Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999570770539836 (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) chr3:43602803C>TN/A show variant in all transcripts   IGV
HGNC symbol ANO10
Ensembl transcript ID ENST00000414522
Genbank transcript ID NM_001204831
UniProt peptide Q9NW15
alteration type single base exchange
alteration region CDS
DNA changes c.1385G>A
cDNA.1499G>A
g.130284G>A
AA changes R462Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 462
frameshift no
known variant Reference ID: rs3772165
databasehomozygous (T/T)heterozygousallele carriers
1000G11869492135
ExAC26421-200756346
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.3530.968
-0.2920.015
(flanking)0.8890.011
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 increased130285wt: 0.9948 / mu: 0.9964 (marginal change - not scored)wt: GTGCGGGTGAAGAGG
mu: GTGCAGGTGAAGAGG		 GCGG|gtga
Donor increased130287wt: 0.65 / mu: 0.78wt: GCGGGTGAAGAGGAA
mu: GCAGGTGAAGAGGAA		 GGGT|gaag
Donor gained1302840.31mu: TGTGCAGGTGAAGAG TGCA|ggtg
distance from splice site 92
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      462LPYWLQRKHGVRVKRKVQALKADI
mutated  all conserved    462LPYWLQRKHGVQVKRKVQALKAD
Ptroglodytes  all identical  ENSPTRG00000014811  462LPYWLQRKHGVRVKRKVQALKAD
Mmulatta  all identical  ENSMMUG00000001029  437LPYWLQRKHGVRVKRKMQALKTD
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000037949  462LPYWLQRKYCARVKRKVQALKSE
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000013338  270LPYWLQRRRNKKMLRKVQKRRTLDG
Drerio  all identical  ENSDARG00000057736  462LPYWLQRRRNKRVYKRMRRLMGD
Dmelanogaster  not conserved  FBgn0000152  454IPLLAVLRQKYAEFRHREVAEEKLR
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
422500TOPO_DOMExtracellular (Potential).lost
501521TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
522553TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
554574TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
575590TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
591611TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
612660TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1884 / 1884
position (AA) of stopcodon in wt / mu AA sequence 628 / 628
position of stopcodon in wt / mu cDNA 1998 / 1998
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 115 / 115
chromosome 3
strand -1
last intron/exon boundary 2032
theoretical NMD boundary in CDS 1867
length of CDS 1884
coding sequence (CDS) position 1385
cDNA position
(for ins/del: last normal base / first normal base)		 1499
gDNA position
(for ins/del: last normal base / first normal base)		 130284
chromosomal position
(for ins/del: last normal base / first normal base)		 43602803
original gDNA sequence snippet CCAAAGGAAGCATGGTGTGCGGGTGAAGAGGAAGGTGCAGG
altered gDNA sequence snippet CCAAAGGAAGCATGGTGTGCAGGTGAAGAGGAAGGTGCAGG
original cDNA sequence snippet CCAAAGGAAGCATGGTGTGCGGGTGAAGAGGAAGGTGCAGG
altered cDNA sequence snippet CCAAAGGAAGCATGGTGTGCAGGTGAAGAGGAAGGTGCAGG
wildtype AA sequence MKVTLSALDT SESSFTPLVV IELAQDVKEE TKEWLKNRII AKKKDGGAQL LFRPLLNKYE
QETLENQNLY LVGASKIRML LGAEAVGLVK ECNDNTMRAF TYRTRQNFKG FDDNNDDFLT
MAECQFIIKH ELENLRAKDE KMIPGYPQAK LYPGKSLLRR LLTSGIVIQV FPLHDSEALK
KLEDTWYTRF ALKYQPIDSI RGYFGETIAL YFGFLEYFTF ALIPMAVIGL PYYLFVWEDY
DKYVIFASFN LIWSTVILEL WKRGCANMTY RWGTLLMKRK FEEPRPGFHG VLGINSITGK
EEPLYPSYKR QLRIYLVSLP FVCLCLYFSL YVMMIYFDME VWALGLHENS GSEWTSVLLY
VPSIIYAIVI EIMNRLYRYA AEFLTSWENH RLESAYQNHL ILKVLVFNFL NCFASLFYIA
FVLKDMKLLR QSLATLLITS QILNQIMESF LPYWLQRKHG VRVKRKVQAL KADIDATLYE
QVILEKEMGT YLGTFDDYLE LFLQFGYVSL FSCVYPLAAA FAVLNNFTEV NSDALKMCRV
FKRPFSEPSA NIGVWQLAFE TMSVISVVTN CALIGMSPQV NAVFPESKAD LILIVVAVEA
ASCKLVSLPR YSWSTNSVPG TVIGPGV*
mutated AA sequence MKVTLSALDT SESSFTPLVV IELAQDVKEE TKEWLKNRII AKKKDGGAQL LFRPLLNKYE
QETLENQNLY LVGASKIRML LGAEAVGLVK ECNDNTMRAF TYRTRQNFKG FDDNNDDFLT
MAECQFIIKH ELENLRAKDE KMIPGYPQAK LYPGKSLLRR LLTSGIVIQV FPLHDSEALK
KLEDTWYTRF ALKYQPIDSI RGYFGETIAL YFGFLEYFTF ALIPMAVIGL PYYLFVWEDY
DKYVIFASFN LIWSTVILEL WKRGCANMTY RWGTLLMKRK FEEPRPGFHG VLGINSITGK
EEPLYPSYKR QLRIYLVSLP FVCLCLYFSL YVMMIYFDME VWALGLHENS GSEWTSVLLY
VPSIIYAIVI EIMNRLYRYA AEFLTSWENH RLESAYQNHL ILKVLVFNFL NCFASLFYIA
FVLKDMKLLR QSLATLLITS QILNQIMESF LPYWLQRKHG VQVKRKVQAL KADIDATLYE
QVILEKEMGT YLGTFDDYLE LFLQFGYVSL FSCVYPLAAA FAVLNNFTEV NSDALKMCRV
FKRPFSEPSA NIGVWQLAFE TMSVISVVTN CALIGMSPQV NAVFPESKAD LILIVVAVEA
ASCKLVSLPR YSWSTNSVPG TVIGPGV*
speed 1.21 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