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 9 transcript(s)...
Querying Taster for transcript #1: ENST00000440909
Querying Taster for transcript #2: ENST00000393087
Querying Taster for transcript #3: ENST00000393088
Querying Taster for transcript #4: ENST00000404814
Querying Taster for transcript #5: ENST00000449399
Querying Taster for transcript #6: ENST00000402629
Querying Taster for transcript #7: ENST00000448921
Querying Taster for transcript #8: ENST00000437397
Querying Taster for transcript #9: ENST00000355814
MT speed 0 s - this script 3.184059 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
SERPINA1polymorphism_automatic9.99200722162641e-16simple_aaeaffectedV237Asingle base exchangers6647show file
SERPINA1polymorphism_automatic9.99200722162641e-16simple_aaeaffectedV237Asingle base exchangers6647show file
SERPINA1polymorphism_automatic9.99200722162641e-16simple_aaeaffectedV237Asingle base exchangers6647show file
SERPINA1polymorphism_automatic9.99200722162641e-16simple_aaeaffectedV237Asingle base exchangers6647show file
SERPINA1polymorphism_automatic9.99200722162641e-16simple_aaeaffectedV237Asingle base exchangers6647show file
SERPINA1polymorphism_automatic9.99200722162641e-16simple_aaeaffectedV237Asingle base exchangers6647show file
SERPINA1polymorphism_automatic9.99200722162641e-16simple_aaeaffectedV237Asingle base exchangers6647show file
SERPINA1polymorphism_automatic9.99200722162641e-16simple_aaeaffectedV237Asingle base exchangers6647show file
SERPINA1polymorphism_automatic9.99200722162641e-16simple_aaeaffectedV237Asingle base exchangers6647show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM176333)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:94847415A>GN/A show variant in all transcripts   IGV
HGNC symbol SERPINA1
Ensembl transcript ID ENST00000440909
Genbank transcript ID NM_001002235
UniProt peptide P01009
alteration type single base exchange
alteration region CDS
DNA changes c.710T>C
cDNA.895T>C
g.9616T>C
AA changes V237A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 237
frameshift no
known variant Reference ID: rs6647
databasehomozygous (G/G)heterozygousallele carriers
1000G298653951
ExAC39061892222828

known disease mutation at this position, please check HGMD for details (HGMD ID CM176333)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.3760.001
-1.010
(flanking)-1.0310
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 increased9614wt: 0.5398 / mu: 0.5844 (marginal change - not scored)wt: GACCAGGTGACCACC
mu: GACCAGGCGACCACC		 CCAG|gtga
Donor increased9613wt: 0.70 / mu: 0.89wt: GGACCAGGTGACCAC
mu: GGACCAGGCGACCAC		 ACCA|ggtg
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      237DTEEEDFHVDQVTTVKVPMMKRLG
mutated  not conserved    237DTEEEDFHVDQATTV
Ptroglodytes  not conserved  ENSPTRG00000023666  237DTEEEDFHVDQATTV
Mmulatta  not conserved  ENSMMUG00000020426  237ATKEEDFHVDQATTV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021081  231SVKVKDYHLGYGMT
Ggallus  not conserved  ENSGALG00000010969  238NTEEREFFVDAETTVKVPMMCR
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000023329  257FTQDGIFHVDENTNVTVPMMRRN
protein features
start (aa)end (aa)featuredetails 
238256STRANDmight get lost (downstream of altered splice site)
256256MOD_RESS-cysteinyl cysteine.might get lost (downstream of altered splice site)
257260TURNmight get lost (downstream of altered splice site)
261268STRANDmight get lost (downstream of altered splice site)
269271TURNmight get lost (downstream of altered splice site)
271271CARBOHYDN-linked (GlcNAc...) (complex).might get lost (downstream of altered splice site)
272279STRANDmight get lost (downstream of altered splice site)
273273CONFLICTT -> N (in Ref. 1; AAB59375).might get lost (downstream of altered splice site)
280280CONFLICTD -> G (in Ref. 7; ABG73380).might get lost (downstream of altered splice site)
280282STRANDmight get lost (downstream of altered splice site)
284290HELIXmight get lost (downstream of altered splice site)
293301HELIXmight get lost (downstream of altered splice site)
306313STRANDmight get lost (downstream of altered splice site)
315322STRANDmight get lost (downstream of altered splice site)
323329HELIXmight get lost (downstream of altered splice site)
326326CONFLICTV -> I (in Ref. 3; CAA25838).might get lost (downstream of altered splice site)
334336HELIXmight get lost (downstream of altered splice site)
337340STRANDmight get lost (downstream of altered splice site)
343345TURNmight get lost (downstream of altered splice site)
346349STRANDmight get lost (downstream of altered splice site)
355364STRANDmight get lost (downstream of altered splice site)
366371STRANDmight get lost (downstream of altered splice site)
368392REGIONRCL.might get lost (downstream of altered splice site)
374376HELIXmight get lost (downstream of altered splice site)
375418PEPTIDEShort peptide from AAT. /FTId=PRO_0000364030.might get lost (downstream of altered splice site)
379383STRANDmight get lost (downstream of altered splice site)
382382MUTAGENM->V: Oxidation-resistant inhibitor of therapeutic importance.might get lost (downstream of altered splice site)
382383SITEReactive bond.might get lost (downstream of altered splice site)
387389STRANDmight get lost (downstream of altered splice site)
394400STRANDmight get lost (downstream of altered splice site)
401403TURNmight get lost (downstream of altered splice site)
406413STRANDmight get lost (downstream of altered splice site)
410410CONFLICTG -> L (in Ref. 24; AA sequence).might get lost (downstream of altered splice site)
414414CONFLICTN -> S (in Ref. 24; AA sequence).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1257 / 1257
position (AA) of stopcodon in wt / mu AA sequence 419 / 419
position of stopcodon in wt / mu cDNA 1442 / 1442
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 186 / 186
chromosome 14
strand -1
last intron/exon boundary 1251
theoretical NMD boundary in CDS 1015
length of CDS 1257
coding sequence (CDS) position 710
cDNA position
(for ins/del: last normal base / first normal base)		 895
gDNA position
(for ins/del: last normal base / first normal base)		 9616
chromosomal position
(for ins/del: last normal base / first normal base)		 94847415
original gDNA sequence snippet GGACTTCCACGTGGACCAGGTGACCACCGTGAAGGTGCCTA
altered gDNA sequence snippet GGACTTCCACGTGGACCAGGCGACCACCGTGAAGGTGCCTA
original cDNA sequence snippet GGACTTCCACGTGGACCAGGTGACCACCGTGAAGGTGCCTA
altered cDNA sequence snippet GGACTTCCACGTGGACCAGGCGACCACCGTGAAGGTGCCTA
wildtype AA sequence MPSSVSWGIL LLAGLCCLVP VSLAEDPQGD AAQKTDTSHH DQDHPTFNKI TPNLAEFAFS
LYRQLAHQSN STNIFFSPVS IATAFAMLSL GTKADTHDEI LEGLNFNLTE IPEAQIHEGF
QELLRTLNQP DSQLQLTTGN GLFLSEGLKL VDKFLEDVKK LYHSEAFTVN FGDTEEAKKQ
INDYVEKGTQ GKIVDLVKEL DRDTVFALVN YIFFKGKWER PFEVKDTEEE DFHVDQVTTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMIE QNTKSPLFMG KVVNPTQK*
mutated AA sequence MPSSVSWGIL LLAGLCCLVP VSLAEDPQGD AAQKTDTSHH DQDHPTFNKI TPNLAEFAFS
LYRQLAHQSN STNIFFSPVS IATAFAMLSL GTKADTHDEI LEGLNFNLTE IPEAQIHEGF
QELLRTLNQP DSQLQLTTGN GLFLSEGLKL VDKFLEDVKK LYHSEAFTVN FGDTEEAKKQ
INDYVEKGTQ GKIVDLVKEL DRDTVFALVN YIFFKGKWER PFEVKDTEEE DFHVDQATTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMIE QNTKSPLFMG KVVNPTQK*
speed 0.23 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM176333)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:94847415A>GN/A show variant in all transcripts   IGV
HGNC symbol SERPINA1
Ensembl transcript ID ENST00000393087
Genbank transcript ID N/A
UniProt peptide P01009
alteration type single base exchange
alteration region CDS
DNA changes c.710T>C
cDNA.975T>C
g.9616T>C
AA changes V237A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 237
frameshift no
known variant Reference ID: rs6647
databasehomozygous (G/G)heterozygousallele carriers
1000G298653951
ExAC39061892222828

known disease mutation at this position, please check HGMD for details (HGMD ID CM176333)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.3760.001
-1.010
(flanking)-1.0310
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 increased9614wt: 0.5398 / mu: 0.5844 (marginal change - not scored)wt: GACCAGGTGACCACC
mu: GACCAGGCGACCACC		 CCAG|gtga
Donor increased9613wt: 0.70 / mu: 0.89wt: GGACCAGGTGACCAC
mu: GGACCAGGCGACCAC		 ACCA|ggtg
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      237DTEEEDFHVDQVTTVKVPMMKRLG
mutated  not conserved    237DTEEEDFHVDQATTV
Ptroglodytes  not conserved  ENSPTRG00000023666  237DTEEEDFHVDQATTV
Mmulatta  not conserved  ENSMMUG00000020426  237ATKEEDFHVDQATTV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021081  231SVKVKDYHLGYGMT
Ggallus  not conserved  ENSGALG00000010969  238NTEEREFFVDAETTVKVPMMCR
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000023329  257FTQDGIFHVDENTNVTVPMMRRN
protein features
start (aa)end (aa)featuredetails 
238256STRANDmight get lost (downstream of altered splice site)
256256MOD_RESS-cysteinyl cysteine.might get lost (downstream of altered splice site)
257260TURNmight get lost (downstream of altered splice site)
261268STRANDmight get lost (downstream of altered splice site)
269271TURNmight get lost (downstream of altered splice site)
271271CARBOHYDN-linked (GlcNAc...) (complex).might get lost (downstream of altered splice site)
272279STRANDmight get lost (downstream of altered splice site)
273273CONFLICTT -> N (in Ref. 1; AAB59375).might get lost (downstream of altered splice site)
280280CONFLICTD -> G (in Ref. 7; ABG73380).might get lost (downstream of altered splice site)
280282STRANDmight get lost (downstream of altered splice site)
284290HELIXmight get lost (downstream of altered splice site)
293301HELIXmight get lost (downstream of altered splice site)
306313STRANDmight get lost (downstream of altered splice site)
315322STRANDmight get lost (downstream of altered splice site)
323329HELIXmight get lost (downstream of altered splice site)
326326CONFLICTV -> I (in Ref. 3; CAA25838).might get lost (downstream of altered splice site)
334336HELIXmight get lost (downstream of altered splice site)
337340STRANDmight get lost (downstream of altered splice site)
343345TURNmight get lost (downstream of altered splice site)
346349STRANDmight get lost (downstream of altered splice site)
355364STRANDmight get lost (downstream of altered splice site)
366371STRANDmight get lost (downstream of altered splice site)
368392REGIONRCL.might get lost (downstream of altered splice site)
374376HELIXmight get lost (downstream of altered splice site)
375418PEPTIDEShort peptide from AAT. /FTId=PRO_0000364030.might get lost (downstream of altered splice site)
379383STRANDmight get lost (downstream of altered splice site)
382382MUTAGENM->V: Oxidation-resistant inhibitor of therapeutic importance.might get lost (downstream of altered splice site)
382383SITEReactive bond.might get lost (downstream of altered splice site)
387389STRANDmight get lost (downstream of altered splice site)
394400STRANDmight get lost (downstream of altered splice site)
401403TURNmight get lost (downstream of altered splice site)
406413STRANDmight get lost (downstream of altered splice site)
410410CONFLICTG -> L (in Ref. 24; AA sequence).might get lost (downstream of altered splice site)
414414CONFLICTN -> S (in Ref. 24; AA sequence).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1257 / 1257
position (AA) of stopcodon in wt / mu AA sequence 419 / 419
position of stopcodon in wt / mu cDNA 1522 / 1522
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 266 / 266
chromosome 14
strand -1
last intron/exon boundary 1331
theoretical NMD boundary in CDS 1015
length of CDS 1257
coding sequence (CDS) position 710
cDNA position
(for ins/del: last normal base / first normal base)		 975
gDNA position
(for ins/del: last normal base / first normal base)		 9616
chromosomal position
(for ins/del: last normal base / first normal base)		 94847415
original gDNA sequence snippet GGACTTCCACGTGGACCAGGTGACCACCGTGAAGGTGCCTA
altered gDNA sequence snippet GGACTTCCACGTGGACCAGGCGACCACCGTGAAGGTGCCTA
original cDNA sequence snippet GGACTTCCACGTGGACCAGGTGACCACCGTGAAGGTGCCTA
altered cDNA sequence snippet GGACTTCCACGTGGACCAGGCGACCACCGTGAAGGTGCCTA
wildtype AA sequence MPSSVSWGIL LLAGLCCLVP VSLAEDPQGD AAQKTDTSHH DQDHPTFNKI TPNLAEFAFS
LYRQLAHQSN STNIFFSPVS IATAFAMLSL GTKADTHDEI LEGLNFNLTE IPEAQIHEGF
QELLRTLNQP DSQLQLTTGN GLFLSEGLKL VDKFLEDVKK LYHSEAFTVN FGDTEEAKKQ
INDYVEKGTQ GKIVDLVKEL DRDTVFALVN YIFFKGKWER PFEVKDTEEE DFHVDQVTTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMIE QNTKSPLFMG KVVNPTQK*
mutated AA sequence MPSSVSWGIL LLAGLCCLVP VSLAEDPQGD AAQKTDTSHH DQDHPTFNKI TPNLAEFAFS
LYRQLAHQSN STNIFFSPVS IATAFAMLSL GTKADTHDEI LEGLNFNLTE IPEAQIHEGF
QELLRTLNQP DSQLQLTTGN GLFLSEGLKL VDKFLEDVKK LYHSEAFTVN FGDTEEAKKQ
INDYVEKGTQ GKIVDLVKEL DRDTVFALVN YIFFKGKWER PFEVKDTEEE DFHVDQATTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMIE QNTKSPLFMG KVVNPTQK*
speed 0.13 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM176333)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:94847415A>GN/A show variant in all transcripts   IGV
HGNC symbol SERPINA1
Ensembl transcript ID ENST00000393088
Genbank transcript ID N/A
UniProt peptide P01009
alteration type single base exchange
alteration region CDS
DNA changes c.710T>C
cDNA.1265T>C
g.9616T>C
AA changes V237A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 237
frameshift no
known variant Reference ID: rs6647
databasehomozygous (G/G)heterozygousallele carriers
1000G298653951
ExAC39061892222828

known disease mutation at this position, please check HGMD for details (HGMD ID CM176333)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.3760.001
-1.010
(flanking)-1.0310
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 increased9614wt: 0.5398 / mu: 0.5844 (marginal change - not scored)wt: GACCAGGTGACCACC
mu: GACCAGGCGACCACC		 CCAG|gtga
Donor increased9613wt: 0.70 / mu: 0.89wt: GGACCAGGTGACCAC
mu: GGACCAGGCGACCAC		 ACCA|ggtg
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      237DTEEEDFHVDQVTTVKVPMMKRLG
mutated  not conserved    237DTEEEDFHVDQATTV
Ptroglodytes  not conserved  ENSPTRG00000023666  237DTEEEDFHVDQATTV
Mmulatta  not conserved  ENSMMUG00000020426  237ATKEEDFHVDQATTV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021081  231SVKVKDYHLGYGMT
Ggallus  not conserved  ENSGALG00000010969  238NTEEREFFVDAETTVKVPMMCR
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000023329  257FTQDGIFHVDENTNVTVPMMRRN
protein features
start (aa)end (aa)featuredetails 
238256STRANDmight get lost (downstream of altered splice site)
256256MOD_RESS-cysteinyl cysteine.might get lost (downstream of altered splice site)
257260TURNmight get lost (downstream of altered splice site)
261268STRANDmight get lost (downstream of altered splice site)
269271TURNmight get lost (downstream of altered splice site)
271271CARBOHYDN-linked (GlcNAc...) (complex).might get lost (downstream of altered splice site)
272279STRANDmight get lost (downstream of altered splice site)
273273CONFLICTT -> N (in Ref. 1; AAB59375).might get lost (downstream of altered splice site)
280280CONFLICTD -> G (in Ref. 7; ABG73380).might get lost (downstream of altered splice site)
280282STRANDmight get lost (downstream of altered splice site)
284290HELIXmight get lost (downstream of altered splice site)
293301HELIXmight get lost (downstream of altered splice site)
306313STRANDmight get lost (downstream of altered splice site)
315322STRANDmight get lost (downstream of altered splice site)
323329HELIXmight get lost (downstream of altered splice site)
326326CONFLICTV -> I (in Ref. 3; CAA25838).might get lost (downstream of altered splice site)
334336HELIXmight get lost (downstream of altered splice site)
337340STRANDmight get lost (downstream of altered splice site)
343345TURNmight get lost (downstream of altered splice site)
346349STRANDmight get lost (downstream of altered splice site)
355364STRANDmight get lost (downstream of altered splice site)
366371STRANDmight get lost (downstream of altered splice site)
368392REGIONRCL.might get lost (downstream of altered splice site)
374376HELIXmight get lost (downstream of altered splice site)
375418PEPTIDEShort peptide from AAT. /FTId=PRO_0000364030.might get lost (downstream of altered splice site)
379383STRANDmight get lost (downstream of altered splice site)
382382MUTAGENM->V: Oxidation-resistant inhibitor of therapeutic importance.might get lost (downstream of altered splice site)
382383SITEReactive bond.might get lost (downstream of altered splice site)
387389STRANDmight get lost (downstream of altered splice site)
394400STRANDmight get lost (downstream of altered splice site)
401403TURNmight get lost (downstream of altered splice site)
406413STRANDmight get lost (downstream of altered splice site)
410410CONFLICTG -> L (in Ref. 24; AA sequence).might get lost (downstream of altered splice site)
414414CONFLICTN -> S (in Ref. 24; AA sequence).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1257 / 1257
position (AA) of stopcodon in wt / mu AA sequence 419 / 419
position of stopcodon in wt / mu cDNA 1812 / 1812
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 556 / 556
chromosome 14
strand -1
last intron/exon boundary 1621
theoretical NMD boundary in CDS 1015
length of CDS 1257
coding sequence (CDS) position 710
cDNA position
(for ins/del: last normal base / first normal base)		 1265
gDNA position
(for ins/del: last normal base / first normal base)		 9616
chromosomal position
(for ins/del: last normal base / first normal base)		 94847415
original gDNA sequence snippet GGACTTCCACGTGGACCAGGTGACCACCGTGAAGGTGCCTA
altered gDNA sequence snippet GGACTTCCACGTGGACCAGGCGACCACCGTGAAGGTGCCTA
original cDNA sequence snippet GGACTTCCACGTGGACCAGGTGACCACCGTGAAGGTGCCTA
altered cDNA sequence snippet GGACTTCCACGTGGACCAGGCGACCACCGTGAAGGTGCCTA
wildtype AA sequence MPSSVSWGIL LLAGLCCLVP VSLAEDPQGD AAQKTDTSHH DQDHPTFNKI TPNLAEFAFS
LYRQLAHQSN STNIFFSPVS IATAFAMLSL GTKADTHDEI LEGLNFNLTE IPEAQIHEGF
QELLRTLNQP DSQLQLTTGN GLFLSEGLKL VDKFLEDVKK LYHSEAFTVN FGDTEEAKKQ
INDYVEKGTQ GKIVDLVKEL DRDTVFALVN YIFFKGKWER PFEVKDTEEE DFHVDQVTTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMIE QNTKSPLFMG KVVNPTQK*
mutated AA sequence MPSSVSWGIL LLAGLCCLVP VSLAEDPQGD AAQKTDTSHH DQDHPTFNKI TPNLAEFAFS
LYRQLAHQSN STNIFFSPVS IATAFAMLSL GTKADTHDEI LEGLNFNLTE IPEAQIHEGF
QELLRTLNQP DSQLQLTTGN GLFLSEGLKL VDKFLEDVKK LYHSEAFTVN FGDTEEAKKQ
INDYVEKGTQ GKIVDLVKEL DRDTVFALVN YIFFKGKWER PFEVKDTEEE DFHVDQATTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMIE QNTKSPLFMG KVVNPTQK*
speed 0.25 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM176333)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:94847415A>GN/A show variant in all transcripts   IGV
HGNC symbol SERPINA1
Ensembl transcript ID ENST00000404814
Genbank transcript ID N/A
UniProt peptide P01009
alteration type single base exchange
alteration region CDS
DNA changes c.710T>C
cDNA.1021T>C
g.9616T>C
AA changes V237A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 237
frameshift no
known variant Reference ID: rs6647
databasehomozygous (G/G)heterozygousallele carriers
1000G298653951
ExAC39061892222828

known disease mutation at this position, please check HGMD for details (HGMD ID CM176333)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.3760.001
-1.010
(flanking)-1.0310
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 increased9614wt: 0.5398 / mu: 0.5844 (marginal change - not scored)wt: GACCAGGTGACCACC
mu: GACCAGGCGACCACC		 CCAG|gtga
Donor increased9613wt: 0.70 / mu: 0.89wt: GGACCAGGTGACCAC
mu: GGACCAGGCGACCAC		 ACCA|ggtg
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      237DTEEEDFHVDQVTTVKVPMMKRLG
mutated  not conserved    237DTEEEDFHVDQATTV
Ptroglodytes  not conserved  ENSPTRG00000023666  237DTEEEDFHVDQATTV
Mmulatta  not conserved  ENSMMUG00000020426  237ATKEEDFHVDQATTV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021081  231SVKVKDYHLGYGMT
Ggallus  not conserved  ENSGALG00000010969  238NTEEREFFVDAETTVKVPMMCR
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000023329  257FTQDGIFHVDENTNVTVPMMRRN
protein features
start (aa)end (aa)featuredetails 
238256STRANDmight get lost (downstream of altered splice site)
256256MOD_RESS-cysteinyl cysteine.might get lost (downstream of altered splice site)
257260TURNmight get lost (downstream of altered splice site)
261268STRANDmight get lost (downstream of altered splice site)
269271TURNmight get lost (downstream of altered splice site)
271271CARBOHYDN-linked (GlcNAc...) (complex).might get lost (downstream of altered splice site)
272279STRANDmight get lost (downstream of altered splice site)
273273CONFLICTT -> N (in Ref. 1; AAB59375).might get lost (downstream of altered splice site)
280280CONFLICTD -> G (in Ref. 7; ABG73380).might get lost (downstream of altered splice site)
280282STRANDmight get lost (downstream of altered splice site)
284290HELIXmight get lost (downstream of altered splice site)
293301HELIXmight get lost (downstream of altered splice site)
306313STRANDmight get lost (downstream of altered splice site)
315322STRANDmight get lost (downstream of altered splice site)
323329HELIXmight get lost (downstream of altered splice site)
326326CONFLICTV -> I (in Ref. 3; CAA25838).might get lost (downstream of altered splice site)
334336HELIXmight get lost (downstream of altered splice site)
337340STRANDmight get lost (downstream of altered splice site)
343345TURNmight get lost (downstream of altered splice site)
346349STRANDmight get lost (downstream of altered splice site)
355364STRANDmight get lost (downstream of altered splice site)
366371STRANDmight get lost (downstream of altered splice site)
368392REGIONRCL.might get lost (downstream of altered splice site)
374376HELIXmight get lost (downstream of altered splice site)
375418PEPTIDEShort peptide from AAT. /FTId=PRO_0000364030.might get lost (downstream of altered splice site)
379383STRANDmight get lost (downstream of altered splice site)
382382MUTAGENM->V: Oxidation-resistant inhibitor of therapeutic importance.might get lost (downstream of altered splice site)
382383SITEReactive bond.might get lost (downstream of altered splice site)
387389STRANDmight get lost (downstream of altered splice site)
394400STRANDmight get lost (downstream of altered splice site)
401403TURNmight get lost (downstream of altered splice site)
406413STRANDmight get lost (downstream of altered splice site)
410410CONFLICTG -> L (in Ref. 24; AA sequence).might get lost (downstream of altered splice site)
414414CONFLICTN -> S (in Ref. 24; AA sequence).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1257 / 1257
position (AA) of stopcodon in wt / mu AA sequence 419 / 419
position of stopcodon in wt / mu cDNA 1568 / 1568
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 312 / 312
chromosome 14
strand -1
last intron/exon boundary 1377
theoretical NMD boundary in CDS 1015
length of CDS 1257
coding sequence (CDS) position 710
cDNA position
(for ins/del: last normal base / first normal base)		 1021
gDNA position
(for ins/del: last normal base / first normal base)		 9616
chromosomal position
(for ins/del: last normal base / first normal base)		 94847415
original gDNA sequence snippet GGACTTCCACGTGGACCAGGTGACCACCGTGAAGGTGCCTA
altered gDNA sequence snippet GGACTTCCACGTGGACCAGGCGACCACCGTGAAGGTGCCTA
original cDNA sequence snippet GGACTTCCACGTGGACCAGGTGACCACCGTGAAGGTGCCTA
altered cDNA sequence snippet GGACTTCCACGTGGACCAGGCGACCACCGTGAAGGTGCCTA
wildtype AA sequence MPSSVSWGIL LLAGLCCLVP VSLAEDPQGD AAQKTDTSHH DQDHPTFNKI TPNLAEFAFS
LYRQLAHQSN STNIFFSPVS IATAFAMLSL GTKADTHDEI LEGLNFNLTE IPEAQIHEGF
QELLRTLNQP DSQLQLTTGN GLFLSEGLKL VDKFLEDVKK LYHSEAFTVN FGDTEEAKKQ
INDYVEKGTQ GKIVDLVKEL DRDTVFALVN YIFFKGKWER PFEVKDTEEE DFHVDQVTTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMIE QNTKSPLFMG KVVNPTQK*
mutated AA sequence MPSSVSWGIL LLAGLCCLVP VSLAEDPQGD AAQKTDTSHH DQDHPTFNKI TPNLAEFAFS
LYRQLAHQSN STNIFFSPVS IATAFAMLSL GTKADTHDEI LEGLNFNLTE IPEAQIHEGF
QELLRTLNQP DSQLQLTTGN GLFLSEGLKL VDKFLEDVKK LYHSEAFTVN FGDTEEAKKQ
INDYVEKGTQ GKIVDLVKEL DRDTVFALVN YIFFKGKWER PFEVKDTEEE DFHVDQATTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMIE QNTKSPLFMG KVVNPTQK*
speed 0.27 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM176333)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:94847415A>GN/A show variant in all transcripts   IGV
HGNC symbol SERPINA1
Ensembl transcript ID ENST00000449399
Genbank transcript ID N/A
UniProt peptide P01009
alteration type single base exchange
alteration region CDS
DNA changes c.710T>C
cDNA.1012T>C
g.9616T>C
AA changes V237A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 237
frameshift no
known variant Reference ID: rs6647
databasehomozygous (G/G)heterozygousallele carriers
1000G298653951
ExAC39061892222828

known disease mutation at this position, please check HGMD for details (HGMD ID CM176333)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.3760.001
-1.010
(flanking)-1.0310
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 increased9614wt: 0.5398 / mu: 0.5844 (marginal change - not scored)wt: GACCAGGTGACCACC
mu: GACCAGGCGACCACC		 CCAG|gtga
Donor increased9613wt: 0.70 / mu: 0.89wt: GGACCAGGTGACCAC
mu: GGACCAGGCGACCAC		 ACCA|ggtg
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      237DTEEEDFHVDQVTTVKVPMMKRLG
mutated  not conserved    237DTEEEDFHVDQATTV
Ptroglodytes  not conserved  ENSPTRG00000023666  237DTEEEDFHVDQATTV
Mmulatta  not conserved  ENSMMUG00000020426  237ATKEEDFHVDQATTV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021081  231SVKVKDYHLGYGMT
Ggallus  not conserved  ENSGALG00000010969  238NTEEREFFVDAETTVKVPMMCR
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000023329  257FTQDGIFHVDENTNVTVPMMRRN
protein features
start (aa)end (aa)featuredetails 
238256STRANDmight get lost (downstream of altered splice site)
256256MOD_RESS-cysteinyl cysteine.might get lost (downstream of altered splice site)
257260TURNmight get lost (downstream of altered splice site)
261268STRANDmight get lost (downstream of altered splice site)
269271TURNmight get lost (downstream of altered splice site)
271271CARBOHYDN-linked (GlcNAc...) (complex).might get lost (downstream of altered splice site)
272279STRANDmight get lost (downstream of altered splice site)
273273CONFLICTT -> N (in Ref. 1; AAB59375).might get lost (downstream of altered splice site)
280280CONFLICTD -> G (in Ref. 7; ABG73380).might get lost (downstream of altered splice site)
280282STRANDmight get lost (downstream of altered splice site)
284290HELIXmight get lost (downstream of altered splice site)
293301HELIXmight get lost (downstream of altered splice site)
306313STRANDmight get lost (downstream of altered splice site)
315322STRANDmight get lost (downstream of altered splice site)
323329HELIXmight get lost (downstream of altered splice site)
326326CONFLICTV -> I (in Ref. 3; CAA25838).might get lost (downstream of altered splice site)
334336HELIXmight get lost (downstream of altered splice site)
337340STRANDmight get lost (downstream of altered splice site)
343345TURNmight get lost (downstream of altered splice site)
346349STRANDmight get lost (downstream of altered splice site)
355364STRANDmight get lost (downstream of altered splice site)
366371STRANDmight get lost (downstream of altered splice site)
368392REGIONRCL.might get lost (downstream of altered splice site)
374376HELIXmight get lost (downstream of altered splice site)
375418PEPTIDEShort peptide from AAT. /FTId=PRO_0000364030.might get lost (downstream of altered splice site)
379383STRANDmight get lost (downstream of altered splice site)
382382MUTAGENM->V: Oxidation-resistant inhibitor of therapeutic importance.might get lost (downstream of altered splice site)
382383SITEReactive bond.might get lost (downstream of altered splice site)
387389STRANDmight get lost (downstream of altered splice site)
394400STRANDmight get lost (downstream of altered splice site)
401403TURNmight get lost (downstream of altered splice site)
406413STRANDmight get lost (downstream of altered splice site)
410410CONFLICTG -> L (in Ref. 24; AA sequence).might get lost (downstream of altered splice site)
414414CONFLICTN -> S (in Ref. 24; AA sequence).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1257 / 1257
position (AA) of stopcodon in wt / mu AA sequence 419 / 419
position of stopcodon in wt / mu cDNA 1559 / 1559
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 303 / 303
chromosome 14
strand -1
last intron/exon boundary 1368
theoretical NMD boundary in CDS 1015
length of CDS 1257
coding sequence (CDS) position 710
cDNA position
(for ins/del: last normal base / first normal base)		 1012
gDNA position
(for ins/del: last normal base / first normal base)		 9616
chromosomal position
(for ins/del: last normal base / first normal base)		 94847415
original gDNA sequence snippet GGACTTCCACGTGGACCAGGTGACCACCGTGAAGGTGCCTA
altered gDNA sequence snippet GGACTTCCACGTGGACCAGGCGACCACCGTGAAGGTGCCTA
original cDNA sequence snippet GGACTTCCACGTGGACCAGGTGACCACCGTGAAGGTGCCTA
altered cDNA sequence snippet GGACTTCCACGTGGACCAGGCGACCACCGTGAAGGTGCCTA
wildtype AA sequence MPSSVSWGIL LLAGLCCLVP VSLAEDPQGD AAQKTDTSHH DQDHPTFNKI TPNLAEFAFS
LYRQLAHQSN STNIFFSPVS IATAFAMLSL GTKADTHDEI LEGLNFNLTE IPEAQIHEGF
QELLRTLNQP DSQLQLTTGN GLFLSEGLKL VDKFLEDVKK LYHSEAFTVN FGDTEEAKKQ
INDYVEKGTQ GKIVDLVKEL DRDTVFALVN YIFFKGKWER PFEVKDTEEE DFHVDQVTTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMIE QNTKSPLFMG KVVNPTQK*
mutated AA sequence MPSSVSWGIL LLAGLCCLVP VSLAEDPQGD AAQKTDTSHH DQDHPTFNKI TPNLAEFAFS
LYRQLAHQSN STNIFFSPVS IATAFAMLSL GTKADTHDEI LEGLNFNLTE IPEAQIHEGF
QELLRTLNQP DSQLQLTTGN GLFLSEGLKL VDKFLEDVKK LYHSEAFTVN FGDTEEAKKQ
INDYVEKGTQ GKIVDLVKEL DRDTVFALVN YIFFKGKWER PFEVKDTEEE DFHVDQATTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMIE QNTKSPLFMG KVVNPTQK*
speed 0.20 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM176333)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:94847415A>GN/A show variant in all transcripts   IGV
HGNC symbol SERPINA1
Ensembl transcript ID ENST00000402629
Genbank transcript ID N/A
UniProt peptide P01009
alteration type single base exchange
alteration region CDS
DNA changes c.710T>C
cDNA.744T>C
g.9616T>C
AA changes V237A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 237
frameshift no
known variant Reference ID: rs6647
databasehomozygous (G/G)heterozygousallele carriers
1000G298653951
ExAC39061892222828

known disease mutation at this position, please check HGMD for details (HGMD ID CM176333)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.3760.001
-1.010
(flanking)-1.0310
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 increased9614wt: 0.5398 / mu: 0.5844 (marginal change - not scored)wt: GACCAGGTGACCACC
mu: GACCAGGCGACCACC		 CCAG|gtga
Donor increased9613wt: 0.70 / mu: 0.89wt: GGACCAGGTGACCAC
mu: GGACCAGGCGACCAC		 ACCA|ggtg
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      237DTEEEDFHVDQVTTVKVPMMKRLG
mutated  not conserved    237DTEEEDFHVDQATTV
Ptroglodytes  not conserved  ENSPTRG00000023666  237DTEEEDFHVDQATTV
Mmulatta  not conserved  ENSMMUG00000020426  237ATKEEDFHVDQATTV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021081  231SVKVKDYHLGYGMT
Ggallus  not conserved  ENSGALG00000010969  238NTEEREFFVDAETTVKVPMMCR
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000023329  257FTQDGIFHVDENTNVTVPMMRRN
protein features
start (aa)end (aa)featuredetails 
238256STRANDmight get lost (downstream of altered splice site)
256256MOD_RESS-cysteinyl cysteine.might get lost (downstream of altered splice site)
257260TURNmight get lost (downstream of altered splice site)
261268STRANDmight get lost (downstream of altered splice site)
269271TURNmight get lost (downstream of altered splice site)
271271CARBOHYDN-linked (GlcNAc...) (complex).might get lost (downstream of altered splice site)
272279STRANDmight get lost (downstream of altered splice site)
273273CONFLICTT -> N (in Ref. 1; AAB59375).might get lost (downstream of altered splice site)
280280CONFLICTD -> G (in Ref. 7; ABG73380).might get lost (downstream of altered splice site)
280282STRANDmight get lost (downstream of altered splice site)
284290HELIXmight get lost (downstream of altered splice site)
293301HELIXmight get lost (downstream of altered splice site)
306313STRANDmight get lost (downstream of altered splice site)
315322STRANDmight get lost (downstream of altered splice site)
323329HELIXmight get lost (downstream of altered splice site)
326326CONFLICTV -> I (in Ref. 3; CAA25838).might get lost (downstream of altered splice site)
334336HELIXmight get lost (downstream of altered splice site)
337340STRANDmight get lost (downstream of altered splice site)
343345TURNmight get lost (downstream of altered splice site)
346349STRANDmight get lost (downstream of altered splice site)
355364STRANDmight get lost (downstream of altered splice site)
366371STRANDmight get lost (downstream of altered splice site)
368392REGIONRCL.might get lost (downstream of altered splice site)
374376HELIXmight get lost (downstream of altered splice site)
375418PEPTIDEShort peptide from AAT. /FTId=PRO_0000364030.might get lost (downstream of altered splice site)
379383STRANDmight get lost (downstream of altered splice site)
382382MUTAGENM->V: Oxidation-resistant inhibitor of therapeutic importance.might get lost (downstream of altered splice site)
382383SITEReactive bond.might get lost (downstream of altered splice site)
387389STRANDmight get lost (downstream of altered splice site)
394400STRANDmight get lost (downstream of altered splice site)
401403TURNmight get lost (downstream of altered splice site)
406413STRANDmight get lost (downstream of altered splice site)
410410CONFLICTG -> L (in Ref. 24; AA sequence).might get lost (downstream of altered splice site)
414414CONFLICTN -> S (in Ref. 24; AA sequence).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1080 / 1080
position (AA) of stopcodon in wt / mu AA sequence 360 / 360
position of stopcodon in wt / mu cDNA 1114 / 1114
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 35 / 35
chromosome 14
strand -1
last intron/exon boundary 952
theoretical NMD boundary in CDS 867
length of CDS 1080
coding sequence (CDS) position 710
cDNA position
(for ins/del: last normal base / first normal base)		 744
gDNA position
(for ins/del: last normal base / first normal base)		 9616
chromosomal position
(for ins/del: last normal base / first normal base)		 94847415
original gDNA sequence snippet GGACTTCCACGTGGACCAGGTGACCACCGTGAAGGTGCCTA
altered gDNA sequence snippet GGACTTCCACGTGGACCAGGCGACCACCGTGAAGGTGCCTA
original cDNA sequence snippet GGACTTCCACGTGGACCAGGTGACCACCGTGAAGGTGCCTA
altered cDNA sequence snippet GGACTTCCACGTGGACCAGGCGACCACCGTGAAGGTGCCTA
wildtype AA sequence MPSSVSWGIL LLAGLCCLVP VSLAEDPQGD AAQKTDTSHH DQDHPTFNKI TPNLAEFAFS
LYRQLAHQSN STNIFFSPVS IATAFAMLSL GTKADTHDEI LEGLNFNLTE IPEAQIHEGF
QELLRTLNQP DSQLQLTTGN GLFLSEGLKL VDKFLEDVKK LYHSEAFTVN FGDTEEAKKQ
INDYVEKGTQ GKIVDLVKEL DRDTVFALVN YIFFKGKWER PFEVKDTEEE DFHVDQVTTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKVRSP*
mutated AA sequence MPSSVSWGIL LLAGLCCLVP VSLAEDPQGD AAQKTDTSHH DQDHPTFNKI TPNLAEFAFS
LYRQLAHQSN STNIFFSPVS IATAFAMLSL GTKADTHDEI LEGLNFNLTE IPEAQIHEGF
QELLRTLNQP DSQLQLTTGN GLFLSEGLKL VDKFLEDVKK LYHSEAFTVN FGDTEEAKKQ
INDYVEKGTQ GKIVDLVKEL DRDTVFALVN YIFFKGKWER PFEVKDTEEE DFHVDQATTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKVRSP*
speed 0.14 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM176333)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:94847415A>GN/A show variant in all transcripts   IGV
HGNC symbol SERPINA1
Ensembl transcript ID ENST00000448921
Genbank transcript ID NM_001002236
UniProt peptide P01009
alteration type single base exchange
alteration region CDS
DNA changes c.710T>C
cDNA.1283T>C
g.9616T>C
AA changes V237A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 237
frameshift no
known variant Reference ID: rs6647
databasehomozygous (G/G)heterozygousallele carriers
1000G298653951
ExAC39061892222828

known disease mutation at this position, please check HGMD for details (HGMD ID CM176333)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.3760.001
-1.010
(flanking)-1.0310
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 increased9614wt: 0.5398 / mu: 0.5844 (marginal change - not scored)wt: GACCAGGTGACCACC
mu: GACCAGGCGACCACC		 CCAG|gtga
Donor increased9613wt: 0.70 / mu: 0.89wt: GGACCAGGTGACCAC
mu: GGACCAGGCGACCAC		 ACCA|ggtg
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      237DTEEEDFHVDQVTTVKVPMMKRLG
mutated  not conserved    237DTEEEDFHVDQATTV
Ptroglodytes  not conserved  ENSPTRG00000023666  237DTEEEDFHVDQATTV
Mmulatta  not conserved  ENSMMUG00000020426  237ATKEEDFHVDQATTV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021081  231SVKVKDYHLGYGMT
Ggallus  not conserved  ENSGALG00000010969  238NTEEREFFVDAETTVKVPMMCR
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000023329  257FTQDGIFHVDENTNVTVPMMRRN
protein features
start (aa)end (aa)featuredetails 
238256STRANDmight get lost (downstream of altered splice site)
256256MOD_RESS-cysteinyl cysteine.might get lost (downstream of altered splice site)
257260TURNmight get lost (downstream of altered splice site)
261268STRANDmight get lost (downstream of altered splice site)
269271TURNmight get lost (downstream of altered splice site)
271271CARBOHYDN-linked (GlcNAc...) (complex).might get lost (downstream of altered splice site)
272279STRANDmight get lost (downstream of altered splice site)
273273CONFLICTT -> N (in Ref. 1; AAB59375).might get lost (downstream of altered splice site)
280280CONFLICTD -> G (in Ref. 7; ABG73380).might get lost (downstream of altered splice site)
280282STRANDmight get lost (downstream of altered splice site)
284290HELIXmight get lost (downstream of altered splice site)
293301HELIXmight get lost (downstream of altered splice site)
306313STRANDmight get lost (downstream of altered splice site)
315322STRANDmight get lost (downstream of altered splice site)
323329HELIXmight get lost (downstream of altered splice site)
326326CONFLICTV -> I (in Ref. 3; CAA25838).might get lost (downstream of altered splice site)
334336HELIXmight get lost (downstream of altered splice site)
337340STRANDmight get lost (downstream of altered splice site)
343345TURNmight get lost (downstream of altered splice site)
346349STRANDmight get lost (downstream of altered splice site)
355364STRANDmight get lost (downstream of altered splice site)
366371STRANDmight get lost (downstream of altered splice site)
368392REGIONRCL.might get lost (downstream of altered splice site)
374376HELIXmight get lost (downstream of altered splice site)
375418PEPTIDEShort peptide from AAT. /FTId=PRO_0000364030.might get lost (downstream of altered splice site)
379383STRANDmight get lost (downstream of altered splice site)
382382MUTAGENM->V: Oxidation-resistant inhibitor of therapeutic importance.might get lost (downstream of altered splice site)
382383SITEReactive bond.might get lost (downstream of altered splice site)
387389STRANDmight get lost (downstream of altered splice site)
394400STRANDmight get lost (downstream of altered splice site)
401403TURNmight get lost (downstream of altered splice site)
406413STRANDmight get lost (downstream of altered splice site)
410410CONFLICTG -> L (in Ref. 24; AA sequence).might get lost (downstream of altered splice site)
414414CONFLICTN -> S (in Ref. 24; AA sequence).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1257 / 1257
position (AA) of stopcodon in wt / mu AA sequence 419 / 419
position of stopcodon in wt / mu cDNA 1830 / 1830
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 574 / 574
chromosome 14
strand -1
last intron/exon boundary 1639
theoretical NMD boundary in CDS 1015
length of CDS 1257
coding sequence (CDS) position 710
cDNA position
(for ins/del: last normal base / first normal base)		 1283
gDNA position
(for ins/del: last normal base / first normal base)		 9616
chromosomal position
(for ins/del: last normal base / first normal base)		 94847415
original gDNA sequence snippet GGACTTCCACGTGGACCAGGTGACCACCGTGAAGGTGCCTA
altered gDNA sequence snippet GGACTTCCACGTGGACCAGGCGACCACCGTGAAGGTGCCTA
original cDNA sequence snippet GGACTTCCACGTGGACCAGGTGACCACCGTGAAGGTGCCTA
altered cDNA sequence snippet GGACTTCCACGTGGACCAGGCGACCACCGTGAAGGTGCCTA
wildtype AA sequence MPSSVSWGIL LLAGLCCLVP VSLAEDPQGD AAQKTDTSHH DQDHPTFNKI TPNLAEFAFS
LYRQLAHQSN STNIFFSPVS IATAFAMLSL GTKADTHDEI LEGLNFNLTE IPEAQIHEGF
QELLRTLNQP DSQLQLTTGN GLFLSEGLKL VDKFLEDVKK LYHSEAFTVN FGDTEEAKKQ
INDYVEKGTQ GKIVDLVKEL DRDTVFALVN YIFFKGKWER PFEVKDTEEE DFHVDQVTTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMIE QNTKSPLFMG KVVNPTQK*
mutated AA sequence MPSSVSWGIL LLAGLCCLVP VSLAEDPQGD AAQKTDTSHH DQDHPTFNKI TPNLAEFAFS
LYRQLAHQSN STNIFFSPVS IATAFAMLSL GTKADTHDEI LEGLNFNLTE IPEAQIHEGF
QELLRTLNQP DSQLQLTTGN GLFLSEGLKL VDKFLEDVKK LYHSEAFTVN FGDTEEAKKQ
INDYVEKGTQ GKIVDLVKEL DRDTVFALVN YIFFKGKWER PFEVKDTEEE DFHVDQATTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMIE QNTKSPLFMG KVVNPTQK*
speed 0.17 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM176333)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:94847415A>GN/A show variant in all transcripts   IGV
HGNC symbol SERPINA1
Ensembl transcript ID ENST00000437397
Genbank transcript ID NM_000295
UniProt peptide P01009
alteration type single base exchange
alteration region CDS
DNA changes c.710T>C
cDNA.1091T>C
g.9616T>C
AA changes V237A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 237
frameshift no
known variant Reference ID: rs6647
databasehomozygous (G/G)heterozygousallele carriers
1000G298653951
ExAC39061892222828

known disease mutation at this position, please check HGMD for details (HGMD ID CM176333)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.3760.001
-1.010
(flanking)-1.0310
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 increased9614wt: 0.5398 / mu: 0.5844 (marginal change - not scored)wt: GACCAGGTGACCACC
mu: GACCAGGCGACCACC		 CCAG|gtga
Donor increased9613wt: 0.70 / mu: 0.89wt: GGACCAGGTGACCAC
mu: GGACCAGGCGACCAC		 ACCA|ggtg
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      237DTEEEDFHVDQVTTVKVPMMKRLG
mutated  not conserved    237DTEEEDFHVDQATTV
Ptroglodytes  not conserved  ENSPTRG00000023666  237DTEEEDFHVDQATTV
Mmulatta  not conserved  ENSMMUG00000020426  237ATKEEDFHVDQATTV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021081  231SVKVKDYHLGYGMT
Ggallus  not conserved  ENSGALG00000010969  238NTEEREFFVDAETTVKVPMMCR
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000023329  257FTQDGIFHVDENTNVTVPMMRRN
protein features
start (aa)end (aa)featuredetails 
238256STRANDmight get lost (downstream of altered splice site)
256256MOD_RESS-cysteinyl cysteine.might get lost (downstream of altered splice site)
257260TURNmight get lost (downstream of altered splice site)
261268STRANDmight get lost (downstream of altered splice site)
269271TURNmight get lost (downstream of altered splice site)
271271CARBOHYDN-linked (GlcNAc...) (complex).might get lost (downstream of altered splice site)
272279STRANDmight get lost (downstream of altered splice site)
273273CONFLICTT -> N (in Ref. 1; AAB59375).might get lost (downstream of altered splice site)
280280CONFLICTD -> G (in Ref. 7; ABG73380).might get lost (downstream of altered splice site)
280282STRANDmight get lost (downstream of altered splice site)
284290HELIXmight get lost (downstream of altered splice site)
293301HELIXmight get lost (downstream of altered splice site)
306313STRANDmight get lost (downstream of altered splice site)
315322STRANDmight get lost (downstream of altered splice site)
323329HELIXmight get lost (downstream of altered splice site)
326326CONFLICTV -> I (in Ref. 3; CAA25838).might get lost (downstream of altered splice site)
334336HELIXmight get lost (downstream of altered splice site)
337340STRANDmight get lost (downstream of altered splice site)
343345TURNmight get lost (downstream of altered splice site)
346349STRANDmight get lost (downstream of altered splice site)
355364STRANDmight get lost (downstream of altered splice site)
366371STRANDmight get lost (downstream of altered splice site)
368392REGIONRCL.might get lost (downstream of altered splice site)
374376HELIXmight get lost (downstream of altered splice site)
375418PEPTIDEShort peptide from AAT. /FTId=PRO_0000364030.might get lost (downstream of altered splice site)
379383STRANDmight get lost (downstream of altered splice site)
382382MUTAGENM->V: Oxidation-resistant inhibitor of therapeutic importance.might get lost (downstream of altered splice site)
382383SITEReactive bond.might get lost (downstream of altered splice site)
387389STRANDmight get lost (downstream of altered splice site)
394400STRANDmight get lost (downstream of altered splice site)
401403TURNmight get lost (downstream of altered splice site)
406413STRANDmight get lost (downstream of altered splice site)
410410CONFLICTG -> L (in Ref. 24; AA sequence).might get lost (downstream of altered splice site)
414414CONFLICTN -> S (in Ref. 24; AA sequence).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1257 / 1257
position (AA) of stopcodon in wt / mu AA sequence 419 / 419
position of stopcodon in wt / mu cDNA 1638 / 1638
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 382 / 382
chromosome 14
strand -1
last intron/exon boundary 1447
theoretical NMD boundary in CDS 1015
length of CDS 1257
coding sequence (CDS) position 710
cDNA position
(for ins/del: last normal base / first normal base)		 1091
gDNA position
(for ins/del: last normal base / first normal base)		 9616
chromosomal position
(for ins/del: last normal base / first normal base)		 94847415
original gDNA sequence snippet GGACTTCCACGTGGACCAGGTGACCACCGTGAAGGTGCCTA
altered gDNA sequence snippet GGACTTCCACGTGGACCAGGCGACCACCGTGAAGGTGCCTA
original cDNA sequence snippet GGACTTCCACGTGGACCAGGTGACCACCGTGAAGGTGCCTA
altered cDNA sequence snippet GGACTTCCACGTGGACCAGGCGACCACCGTGAAGGTGCCTA
wildtype AA sequence MPSSVSWGIL LLAGLCCLVP VSLAEDPQGD AAQKTDTSHH DQDHPTFNKI TPNLAEFAFS
LYRQLAHQSN STNIFFSPVS IATAFAMLSL GTKADTHDEI LEGLNFNLTE IPEAQIHEGF
QELLRTLNQP DSQLQLTTGN GLFLSEGLKL VDKFLEDVKK LYHSEAFTVN FGDTEEAKKQ
INDYVEKGTQ GKIVDLVKEL DRDTVFALVN YIFFKGKWER PFEVKDTEEE DFHVDQVTTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMIE QNTKSPLFMG KVVNPTQK*
mutated AA sequence MPSSVSWGIL LLAGLCCLVP VSLAEDPQGD AAQKTDTSHH DQDHPTFNKI TPNLAEFAFS
LYRQLAHQSN STNIFFSPVS IATAFAMLSL GTKADTHDEI LEGLNFNLTE IPEAQIHEGF
QELLRTLNQP DSQLQLTTGN GLFLSEGLKL VDKFLEDVKK LYHSEAFTVN FGDTEEAKKQ
INDYVEKGTQ GKIVDLVKEL DRDTVFALVN YIFFKGKWER PFEVKDTEEE DFHVDQATTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMIE QNTKSPLFMG KVVNPTQK*
speed 0.19 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999999 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM176333)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:94847415A>GN/A show variant in all transcripts   IGV
HGNC symbol SERPINA1
Ensembl transcript ID ENST00000355814
Genbank transcript ID NM_001127700
UniProt peptide P01009
alteration type single base exchange
alteration region CDS
DNA changes c.710T>C
cDNA.987T>C
g.9616T>C
AA changes V237A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 237
frameshift no
known variant Reference ID: rs6647
databasehomozygous (G/G)heterozygousallele carriers
1000G298653951
ExAC39061892222828

known disease mutation at this position, please check HGMD for details (HGMD ID CM176333)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.3760.001
-1.010
(flanking)-1.0310
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 increased9614wt: 0.5398 / mu: 0.5844 (marginal change - not scored)wt: GACCAGGTGACCACC
mu: GACCAGGCGACCACC		 CCAG|gtga
Donor increased9613wt: 0.70 / mu: 0.89wt: GGACCAGGTGACCAC
mu: GGACCAGGCGACCAC		 ACCA|ggtg
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      237DTEEEDFHVDQVTTVKVPMMKRLG
mutated  not conserved    237DTEEEDFHVDQATTV
Ptroglodytes  not conserved  ENSPTRG00000023666  237DTEEEDFHVDQATTV
Mmulatta  not conserved  ENSMMUG00000020426  237ATKEEDFHVDQATTV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021081  231SVKVKDYHLGYGMT
Ggallus  not conserved  ENSGALG00000010969  238NTEEREFFVDAETTVKVPMMCR
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000023329  257FTQDGIFHVDENTNVTVPMMRRN
protein features
start (aa)end (aa)featuredetails 
238256STRANDmight get lost (downstream of altered splice site)
256256MOD_RESS-cysteinyl cysteine.might get lost (downstream of altered splice site)
257260TURNmight get lost (downstream of altered splice site)
261268STRANDmight get lost (downstream of altered splice site)
269271TURNmight get lost (downstream of altered splice site)
271271CARBOHYDN-linked (GlcNAc...) (complex).might get lost (downstream of altered splice site)
272279STRANDmight get lost (downstream of altered splice site)
273273CONFLICTT -> N (in Ref. 1; AAB59375).might get lost (downstream of altered splice site)
280280CONFLICTD -> G (in Ref. 7; ABG73380).might get lost (downstream of altered splice site)
280282STRANDmight get lost (downstream of altered splice site)
284290HELIXmight get lost (downstream of altered splice site)
293301HELIXmight get lost (downstream of altered splice site)
306313STRANDmight get lost (downstream of altered splice site)
315322STRANDmight get lost (downstream of altered splice site)
323329HELIXmight get lost (downstream of altered splice site)
326326CONFLICTV -> I (in Ref. 3; CAA25838).might get lost (downstream of altered splice site)
334336HELIXmight get lost (downstream of altered splice site)
337340STRANDmight get lost (downstream of altered splice site)
343345TURNmight get lost (downstream of altered splice site)
346349STRANDmight get lost (downstream of altered splice site)
355364STRANDmight get lost (downstream of altered splice site)
366371STRANDmight get lost (downstream of altered splice site)
368392REGIONRCL.might get lost (downstream of altered splice site)
374376HELIXmight get lost (downstream of altered splice site)
375418PEPTIDEShort peptide from AAT. /FTId=PRO_0000364030.might get lost (downstream of altered splice site)
379383STRANDmight get lost (downstream of altered splice site)
382382MUTAGENM->V: Oxidation-resistant inhibitor of therapeutic importance.might get lost (downstream of altered splice site)
382383SITEReactive bond.might get lost (downstream of altered splice site)
387389STRANDmight get lost (downstream of altered splice site)
394400STRANDmight get lost (downstream of altered splice site)
401403TURNmight get lost (downstream of altered splice site)
406413STRANDmight get lost (downstream of altered splice site)
410410CONFLICTG -> L (in Ref. 24; AA sequence).might get lost (downstream of altered splice site)
414414CONFLICTN -> S (in Ref. 24; AA sequence).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1257 / 1257
position (AA) of stopcodon in wt / mu AA sequence 419 / 419
position of stopcodon in wt / mu cDNA 1534 / 1534
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 278 / 278
chromosome 14
strand -1
last intron/exon boundary 1343
theoretical NMD boundary in CDS 1015
length of CDS 1257
coding sequence (CDS) position 710
cDNA position
(for ins/del: last normal base / first normal base)		 987
gDNA position
(for ins/del: last normal base / first normal base)		 9616
chromosomal position
(for ins/del: last normal base / first normal base)		 94847415
original gDNA sequence snippet GGACTTCCACGTGGACCAGGTGACCACCGTGAAGGTGCCTA
altered gDNA sequence snippet GGACTTCCACGTGGACCAGGCGACCACCGTGAAGGTGCCTA
original cDNA sequence snippet GGACTTCCACGTGGACCAGGTGACCACCGTGAAGGTGCCTA
altered cDNA sequence snippet GGACTTCCACGTGGACCAGGCGACCACCGTGAAGGTGCCTA
wildtype AA sequence MPSSVSWGIL LLAGLCCLVP VSLAEDPQGD AAQKTDTSHH DQDHPTFNKI TPNLAEFAFS
LYRQLAHQSN STNIFFSPVS IATAFAMLSL GTKADTHDEI LEGLNFNLTE IPEAQIHEGF
QELLRTLNQP DSQLQLTTGN GLFLSEGLKL VDKFLEDVKK LYHSEAFTVN FGDTEEAKKQ
INDYVEKGTQ GKIVDLVKEL DRDTVFALVN YIFFKGKWER PFEVKDTEEE DFHVDQVTTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMIE QNTKSPLFMG KVVNPTQK*
mutated AA sequence MPSSVSWGIL LLAGLCCLVP VSLAEDPQGD AAQKTDTSHH DQDHPTFNKI TPNLAEFAFS
LYRQLAHQSN STNIFFSPVS IATAFAMLSL GTKADTHDEI LEGLNFNLTE IPEAQIHEGF
QELLRTLNQP DSQLQLTTGN GLFLSEGLKL VDKFLEDVKK LYHSEAFTVN FGDTEEAKKQ
INDYVEKGTQ GKIVDLVKEL DRDTVFALVN YIFFKGKWER PFEVKDTEEE DFHVDQATTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMIE QNTKSPLFMG KVVNPTQK*
speed 0.16 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