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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000553780
Querying Taster for transcript #2: ENST00000554866
Querying Taster for transcript #3: ENST00000554276
Querying Taster for transcript #4: ENST00000329597
MT speed 0 s - this script 6.189487 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
SERPINA5polymorphism_automatic1.02570837046123e-07simple_aaeaffectedA55Vsingle base exchangers6118show file
SERPINA5polymorphism_automatic1.02570837046123e-07simple_aaeaffectedA55Vsingle base exchangers6118show file
SERPINA5polymorphism_automatic1.02570837046123e-07simple_aaeaffectedA55Vsingle base exchangers6118show file
SERPINA5polymorphism_automatic1.02570837046123e-07simple_aaeaffectedA55Vsingle base exchangers6118show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999897429163 (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) chr14:95053863C>TN/A show variant in all transcripts   IGV
HGNC symbol SERPINA5
Ensembl transcript ID ENST00000553780
Genbank transcript ID N/A
UniProt peptide P05154
alteration type single base exchange
alteration region CDS
DNA changes c.164C>T
cDNA.457C>T
g.26085C>T
AA changes A55V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 55
frameshift no
known variant Reference ID: rs6118
databasehomozygous (T/T)heterozygousallele carriers
1000G3087661074
ExAC23311356915900
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6530.071
0.6910.066
(flanking)0.3170.057
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased26095wt: 0.66 / mu: 0.76wt: CTCTACAGGGCCTTGGCTTCCGCTGCCCCCAGCCAGAGCAT
mu: CTCTACAGGGTCTTGGCTTCCGCTGCCCCCAGCCAGAGCAT		 ttcc|GCTG
Acc increased26078wt: 0.43 / mu: 0.47wt: GGGACTTTACCTTTGACCTCTACAGGGCCTTGGCTTCCGCT
mu: GGGACTTTACCTTTGACCTCTACAGGGTCTTGGCTTCCGCT		 ctct|ACAG
distance from splice site 181
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      55SRRDFTFDLYRALASAAPSQSIFF
mutated  not conserved    55SRRDFTFDLYRVLASAA
Ptroglodytes  all identical  ENSPTRG00000032490  55SRRDFTFDLYRALASAA
Mmulatta  all identical  ENSMMUG00000011217  55SRRDFTFDLYRALASAA
Fcatus  all identical  ENSFCAG00000010237  14DFAFDLYRALATAAPDQNIF
Mmusculus  all identical  ENSMUSG00000041550  55SSKDFAFRLYRALVSES
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 
4859HELIXlost
6567STRANDmight get lost (downstream of altered splice site)
6979HELIXmight get lost (downstream of altered splice site)
8082HELIXmight get lost (downstream of altered splice site)
8595HELIXmight get lost (downstream of altered splice site)
99101HELIXmight get lost (downstream of altered splice site)
105118HELIXmight get lost (downstream of altered splice site)
126138STRANDmight get lost (downstream of altered splice site)
143153HELIXmight get lost (downstream of altered splice site)
156160STRANDmight get lost (downstream of altered splice site)
165179HELIXmight get lost (downstream of altered splice site)
180182TURNmight get lost (downstream of altered splice site)
197206STRANDmight get lost (downstream of altered splice site)
209211STRANDmight get lost (downstream of altered splice site)
219228STRANDmight get lost (downstream of altered splice site)
221221CONFLICTQ -> L (in Ref. 9; AAB26244).might get lost (downstream of altered splice site)
230247STRANDmight get lost (downstream of altered splice site)
248248MUTAGENR->E: Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Strongly reduces the rate of thrombin inhibition in the presence of heparin.might get lost (downstream of altered splice site)
248251TURNmight get lost (downstream of altered splice site)
249249CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
252262STRANDmight get lost (downstream of altered splice site)
253253MUTAGENR->E: Inhibits strongly thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
262262CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
264270STRANDmight get lost (downstream of altered splice site)
272272MUTAGENE->K: Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
274274MUTAGENK->E: Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
275281HELIXmight get lost (downstream of altered splice site)
284293HELIXmight get lost (downstream of altered splice site)
285285MUTAGENK->E: Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Slightly reduces the rate of thrombin inhibition in the presence of heparin. Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
288288MUTAGENR->E: Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Slightly reduces the rate of thrombin inhibition in the presence of heparin. Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
289289MUTAGENK->E: Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Slightly reduces the rate of thrombin inhibition in the presence of heparin. Inhibits weakly thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
292292MUTAGENK->E: Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Slightly reduces the rate of thrombin inhibition in the presence of heparin. Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
295304STRANDmight get lost (downstream of altered splice site)
306313STRANDmight get lost (downstream of altered splice site)
314316HELIXmight get lost (downstream of altered splice site)
318321HELIXmight get lost (downstream of altered splice site)
325327HELIXmight get lost (downstream of altered splice site)
334336TURNmight get lost (downstream of altered splice site)
335335CONFLICTG -> R (in Ref. 1; AAA35688 and 9; AAB26244).might get lost (downstream of altered splice site)
338338CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
345355STRANDmight get lost (downstream of altered splice site)
359361STRANDmight get lost (downstream of altered splice site)
360360MUTAGENT->R: Inhibits heterodimer formation with TMPRSS11E.might get lost (downstream of altered splice site)
371371MUTAGENT->R: Increases inhibition of activated protein C/F5 and factor XI/F11 activities. Decreases inhibition of thrombin activity.might get lost (downstream of altered splice site)
372372MUTAGENF->P,G: Increases inhibition of thrombin activity.might get lost (downstream of altered splice site)
372375STRANDmight get lost (downstream of altered splice site)
373373MUTAGENR->P: Increases inhibition of thrombin activity. Inhibits heterodimer formation with TMPRSS11E.might get lost (downstream of altered splice site)
373374SITEReactive bond.might get lost (downstream of altered splice site)
376376MUTAGENR->P: Does not change inhibition of thrombin, activated protein C/F5 and factor XI/F11 activities.might get lost (downstream of altered splice site)
380383STRANDmight get lost (downstream of altered splice site)
381381MUTAGENR->E: Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
384384CONFLICTF -> S (in Ref. 9; AAB26244).might get lost (downstream of altered splice site)
388404STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1221 / 1221
position (AA) of stopcodon in wt / mu AA sequence 407 / 407
position of stopcodon in wt / mu cDNA 1514 / 1514
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 294 / 294
chromosome 14
strand 1
last intron/exon boundary 1332
theoretical NMD boundary in CDS 988
length of CDS 1221
coding sequence (CDS) position 164
cDNA position
(for ins/del: last normal base / first normal base)		 457
gDNA position
(for ins/del: last normal base / first normal base)		 26085
chromosomal position
(for ins/del: last normal base / first normal base)		 95053863
original gDNA sequence snippet TACCTTTGACCTCTACAGGGCCTTGGCTTCCGCTGCCCCCA
altered gDNA sequence snippet TACCTTTGACCTCTACAGGGTCTTGGCTTCCGCTGCCCCCA
original cDNA sequence snippet TACCTTTGACCTCTACAGGGCCTTGGCTTCCGCTGCCCCCA
altered cDNA sequence snippet TACCTTTGACCTCTACAGGGTCTTGGCTTCCGCTGCCCCCA
wildtype AA sequence MQLFLLLCLV LLSPQGASLH RHHPREMKKR VEDLHVGATV APSSRRDFTF DLYRALASAA
PSQSIFFSPV SISMSLAMLS LGAGSSTKMQ ILEGLGLNLQ KSSEKELHRG FQQLLQELNQ
PRDGFQLSLG NALFTDLVVD LQDTFVSAMK TLYLADTFPT NFRDSAGAMK QINDYVAKQT
KGKIVDLLKN LDSNAVVIMV NYIFFKAKWE TSFNHKGTQE QDFYVTSETV VRVPMMSRED
QYHYLLDRNL SCRVVGVPYQ GNATALFILP SEGKMQQVEN GLSEKTLRKW LKMFKKRQLE
LYLPKFSIEG SYQLEKVLPS LGISNVFTSH ADLSGISNHS NIQVSEMVHK AVVEVDESGT
RAAAATGTIF TFRSARLNSQ RLVFNRPFLM FIVDNNILFL GKVNRP*
mutated AA sequence MQLFLLLCLV LLSPQGASLH RHHPREMKKR VEDLHVGATV APSSRRDFTF DLYRVLASAA
PSQSIFFSPV SISMSLAMLS LGAGSSTKMQ ILEGLGLNLQ KSSEKELHRG FQQLLQELNQ
PRDGFQLSLG NALFTDLVVD LQDTFVSAMK TLYLADTFPT NFRDSAGAMK QINDYVAKQT
KGKIVDLLKN LDSNAVVIMV NYIFFKAKWE TSFNHKGTQE QDFYVTSETV VRVPMMSRED
QYHYLLDRNL SCRVVGVPYQ GNATALFILP SEGKMQQVEN GLSEKTLRKW LKMFKKRQLE
LYLPKFSIEG SYQLEKVLPS LGISNVFTSH ADLSGISNHS NIQVSEMVHK AVVEVDESGT
RAAAATGTIF TFRSARLNSQ RLVFNRPFLM FIVDNNILFL GKVNRP*
speed 0.47 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: 0.999999897429163 (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) chr14:95053863C>TN/A show variant in all transcripts   IGV
HGNC symbol SERPINA5
Ensembl transcript ID ENST00000554866
Genbank transcript ID N/A
UniProt peptide P05154
alteration type single base exchange
alteration region CDS
DNA changes c.164C>T
cDNA.278C>T
g.26085C>T
AA changes A55V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 55
frameshift no
known variant Reference ID: rs6118
databasehomozygous (T/T)heterozygousallele carriers
1000G3087661074
ExAC23311356915900
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6530.071
0.6910.066
(flanking)0.3170.057
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased26095wt: 0.66 / mu: 0.76wt: CTCTACAGGGCCTTGGCTTCCGCTGCCCCCAGCCAGAGCAT
mu: CTCTACAGGGTCTTGGCTTCCGCTGCCCCCAGCCAGAGCAT		 ttcc|GCTG
Acc increased26078wt: 0.43 / mu: 0.47wt: GGGACTTTACCTTTGACCTCTACAGGGCCTTGGCTTCCGCT
mu: GGGACTTTACCTTTGACCTCTACAGGGTCTTGGCTTCCGCT		 ctct|ACAG
distance from splice site 181
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      55SRRDFTFDLYRALASAAPSQSIFF
mutated  not conserved    55SRRDFTFDLYRVLASAA
Ptroglodytes  all identical  ENSPTRG00000032490  55SRRDFTFDLYRALASAA
Mmulatta  all identical  ENSMMUG00000011217  55SRRDFTFDLYRALASAA
Fcatus  all identical  ENSFCAG00000010237  14DFAFDLYRALATAAPDQNIF
Mmusculus  all identical  ENSMUSG00000041550  55SSKDFAFRLYRALVSES
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 
4859HELIXlost
6567STRANDmight get lost (downstream of altered splice site)
6979HELIXmight get lost (downstream of altered splice site)
8082HELIXmight get lost (downstream of altered splice site)
8595HELIXmight get lost (downstream of altered splice site)
99101HELIXmight get lost (downstream of altered splice site)
105118HELIXmight get lost (downstream of altered splice site)
126138STRANDmight get lost (downstream of altered splice site)
143153HELIXmight get lost (downstream of altered splice site)
156160STRANDmight get lost (downstream of altered splice site)
165179HELIXmight get lost (downstream of altered splice site)
180182TURNmight get lost (downstream of altered splice site)
197206STRANDmight get lost (downstream of altered splice site)
209211STRANDmight get lost (downstream of altered splice site)
219228STRANDmight get lost (downstream of altered splice site)
221221CONFLICTQ -> L (in Ref. 9; AAB26244).might get lost (downstream of altered splice site)
230247STRANDmight get lost (downstream of altered splice site)
248248MUTAGENR->E: Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Strongly reduces the rate of thrombin inhibition in the presence of heparin.might get lost (downstream of altered splice site)
248251TURNmight get lost (downstream of altered splice site)
249249CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
252262STRANDmight get lost (downstream of altered splice site)
253253MUTAGENR->E: Inhibits strongly thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
262262CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
264270STRANDmight get lost (downstream of altered splice site)
272272MUTAGENE->K: Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
274274MUTAGENK->E: Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
275281HELIXmight get lost (downstream of altered splice site)
284293HELIXmight get lost (downstream of altered splice site)
285285MUTAGENK->E: Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Slightly reduces the rate of thrombin inhibition in the presence of heparin. Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
288288MUTAGENR->E: Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Slightly reduces the rate of thrombin inhibition in the presence of heparin. Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
289289MUTAGENK->E: Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Slightly reduces the rate of thrombin inhibition in the presence of heparin. Inhibits weakly thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
292292MUTAGENK->E: Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Slightly reduces the rate of thrombin inhibition in the presence of heparin. Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
295304STRANDmight get lost (downstream of altered splice site)
306313STRANDmight get lost (downstream of altered splice site)
314316HELIXmight get lost (downstream of altered splice site)
318321HELIXmight get lost (downstream of altered splice site)
325327HELIXmight get lost (downstream of altered splice site)
334336TURNmight get lost (downstream of altered splice site)
335335CONFLICTG -> R (in Ref. 1; AAA35688 and 9; AAB26244).might get lost (downstream of altered splice site)
338338CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
345355STRANDmight get lost (downstream of altered splice site)
359361STRANDmight get lost (downstream of altered splice site)
360360MUTAGENT->R: Inhibits heterodimer formation with TMPRSS11E.might get lost (downstream of altered splice site)
371371MUTAGENT->R: Increases inhibition of activated protein C/F5 and factor XI/F11 activities. Decreases inhibition of thrombin activity.might get lost (downstream of altered splice site)
372372MUTAGENF->P,G: Increases inhibition of thrombin activity.might get lost (downstream of altered splice site)
372375STRANDmight get lost (downstream of altered splice site)
373373MUTAGENR->P: Increases inhibition of thrombin activity. Inhibits heterodimer formation with TMPRSS11E.might get lost (downstream of altered splice site)
373374SITEReactive bond.might get lost (downstream of altered splice site)
376376MUTAGENR->P: Does not change inhibition of thrombin, activated protein C/F5 and factor XI/F11 activities.might get lost (downstream of altered splice site)
380383STRANDmight get lost (downstream of altered splice site)
381381MUTAGENR->E: Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
384384CONFLICTF -> S (in Ref. 9; AAB26244).might get lost (downstream of altered splice site)
388404STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1221 / 1221
position (AA) of stopcodon in wt / mu AA sequence 407 / 407
position of stopcodon in wt / mu cDNA 1335 / 1335
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 115 / 115
chromosome 14
strand 1
last intron/exon boundary 1153
theoretical NMD boundary in CDS 988
length of CDS 1221
coding sequence (CDS) position 164
cDNA position
(for ins/del: last normal base / first normal base)		 278
gDNA position
(for ins/del: last normal base / first normal base)		 26085
chromosomal position
(for ins/del: last normal base / first normal base)		 95053863
original gDNA sequence snippet TACCTTTGACCTCTACAGGGCCTTGGCTTCCGCTGCCCCCA
altered gDNA sequence snippet TACCTTTGACCTCTACAGGGTCTTGGCTTCCGCTGCCCCCA
original cDNA sequence snippet TACCTTTGACCTCTACAGGGCCTTGGCTTCCGCTGCCCCCA
altered cDNA sequence snippet TACCTTTGACCTCTACAGGGTCTTGGCTTCCGCTGCCCCCA
wildtype AA sequence MQLFLLLCLV LLSPQGASLH RHHPREMKKR VEDLHVGATV APSSRRDFTF DLYRALASAA
PSQSIFFSPV SISMSLAMLS LGAGSSTKMQ ILEGLGLNLQ KSSEKELHRG FQQLLQELNQ
PRDGFQLSLG NALFTDLVVD LQDTFVSAMK TLYLADTFPT NFRDSAGAMK QINDYVAKQT
KGKIVDLLKN LDSNAVVIMV NYIFFKAKWE TSFNHKGTQE QDFYVTSETV VRVPMMSRED
QYHYLLDRNL SCRVVGVPYQ GNATALFILP SEGKMQQVEN GLSEKTLRKW LKMFKKRQLE
LYLPKFSIEG SYQLEKVLPS LGISNVFTSH ADLSGISNHS NIQVSEMVHK AVVEVDESGT
RAAAATGTIF TFRSARLNSQ RLVFNRPFLM FIVDNNILFL GKVNRP*
mutated AA sequence MQLFLLLCLV LLSPQGASLH RHHPREMKKR VEDLHVGATV APSSRRDFTF DLYRVLASAA
PSQSIFFSPV SISMSLAMLS LGAGSSTKMQ ILEGLGLNLQ KSSEKELHRG FQQLLQELNQ
PRDGFQLSLG NALFTDLVVD LQDTFVSAMK TLYLADTFPT NFRDSAGAMK QINDYVAKQT
KGKIVDLLKN LDSNAVVIMV NYIFFKAKWE TSFNHKGTQE QDFYVTSETV VRVPMMSRED
QYHYLLDRNL SCRVVGVPYQ GNATALFILP SEGKMQQVEN GLSEKTLRKW LKMFKKRQLE
LYLPKFSIEG SYQLEKVLPS LGISNVFTSH ADLSGISNHS NIQVSEMVHK AVVEVDESGT
RAAAATGTIF TFRSARLNSQ RLVFNRPFLM FIVDNNILFL GKVNRP*
speed 1.37 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: 0.999999897429163 (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) chr14:95053863C>TN/A show variant in all transcripts   IGV
HGNC symbol SERPINA5
Ensembl transcript ID ENST00000554276
Genbank transcript ID N/A
UniProt peptide P05154
alteration type single base exchange
alteration region CDS
DNA changes c.164C>T
cDNA.277C>T
g.26085C>T
AA changes A55V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 55
frameshift no
known variant Reference ID: rs6118
databasehomozygous (T/T)heterozygousallele carriers
1000G3087661074
ExAC23311356915900
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6530.071
0.6910.066
(flanking)0.3170.057
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased26095wt: 0.66 / mu: 0.76wt: CTCTACAGGGCCTTGGCTTCCGCTGCCCCCAGCCAGAGCAT
mu: CTCTACAGGGTCTTGGCTTCCGCTGCCCCCAGCCAGAGCAT		 ttcc|GCTG
Acc increased26078wt: 0.43 / mu: 0.47wt: GGGACTTTACCTTTGACCTCTACAGGGCCTTGGCTTCCGCT
mu: GGGACTTTACCTTTGACCTCTACAGGGTCTTGGCTTCCGCT		 ctct|ACAG
distance from splice site 181
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      55SRRDFTFDLYRALASAAPSQSIFF
mutated  not conserved    55SRRDFTFDLYRVLASAA
Ptroglodytes  all identical  ENSPTRG00000032490  55SRRDFTFDLYRALASAA
Mmulatta  all identical  ENSMMUG00000011217  55SRRDFTFDLYRALASAA
Fcatus  all identical  ENSFCAG00000010237  14DFAFDLYRALATAAPDQNIF
Mmusculus  all identical  ENSMUSG00000041550  55SSKDFAFRLYRALVSES
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 
4859HELIXlost
6567STRANDmight get lost (downstream of altered splice site)
6979HELIXmight get lost (downstream of altered splice site)
8082HELIXmight get lost (downstream of altered splice site)
8595HELIXmight get lost (downstream of altered splice site)
99101HELIXmight get lost (downstream of altered splice site)
105118HELIXmight get lost (downstream of altered splice site)
126138STRANDmight get lost (downstream of altered splice site)
143153HELIXmight get lost (downstream of altered splice site)
156160STRANDmight get lost (downstream of altered splice site)
165179HELIXmight get lost (downstream of altered splice site)
180182TURNmight get lost (downstream of altered splice site)
197206STRANDmight get lost (downstream of altered splice site)
209211STRANDmight get lost (downstream of altered splice site)
219228STRANDmight get lost (downstream of altered splice site)
221221CONFLICTQ -> L (in Ref. 9; AAB26244).might get lost (downstream of altered splice site)
230247STRANDmight get lost (downstream of altered splice site)
248248MUTAGENR->E: Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Strongly reduces the rate of thrombin inhibition in the presence of heparin.might get lost (downstream of altered splice site)
248251TURNmight get lost (downstream of altered splice site)
249249CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
252262STRANDmight get lost (downstream of altered splice site)
253253MUTAGENR->E: Inhibits strongly thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
262262CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
264270STRANDmight get lost (downstream of altered splice site)
272272MUTAGENE->K: Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
274274MUTAGENK->E: Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
275281HELIXmight get lost (downstream of altered splice site)
284293HELIXmight get lost (downstream of altered splice site)
285285MUTAGENK->E: Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Slightly reduces the rate of thrombin inhibition in the presence of heparin. Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
288288MUTAGENR->E: Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Slightly reduces the rate of thrombin inhibition in the presence of heparin. Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
289289MUTAGENK->E: Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Slightly reduces the rate of thrombin inhibition in the presence of heparin. Inhibits weakly thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
292292MUTAGENK->E: Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Slightly reduces the rate of thrombin inhibition in the presence of heparin. Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
295304STRANDmight get lost (downstream of altered splice site)
306313STRANDmight get lost (downstream of altered splice site)
314316HELIXmight get lost (downstream of altered splice site)
318321HELIXmight get lost (downstream of altered splice site)
325327HELIXmight get lost (downstream of altered splice site)
334336TURNmight get lost (downstream of altered splice site)
335335CONFLICTG -> R (in Ref. 1; AAA35688 and 9; AAB26244).might get lost (downstream of altered splice site)
338338CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
345355STRANDmight get lost (downstream of altered splice site)
359361STRANDmight get lost (downstream of altered splice site)
360360MUTAGENT->R: Inhibits heterodimer formation with TMPRSS11E.might get lost (downstream of altered splice site)
371371MUTAGENT->R: Increases inhibition of activated protein C/F5 and factor XI/F11 activities. Decreases inhibition of thrombin activity.might get lost (downstream of altered splice site)
372372MUTAGENF->P,G: Increases inhibition of thrombin activity.might get lost (downstream of altered splice site)
372375STRANDmight get lost (downstream of altered splice site)
373373MUTAGENR->P: Increases inhibition of thrombin activity. Inhibits heterodimer formation with TMPRSS11E.might get lost (downstream of altered splice site)
373374SITEReactive bond.might get lost (downstream of altered splice site)
376376MUTAGENR->P: Does not change inhibition of thrombin, activated protein C/F5 and factor XI/F11 activities.might get lost (downstream of altered splice site)
380383STRANDmight get lost (downstream of altered splice site)
381381MUTAGENR->E: Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
384384CONFLICTF -> S (in Ref. 9; AAB26244).might get lost (downstream of altered splice site)
388404STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1221 / 1221
position (AA) of stopcodon in wt / mu AA sequence 407 / 407
position of stopcodon in wt / mu cDNA 1334 / 1334
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 114 / 114
chromosome 14
strand 1
last intron/exon boundary 1152
theoretical NMD boundary in CDS 988
length of CDS 1221
coding sequence (CDS) position 164
cDNA position
(for ins/del: last normal base / first normal base)		 277
gDNA position
(for ins/del: last normal base / first normal base)		 26085
chromosomal position
(for ins/del: last normal base / first normal base)		 95053863
original gDNA sequence snippet TACCTTTGACCTCTACAGGGCCTTGGCTTCCGCTGCCCCCA
altered gDNA sequence snippet TACCTTTGACCTCTACAGGGTCTTGGCTTCCGCTGCCCCCA
original cDNA sequence snippet TACCTTTGACCTCTACAGGGCCTTGGCTTCCGCTGCCCCCA
altered cDNA sequence snippet TACCTTTGACCTCTACAGGGTCTTGGCTTCCGCTGCCCCCA
wildtype AA sequence MQLFLLLCLV LLSPQGASLH RHHPREMKKR VEDLHVGATV APSSRRDFTF DLYRALASAA
PSQSIFFSPV SISMSLAMLS LGAGSSTKMQ ILEGLGLNLQ KSSEKELHRG FQQLLQELNQ
PRDGFQLSLG NALFTDLVVD LQDTFVSAMK TLYLADTFPT NFRDSAGAMK QINDYVAKQT
KGKIVDLLKN LDSNAVVIMV NYIFFKAKWE TSFNHKGTQE QDFYVTSETV VRVPMMSRED
QYHYLLDRNL SCRVVGVPYQ GNATALFILP SEGKMQQVEN GLSEKTLRKW LKMFKKRQLE
LYLPKFSIEG SYQLEKVLPS LGISNVFTSH ADLSGISNHS NIQVSEMVHK AVVEVDESGT
RAAAATGTIF TFRSARLNSQ RLVFNRPFLM FIVDNNILFL GKVNRP*
mutated AA sequence MQLFLLLCLV LLSPQGASLH RHHPREMKKR VEDLHVGATV APSSRRDFTF DLYRVLASAA
PSQSIFFSPV SISMSLAMLS LGAGSSTKMQ ILEGLGLNLQ KSSEKELHRG FQQLLQELNQ
PRDGFQLSLG NALFTDLVVD LQDTFVSAMK TLYLADTFPT NFRDSAGAMK QINDYVAKQT
KGKIVDLLKN LDSNAVVIMV NYIFFKAKWE TSFNHKGTQE QDFYVTSETV VRVPMMSRED
QYHYLLDRNL SCRVVGVPYQ GNATALFILP SEGKMQQVEN GLSEKTLRKW LKMFKKRQLE
LYLPKFSIEG SYQLEKVLPS LGISNVFTSH ADLSGISNHS NIQVSEMVHK AVVEVDESGT
RAAAATGTIF TFRSARLNSQ RLVFNRPFLM FIVDNNILFL GKVNRP*
speed 1.35 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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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999897429163 (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) chr14:95053863C>TN/A show variant in all transcripts   IGV
HGNC symbol SERPINA5
Ensembl transcript ID ENST00000329597
Genbank transcript ID NM_000624
UniProt peptide P05154
alteration type single base exchange
alteration region CDS
DNA changes c.164C>T
cDNA.374C>T
g.26085C>T
AA changes A55V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 55
frameshift no
known variant Reference ID: rs6118
databasehomozygous (T/T)heterozygousallele carriers
1000G3087661074
ExAC23311356915900
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6530.071
0.6910.066
(flanking)0.3170.057
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased26095wt: 0.66 / mu: 0.76wt: CTCTACAGGGCCTTGGCTTCCGCTGCCCCCAGCCAGAGCAT
mu: CTCTACAGGGTCTTGGCTTCCGCTGCCCCCAGCCAGAGCAT		 ttcc|GCTG
Acc increased26078wt: 0.43 / mu: 0.47wt: GGGACTTTACCTTTGACCTCTACAGGGCCTTGGCTTCCGCT
mu: GGGACTTTACCTTTGACCTCTACAGGGTCTTGGCTTCCGCT		 ctct|ACAG
distance from splice site 181
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      55SRRDFTFDLYRALASAAPSQSIFF
mutated  not conserved    55SRRDFTFDLYRVLASAA
Ptroglodytes  all identical  ENSPTRG00000032490  55SRRDFTFDLYRALASAA
Mmulatta  all identical  ENSMMUG00000011217  55SRRDFTFDLYRALASAA
Fcatus  all identical  ENSFCAG00000010237  14DFAFDLYRALATAAPDQNIF
Mmusculus  all identical  ENSMUSG00000041550  55SSKDFAFRLYRALVSES
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 
4859HELIXlost
6567STRANDmight get lost (downstream of altered splice site)
6979HELIXmight get lost (downstream of altered splice site)
8082HELIXmight get lost (downstream of altered splice site)
8595HELIXmight get lost (downstream of altered splice site)
99101HELIXmight get lost (downstream of altered splice site)
105118HELIXmight get lost (downstream of altered splice site)
126138STRANDmight get lost (downstream of altered splice site)
143153HELIXmight get lost (downstream of altered splice site)
156160STRANDmight get lost (downstream of altered splice site)
165179HELIXmight get lost (downstream of altered splice site)
180182TURNmight get lost (downstream of altered splice site)
197206STRANDmight get lost (downstream of altered splice site)
209211STRANDmight get lost (downstream of altered splice site)
219228STRANDmight get lost (downstream of altered splice site)
221221CONFLICTQ -> L (in Ref. 9; AAB26244).might get lost (downstream of altered splice site)
230247STRANDmight get lost (downstream of altered splice site)
248248MUTAGENR->E: Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Strongly reduces the rate of thrombin inhibition in the presence of heparin.might get lost (downstream of altered splice site)
248251TURNmight get lost (downstream of altered splice site)
249249CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
252262STRANDmight get lost (downstream of altered splice site)
253253MUTAGENR->E: Inhibits strongly thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
262262CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
264270STRANDmight get lost (downstream of altered splice site)
272272MUTAGENE->K: Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
274274MUTAGENK->E: Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
275281HELIXmight get lost (downstream of altered splice site)
284293HELIXmight get lost (downstream of altered splice site)
285285MUTAGENK->E: Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Slightly reduces the rate of thrombin inhibition in the presence of heparin. Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
288288MUTAGENR->E: Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Slightly reduces the rate of thrombin inhibition in the presence of heparin. Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
289289MUTAGENK->E: Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Slightly reduces the rate of thrombin inhibition in the presence of heparin. Inhibits weakly thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
292292MUTAGENK->E: Does not change the rate of thrombin or activated protein C/F5 inhibition in the presence or absence of heparin. Slightly reduces the rate of thrombin inhibition in the presence of heparin. Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
295304STRANDmight get lost (downstream of altered splice site)
306313STRANDmight get lost (downstream of altered splice site)
314316HELIXmight get lost (downstream of altered splice site)
318321HELIXmight get lost (downstream of altered splice site)
325327HELIXmight get lost (downstream of altered splice site)
334336TURNmight get lost (downstream of altered splice site)
335335CONFLICTG -> R (in Ref. 1; AAA35688 and 9; AAB26244).might get lost (downstream of altered splice site)
338338CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
345355STRANDmight get lost (downstream of altered splice site)
359361STRANDmight get lost (downstream of altered splice site)
360360MUTAGENT->R: Inhibits heterodimer formation with TMPRSS11E.might get lost (downstream of altered splice site)
371371MUTAGENT->R: Increases inhibition of activated protein C/F5 and factor XI/F11 activities. Decreases inhibition of thrombin activity.might get lost (downstream of altered splice site)
372372MUTAGENF->P,G: Increases inhibition of thrombin activity.might get lost (downstream of altered splice site)
372375STRANDmight get lost (downstream of altered splice site)
373373MUTAGENR->P: Increases inhibition of thrombin activity. Inhibits heterodimer formation with TMPRSS11E.might get lost (downstream of altered splice site)
373374SITEReactive bond.might get lost (downstream of altered splice site)
376376MUTAGENR->P: Does not change inhibition of thrombin, activated protein C/F5 and factor XI/F11 activities.might get lost (downstream of altered splice site)
380383STRANDmight get lost (downstream of altered splice site)
381381MUTAGENR->E: Does not inhibit thrombomodulin- enhanced rate of thrombin inhibition in presence of heparin.might get lost (downstream of altered splice site)
384384CONFLICTF -> S (in Ref. 9; AAB26244).might get lost (downstream of altered splice site)
388404STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1221 / 1221
position (AA) of stopcodon in wt / mu AA sequence 407 / 407
position of stopcodon in wt / mu cDNA 1431 / 1431
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 211 / 211
chromosome 14
strand 1
last intron/exon boundary 1249
theoretical NMD boundary in CDS 988
length of CDS 1221
coding sequence (CDS) position 164
cDNA position
(for ins/del: last normal base / first normal base)		 374
gDNA position
(for ins/del: last normal base / first normal base)		 26085
chromosomal position
(for ins/del: last normal base / first normal base)		 95053863
original gDNA sequence snippet TACCTTTGACCTCTACAGGGCCTTGGCTTCCGCTGCCCCCA
altered gDNA sequence snippet TACCTTTGACCTCTACAGGGTCTTGGCTTCCGCTGCCCCCA
original cDNA sequence snippet TACCTTTGACCTCTACAGGGCCTTGGCTTCCGCTGCCCCCA
altered cDNA sequence snippet TACCTTTGACCTCTACAGGGTCTTGGCTTCCGCTGCCCCCA
wildtype AA sequence MQLFLLLCLV LLSPQGASLH RHHPREMKKR VEDLHVGATV APSSRRDFTF DLYRALASAA
PSQSIFFSPV SISMSLAMLS LGAGSSTKMQ ILEGLGLNLQ KSSEKELHRG FQQLLQELNQ
PRDGFQLSLG NALFTDLVVD LQDTFVSAMK TLYLADTFPT NFRDSAGAMK QINDYVAKQT
KGKIVDLLKN LDSNAVVIMV NYIFFKAKWE TSFNHKGTQE QDFYVTSETV VRVPMMSRED
QYHYLLDRNL SCRVVGVPYQ GNATALFILP SEGKMQQVEN GLSEKTLRKW LKMFKKRQLE
LYLPKFSIEG SYQLEKVLPS LGISNVFTSH ADLSGISNHS NIQVSEMVHK AVVEVDESGT
RAAAATGTIF TFRSARLNSQ RLVFNRPFLM FIVDNNILFL GKVNRP*
mutated AA sequence MQLFLLLCLV LLSPQGASLH RHHPREMKKR VEDLHVGATV APSSRRDFTF DLYRVLASAA
PSQSIFFSPV SISMSLAMLS LGAGSSTKMQ ILEGLGLNLQ KSSEKELHRG FQQLLQELNQ
PRDGFQLSLG NALFTDLVVD LQDTFVSAMK TLYLADTFPT NFRDSAGAMK QINDYVAKQT
KGKIVDLLKN LDSNAVVIMV NYIFFKAKWE TSFNHKGTQE QDFYVTSETV VRVPMMSRED
QYHYLLDRNL SCRVVGVPYQ GNATALFILP SEGKMQQVEN GLSEKTLRKW LKMFKKRQLE
LYLPKFSIEG SYQLEKVLPS LGISNVFTSH ADLSGISNHS NIQVSEMVHK AVVEVDESGT
RAAAATGTIF TFRSARLNSQ RLVFNRPFLM FIVDNNILFL GKVNRP*
speed 1.40 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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