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 increased12180wt: 0.9604 / mu: 0.9695 (marginal change - not scored)wt: ACAAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAG
mu: ACAAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAG		 ttaa|TGAT
Acc marginally increased12183wt: 0.7814 / mu: 0.8338 (marginal change - not scored)wt: AACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTCT
mu: AACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTCT		 atga|TTGA
Acc marginally increased12179wt: 0.9026 / mu: 0.9278 (marginal change - not scored)wt: AACAAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAA
mu: AACAAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAA		 ctta|ATGA
Acc increased12186wt: 0.23 / mu: 0.27wt: CCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTCTCCC
mu: CCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTCTCCC		 attg|AACA
Acc marginally increased12182wt: 0.9480 / mu: 0.9498 (marginal change - not scored)wt: AAACCCTTTGTCTTCTTAATGATTGAACAAAATACCAAGTC
mu: AAACCCTTTGTCTTCTTAATGATTGACCAAAATACCAAGTC		 aatg|ATTG
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 1.21 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