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 5.25 s - this script 5.60435 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
BTNL8polymorphism_automatic3.8968828164343e-14simple_aaeH311Dsingle base exchangers142207026show file
BTNL8polymorphism_automatic3.8968828164343e-14simple_aaeH186Dsingle base exchangers142207026show file
BTNL8polymorphism_automatic3.8968828164343e-14simple_aaeH195Dsingle base exchangers142207026show file
BTNL8polymorphism_automatic3.8968828164343e-14simple_aaeH104Dsingle base exchangers142207026show file
BTNL8polymorphism_automatic3.8968828164343e-14simple_aaeH127Dsingle base exchangers142207026show file
BTNL8polymorphism_automatic2.18681559527312e-08without_aaesingle base exchangers142207026show file
BTNL8polymorphism_automatic2.18681559527312e-08without_aaesingle base exchangers142207026show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999961 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:180376972C>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.931C>G
cDNA.1137C>G
g.50896C>G
AA changes H311D Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 311
frameshift no
known variant Reference ID: rs142207026
databasehomozygous (G/G)heterozygousallele carriers
1000G3846791063
ExAC75371287120408
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0380.004
0.1090.001
(flanking)-0.1360
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      311KLCVSDLKTVTHRKAPQEVPHSEK
mutated  not conserved    311LCVSDLKTVTDRKAPQEVPHSE
Ptroglodytes  not conserved  ENSPTRG00000017644  311LCVSNLKTVTERKAPQDVPHSE
Mmulatta  no alignment  ENSMMUG00000019858  n/a
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 
260500TOPO_DOMCytoplasmic (Potential).lost
270466DOMAINB30.2/SPRY.lost
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 931
cDNA position
(for ins/del: last normal base / first normal base)		 1137
gDNA position
(for ins/del: last normal base / first normal base)		 50896
chromosomal position
(for ins/del: last normal base / first normal base)		 180376972
original gDNA sequence snippet CTGATCTGAAAACTGTAACCCATAGAAAAGCTCCCCAGGAG
altered gDNA sequence snippet CTGATCTGAAAACTGTAACCGATAGAAAAGCTCCCCAGGAG
original cDNA sequence snippet CTGATCTGAAAACTGTAACCCATAGAAAAGCTCCCCAGGAG
altered cDNA sequence snippet CTGATCTGAAAACTGTAACCGATAGAAAAGCTCCCCAGGAG
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 SITGYVDRDI QLLCQSSGWF PRPTAKWKGP QGQDLSTDSR
TNRDMHGLFD VEISLTVQEN AGSISCSMRH AHLSREVESR VQIGDTFFEP ISWHLATKVL
GILCCGLFFG IVGLKIFFSK FQWKIQAELD WRRKHGQAEL RDARKHAVEV TLDPETAHPK
LCVSDLKTVT DRKAPQEVPH SEKRFTRKSV VASQSFQAGK HYWEVDGGHN KRWRVGVCRD
DVDRRKEYVT LSPDHGYWVL RLNGEHLYFT LNPRFISVFP RTPPTKIGVF LDYECGTISF
FNINDQSLIY TLTCRFEGLL RPYIEYPSYN EQNGTPIVIC PVTQESEKEA SWQRASAIPE
TSNSESSSQA TTPFLPRGEM *
speed 1.06 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: 0.999999999999961 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:180376972C>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.556C>G
cDNA.823C>G
g.50896C>G
AA changes H186D Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 186
frameshift no
known variant Reference ID: rs142207026
databasehomozygous (G/G)heterozygousallele carriers
1000G3846791063
ExAC75371287120408
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0380.004
0.1090.001
(flanking)-0.1360
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      186KLCVSDLKTVTHRKAPQEVPHSEK
mutated  not conserved    186LKTVTDRKAPQEVPHSE
Ptroglodytes  not conserved  ENSPTRG00000017644  311LKTVTERKAPQDVPHSE
Mmulatta  no alignment  ENSMMUG00000019858  n/a
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
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 556
cDNA position
(for ins/del: last normal base / first normal base)		 823
gDNA position
(for ins/del: last normal base / first normal base)		 50896
chromosomal position
(for ins/del: last normal base / first normal base)		 180376972
original gDNA sequence snippet CTGATCTGAAAACTGTAACCCATAGAAAAGCTCCCCAGGAG
altered gDNA sequence snippet CTGATCTGAAAACTGTAACCGATAGAAAAGCTCCCCAGGAG
original cDNA sequence snippet CTGATCTGAAAACTGTAACCCATAGAAAAGCTCCCCAGGAG
altered cDNA sequence snippet CTGATCTGAAAACTGTAACCGATAGAAAAGCTCCCCAGGAG
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 SVPLISITGY VDRDIQLLCQ SSGWFPRPTA KWKGPQGQDL STDSRTNRDM
HGLFDVEISL TVQENAGSIS CSMRHAHLSR EVESRVQIGD TFFEPISWHL ATKVLGILCC
GLFFGIVGLK IFFSKFQWKI QAELDWRRKH GQAELRDARK HAVEVTLDPE TAHPKLCVSD
LKTVTDRKAP QEVPHSEKRF TRKSVVASQS FQAGKHYWEV DGGHNKRWRV GVCRDDVDRR
KEYVTLSPDH GYWVLRLNGE HLYFTLNPRF ISVFPRTPPT KIGVFLDYEC GTISFFNIND
QSLIYTLTCR FEGLLRPYIE YPSYNEQNGT PIVICPVTQE SEKEASWQRA SAIPETSNSE
SSSQATTPFL PRGEM*
speed 0.43 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: 0.999999999999961 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:180376972C>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.583C>G
cDNA.620C>G
g.50896C>G
AA changes H195D Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 195
frameshift no
known variant Reference ID: rs142207026
databasehomozygous (G/G)heterozygousallele carriers
1000G3846791063
ExAC75371287120408
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0380.004
0.1090.001
(flanking)-0.1360
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      195KLCVSDLKTVTHRKAPQEVPHSEK
mutated  not conserved    195KLCVSDLKTVTDRKAPQEVPHSE
Ptroglodytes  not conserved  ENSPTRG00000017644  311QLCVSNLKTVTERKAPQDVPHSE
Mmulatta  no alignment  ENSMMUG00000019858  n/a
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
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 583
cDNA position
(for ins/del: last normal base / first normal base)		 620
gDNA position
(for ins/del: last normal base / first normal base)		 50896
chromosomal position
(for ins/del: last normal base / first normal base)		 180376972
original gDNA sequence snippet CTGATCTGAAAACTGTAACCCATAGAAAAGCTCCCCAGGAG
altered gDNA sequence snippet CTGATCTGAAAACTGTAACCGATAGAAAAGCTCCCCAGGAG
original cDNA sequence snippet CTGATCTGAAAACTGTAACCCATAGAAAAGCTCCCCAGGAG
altered cDNA sequence snippet CTGATCTGAAAACTGTAACCGATAGAAAAGCTCCCCAGGAG
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 VPLISITGYV DRDIQLLCQS SGWFPRPTAK WKGPQGQDLS
TDSRTNRDMH GLFDVEISLT VQENAGSISC SMRHAHLSRE VESRVQIGDT FFEPISWHLA
TKVLGILCCG LFFGIVGLKI FFSKFQWKIQ AELDWRRKHG QAELRDARKH AVEVTLDPET
AHPKLCVSDL KTVTDRKAPQ EVPHSEKRFT RKSVVASQSF QAGKHYWEVD GGHNKRWRVG
VCRDDVDRRK EYVTLSPDHG YWVLRLNGEH LYFTLNPRFI SVFPRTPPTK IGVFLDYECG
TISFFNINDQ SLIYTLTCRF EGLLRPYIEY PSYNEQNGTP IVICPVTQES EKEASWQRAS
AIPETSNSES SSQATTPFLP RGEM*
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: simple_aae, prob: 0.999999999999961 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:180376972C>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 CDS
DNA changes c.310C>G
cDNA.668C>G
g.50896C>G
AA changes H104D Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 104
frameshift no
known variant Reference ID: rs142207026
databasehomozygous (G/G)heterozygousallele carriers
1000G3846791063
ExAC75371287120408
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0380.004
0.1090.001
(flanking)-0.1360
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      104KLCVSDLKTVTHRKAPQEVPHSEK
mutated  not conserved    104KLCVSDLKTVTDRKAPQEVPHSE
Ptroglodytes  not conserved  ENSPTRG00000017644  311QLCVSNLKTVTERKAPQDVPHSE
Mmulatta  no alignment  ENSMMUG00000019858  n/a
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
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 882 / 882
position (AA) of stopcodon in wt / mu AA sequence 294 / 294
position of stopcodon in wt / mu cDNA 1240 / 1240
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 310
cDNA position
(for ins/del: last normal base / first normal base)		 668
gDNA position
(for ins/del: last normal base / first normal base)		 50896
chromosomal position
(for ins/del: last normal base / first normal base)		 180376972
original gDNA sequence snippet CTGATCTGAAAACTGTAACCCATAGAAAAGCTCCCCAGGAG
altered gDNA sequence snippet CTGATCTGAAAACTGTAACCGATAGAAAAGCTCCCCAGGAG
original cDNA sequence snippet CTGATCTGAAAACTGTAACCCATAGAAAAGCTCCCCAGGAG
altered cDNA sequence snippet CTGATCTGAAAACTGTAACCGATAGAAAAGCTCCCCAGGAG
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 MRHAHLSREV ESRVQIGDTF FEPISWHLAT KVLGILCCGL FFGIVGLKIF FSKFQWKIQA
ELDWRRKHGQ AELRDARKHA VEVTLDPETA HPKLCVSDLK TVTDRKAPQE VPHSEKRFTR
KSVVASQSFQ AGKHYWEVDG GHNKRWRVGV CRDDVDRRKE YVTLSPDHGY WVLRLNGEHL
YFTLNPRFIS VFPRTPPTKI GVFLDYECGT ISFFNINDQS LIYTLTCRFE GLLRPYIEYP
SYNEQNGTPI VICPVTQESE KEASWQRASA IPETSNSESS SQATTPFLPR GEM*
speed 0.63 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: 0.999999999999961 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:180376972C>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 CDS
DNA changes c.379C>G
cDNA.668C>G
g.50896C>G
AA changes H127D Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 127
frameshift no
known variant Reference ID: rs142207026
databasehomozygous (G/G)heterozygousallele carriers
1000G3846791063
ExAC75371287120408
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0380.004
0.1090.001
(flanking)-0.1360
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      127KLCVSDLKTVTHRKAPQEVPHSEK
mutated  not conserved    127DLKTVTDRKAPQEVPHSE
Ptroglodytes  not conserved  ENSPTRG00000017644  311NLKTVTERKAPQDVPHSE
Mmulatta  no alignment  ENSMMUG00000019858  n/a
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
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 951 / 951
position (AA) of stopcodon in wt / mu AA sequence 317 / 317
position of stopcodon in wt / mu cDNA 1240 / 1240
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 379
cDNA position
(for ins/del: last normal base / first normal base)		 668
gDNA position
(for ins/del: last normal base / first normal base)		 50896
chromosomal position
(for ins/del: last normal base / first normal base)		 180376972
original gDNA sequence snippet CTGATCTGAAAACTGTAACCCATAGAAAAGCTCCCCAGGAG
altered gDNA sequence snippet CTGATCTGAAAACTGTAACCGATAGAAAAGCTCCCCAGGAG
original cDNA sequence snippet CTGATCTGAAAACTGTAACCCATAGAAAAGCTCCCCAGGAG
altered cDNA sequence snippet CTGATCTGAAAACTGTAACCGATAGAAAAGCTCCCCAGGAG
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 MHGLFDVEIS LTVQENAGSI SCSMRHAHLS REVESRVQIG DTFFEPISWH LATKVLGILC
CGLFFGIVGL KIFFSKFQWK IQAELDWRRK HGQAELRDAR KHAVEVTLDP ETAHPKLCVS
DLKTVTDRKA PQEVPHSEKR FTRKSVVASQ SFQAGKHYWE VDGGHNKRWR VGVCRDDVDR
RKEYVTLSPD HGYWVLRLNG EHLYFTLNPR FISVFPRTPP TKIGVFLDYE CGTISFFNIN
DQSLIYTLTC RFEGLLRPYI EYPSYNEQNG TPIVICPVTQ ESEKEASWQR ASAIPETSNS
ESSSQATTPF LPRGEM*
speed 0.63 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: 0.999999978131844 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:180376972C>GN/A show variant in all transcripts   IGV
HGNC symbol BTNL8
Ensembl transcript ID ENST00000231229
Genbank transcript ID NM_024850
UniProt peptide N/A
alteration type single base exchange
alteration region 3'UTR
DNA changes cDNA.1295C>G
g.50896C>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs142207026
databasehomozygous (G/G)heterozygousallele carriers
1000G3846791063
ExAC75371287120408
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0380.004
0.1090.001
(flanking)-0.1360
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 signal is predicted to be ok
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 N/A
cDNA position
(for ins/del: last normal base / first normal base)		 1295
gDNA position
(for ins/del: last normal base / first normal base)		 50896
chromosomal position
(for ins/del: last normal base / first normal base)		 180376972
original gDNA sequence snippet CTGATCTGAAAACTGTAACCCATAGAAAAGCTCCCCAGGAG
altered gDNA sequence snippet CTGATCTGAAAACTGTAACCGATAGAAAAGCTCCCCAGGAG
original cDNA sequence snippet CTGATCTGAAAACTGTAACCCATAGAAAAGCTCCCCAGGAG
altered cDNA sequence snippet CTGATCTGAAAACTGTAACCGATAGAAAAGCTCCCCAGGAG
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 N/A
speed 0.83 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: 0.999999978131844 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:180376972C>GN/A show variant in all transcripts   IGV
HGNC symbol BTNL8
Ensembl transcript ID ENST00000508408
Genbank transcript ID NM_001159708
UniProt peptide N/A
alteration type single base exchange
alteration region 3'UTR
DNA changes cDNA.1077C>G
g.50896C>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs142207026
databasehomozygous (G/G)heterozygousallele carriers
1000G3846791063
ExAC75371287120408
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0380.004
0.1090.001
(flanking)-0.1360
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 69
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 signal is predicted to be ok
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 N/A
cDNA position
(for ins/del: last normal base / first normal base)		 1077
gDNA position
(for ins/del: last normal base / first normal base)		 50896
chromosomal position
(for ins/del: last normal base / first normal base)		 180376972
original gDNA sequence snippet CTGATCTGAAAACTGTAACCCATAGAAAAGCTCCCCAGGAG
altered gDNA sequence snippet CTGATCTGAAAACTGTAACCGATAGAAAAGCTCCCCAGGAG
original cDNA sequence snippet CTGATCTGAAAACTGTAACCCATAGAAAAGCTCCCCAGGAG
altered cDNA sequence snippet CTGATCTGAAAACTGTAACCGATAGAAAAGCTCCCCAGGAG
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 N/A
speed 0.82 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