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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000328655
Querying Taster for transcript #2: ENST00000522210
MT speed 0 s - this script 3.316708 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
PRSS55polymorphism_automatic1.47992729182533e-13simple_aaeaffectedG15Rsingle base exchangers35102108show file
PRSS55polymorphism_automatic1.47992729182533e-13simple_aaeaffectedG15Rsingle base exchangers35102108show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999852 (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) chr8:10383138G>AN/A show variant in all transcripts   IGV
HGNC symbol PRSS55
Ensembl transcript ID ENST00000328655
Genbank transcript ID NM_198464
UniProt peptide Q6UWB4
alteration type single base exchange
alteration region CDS
DNA changes c.43G>A
cDNA.83G>A
g.83G>A
AA changes G15R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 15
frameshift no
known variant Reference ID: rs35102108
databasehomozygous (A/A)heterozygousallele carriers
1000G107714821
ExAC28031919621999
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1780
-0.2120
(flanking)-0.8720
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 increased80wt: 0.2625 / mu: 0.2768 (marginal change - not scored)wt: TGCTGCTCCTGTCCCTGGTCACGGGAACTCAGCTCGGTCCA
mu: TGCTGCTCCTGTCCCTGGTCACGAGAACTCAGCTCGGTCCA		 gtca|CGGG
Acc marginally increased74wt: 0.5513 / mu: 0.6069 (marginal change - not scored)wt: CAGTGTTGCTGCTCCTGTCCCTGGTCACGGGAACTCAGCTC
mu: CAGTGTTGCTGCTCCTGTCCCTGGTCACGAGAACTCAGCTC		 tccc|TGGT
Acc marginally increased73wt: 0.5919 / mu: 0.6452 (marginal change - not scored)wt: TCAGTGTTGCTGCTCCTGTCCCTGGTCACGGGAACTCAGCT
mu: TCAGTGTTGCTGCTCCTGTCCCTGGTCACGAGAACTCAGCT		 gtcc|CTGG
Acc marginally increased83wt: 0.8782 / mu: 0.9035 (marginal change - not scored)wt: TGCTCCTGTCCCTGGTCACGGGAACTCAGCTCGGTCCACGG
mu: TGCTCCTGTCCCTGGTCACGAGAACTCAGCTCGGTCCACGG		 acgg|GAAC
Donor marginally increased81wt: 0.9855 / mu: 0.9871 (marginal change - not scored)wt: GGTCACGGGAACTCA
mu: GGTCACGAGAACTCA		 TCAC|ggga
Donor marginally increased76wt: 0.9721 / mu: 0.9769 (marginal change - not scored)wt: TCCCTGGTCACGGGA
mu: TCCCTGGTCACGAGA		 CCTG|gtca
Donor gained780.43mu: CCTGGTCACGAGAAC TGGT|cacg
distance from splice site 83
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      15FSVLLLLSLVTGTQLGPRTPLPEA
mutated  not conserved    15FSVLLLLSLVTRTQLGPRTPLPE
Ptroglodytes  all identical  ENSPTRG00000019975  15FSVLLLLSLVTGTQLGPRTPLPE
Mmulatta  not conserved  ENSMMUG00000012043  15FSVLLLLSLVTEAQLSPRTPLPE
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000034623  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0052808  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
118SIGNALPotential.lost
19326TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
68300DOMAINPeptidase S1.might get lost (downstream of altered splice site)
9393DISULFIDBy similarity.might get lost (downstream of altered splice site)
108108ACT_SITECharge relay system (By similarity).might get lost (downstream of altered splice site)
109109DISULFIDBy similarity.might get lost (downstream of altered splice site)
156156ACT_SITECharge relay system (By similarity).might get lost (downstream of altered splice site)
189189DISULFIDBy similarity.might get lost (downstream of altered splice site)
222222DISULFIDBy similarity.might get lost (downstream of altered splice site)
235235DISULFIDBy similarity.might get lost (downstream of altered splice site)
240240CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
246246DISULFIDBy similarity.might get lost (downstream of altered splice site)
250250ACT_SITECharge relay system (By similarity).might get lost (downstream of altered splice site)
256256DISULFIDBy similarity.might get lost (downstream of altered splice site)
276276DISULFIDBy similarity.might get lost (downstream of altered splice site)
327347TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
348352TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1059 / 1059
position (AA) of stopcodon in wt / mu AA sequence 353 / 353
position of stopcodon in wt / mu cDNA 1099 / 1099
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 41 / 41
chromosome 8
strand 1
last intron/exon boundary 782
theoretical NMD boundary in CDS 691
length of CDS 1059
coding sequence (CDS) position 43
cDNA position
(for ins/del: last normal base / first normal base)		 83
gDNA position
(for ins/del: last normal base / first normal base)		 83
chromosomal position
(for ins/del: last normal base / first normal base)		 10383138
original gDNA sequence snippet TGCTCCTGTCCCTGGTCACGGGAACTCAGCTCGGTCCACGG
altered gDNA sequence snippet TGCTCCTGTCCCTGGTCACGAGAACTCAGCTCGGTCCACGG
original cDNA sequence snippet TGCTCCTGTCCCTGGTCACGGGAACTCAGCTCGGTCCACGG
altered cDNA sequence snippet TGCTCCTGTCCCTGGTCACGAGAACTCAGCTCGGTCCACGG
wildtype AA sequence MLLFSVLLLL SLVTGTQLGP RTPLPEAGVA ILGRARGAHR PQPPHPPSPV SECGDRSIFE
GRTRYSRITG GMEAEVGEFP WQVSIQARSE PFCGGSILNK WWILTAAHCL YSEELFPEEL
SVVLGTNDLT SPSMEIKEVA SIILHKDFKR ANMDNDIALL LLASPIKLDD LKVPICLPTQ
PGPATWRECW VAGWGQTNAA DKNSVKTDLM KAPMVIMDWE ECSKMFPKLT KNMLCAGYKN
ESYDACKGDS GGPLVCTPEP GEKWYQVGII SWGKSCGEKN TPGIYTSLVN YNLWIEKVTQ
LEGRPFNAEK RRTSVKQKPM GSPVSGVPEP GSPRSWLLLC PLSHVLFRAI LY*
mutated AA sequence MLLFSVLLLL SLVTRTQLGP RTPLPEAGVA ILGRARGAHR PQPPHPPSPV SECGDRSIFE
GRTRYSRITG GMEAEVGEFP WQVSIQARSE PFCGGSILNK WWILTAAHCL YSEELFPEEL
SVVLGTNDLT SPSMEIKEVA SIILHKDFKR ANMDNDIALL LLASPIKLDD LKVPICLPTQ
PGPATWRECW VAGWGQTNAA DKNSVKTDLM KAPMVIMDWE ECSKMFPKLT KNMLCAGYKN
ESYDACKGDS GGPLVCTPEP GEKWYQVGII SWGKSCGEKN TPGIYTSLVN YNLWIEKVTQ
LEGRPFNAEK RRTSVKQKPM GSPVSGVPEP GSPRSWLLLC PLSHVLFRAI LY*
speed 0.84 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: 0.999999999999852 (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) chr8:10383138G>AN/A show variant in all transcripts   IGV
HGNC symbol PRSS55
Ensembl transcript ID ENST00000522210
Genbank transcript ID NM_001197020
UniProt peptide Q6UWB4
alteration type single base exchange
alteration region CDS
DNA changes c.43G>A
cDNA.83G>A
g.83G>A
AA changes G15R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 15
frameshift no
known variant Reference ID: rs35102108
databasehomozygous (A/A)heterozygousallele carriers
1000G107714821
ExAC28031919621999
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1780
-0.2120
(flanking)-0.8720
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 increased80wt: 0.2625 / mu: 0.2768 (marginal change - not scored)wt: TGCTGCTCCTGTCCCTGGTCACGGGAACTCAGCTCGGTCCA
mu: TGCTGCTCCTGTCCCTGGTCACGAGAACTCAGCTCGGTCCA		 gtca|CGGG
Acc marginally increased74wt: 0.5513 / mu: 0.6069 (marginal change - not scored)wt: CAGTGTTGCTGCTCCTGTCCCTGGTCACGGGAACTCAGCTC
mu: CAGTGTTGCTGCTCCTGTCCCTGGTCACGAGAACTCAGCTC		 tccc|TGGT
Acc marginally increased73wt: 0.5919 / mu: 0.6452 (marginal change - not scored)wt: TCAGTGTTGCTGCTCCTGTCCCTGGTCACGGGAACTCAGCT
mu: TCAGTGTTGCTGCTCCTGTCCCTGGTCACGAGAACTCAGCT		 gtcc|CTGG
Acc marginally increased83wt: 0.8782 / mu: 0.9035 (marginal change - not scored)wt: TGCTCCTGTCCCTGGTCACGGGAACTCAGCTCGGTCCACGG
mu: TGCTCCTGTCCCTGGTCACGAGAACTCAGCTCGGTCCACGG		 acgg|GAAC
Donor marginally increased81wt: 0.9855 / mu: 0.9871 (marginal change - not scored)wt: GGTCACGGGAACTCA
mu: GGTCACGAGAACTCA		 TCAC|ggga
Donor marginally increased76wt: 0.9721 / mu: 0.9769 (marginal change - not scored)wt: TCCCTGGTCACGGGA
mu: TCCCTGGTCACGAGA		 CCTG|gtca
Donor gained780.43mu: CCTGGTCACGAGAAC TGGT|cacg
distance from splice site 83
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      15FSVLLLLSLVTGTQLGPRTPLPEA
mutated  not conserved    15FSVLLLLSLVTRTQLGPRTPLPE
Ptroglodytes  all identical  ENSPTRG00000019975  15FSVLLLLSLVTGTQLGPRTPLPE
Mmulatta  not conserved  ENSMMUG00000012043  15FSVLLLLSLVTEAQLSPRTPLPE
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000034623  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0052808  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
118SIGNALPotential.lost
19326TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
68300DOMAINPeptidase S1.might get lost (downstream of altered splice site)
9393DISULFIDBy similarity.might get lost (downstream of altered splice site)
108108ACT_SITECharge relay system (By similarity).might get lost (downstream of altered splice site)
109109DISULFIDBy similarity.might get lost (downstream of altered splice site)
156156ACT_SITECharge relay system (By similarity).might get lost (downstream of altered splice site)
189189DISULFIDBy similarity.might get lost (downstream of altered splice site)
222222DISULFIDBy similarity.might get lost (downstream of altered splice site)
235235DISULFIDBy similarity.might get lost (downstream of altered splice site)
240240CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
246246DISULFIDBy similarity.might get lost (downstream of altered splice site)
250250ACT_SITECharge relay system (By similarity).might get lost (downstream of altered splice site)
256256DISULFIDBy similarity.might get lost (downstream of altered splice site)
276276DISULFIDBy similarity.might get lost (downstream of altered splice site)
327347TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
348352TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 831 / 831
position (AA) of stopcodon in wt / mu AA sequence 277 / 277
position of stopcodon in wt / mu cDNA 871 / 871
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 41 / 41
chromosome 8
strand 1
last intron/exon boundary 782
theoretical NMD boundary in CDS 691
length of CDS 831
coding sequence (CDS) position 43
cDNA position
(for ins/del: last normal base / first normal base)		 83
gDNA position
(for ins/del: last normal base / first normal base)		 83
chromosomal position
(for ins/del: last normal base / first normal base)		 10383138
original gDNA sequence snippet TGCTCCTGTCCCTGGTCACGGGAACTCAGCTCGGTCCACGG
altered gDNA sequence snippet TGCTCCTGTCCCTGGTCACGAGAACTCAGCTCGGTCCACGG
original cDNA sequence snippet TGCTCCTGTCCCTGGTCACGGGAACTCAGCTCGGTCCACGG
altered cDNA sequence snippet TGCTCCTGTCCCTGGTCACGAGAACTCAGCTCGGTCCACGG
wildtype AA sequence MLLFSVLLLL SLVTGTQLGP RTPLPEAGVA ILGRARGAHR PQPPHPPSPV SECGDRSIFE
GRTRYSRITG GMEAEVGEFP WQVSIQARSE PFCGGSILNK WWILTAAHCL YSEELFPEEL
SVVLGTNDLT SPSMEIKEVA SIILHKDFKR ANMDNDIALL LLASPIKLDD LKVPICLPTQ
PGPATWRECW VAGWGQTNAA DKNSVKTDLM KAPMVIMDWE ECSKMFPKLT KNMLCAGYKN
ESYDACKQSY FPTLQRMNTG SSQTKPPGSH TFHLQN*
mutated AA sequence MLLFSVLLLL SLVTRTQLGP RTPLPEAGVA ILGRARGAHR PQPPHPPSPV SECGDRSIFE
GRTRYSRITG GMEAEVGEFP WQVSIQARSE PFCGGSILNK WWILTAAHCL YSEELFPEEL
SVVLGTNDLT SPSMEIKEVA SIILHKDFKR ANMDNDIALL LLASPIKLDD LKVPICLPTQ
PGPATWRECW VAGWGQTNAA DKNSVKTDLM KAPMVIMDWE ECSKMFPKLT KNMLCAGYKN
ESYDACKQSY FPTLQRMNTG SSQTKPPGSH TFHLQN*
speed 0.49 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

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