Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 2.64433863604611e-27 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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 ENST00000424550
Genbank transcript ID N/A
UniProt peptide Q86WD7
alteration type single base exchange
alteration region intron
DNA changes g.10126C>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
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 splice site change before start ATG (at aa -5) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor gained101220.59mu: ACCAAGACCGAGATT CAAG|accg
distance from splice site 98
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
123SIGNALPotential.might get lost (downstream of altered splice site)
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 N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 226 / 226
chromosome 14
strand -1
last intron/exon boundary 883
theoretical NMD boundary in CDS 607
length of CDS 861
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
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 N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MGSALFVKKE LQLQANFLGN VKRLYEAEVF STDFSNPSIA QARINSHVKK KTQGKVVDII
QGLDLLTAMV LVNHIFFKAK WEKPFHPEYT RKNFPFLVGE QVTVHVPMMH QKEQFAFGVD
TELNCFVLQM DYKGDAVAFF VLPSKGKMRQ LEQALSARTL RKWSHSLQKR WIEVFIPRFS
ISASYNLETI LPKMGIQNVF DKNADFSGIA KRDSLQVSKA THKAVLDVSE EGTEATAATT
TKFIVRSKDG PSYFTVSFNR TFLMMITNKA TDGILFLGKV ENPTKS*
mutated AA sequence N/A
speed 1.06 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