIDBy similarity.might get lost (downstream of altered splice site)
206206DISULFIDBy similarity.might get lost (downstream of altered splice site)
239259TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
260500TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
270466DOMAINB30.2/SPRY.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 290 / 290
chromosome 5
strand 1
last intron/exon boundary 600
theoretical NMD boundary in CDS 260
length of CDS 951
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 164
gDNA position
(for ins/del: last normal base / first normal base)		 12292
chromosomal position
(for ins/del: last normal base / first normal base)		 180338368
original gDNA sequence snippet CAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGAC
altered gDNA sequence snippet CAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGAC
original cDNA sequence snippet CAGTTCCTCTCATTTCCATCACGGGATATGTTGATAGAGAC
altered cDNA sequence snippet CAGTTCCTCTCATTTCCATCGCGGGATATGTTGATAGAGAC
wildtype AA sequence MHGLFDVEIS LTVQENAGSI SCSMRHAHLS REVESRVQIG DTFFEPISWH LATKVLGILC
CGLFFGIVGL KIFFSKFQWK IQAELDWRRK HGQAELRDAR KHAVEVTLDP ETAHPKLCVS
DLKTVTHRKA PQEVPHSEKR FTRKSVVASQ SFQAGKHYWE VDGGHNKRWR VGVCRDDVDR
RKEYVTLSPD HGYWVLRLNG EHLYFTLNPR FISVFPRTPP TKIGVFLDYE CGTISFFNIN
DQSLIYTLTC RFEGLLRPYI EYPSYNEQNG TPIVICPVTQ ESEKEASWQR ASAIPETSNS
ESSSQATTPF LPRGEM*
mutated AA sequence N/A
speed 0.25 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