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 8 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: ENST00000448921
Querying Taster for transcript #7: ENST00000437397
Querying Taster for transcript #8: ENST00000355814
MT speed 0 s - this script 8.448034 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
SERPINA1polymorphism_automatic3.69090313867559e-11simple_aaeaffectedE400Dsingle base exchangers1303show file
SERPINA1polymorphism_automatic3.69090313867559e-11simple_aaeaffectedE400Dsingle base exchangers1303show file
SERPINA1polymorphism_automatic3.69090313867559e-11simple_aaeaffectedE400Dsingle base exchangers1303show file
SERPINA1polymorphism_automatic3.69090313867559e-11simple_aaeaffectedE400Dsingle base exchangers1303show file
SERPINA1polymorphism_automatic3.69090313867559e-11simple_aaeaffectedE400Dsingle base exchangers1303show file
SERPINA1polymorphism_automatic3.69090313867559e-11simple_aaeaffectedE400Dsingle base exchangers1303show file
SERPINA1polymorphism_automatic3.69090313867559e-11simple_aaeaffectedE400Dsingle base exchangers1303show file
SERPINA1polymorphism_automatic3.69090313867559e-11simple_aaeaffectedE400Dsingle base exchangers1303show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999963091 (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) chr14:94844843T>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.1200A>C
cDNA.1385A>C
g.12188A>C
AA changes E400D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 400
frameshift no
known variant Reference ID: rs1303
databasehomozygous (G/G)heterozygousallele carriers
1000G2578901147
ExAC50052275727762
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.2650
-2.2120
(flanking)0.9910.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased12182wt: 0.9480 / mu: 0.9498 (marginal change - not scored)wt: AAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTC
mu: AAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTC		 aatg|ATTG
Acc marginally increased12179wt: 0.9026 / mu: 0.9278 (marginal change - not scored)wt: AACAAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAA
mu: AACAAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAA		 ctta|ATGA
Acc marginally increased12183wt: 0.7814 / mu: 0.8338 (marginal change - not scored)wt: AACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTCT
mu: AACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTCT		 atga|TTGA
Acc increased12186wt: 0.23 / mu: 0.27wt: CCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCC
mu: CCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCC		 attg|AACA
Acc marginally increased12180wt: 0.9604 / mu: 0.9695 (marginal change - not scored)wt: ACAAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAG
mu: ACAAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAG		 ttaa|TGAT
Donor marginally increased12187wt: 0.9559 / mu: 0.9784 (marginal change - not scored)wt: GATTGAACAAAATAC
mu: GATTGACCAAAATAC		 TTGA|acaa
distance from splice site 135
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      400KFNKPFVFLMIEQNTKSPLFMGKV
mutated  all conserved    400KFNKPFVFLMIDQNTKSPLFMGK
Ptroglodytes  all identical  ENSPTRG00000023666  400KFNKPFVFLMIEQNTKSPLFVGK
Mmulatta  all identical  ENSMMUG00000020426  400KFNKPFVFLMIEQNTKSPLFMGK
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021081  394QLNRPFLIFIQDHTNDVPLFLGR
Ggallus  all conserved  ENSGALG00000010969  401EFNRPFLMLIFDRDTNSTLFIGK
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000023329  420YDPIPKSILFVAK
protein features
start (aa)end (aa)featuredetails 
375418PEPTIDEShort peptide from AAT. /FTId=PRO_0000364030.lost
394400STRANDlost
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 1200
cDNA position
(for ins/del: last normal base / first normal base)		 1385
gDNA position
(for ins/del: last normal base / first normal base)		 12188
chromosomal position
(for ins/del: last normal base / first normal base)		 94844843
original gDNA sequence snippet TTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCCCT
altered gDNA sequence snippet TTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCCCT
original cDNA sequence snippet TTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCCCT
altered cDNA sequence snippet TTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCCCT
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 DFHVDQVTTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMID QNTKSPLFMG KVVNPTQK*
speed 1.39 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: 0.999999999963091 (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) chr14:94844843T>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.1200A>C
cDNA.1465A>C
g.12188A>C
AA changes E400D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 400
frameshift no
known variant Reference ID: rs1303
databasehomozygous (G/G)heterozygousallele carriers
1000G2578901147
ExAC50052275727762
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.2650
-2.2120
(flanking)0.9910.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased12182wt: 0.9480 / mu: 0.9498 (marginal change - not scored)wt: AAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTC
mu: AAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTC		 aatg|ATTG
Acc marginally increased12179wt: 0.9026 / mu: 0.9278 (marginal change - not scored)wt: AACAAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAA
mu: AACAAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAA		 ctta|ATGA
Acc marginally increased12183wt: 0.7814 / mu: 0.8338 (marginal change - not scored)wt: AACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTCT
mu: AACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTCT		 atga|TTGA
Acc increased12186wt: 0.23 / mu: 0.27wt: CCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCC
mu: CCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCC		 attg|AACA
Acc marginally increased12180wt: 0.9604 / mu: 0.9695 (marginal change - not scored)wt: ACAAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAG
mu: ACAAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAG		 ttaa|TGAT
Donor marginally increased12187wt: 0.9559 / mu: 0.9784 (marginal change - not scored)wt: GATTGAACAAAATAC
mu: GATTGACCAAAATAC		 TTGA|acaa
distance from splice site 135
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      400KFNKPFVFLMIEQNTKSPLFMGKV
mutated  all conserved    400KFNKPFVFLMIDQNTKSPLFMGK
Ptroglodytes  all identical  ENSPTRG00000023666  400KFNKPFVFLMIEQNTKSPLFVGK
Mmulatta  all identical  ENSMMUG00000020426  400KFNKPFVFLMIEQNTKSPLFMGK
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021081  394QLNRPFLIFIQDHTNDVPLFLGR
Ggallus  all conserved  ENSGALG00000010969  401EFNRPFLMLIFDRDTNSTLFIGK
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000023329  420YDPIPKSILFVAK
protein features
start (aa)end (aa)featuredetails 
375418PEPTIDEShort peptide from AAT. /FTId=PRO_0000364030.lost
394400STRANDlost
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 1200
cDNA position
(for ins/del: last normal base / first normal base)		 1465
gDNA position
(for ins/del: last normal base / first normal base)		 12188
chromosomal position
(for ins/del: last normal base / first normal base)		 94844843
original gDNA sequence snippet TTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCCCT
altered gDNA sequence snippet TTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCCCT
original cDNA sequence snippet TTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCCCT
altered cDNA sequence snippet TTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCCCT
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 DFHVDQVTTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMID QNTKSPLFMG KVVNPTQK*
speed 1.42 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: 0.999999999963091 (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) chr14:94844843T>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.1200A>C
cDNA.1755A>C
g.12188A>C
AA changes E400D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 400
frameshift no
known variant Reference ID: rs1303
databasehomozygous (G/G)heterozygousallele carriers
1000G2578901147
ExAC50052275727762
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.2650
-2.2120
(flanking)0.9910.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased12182wt: 0.9480 / mu: 0.9498 (marginal change - not scored)wt: AAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTC
mu: AAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTC		 aatg|ATTG
Acc marginally increased12179wt: 0.9026 / mu: 0.9278 (marginal change - not scored)wt: AACAAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAA
mu: AACAAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAA		 ctta|ATGA
Acc marginally increased12183wt: 0.7814 / mu: 0.8338 (marginal change - not scored)wt: AACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTCT
mu: AACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTCT		 atga|TTGA
Acc increased12186wt: 0.23 / mu: 0.27wt: CCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCC
mu: CCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCC		 attg|AACA
Acc marginally increased12180wt: 0.9604 / mu: 0.9695 (marginal change - not scored)wt: ACAAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAG
mu: ACAAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAG		 ttaa|TGAT
Donor marginally increased12187wt: 0.9559 / mu: 0.9784 (marginal change - not scored)wt: GATTGAACAAAATAC
mu: GATTGACCAAAATAC		 TTGA|acaa
distance from splice site 131
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      400KFNKPFVFLMIEQNTKSPLFMGKV
mutated  all conserved    400KFNKPFVFLMIDQNTKSPLFMGK
Ptroglodytes  all identical  ENSPTRG00000023666  400KFNKPFVFLMIEQNTKSPLFVGK
Mmulatta  all identical  ENSMMUG00000020426  400KFNKPFVFLMIEQNTKSPLFMGK
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021081  394QLNRPFLIFIQDHTNDVPLFLGR
Ggallus  all conserved  ENSGALG00000010969  401EFNRPFLMLIFDRDTNSTLFIGK
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000023329  420YDPIPKSILFVAK
protein features
start (aa)end (aa)featuredetails 
375418PEPTIDEShort peptide from AAT. /FTId=PRO_0000364030.lost
394400STRANDlost
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 1200
cDNA position
(for ins/del: last normal base / first normal base)		 1755
gDNA position
(for ins/del: last normal base / first normal base)		 12188
chromosomal position
(for ins/del: last normal base / first normal base)		 94844843
original gDNA sequence snippet TTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCCCT
altered gDNA sequence snippet TTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCCCT
original cDNA sequence snippet TTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCCCT
altered cDNA sequence snippet TTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCCCT
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 DFHVDQVTTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMID QNTKSPLFMG KVVNPTQK*
speed 1.36 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: 0.999999999963091 (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) chr14:94844843T>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.1200A>C
cDNA.1511A>C
g.12188A>C
AA changes E400D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 400
frameshift no
known variant Reference ID: rs1303
databasehomozygous (G/G)heterozygousallele carriers
1000G2578901147
ExAC50052275727762
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.2650
-2.2120
(flanking)0.9910.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased12182wt: 0.9480 / mu: 0.9498 (marginal change - not scored)wt: AAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTC
mu: AAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTC		 aatg|ATTG
Acc marginally increased12179wt: 0.9026 / mu: 0.9278 (marginal change - not scored)wt: AACAAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAA
mu: AACAAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAA		 ctta|ATGA
Acc marginally increased12183wt: 0.7814 / mu: 0.8338 (marginal change - not scored)wt: AACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTCT
mu: AACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTCT		 atga|TTGA
Acc increased12186wt: 0.23 / mu: 0.27wt: CCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCC
mu: CCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCC		 attg|AACA
Acc marginally increased12180wt: 0.9604 / mu: 0.9695 (marginal change - not scored)wt: ACAAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAG
mu: ACAAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAG		 ttaa|TGAT
Donor marginally increased12187wt: 0.9559 / mu: 0.9784 (marginal change - not scored)wt: GATTGAACAAAATAC
mu: GATTGACCAAAATAC		 TTGA|acaa
distance from splice site 118
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      400KFNKPFVFLMIEQNTKSPLFMGKV
mutated  all conserved    400KFNKPFVFLMIDQNTKSPLFMGK
Ptroglodytes  all identical  ENSPTRG00000023666  400KFNKPFVFLMIEQNTKSPLFVGK
Mmulatta  all identical  ENSMMUG00000020426  400KFNKPFVFLMIEQNTKSPLFMGK
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021081  394QLNRPFLIFIQDHTNDVPLFLGR
Ggallus  all conserved  ENSGALG00000010969  401EFNRPFLMLIFDRDTNSTLFIGK
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000023329  420YDPIPKSILFVAK
protein features
start (aa)end (aa)featuredetails 
375418PEPTIDEShort peptide from AAT. /FTId=PRO_0000364030.lost
394400STRANDlost
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 1200
cDNA position
(for ins/del: last normal base / first normal base)		 1511
gDNA position
(for ins/del: last normal base / first normal base)		 12188
chromosomal position
(for ins/del: last normal base / first normal base)		 94844843
original gDNA sequence snippet TTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCCCT
altered gDNA sequence snippet TTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCCCT
original cDNA sequence snippet TTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCCCT
altered cDNA sequence snippet TTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCCCT
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 DFHVDQVTTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMID QNTKSPLFMG KVVNPTQK*
speed 1.36 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: 0.999999999963091 (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) chr14:94844843T>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.1200A>C
cDNA.1502A>C
g.12188A>C
AA changes E400D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 400
frameshift no
known variant Reference ID: rs1303
databasehomozygous (G/G)heterozygousallele carriers
1000G2578901147
ExAC50052275727762
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.2650
-2.2120
(flanking)0.9910.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased12182wt: 0.9480 / mu: 0.9498 (marginal change - not scored)wt: AAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTC
mu: AAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTC		 aatg|ATTG
Acc marginally increased12179wt: 0.9026 / mu: 0.9278 (marginal change - not scored)wt: AACAAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAA
mu: AACAAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAA		 ctta|ATGA
Acc marginally increased12183wt: 0.7814 / mu: 0.8338 (marginal change - not scored)wt: AACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTCT
mu: AACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTCT		 atga|TTGA
Acc increased12186wt: 0.23 / mu: 0.27wt: CCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCC
mu: CCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCC		 attg|AACA
Acc marginally increased12180wt: 0.9604 / mu: 0.9695 (marginal change - not scored)wt: ACAAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAG
mu: ACAAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAG		 ttaa|TGAT
Donor marginally increased12187wt: 0.9559 / mu: 0.9784 (marginal change - not scored)wt: GATTGAACAAAATAC
mu: GATTGACCAAAATAC		 TTGA|acaa
distance from splice site 58
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      400KFNKPFVFLMIEQNTKSPLFMGKV
mutated  all conserved    400KFNKPFVFLMIDQNTKSPLFMGK
Ptroglodytes  all identical  ENSPTRG00000023666  400KFNKPFVFLMIEQNTKSPLFVGK
Mmulatta  all identical  ENSMMUG00000020426  400KFNKPFVFLMIEQNTKSPLFMGK
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021081  394QLNRPFLIFIQDHTNDVPLFLGR
Ggallus  all conserved  ENSGALG00000010969  401EFNRPFLMLIFDRDTNSTLFIGK
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000023329  420YDPIPKSILFVAK
protein features
start (aa)end (aa)featuredetails 
375418PEPTIDEShort peptide from AAT. /FTId=PRO_0000364030.lost
394400STRANDlost
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 1200
cDNA position
(for ins/del: last normal base / first normal base)		 1502
gDNA position
(for ins/del: last normal base / first normal base)		 12188
chromosomal position
(for ins/del: last normal base / first normal base)		 94844843
original gDNA sequence snippet TTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCCCT
altered gDNA sequence snippet TTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCCCT
original cDNA sequence snippet TTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCCCT
altered cDNA sequence snippet TTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCCCT
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 DFHVDQVTTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMID QNTKSPLFMG KVVNPTQK*
speed 1.33 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: 0.999999999963091 (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) chr14:94844843T>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.1200A>C
cDNA.1773A>C
g.12188A>C
AA changes E400D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 400
frameshift no
known variant Reference ID: rs1303
databasehomozygous (G/G)heterozygousallele carriers
1000G2578901147
ExAC50052275727762
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.2650
-2.2120
(flanking)0.9910.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased12182wt: 0.9480 / mu: 0.9498 (marginal change - not scored)wt: AAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTC
mu: AAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTC		 aatg|ATTG
Acc marginally increased12179wt: 0.9026 / mu: 0.9278 (marginal change - not scored)wt: AACAAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAA
mu: AACAAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAA		 ctta|ATGA
Acc marginally increased12183wt: 0.7814 / mu: 0.8338 (marginal change - not scored)wt: AACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTCT
mu: AACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTCT		 atga|TTGA
Acc increased12186wt: 0.23 / mu: 0.27wt: CCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCC
mu: CCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCC		 attg|AACA
Acc marginally increased12180wt: 0.9604 / mu: 0.9695 (marginal change - not scored)wt: ACAAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAG
mu: ACAAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAG		 ttaa|TGAT
Donor marginally increased12187wt: 0.9559 / mu: 0.9784 (marginal change - not scored)wt: GATTGAACAAAATAC
mu: GATTGACCAAAATAC		 TTGA|acaa
distance from splice site 135
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      400KFNKPFVFLMIEQNTKSPLFMGKV
mutated  all conserved    400KFNKPFVFLMIDQNTKSPLFMGK
Ptroglodytes  all identical  ENSPTRG00000023666  400KFNKPFVFLMIEQNTKSPLFVGK
Mmulatta  all identical  ENSMMUG00000020426  400KFNKPFVFLMIEQNTKSPLFMGK
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021081  394QLNRPFLIFIQDHTNDVPLFLGR
Ggallus  all conserved  ENSGALG00000010969  401EFNRPFLMLIFDRDTNSTLFIGK
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000023329  420YDPIPKSILFVAK
protein features
start (aa)end (aa)featuredetails 
375418PEPTIDEShort peptide from AAT. /FTId=PRO_0000364030.lost
394400STRANDlost
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 1200
cDNA position
(for ins/del: last normal base / first normal base)		 1773
gDNA position
(for ins/del: last normal base / first normal base)		 12188
chromosomal position
(for ins/del: last normal base / first normal base)		 94844843
original gDNA sequence snippet TTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCCCT
altered gDNA sequence snippet TTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCCCT
original cDNA sequence snippet TTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCCCT
altered cDNA sequence snippet TTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCCCT
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 DFHVDQVTTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMID QNTKSPLFMG KVVNPTQK*
speed 1.27 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: 0.999999999963091 (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) chr14:94844843T>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.1200A>C
cDNA.1581A>C
g.12188A>C
AA changes E400D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 400
frameshift no
known variant Reference ID: rs1303
databasehomozygous (G/G)heterozygousallele carriers
1000G2578901147
ExAC50052275727762
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.2650
-2.2120
(flanking)0.9910.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased12182wt: 0.9480 / mu: 0.9498 (marginal change - not scored)wt: AAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTC
mu: AAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTC		 aatg|ATTG
Acc marginally increased12179wt: 0.9026 / mu: 0.9278 (marginal change - not scored)wt: AACAAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAA
mu: AACAAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAA		 ctta|ATGA
Acc marginally increased12183wt: 0.7814 / mu: 0.8338 (marginal change - not scored)wt: AACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTCT
mu: AACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTCT		 atga|TTGA
Acc increased12186wt: 0.23 / mu: 0.27wt: CCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCC
mu: CCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCC		 attg|AACA
Acc marginally increased12180wt: 0.9604 / mu: 0.9695 (marginal change - not scored)wt: ACAAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAG
mu: ACAAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAG		 ttaa|TGAT
Donor marginally increased12187wt: 0.9559 / mu: 0.9784 (marginal change - not scored)wt: GATTGAACAAAATAC
mu: GATTGACCAAAATAC		 TTGA|acaa
distance from splice site 135
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      400KFNKPFVFLMIEQNTKSPLFMGKV
mutated  all conserved    400KFNKPFVFLMIDQNTKSPLFMGK
Ptroglodytes  all identical  ENSPTRG00000023666  400KFNKPFVFLMIEQNTKSPLFVGK
Mmulatta  all identical  ENSMMUG00000020426  400KFNKPFVFLMIEQNTKSPLFMGK
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021081  394QLNRPFLIFIQDHTNDVPLFLGR
Ggallus  all conserved  ENSGALG00000010969  401EFNRPFLMLIFDRDTNSTLFIGK
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000023329  420YDPIPKSILFVAK
protein features
start (aa)end (aa)featuredetails 
375418PEPTIDEShort peptide from AAT. /FTId=PRO_0000364030.lost
394400STRANDlost
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 1200
cDNA position
(for ins/del: last normal base / first normal base)		 1581
gDNA position
(for ins/del: last normal base / first normal base)		 12188
chromosomal position
(for ins/del: last normal base / first normal base)		 94844843
original gDNA sequence snippet TTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCCCT
altered gDNA sequence snippet TTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCCCT
original cDNA sequence snippet TTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCCCT
altered cDNA sequence snippet TTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCCCT
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 DFHVDQVTTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMID QNTKSPLFMG KVVNPTQK*
speed 1.30 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: 0.999999999963091 (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) chr14:94844843T>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.1200A>C
cDNA.1477A>C
g.12188A>C
AA changes E400D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 400
frameshift no
known variant Reference ID: rs1303
databasehomozygous (G/G)heterozygousallele carriers
1000G2578901147
ExAC50052275727762
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.2650
-2.2120
(flanking)0.9910.007
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased12182wt: 0.9480 / mu: 0.9498 (marginal change - not scored)wt: AAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTC
mu: AAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTC		 aatg|ATTG
Acc marginally increased12179wt: 0.9026 / mu: 0.9278 (marginal change - not scored)wt: AACAAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAA
mu: AACAAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAA		 ctta|ATGA
Acc marginally increased12183wt: 0.7814 / mu: 0.8338 (marginal change - not scored)wt: AACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTCT
mu: AACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTCT		 atga|TTGA
Acc increased12186wt: 0.23 / mu: 0.27wt: CCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCC
mu: CCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCC		 attg|AACA
Acc marginally increased12180wt: 0.9604 / mu: 0.9695 (marginal change - not scored)wt: ACAAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAG
mu: ACAAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAG		 ttaa|TGAT
Donor marginally increased12187wt: 0.9559 / mu: 0.9784 (marginal change - not scored)wt: GATTGAACAAAATAC
mu: GATTGACCAAAATAC		 TTGA|acaa
distance from splice site 135
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      400KFNKPFVFLMIEQNTKSPLFMGKV
mutated  all conserved    400KFNKPFVFLMIDQNTKSPLFMGK
Ptroglodytes  all identical  ENSPTRG00000023666  400KFNKPFVFLMIEQNTKSPLFVGK
Mmulatta  all identical  ENSMMUG00000020426  400KFNKPFVFLMIEQNTKSPLFMGK
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021081  394QLNRPFLIFIQDHTNDVPLFLGR
Ggallus  all conserved  ENSGALG00000010969  401EFNRPFLMLIFDRDTNSTLFIGK
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000023329  420YDPIPKSILFVAK
protein features
start (aa)end (aa)featuredetails 
375418PEPTIDEShort peptide from AAT. /FTId=PRO_0000364030.lost
394400STRANDlost
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 1200
cDNA position
(for ins/del: last normal base / first normal base)		 1477
gDNA position
(for ins/del: last normal base / first normal base)		 12188
chromosomal position
(for ins/del: last normal base / first normal base)		 94844843
original gDNA sequence snippet TTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCCCT
altered gDNA sequence snippet TTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCCCT
original cDNA sequence snippet TTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCCCT
altered cDNA sequence snippet TTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCCCT
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 DFHVDQVTTV
KVPMMKRLGM FNIQHCKKLS SWVLLMKYLG NATAIFFLPD EGKLQHLENE LTHDIITKFL
ENEDRRSASL HLPKLSITGT YDLKSVLGQL GITKVFSNGA DLSGVTEEAP LKLSKAVHKA
VLTIDEKGTE AAGAMFLEAI PMSIPPEVKF NKPFVFLMID QNTKSPLFMG KVVNPTQK*
speed 0.89 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Problems