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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000377203
Querying Taster for transcript #2: ENST00000539718
Querying Taster for transcript #3: ENST00000293396
Querying Taster for transcript #4: ENST00000586233
Querying Taster for transcript #5: ENST00000317310
MT speed 0 s - this script 4.821479 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CD300LGpolymorphism_automatic1.19904086659517e-14simple_aaeT194Asingle base exchangers12453522show file
CD300LGpolymorphism_automatic2.89768209427166e-14simple_aaeT143Asingle base exchangers12453522show file
CD300LGpolymorphism_automatic2.89768209427166e-14simple_aaeT143Asingle base exchangers12453522show file
CD300LGpolymorphism_automatic2.94986257642904e-13simple_aaeT228Asingle base exchangers12453522show file
CD300LGpolymorphism_automatic2.94986257642904e-13simple_aaeT228Asingle base exchangers12453522show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999988 (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) chr17:41931375A>GN/A show variant in all transcripts   IGV
HGNC symbol CD300LG
Ensembl transcript ID ENST00000377203
Genbank transcript ID NM_001168323
UniProt peptide Q6UXG3
alteration type single base exchange
alteration region CDS
DNA changes c.580A>G
cDNA.649A>G
g.6860A>G
AA changes T194A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
194
frameshift no
known variant Reference ID: rs12453522
databasehomozygous (G/G)heterozygousallele carriers
1000G239675914
ExAC28091571518524
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1940.002
-0.9520
(flanking)1.1780.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6853wt: 0.7143 / mu: 0.7450 (marginal change - not scored)wt: TCAGCAGAGGACACC
mu: TCAGCAGAGGACGCC
 AGCA|gagg
distance from splice site 38
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      194PMQLDSTSAEDTSPALSSGSSKPR
mutated  not conserved    194PMQLDSTSAEDASPALSSGSSKP
Ptroglodytes  not conserved  ENSPTRG00000009253  228PMQLDSTSAEDASPALSSGSSKP
Mmulatta  not conserved  ENSMMUG00000013263  143PKQLDSTSAEDASPALSSGSSKP
Fcatus  all identical  ENSFCAG00000009914  101PAWTEDTRLA-PSRTSLS
Mmusculus  not conserved  ENSMUSG00000017309  270VVWLPLTTPQD-SRAVASSVSKP
Ggallus  not conserved  ENSGALG00000007713  181------TSPEDLSEEQLDVVTGILIP
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
19247TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 822 / 822
position (AA) of stopcodon in wt / mu AA sequence 274 / 274
position of stopcodon in wt / mu cDNA 891 / 891
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 70 / 70
chromosome 17
strand 1
last intron/exon boundary 853
theoretical NMD boundary in CDS 733
length of CDS 822
coding sequence (CDS) position 580
cDNA position
(for ins/del: last normal base / first normal base)
649
gDNA position
(for ins/del: last normal base / first normal base)
6860
chromosomal position
(for ins/del: last normal base / first normal base)
41931375
original gDNA sequence snippet ACTCCACCTCAGCAGAGGACACCAGTCCAGCTCTCAGCAGT
altered gDNA sequence snippet ACTCCACCTCAGCAGAGGACGCCAGTCCAGCTCTCAGCAGT
original cDNA sequence snippet ACTCCACCTCAGCAGAGGACACCAGTCCAGCTCTCAGCAGT
altered cDNA sequence snippet ACTCCACCTCAGCAGAGGACGCCAGTCCAGCTCTCAGCAGT
wildtype AA sequence MRLLVLLWGC LLLPGYEALE GPEEISGFEG DTVSLQCTYR EELRDHRKYW CRKGGILFSR
CSGTIYAEEE GQETMKGRVS IRDSRQELSL IVTLWNLTLQ DAGEYWCGVE KRGPDESLLI
SLFVFPASPG LYPAATTAKQ GKTGAEAPPL PGTSQYGHER TSQYTGTSPH PATSPPAGSS
RPPMQLDSTS AEDTSPALSS GSSKPRVSIP MVRILAPVLV LLSLLSAAGL IAFCSHLLLW
RKEAQQATET QRNEKFCLSR LNSLMFSLSL PWL*
mutated AA sequence MRLLVLLWGC LLLPGYEALE GPEEISGFEG DTVSLQCTYR EELRDHRKYW CRKGGILFSR
CSGTIYAEEE GQETMKGRVS IRDSRQELSL IVTLWNLTLQ DAGEYWCGVE KRGPDESLLI
SLFVFPASPG LYPAATTAKQ GKTGAEAPPL PGTSQYGHER TSQYTGTSPH PATSPPAGSS
RPPMQLDSTS AEDASPALSS GSSKPRVSIP MVRILAPVLV LLSLLSAAGL IAFCSHLLLW
RKEAQQATET QRNEKFCLSR LNSLMFSLSL PWL*
speed 1.10 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: 0.999999999999971 (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) chr17:41931375A>GN/A show variant in all transcripts   IGV
HGNC symbol CD300LG
Ensembl transcript ID ENST00000293396
Genbank transcript ID NM_001168324
UniProt peptide Q6UXG3
alteration type single base exchange
alteration region CDS
DNA changes c.427A>G
cDNA.488A>G
g.6860A>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: rs12453522
databasehomozygous (G/G)heterozygousallele carriers
1000G239675914
ExAC28091571518524
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1940.002
-0.9520
(flanking)1.1780.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6853wt: 0.7143 / mu: 0.7450 (marginal change - not scored)wt: TCAGCAGAGGACACC
mu: TCAGCAGAGGACGCC
 AGCA|gagg
distance from splice site 38
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      143PMQLDSTSAEDTSPALSSGSSKPR
mutated  not conserved    143PMQLDSTSAEDASPALSSGSSKP
Ptroglodytes  not conserved  ENSPTRG00000009253  228PMQLDSTSAEDASPALSSGSSKP
Mmulatta  not conserved  ENSMMUG00000013263  143PKQLDSTSAEDASPALSSGSSKP
Fcatus  all identical  ENSFCAG00000009914  101STQPEPAWTEDTRLA-PSRTSLS
Mmusculus  not conserved  ENSMUSG00000017309  270VVWLPLTTPQD-SRAVASSVSKP
Ggallus  no alignment  ENSGALG00000007713  n/a
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
19247TOPO_DOMExtracellular (Potential).lost
143143CARBOHYDO-linked (GalNAc...) (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 702 / 702
position (AA) of stopcodon in wt / mu AA sequence 234 / 234
position of stopcodon in wt / mu cDNA 763 / 763
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 62 / 62
chromosome 17
strand 1
last intron/exon boundary 692
theoretical NMD boundary in CDS 580
length of CDS 702
coding sequence (CDS) position 427
cDNA position
(for ins/del: last normal base / first normal base)
488
gDNA position
(for ins/del: last normal base / first normal base)
6860
chromosomal position
(for ins/del: last normal base / first normal base)
41931375
original gDNA sequence snippet ACTCCACCTCAGCAGAGGACACCAGTCCAGCTCTCAGCAGT
altered gDNA sequence snippet ACTCCACCTCAGCAGAGGACGCCAGTCCAGCTCTCAGCAGT
original cDNA sequence snippet ACTCCACCTCAGCAGAGGACACCAGTCCAGCTCTCAGCAGT
altered cDNA sequence snippet ACTCCACCTCAGCAGAGGACGCCAGTCCAGCTCTCAGCAGT
wildtype AA sequence MRLLVLLWGC LLLPGYEALE GPEEISGFEG DTVSLQCTYR EELRDHRKYW CRKGGILFSR
CSGTIYAEEE GQETMKGRVS IRDSRQELSL IVTLWNLTLQ DAGEYWCGVE KRGPDESLLI
SLFVFPGSSR PPMQLDSTSA EDTSPALSSG SSKPRVSIPM VRILAPVLVL LSLLSAAGLI
AFCSHLLLWR KEAQQATETQ RNEKFCLSRL NHRTSELDPD EAFEISSLTF LSV*
mutated AA sequence MRLLVLLWGC LLLPGYEALE GPEEISGFEG DTVSLQCTYR EELRDHRKYW CRKGGILFSR
CSGTIYAEEE GQETMKGRVS IRDSRQELSL IVTLWNLTLQ DAGEYWCGVE KRGPDESLLI
SLFVFPGSSR PPMQLDSTSA EDASPALSSG SSKPRVSIPM VRILAPVLVL LSLLSAAGLI
AFCSHLLLWR KEAQQATETQ RNEKFCLSRL NHRTSELDPD EAFEISSLTF LSV*
speed 0.61 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: 0.999999999999971 (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) chr17:41931375A>GN/A show variant in all transcripts   IGV
HGNC symbol CD300LG
Ensembl transcript ID ENST00000586233
Genbank transcript ID N/A
UniProt peptide Q6UXG3
alteration type single base exchange
alteration region CDS
DNA changes c.427A>G
cDNA.488A>G
g.6860A>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: rs12453522
databasehomozygous (G/G)heterozygousallele carriers
1000G239675914
ExAC28091571518524
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1940.002
-0.9520
(flanking)1.1780.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6853wt: 0.7143 / mu: 0.7450 (marginal change - not scored)wt: TCAGCAGAGGACACC
mu: TCAGCAGAGGACGCC
 AGCA|gagg
distance from splice site 38
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      143PMQLDSTSAEDTSPALSSGSSKPR
mutated  not conserved    143PMQLDSTSAEDASPALSSGSSKP
Ptroglodytes  not conserved  ENSPTRG00000009253  228PMQLDSTSAEDASPALSSGSSKP
Mmulatta  not conserved  ENSMMUG00000013263  143PKQLDSTSAEDASPALSSGSSKP
Fcatus  all identical  ENSFCAG00000009914  101STQPEPAWTEDTRLA-PSRTSLS
Mmusculus  not conserved  ENSMUSG00000017309  270VVWLPLTTPQD-SRAVASSVSKP
Ggallus  no alignment  ENSGALG00000007713  n/a
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
19247TOPO_DOMExtracellular (Potential).lost
143143CARBOHYDO-linked (GalNAc...) (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 669 / 669
position (AA) of stopcodon in wt / mu AA sequence 223 / 223
position of stopcodon in wt / mu cDNA 730 / 730
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 62 / 62
chromosome 17
strand 1
last intron/exon boundary 692
theoretical NMD boundary in CDS 580
length of CDS 669
coding sequence (CDS) position 427
cDNA position
(for ins/del: last normal base / first normal base)
488
gDNA position
(for ins/del: last normal base / first normal base)
6860
chromosomal position
(for ins/del: last normal base / first normal base)
41931375
original gDNA sequence snippet ACTCCACCTCAGCAGAGGACACCAGTCCAGCTCTCAGCAGT
altered gDNA sequence snippet ACTCCACCTCAGCAGAGGACGCCAGTCCAGCTCTCAGCAGT
original cDNA sequence snippet ACTCCACCTCAGCAGAGGACACCAGTCCAGCTCTCAGCAGT
altered cDNA sequence snippet ACTCCACCTCAGCAGAGGACGCCAGTCCAGCTCTCAGCAGT
wildtype AA sequence MRLLVLLWGC LLLPGYEALE GPEEISGFEG DTVSLQCTYR EELRDHRKYW CRKGGILFSR
CSGTIYAEEE GQETMKGRVS IRDSRQELSL IVTLWNLTLQ DAGEYWCGVE KRGPDESLLI
SLFVFPGSSR PPMQLDSTSA EDTSPALSSG SSKPRVSIPM VRILAPVLVL LSLLSAAGLI
AFCSHLLLWR KEAQQATETQ RNEKFCLSRL NSLMFSLSLP WL*
mutated AA sequence MRLLVLLWGC LLLPGYEALE GPEEISGFEG DTVSLQCTYR EELRDHRKYW CRKGGILFSR
CSGTIYAEEE GQETMKGRVS IRDSRQELSL IVTLWNLTLQ DAGEYWCGVE KRGPDESLLI
SLFVFPGSSR PPMQLDSTSA EDASPALSSG SSKPRVSIPM VRILAPVLVL LSLLSAAGLI
AFCSHLLLWR KEAQQATETQ RNEKFCLSRL NSLMFSLSLP WL*
speed 0.54 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: 0.999999999999705 (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) chr17:41931375A>GN/A show variant in all transcripts   IGV
HGNC symbol CD300LG
Ensembl transcript ID ENST00000539718
Genbank transcript ID NM_001168322
UniProt peptide Q6UXG3
alteration type single base exchange
alteration region CDS
DNA changes c.682A>G
cDNA.751A>G
g.6860A>G
AA changes T228A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
228
frameshift no
known variant Reference ID: rs12453522
databasehomozygous (G/G)heterozygousallele carriers
1000G239675914
ExAC28091571518524
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1940.002
-0.9520
(flanking)1.1780.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6853wt: 0.7143 / mu: 0.7450 (marginal change - not scored)wt: TCAGCAGAGGACACC
mu: TCAGCAGAGGACGCC
 AGCA|gagg
distance from splice site 38
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      228PMQLDSTSAEDTSPALSSGSSKPR
mutated  not conserved    228PMQLDSTSAEDASPALSSGSSKP
Ptroglodytes  not conserved  ENSPTRG00000009253  228PMQLDSTSAEDASPALSSGSSKP
Mmulatta  not conserved  ENSMMUG00000013263  143PKQLDSTSAEDASPALSSGSSKP
Fcatus  all identical  ENSFCAG00000009914  101STQPEPAWTEDTRLA-PSRTSLS
Mmusculus  not conserved  ENSMUSG00000017309  270VVWLPLTTPQD-SRAVASSVSKP
Ggallus  all identical  ENSGALG00000007713  163QQETAKQTARPTSPEDLSEEQLD
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
19247TOPO_DOMExtracellular (Potential).lost
228228CARBOHYDO-linked (GalNAc...) (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 924 / 924
position (AA) of stopcodon in wt / mu AA sequence 308 / 308
position of stopcodon in wt / mu cDNA 993 / 993
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 70 / 70
chromosome 17
strand 1
last intron/exon boundary 955
theoretical NMD boundary in CDS 835
length of CDS 924
coding sequence (CDS) position 682
cDNA position
(for ins/del: last normal base / first normal base)
751
gDNA position
(for ins/del: last normal base / first normal base)
6860
chromosomal position
(for ins/del: last normal base / first normal base)
41931375
original gDNA sequence snippet ACTCCACCTCAGCAGAGGACACCAGTCCAGCTCTCAGCAGT
altered gDNA sequence snippet ACTCCACCTCAGCAGAGGACGCCAGTCCAGCTCTCAGCAGT
original cDNA sequence snippet ACTCCACCTCAGCAGAGGACACCAGTCCAGCTCTCAGCAGT
altered cDNA sequence snippet ACTCCACCTCAGCAGAGGACGCCAGTCCAGCTCTCAGCAGT
wildtype AA sequence MRLLVLLWGC LLLPGYEALE GPEEISGFEG DTVSLQCTYR EELRDHRKYW CRKGGILFSR
CSGTIYAEEE GQETMKGRVS IRDSRQELSL IVTLWNLTLQ DAGEYWCGVE KRGPDESLLI
SLFVFPGPCC PPSPSPTFQP LATTRLQPKA KAQQTQPPGL TSPGLYPAAT TAKQGKTGAE
APPLPGTSQY GHERTSQYTG TSPHPATSPP AGSSRPPMQL DSTSAEDTSP ALSSGSSKPR
VSIPMVRILA PVLVLLSLLS AAGLIAFCSH LLLWRKEAQQ ATETQRNEKF CLSRLNSLMF
SLSLPWL*
mutated AA sequence MRLLVLLWGC LLLPGYEALE GPEEISGFEG DTVSLQCTYR EELRDHRKYW CRKGGILFSR
CSGTIYAEEE GQETMKGRVS IRDSRQELSL IVTLWNLTLQ DAGEYWCGVE KRGPDESLLI
SLFVFPGPCC PPSPSPTFQP LATTRLQPKA KAQQTQPPGL TSPGLYPAAT TAKQGKTGAE
APPLPGTSQY GHERTSQYTG TSPHPATSPP AGSSRPPMQL DSTSAEDASP ALSSGSSKPR
VSIPMVRILA PVLVLLSLLS AAGLIAFCSH LLLWRKEAQQ ATETQRNEKF CLSRLNSLMF
SLSLPWL*
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: 0.999999999999705 (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) chr17:41931375A>GN/A show variant in all transcripts   IGV
HGNC symbol CD300LG
Ensembl transcript ID ENST00000317310
Genbank transcript ID NM_145273
UniProt peptide Q6UXG3
alteration type single base exchange
alteration region CDS
DNA changes c.682A>G
cDNA.723A>G
g.6860A>G
AA changes T228A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS
228
frameshift no
known variant Reference ID: rs12453522
databasehomozygous (G/G)heterozygousallele carriers
1000G239675914
ExAC28091571518524
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1940.002
-0.9520
(flanking)1.1780.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6853wt: 0.7143 / mu: 0.7450 (marginal change - not scored)wt: TCAGCAGAGGACACC
mu: TCAGCAGAGGACGCC
 AGCA|gagg
distance from splice site 38
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      228PMQLDSTSAEDTSPALSSGSSKPR
mutated  not conserved    228PMQLDSTSAEDASPALSSGSSKP
Ptroglodytes  not conserved  ENSPTRG00000009253  228PMQLDSTSAEDASPALSSGSSKP
Mmulatta  not conserved  ENSMMUG00000013263  143PKQLDSTSAEDASPALSSGSSKP
Fcatus  all identical  ENSFCAG00000009914  101STQPEPAWTEDTRLA-PSRTSLS
Mmusculus  not conserved  ENSMUSG00000017309  270VVWLPLTTPQD-SRAVASSVSKP
Ggallus  all identical  ENSGALG00000007713  163QQETAKQTARPTSPEDLSEEQLD
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
19247TOPO_DOMExtracellular (Potential).lost
228228CARBOHYDO-linked (GalNAc...) (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 999 / 999
position (AA) of stopcodon in wt / mu AA sequence 333 / 333
position of stopcodon in wt / mu cDNA 1040 / 1040
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 42 / 42
chromosome 17
strand 1
last intron/exon boundary 927
theoretical NMD boundary in CDS 835
length of CDS 999
coding sequence (CDS) position 682
cDNA position
(for ins/del: last normal base / first normal base)
723
gDNA position
(for ins/del: last normal base / first normal base)
6860
chromosomal position
(for ins/del: last normal base / first normal base)
41931375
original gDNA sequence snippet ACTCCACCTCAGCAGAGGACACCAGTCCAGCTCTCAGCAGT
altered gDNA sequence snippet ACTCCACCTCAGCAGAGGACGCCAGTCCAGCTCTCAGCAGT
original cDNA sequence snippet ACTCCACCTCAGCAGAGGACACCAGTCCAGCTCTCAGCAGT
altered cDNA sequence snippet ACTCCACCTCAGCAGAGGACGCCAGTCCAGCTCTCAGCAGT
wildtype AA sequence MRLLVLLWGC LLLPGYEALE GPEEISGFEG DTVSLQCTYR EELRDHRKYW CRKGGILFSR
CSGTIYAEEE GQETMKGRVS IRDSRQELSL IVTLWNLTLQ DAGEYWCGVE KRGPDESLLI
SLFVFPGPCC PPSPSPTFQP LATTRLQPKA KAQQTQPPGL TSPGLYPAAT TAKQGKTGAE
APPLPGTSQY GHERTSQYTG TSPHPATSPP AGSSRPPMQL DSTSAEDTSP ALSSGSSKPR
VSIPMVRILA PVLVLLSLLS AAGLIAFCSH LLLWRKEAQQ ATETQRNEKF CLSRLTAEEK
EAPSQAPEGD VISMPPLHTS EEELGFSKFV SA*
mutated AA sequence MRLLVLLWGC LLLPGYEALE GPEEISGFEG DTVSLQCTYR EELRDHRKYW CRKGGILFSR
CSGTIYAEEE GQETMKGRVS IRDSRQELSL IVTLWNLTLQ DAGEYWCGVE KRGPDESLLI
SLFVFPGPCC PPSPSPTFQP LATTRLQPKA KAQQTQPPGL TSPGLYPAAT TAKQGKTGAE
APPLPGTSQY GHERTSQYTG TSPHPATSPP AGSSRPPMQL DSTSAEDASP ALSSGSSKPR
VSIPMVRILA PVLVLLSLLS AAGLIAFCSH LLLWRKEAQQ ATETQRNEKF CLSRLTAEEK
EAPSQAPEGD VISMPPLHTS EEELGFSKFV SA*
speed 0.54 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