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 ENST00000337425
Genbank transcript ID NM_175739
UniProt peptide Q86WD7
alteration type single base exchange
alteration region CDS
DNA changes c.331C>G
cDNA.406C>G
g.10126C>G
AA changes Q111E Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 111
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      111LSLGAHSVTKTQILQGLGFNLTHT
mutated  all conserved    111LSLGAHSVTKTEILQGLGFNL
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 
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 1308 / 1308
position (AA) of stopcodon in wt / mu AA sequence 436 / 436
position of stopcodon in wt / mu cDNA 1383 / 1383
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 76 / 76
chromosome 14
strand -1
last intron/exon boundary 1180
theoretical NMD boundary in CDS 1054
length of CDS 1308
coding sequence (CDS) position 331
cDNA position
(for ins/del: last normal base / first normal base)		 406
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 MQGQGRRRGT CKDIFCSKMA SYLYGVLFAV GLCAPIYCVS PANAPSAYPR PSSTKSTPAS
QVYSLNTDFA FRLYRRLVLE TPSQNIFFSP VSVSTSLAML SLGAHSVTKT QILQGLGFNL
THTPESAIHQ GFQHLVHSLT VPSKDLTLKM GSALFVKKEL QLQANFLGNV KRLYEAEVFS
TDFSNPSIAQ 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 VSVSTSLAML SLGAHSVTKT EILQGLGFNL
THTPESAIHQ GFQHLVHSLT VPSKDLTLKM GSALFVKKEL QLQANFLGNV KRLYEAEVFS
TDFSNPSIAQ 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*
speed 1.39 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