Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.424161641594376 (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) chr14:94935901G>CN/A show variant in all transcripts   IGV
HGNC symbol SERPINA9
Ensembl transcript ID ENST00000448305
Genbank transcript ID N/A
UniProt peptide Q86WD7
alteration type single base exchange
alteration region CDS
DNA changes c.37C>G
cDNA.167C>G
g.10126C>G
AA changes Q13E Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 13
frameshift no
known variant Reference ID: rs12879019
databasehomozygous (C/C)heterozygousallele carriers
1000G126641767
ExAC28361935922195
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)2.7131
3.4020.996
(flanking)-0.2630.107
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained101220.59mu: ACCAAGACCGAGATT CAAG|accg
distance from splice site 104
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      13LSLGAHSVTKTQILQGLGFNLTHT
mutated  all conserved    13LSLGAHSVTKTEILQGLGFNLTH
Ptroglodytes  all identical  ENSPTRG00000006681  93LSLGAHSVTKTQILQGLGFNLTH
Mmulatta  all identical  ENSMMUG00000012356  93LSLGAHSVTKTQILEGLGFNLTH
Fcatus  all identical  ENSFCAG00000010234  94LSLGARSATKTQILQGLGFNLTH
Mmusculus  all identical  ENSMUSG00000058260  95LSLGARSATKTQILRTLGFNFTW
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
123SIGNALPotential.lost
2323CONFLICTP -> L (in Ref. 1; AAO65242/AAO65243 and 3; AAQ89063).might get lost (downstream of altered splice site)
9393CONFLICTQ -> E (in Ref. 4; BAG62686).might get lost (downstream of altered splice site)
101101CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
174174CONFLICTR -> G (in Ref. 1; AAO65245).might get lost (downstream of altered splice site)
207207CONFLICTF -> S (in Ref. 4; BAG62686).might get lost (downstream of altered splice site)
224224CONFLICTN -> D (in Ref. 1; AAO65242).might get lost (downstream of altered splice site)
228228CONFLICTL -> P (in Ref. 1; AAO65244).might get lost (downstream of altered splice site)
371371CONFLICTT -> A (in Ref. 1; AAO65242).might get lost (downstream of altered splice site)
390390CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
411411CONFLICTV -> A (in Ref. 1; AAO65243 and 4; BAG62686).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1014 / 1014
position (AA) of stopcodon in wt / mu AA sequence 338 / 338
position of stopcodon in wt / mu cDNA 1144 / 1144
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 131 / 131
chromosome 14
strand -1
last intron/exon boundary 941
theoretical NMD boundary in CDS 760
length of CDS 1014
coding sequence (CDS) position 37
cDNA position
(for ins/del: last normal base / first normal base)		 167
gDNA position
(for ins/del: last normal base / first normal base)		 10126
chromosomal position
(for ins/del: last normal base / first normal base)		 94935901
original gDNA sequence snippet CCCACTCAGTCACCAAGACCCAGATTCTCCAGGGCCTGGGC
altered gDNA sequence snippet CCCACTCAGTCACCAAGACCGAGATTCTCCAGGGCCTGGGC
original cDNA sequence snippet CCCACTCAGTCACCAAGACCCAGATTCTCCAGGGCCTGGGC
altered cDNA sequence snippet CCCACTCAGTCACCAAGACCGAGATTCTCCAGGGCCTGGGC
wildtype AA sequence MLSLGAHSVT KTQILQGLGF NLTHTPESAI HQGFQHLVHS LTVPSKDLTL KMGSALFVKK
ELQLQANFLG NVKRLYEAEV FSTDFSNPSI AQARINSHVK KKTQGKVVDI IQGLDLLTAM
VLVNHIFFKA KWEKPFHPEY TRKNFPFLVG EQVTVHVPMM HQKEQFAFGV DTELNCFVLQ
MDYKGDAVAF FVLPSKGKMR QLEQALSART LRKWSHSLQK RWIEVFIPRF SISASYNLET
ILPKMGIQNV FDKNADFSGI AKRDSLQVSK ATHKAVLDVS EEGTEATAAT TTKFIVRSKD
GPSYFTVSFN RTFLMMITNK ATDGILFLGK VENPTKS*
mutated AA sequence MLSLGAHSVT KTEILQGLGF NLTHTPESAI HQGFQHLVHS LTVPSKDLTL KMGSALFVKK
ELQLQANFLG NVKRLYEAEV FSTDFSNPSI AQARINSHVK KKTQGKVVDI IQGLDLLTAM
VLVNHIFFKA KWEKPFHPEY TRKNFPFLVG EQVTVHVPMM HQKEQFAFGV DTELNCFVLQ
MDYKGDAVAF FVLPSKGKMR QLEQALSART LRKWSHSLQK RWIEVFIPRF SISASYNLET
ILPKMGIQNV FDKNADFSGI AKRDSLQVSK ATHKAVLDVS EEGTEATAAT TTKFIVRSKD
GPSYFTVSFN RTFLMMITNK ATDGILFLGK VENPTKS*
speed 0.65 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