Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.145504117994575 (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 ENST00000380365
Genbank transcript ID N/A
UniProt peptide Q86WD7
alteration type single base exchange
alteration region CDS
DNA changes c.277C>G
cDNA.356C>G
g.10126C>G
AA changes Q93E Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 93
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 294
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      93LSLGAHSVTKTQILQGLGFNLTHT
mutated  all conserved    93LSLGAHSVTKTEILQGLGFNLTH
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 
9393CONFLICTQ -> E (in Ref. 4; BAG62686).lost
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 1254 / 1254
position (AA) of stopcodon in wt / mu AA sequence 418 / 418
position of stopcodon in wt / mu cDNA 1333 / 1333
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 80 / 80
chromosome 14
strand -1
last intron/exon boundary 1130
theoretical NMD boundary in CDS 1000
length of CDS 1254
coding sequence (CDS) position 277
cDNA position
(for ins/del: last normal base / first normal base)		 356
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 MASYLYGVLF AVGLCAPIYC VSPANAPSAY PRPSSTKSTP ASQVYSLNTD FAFRLYRRLV
LETPSQNIFF SPVSVSTSLA 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 MASYLYGVLF AVGLCAPIYC VSPANAPSAY PRPSSTKSTP ASQVYSLNTD FAFRLYRRLV
LETPSQNIFF SPVSVSTSLA 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 1.10 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