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 ENST00000374277
Genbank transcript ID NM_001630
UniProt peptide Q5VT79
alteration type single base exchange
alteration region CDS
DNA changes c.576T>G
cDNA.698T>G
g.9727T>G
AA changes N192K Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 192
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      192QDAQDLYAAGENIRGTDEMKFITI
mutated  not conserved    192QDAQDLYAAGEKIRGTDEMKFIT
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000013446  197QDAQDLYAAGEKIRGTDEMKFIT
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021950  192QDAQALHEAGEKIMGTDEMKFIT
Ggallus  not conserved  ENSGALG00000005956  193QDAETLFSAGEKIKGTDEIQFIT
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
181247REPEATAnnexin 3.lost
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 984 / 984
position (AA) of stopcodon in wt / mu AA sequence 328 / 328
position of stopcodon in wt / mu cDNA 1106 / 1106
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 123 / 123
chromosome 10
strand 1
last intron/exon boundary 1047
theoretical NMD boundary in CDS 874
length of CDS 984
coding sequence (CDS) position 576
cDNA position
(for ins/del: last normal base / first normal base)		 698
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 MAWWKAWIEQ EGVTVKSSSH FNPDPDAETL YKAMKGIGTN EQAIIDVLTK RSNTQRQQIA
KSFKAQFGKD LTETLKSELS GKFERLIVAL MYPPYRYEAK ELHDAMKGLG TKEGVIIEIL
ASRTKNQLRE IMKAYEEDYG SSLEEDIQAD TSGYLERILV CLLQGSRDDV SSFVDPALAL
QDAQDLYAAG ENIRGTDEMK FITILCTRSA THLLRVFEEY EKIANKSIED SIKSETHGSL
EEAMLTVVKC TQNLHSYFAE RLYYAMKGAG TRDGTLIRNI VSRSEIDLNL IKCHFKKMYG
KTLSSMIMED TSGDYKNALL SLVGSDP*
mutated AA sequence MAWWKAWIEQ EGVTVKSSSH FNPDPDAETL YKAMKGIGTN EQAIIDVLTK RSNTQRQQIA
KSFKAQFGKD LTETLKSELS GKFERLIVAL MYPPYRYEAK ELHDAMKGLG TKEGVIIEIL
ASRTKNQLRE IMKAYEEDYG SSLEEDIQAD TSGYLERILV CLLQGSRDDV SSFVDPALAL
QDAQDLYAAG EKIRGTDEMK FITILCTRSA THLLRVFEEY EKIANKSIED SIKSETHGSL
EEAMLTVVKC TQNLHSYFAE RLYYAMKGAG TRDGTLIRNI VSRSEIDLNL IKCHFKKMYG
KTLSSMIMED TSGDYKNALL SLVGSDP*
speed 0.30 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