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 ENST00000298845
Genbank transcript ID NM_001042518
UniProt peptide Q86WD7
alteration type single base exchange
alteration region CDS
DNA changes c.743T>C
cDNA.782T>C
g.14922T>C
AA changes V248A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 248
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      248ETILPKMGIQNVFDKNADFSGIAK
mutated  not conserved    248PKMGIQNAFDKNADFSGIA
Ptroglodytes  not conserved  ENSPTRG00000006681  330ETILPKMGIQNAFDE
Mmulatta  all identical  ENSMMUG00000012356  330EAILPKMGIQNVFDE
Fcatus  not conserved  ENSFCAG00000010234  331ETILPKMGIWDAFNX
Mmusculus  not conserved  ENSMUSG00000058260  332PKMGIRDAFNSNADFSGIT
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 1008 / 1008
position (AA) of stopcodon in wt / mu AA sequence 336 / 336
position of stopcodon in wt / mu cDNA 1047 / 1047
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 40 / 40
chromosome 14
strand -1
last intron/exon boundary 844
theoretical NMD boundary in CDS 754
length of CDS 1008
coding sequence (CDS) position 743
cDNA position
(for ins/del: last normal base / first normal base)		 782
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 MQGQGRRRGT CKDIFCSKMA SYLYGVLFAV GLCAPIYCVS PANAPSAYPR PSSTKSTPAS
QVYSLNTDFA FRLYRRLVLE TPSQNIFFSP ARINSHVKKK TQGKVVDIIQ GLDLLTAMVL
VNHIFFKAKW EKPFHPEYTR KNFPFLVGEQ VTVHVPMMHQ KEQFAFGVDT ELNCFVLQMD
YKGDAVAFFV LPSKGKMRQL EQALSARTLR KWSHSLQKRW IEVFIPRFSI SASYNLETIL
PKMGIQNVFD KNADFSGIAK RDSLQVSKAT HKAVLDVSEE GTEATAATTT KFIVRSKDGP
SYFTVSFNRT FLMMITNKAT DGILFLGKVE NPTKS*
mutated AA sequence MQGQGRRRGT CKDIFCSKMA SYLYGVLFAV GLCAPIYCVS PANAPSAYPR PSSTKSTPAS
QVYSLNTDFA FRLYRRLVLE TPSQNIFFSP ARINSHVKKK TQGKVVDIIQ GLDLLTAMVL
VNHIFFKAKW EKPFHPEYTR KNFPFLVGEQ VTVHVPMMHQ KEQFAFGVDT ELNCFVLQMD
YKGDAVAFFV LPSKGKMRQL EQALSARTLR KWSHSLQKRW IEVFIPRFSI SASYNLETIL
PKMGIQNAFD KNADFSGIAK RDSLQVSKAT HKAVLDVSEE GTEATAATTT KFIVRSKDGP
SYFTVSFNRT FLMMITNKAT DGILFLGKVE NPTKS*
speed 0.11 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