Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999995770248 (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) chr1:53544597T>CN/A show variant in all transcripts   IGV
HGNC symbol PODN
Ensembl transcript ID ENST00000371500
Genbank transcript ID NM_001199080
UniProt peptide Q7Z5L7
alteration type single base exchange
alteration region CDS
DNA changes c.1502T>C
cDNA.1843T>C
g.16744T>C
AA changes V501A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 501
frameshift no
known variant Reference ID: rs1288389
databasehomozygous (C/C)heterozygousallele carriers
1000G9069971903
ExAC25261-177557506
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7810.482
1.7970.464
(flanking)-1.7720.085
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained167450.51mu: CTGGCGGGCATGGCT GGCG|ggca
distance from splice site 98
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      501NELAALARGALVGMAQLRELYLTS
mutated  not conserved    501NELAALARGALAGMAQLRELYLT
Ptroglodytes  not conserved  ENSPTRG00000000749  520LAALARGALAGMAQLRELYLT
Mmulatta  not conserved  ENSMMUG00000007604  521ELAALARGALAGMAQLRELYLT
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000028600  473NELAALARGALAGMAQLR
Ggallus  not conserved  ENSGALG00000021869  87NEISDIPKGTLSGMTKLRELYLS
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000019025  454PEGALLGMTSLRELYLT
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
502522REPEATLRR 17.might get lost (downstream of altered splice site)
523544REPEATLRR 18.might get lost (downstream of altered splice site)
547568REPEATLRR 19.might get lost (downstream of altered splice site)
573595REPEATLRR 20.might get lost (downstream of altered splice site)
598611COMPBIASGlu-rich.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1929 / 1929
position (AA) of stopcodon in wt / mu AA sequence 643 / 643
position of stopcodon in wt / mu cDNA 2270 / 2270
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 342 / 342
chromosome 1
strand 1
last intron/exon boundary 2298
theoretical NMD boundary in CDS 1906
length of CDS 1929
coding sequence (CDS) position 1502
cDNA position
(for ins/del: last normal base / first normal base)		 1843
gDNA position
(for ins/del: last normal base / first normal base)		 16744
chromosomal position
(for ins/del: last normal base / first normal base)		 53544597
original gDNA sequence snippet CTTGGCACGAGGGGCGCTGGTGGGCATGGCTCAGCTGCGTG
altered gDNA sequence snippet CTTGGCACGAGGGGCGCTGGCGGGCATGGCTCAGCTGCGTG
original cDNA sequence snippet CTTGGCACGAGGGGCGCTGGTGGGCATGGCTCAGCTGCGTG
altered cDNA sequence snippet CTTGGCACGAGGGGCGCTGGCGGGCATGGCTCAGCTGCGTG
wildtype AA sequence MEGEEAEQPA WFRQPWRPGA SDSAPPAGTM AQSRVLLLLL LLPPQLHLGP VLAVRAPGFG
RSGGHSLSPE ENEFAEEEPV LVLSPEEPGP GPAAVSCPRD CACSQEGVVD CGGIDLREFP
GDLPEHTNHL SLQNNQLEKI YPEELSRLHR LETLNLQNNR LTSRGLPEKA FEHLTNLNYL
YLANNKLTLA PRFLPNALIS VDFAANYLTK IYGLTFGQKP NLRSVYLHNN KLADAGLPDN
MFNGSSNVEV LILSSNFLRH VPKHLPPALY KLHLKNNKLE KIPPGAFSEL SSLRELYLQN
NYLTDEGLDN ETFWKLSSLE YLDLSSNNLS RVPAGLPRSL VLLHLEKNAI RSVDANVLTP
IRSLEYLLLH SNQLREQGIH PLAFQGLKRL HTVHLYNNAL ERVPSGLPRR VRTLMILHNQ
ITGIGREDFA TTYFLEELNL SYNRITSPQV HRDAFRKLRL LRSLDLSGNR LHTLPPGLPR
NVHVLKVKRN ELAALARGAL VGMAQLRELY LTSNRLRSRA LGPRAWVDLA HLQLLDIAGN
QLTEIPEGLP ESLEYLYLQN NKISAVPANA FDSTPNLKGI FLRFNKLAVG SVVDSAFRRL
KHLQVLDIEG NLEFGDISKD RGRLGKEKEE EEEEEEEEEE TR*
mutated AA sequence MEGEEAEQPA WFRQPWRPGA SDSAPPAGTM AQSRVLLLLL LLPPQLHLGP VLAVRAPGFG
RSGGHSLSPE ENEFAEEEPV LVLSPEEPGP GPAAVSCPRD CACSQEGVVD CGGIDLREFP
GDLPEHTNHL SLQNNQLEKI YPEELSRLHR LETLNLQNNR LTSRGLPEKA FEHLTNLNYL
YLANNKLTLA PRFLPNALIS VDFAANYLTK IYGLTFGQKP NLRSVYLHNN KLADAGLPDN
MFNGSSNVEV LILSSNFLRH VPKHLPPALY KLHLKNNKLE KIPPGAFSEL SSLRELYLQN
NYLTDEGLDN ETFWKLSSLE YLDLSSNNLS RVPAGLPRSL VLLHLEKNAI RSVDANVLTP
IRSLEYLLLH SNQLREQGIH PLAFQGLKRL HTVHLYNNAL ERVPSGLPRR VRTLMILHNQ
ITGIGREDFA TTYFLEELNL SYNRITSPQV HRDAFRKLRL LRSLDLSGNR LHTLPPGLPR
NVHVLKVKRN ELAALARGAL AGMAQLRELY LTSNRLRSRA LGPRAWVDLA HLQLLDIAGN
QLTEIPEGLP ESLEYLYLQN NKISAVPANA FDSTPNLKGI FLRFNKLAVG SVVDSAFRRL
KHLQVLDIEG NLEFGDISKD RGRLGKEKEE EEEEEEEEEE TR*
speed 0.73 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