Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999881508971668 (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) chr10:47756662T>GN/A show variant in all transcripts   IGV
HGNC symbol ANXA8L2
Ensembl transcript ID ENST00000538825
Genbank transcript ID N/A
UniProt peptide Q5VT79
alteration type single base exchange
alteration region CDS
DNA changes c.390T>G
cDNA.466T>G
g.9727T>G
AA changes N130K Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 130
frameshift no
known variant Reference ID: rs202221168
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC7811221210023
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.9360.991
1.0340.946
(flanking)0.3980.767
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 increased9718wt: 0.9787 / mu: 0.9854 (marginal change - not scored)wt: GCGGCAGGCGAGAAT
mu: GCGGCAGGCGAGAAG		 GGCA|ggcg
Donor increased9721wt: 0.39 / mu: 0.99wt: GCAGGCGAGAATATT
mu: GCAGGCGAGAAGATT		 AGGC|gaga
Donor increased9723wt: 0.48 / mu: 0.91wt: AGGCGAGAATATTCG
mu: AGGCGAGAAGATTCG		 GCGA|gaat
Donor gained97260.87mu: CGAGAAGATTCGTGG AGAA|gatt
distance from splice site 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      130QDAQDLYAAGENIRGTDEMKFITI
mutated  not conserved    130AQDLYAAGEKIRGTDEMKFIT
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000013446  197GEKIRGTDEMKFIT
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021950  192GEKIMGTDEMKFIT
Ggallus  not conserved  ENSGALG00000005956  193GEKIKGTDEIQFIT
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
97162REPEATAnnexin 2.lost
181247REPEATAnnexin 3.might get lost (downstream of altered splice site)
257322REPEATAnnexin 4.might get lost (downstream of altered splice site)
266266METALCalcium; via carbonyl oxygen (By similarity).might get lost (downstream of altered splice site)
268268METALCalcium; via carbonyl oxygen (By similarity).might get lost (downstream of altered splice site)
270270METALCalcium; via carbonyl oxygen (By similarity).might get lost (downstream of altered splice site)
310310METALCalcium (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 798 / 798
position (AA) of stopcodon in wt / mu AA sequence 266 / 266
position of stopcodon in wt / mu cDNA 874 / 874
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 77 / 77
chromosome 10
strand 1
last intron/exon boundary 815
theoretical NMD boundary in CDS 688
length of CDS 798
coding sequence (CDS) position 390
cDNA position
(for ins/del: last normal base / first normal base)		 466
gDNA position
(for ins/del: last normal base / first normal base)		 9727
chromosomal position
(for ins/del: last normal base / first normal base)		 47756662
original gDNA sequence snippet CTGTATGCGGCAGGCGAGAATATTCGTGGGACTGATGAGAT
altered gDNA sequence snippet CTGTATGCGGCAGGCGAGAAGATTCGTGGGACTGATGAGAT
original cDNA sequence snippet CTGTATGCGGCAGGCGAGAATATTCGTGGGACTGATGAGAT
altered cDNA sequence snippet CTGTATGCGGCAGGCGAGAAGATTCGTGGGACTGATGAGAT
wildtype AA sequence MAWWKAWDLT ETLKSELSGK FERLIVALMY PPYRYEAKEL HDAMKGLGTK EGVIIEILAS
RTKNQLREIM KAYEEDYGSS LEEDIQADTS GYLERILVCL LQGSRDDVSS FVDPALALQD
AQDLYAAGEN IRGTDEMKFI TILCTRSATH LLRVFEEYEK IANKSIEDSI KSETHGSLEE
AMLTVVKCTQ NLHSYFAERL YYAMKGAGTR DGTLIRNIVS RSEIDLNLIK CHFKKMYGKT
LSSMIMEDTS GDYKNALLSL VGSDP*
mutated AA sequence MAWWKAWDLT ETLKSELSGK FERLIVALMY PPYRYEAKEL HDAMKGLGTK EGVIIEILAS
RTKNQLREIM KAYEEDYGSS LEEDIQADTS GYLERILVCL LQGSRDDVSS FVDPALALQD
AQDLYAAGEK IRGTDEMKFI TILCTRSATH LLRVFEEYEK IANKSIEDSI KSETHGSLEE
AMLTVVKCTQ NLHSYFAERL YYAMKGAGTR DGTLIRNIVS RSEIDLNLIK CHFKKMYGKT
LSSMIMEDTS GDYKNALLSL VGSDP*
speed 0.97 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