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 ENST00000396091
Genbank transcript ID NM_001204832
UniProt peptide Q9NW15
alteration type single base exchange
alteration region CDS
DNA changes c.1187G>A
cDNA.1274G>A
g.130284G>A
AA changes R396Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 396
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 increased130287wt: 0.65 / mu: 0.78wt: GCGGGTGAAGAGGAA
mu: GCAGGTGAAGAGGAA		 GGGT|gaag
Donor marginally increased130285wt: 0.9948 / mu: 0.9964 (marginal change - not scored)wt: GTGCGGGTGAAGAGG
mu: GTGCAGGTGAAGAGG		 GCGG|gtga
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      396LPYWLQRKHGVRVKRKVQALKADI
mutated  all conserved    396LPYWLQRKHGVQVKRKVQALKAD
Ptroglodytes  all identical  ENSPTRG00000014811  462LPYWLQRKHGVRVKRKVQALKA
Mmulatta  all identical  ENSMMUG00000001029  437LPYWLQRKHGVRVKRKMQALKT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000037949  462LPYWLQRKYCARVKRKVQALKS
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000013338  270LPYWLQRRRNKKMLRKVQKRRTLDG
Drerio  all identical  ENSDARG00000057736  462LPYWLQRRRNKRVYKRMRRLMGD
Dmelanogaster  not conserved  FBgn0000152  456RQKYAEFRHREVAEEKLRSI
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
374400TOPO_DOMCytoplasmic (Potential).lost
401421TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
422500TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
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 1785 / 1785
position (AA) of stopcodon in wt / mu AA sequence 595 / 595
position of stopcodon in wt / mu cDNA 1872 / 1872
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 88 / 88
chromosome 3
strand -1
last intron/exon boundary 1804
theoretical NMD boundary in CDS 1666
length of CDS 1785
coding sequence (CDS) position 1187
cDNA position
(for ins/del: last normal base / first normal base)		 1274
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 AKKKDGDNND DFLTMAECQF
IIKHELENLR AKDEKMIPGY PQAKLYPGKS LLRRLLTSGI VIQVFPLHDS EALKKLEDTW
YTRFALKYQP IDSIRGYFGE TIALYFGFLE YFTFALIPMA VIGLPYYLFV WEDYDKYVIF
ASFNLIWSTV ILELWKRGCA NMTYRWGTLL MKRKFEEPRP GFHGVLGINS ITGKEEPLYP
SYKRQLRIYL VSLPFVCLCL YFSLYVMMIY FDMEVWALGL HENSGSEWTS VLLYVPSIIY
AIVIEIMNRL YRYAAEFLTS WENHRLESAY QNHLILKVLV FNFLNCFASL FYIAFVLKDM
KLLRQSLATL LITSQILNQI MESFLPYWLQ RKHGVRVKRK VQALKADIDA TLYEQVILEK
EMGTYLGTFD DYLELFLQFG YVSLFSCVYP LAAAFAVLNN FTEVNSDALK MCRVFKRPFS
EPSANIGVWQ LAFETMSVIS VVTNCALIGM SPQVNAVFPE SKADLILIVV AVEHALLALK
FILAFAIPDK PRHIQMKLAR LEFESLEALK QQQMKLVTEN LKEEPMESGK EKAT*
mutated AA sequence MKVTLSALDT SESSFTPLVV IELAQDVKEE TKEWLKNRII AKKKDGDNND DFLTMAECQF
IIKHELENLR AKDEKMIPGY PQAKLYPGKS LLRRLLTSGI VIQVFPLHDS EALKKLEDTW
YTRFALKYQP IDSIRGYFGE TIALYFGFLE YFTFALIPMA VIGLPYYLFV WEDYDKYVIF
ASFNLIWSTV ILELWKRGCA NMTYRWGTLL MKRKFEEPRP GFHGVLGINS ITGKEEPLYP
SYKRQLRIYL VSLPFVCLCL YFSLYVMMIY FDMEVWALGL HENSGSEWTS VLLYVPSIIY
AIVIEIMNRL YRYAAEFLTS WENHRLESAY QNHLILKVLV FNFLNCFASL FYIAFVLKDM
KLLRQSLATL LITSQILNQI MESFLPYWLQ RKHGVQVKRK VQALKADIDA TLYEQVILEK
EMGTYLGTFD DYLELFLQFG YVSLFSCVYP LAAAFAVLNN FTEVNSDALK MCRVFKRPFS
EPSANIGVWQ LAFETMSVIS VVTNCALIGM SPQVNAVFPE SKADLILIVV AVEHALLALK
FILAFAIPDK PRHIQMKLAR LEFESLEALK QQQMKLVTEN LKEEPMESGK EKAT*
speed 0.90 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