Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999022 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:94931105A>GN/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.749T>C
cDNA.879T>C
g.14922T>C
AA changes V250A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 250
frameshift no
known variant Reference ID: rs11628722
databasehomozygous (G/G)heterozygousallele carriers
1000G12538802133
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0840.073
-0.1080.032
(flanking)2.1630.039
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased14913wt: 0.6966 / mu: 0.7252 (marginal change - not scored)wt: GGGCATCCAAAATGT
mu: GGGCATCCAAAATGC		 GCAT|ccaa
distance from splice site 62
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      250ETILPKMGIQNVFDKNADFSGIAK
mutated  not conserved    250ILPKMGIQNAFDKNADFSGIA
Ptroglodytes  not conserved  ENSPTRG00000006681  330ILPKMGIQNAFDENADFSGIT
Mmulatta  all identical  ENSMMUG00000012356  330ILPKMGIQNVFDENADFSGIT
Fcatus  not conserved  ENSFCAG00000010234  331LPKMGIWDAFNXXXXXXXXX
Mmusculus  not conserved  ENSMUSG00000058260  332ILPKMGIRDAFNSNADFSGIT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
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 749
cDNA position
(for ins/del: last normal base / first normal base)		 879
gDNA position
(for ins/del: last normal base / first normal base)		 14922
chromosomal position
(for ins/del: last normal base / first normal base)		 94931105
original gDNA sequence snippet GAAGATGGGCATCCAAAATGTCTTTGACAAAAATGCTGATT
altered gDNA sequence snippet GAAGATGGGCATCCAAAATGCCTTTGACAAAAATGCTGATT
original cDNA sequence snippet GAAGATGGGCATCCAAAATGTCTTTGACAAAAATGCTGATT
altered cDNA sequence snippet GAAGATGGGCATCCAAAATGCCTTTGACAAAAATGCTGATT
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 KTQILQGLGF NLTHTPESAI HQGFQHLVHS LTVPSKDLTL KMGSALFVKK
ELQLQANFLG NVKRLYEAEV FSTDFSNPSI AQARINSHVK KKTQGKVVDI IQGLDLLTAM
VLVNHIFFKA KWEKPFHPEY TRKNFPFLVG EQVTVHVPMM HQKEQFAFGV DTELNCFVLQ
MDYKGDAVAF FVLPSKGKMR QLEQALSART LRKWSHSLQK RWIEVFIPRF SISASYNLET
ILPKMGIQNA FDKNADFSGI AKRDSLQVSK ATHKAVLDVS EEGTEATAAT TTKFIVRSKD
GPSYFTVSFN RTFLMMITNK ATDGILFLGK VENPTKS*
speed 1.05 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