Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.954730922758653 (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) chr4:106317429C>GN/A show variant in all transcripts   IGV
HGNC symbol PPA2
Ensembl transcript ID ENST00000348706
Genbank transcript ID NM_006903
UniProt peptide Q9H2U2
alteration type single base exchange
alteration region CDS
DNA changes c.759G>C
cDNA.773G>C
g.77810G>C
AA changes K253N Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 253
frameshift no
known variant Reference ID: rs13787
databasehomozygous (G/G)heterozygousallele carriers
1000G5959771572
ExAC13349606919418
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0440.004
-0.1920.007
(flanking)3.2960.994
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 increased77811wt: 0.9741 / mu: 0.9873 (marginal change - not scored)wt: AGAAGTGTAATGGAG
mu: AGAACTGTAATGGAG		 AAGT|gtaa
Donor increased77814wt: 0.43 / mu: 0.72wt: AGTGTAATGGAGGAG
mu: ACTGTAATGGAGGAG		 TGTA|atgg
distance from splice site 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      253THQCWKALLMKKCNGGAINCTNVQ
mutated  not conserved    253THQCWKALLMKNCNGGAINCTNV
Ptroglodytes  all identical  ENSPTRG00000016335  282THQCWKALLMKKCNGGAINCTNV
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000004655  282XXXXXXXXXXXTNV
Mmusculus  all identical  ENSMUSG00000028013  277AHERWKEMVMKKCDKGAISCVNV
Ggallus  all identical  ENSGALG00000010582  277THEYWKALLHKKTDGGTVKCTNV
Trubripes  all conserved  ENSTRUG00000004694  198AHDHWRALVQKQSDGGGLSCKNV
Drerio  all identical  ENSDARG00000009685  287THSYWKALVMRKKMKDDEIVCQNS
Dmelanogaster  not conserved  FBgn0016687  284HKFWQNLVHQSPASGSISTTNI
Celegans  all conserved  C47E12.4  357TNEYWKTLI-KEAN-PSLN-TVS
Xtropicalis  all identical  ENSXETG00000014102  251MLHKKSDKGEIECKNV
protein features
start (aa)end (aa)featuredetails 
261261MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
276276MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
288288CONFLICTI -> T (in Ref. 7; CAB66590).might get lost (downstream of altered splice site)
317317MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 918 / 918
position (AA) of stopcodon in wt / mu AA sequence 306 / 306
position of stopcodon in wt / mu cDNA 932 / 932
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 15 / 15
chromosome 4
strand -1
last intron/exon boundary 904
theoretical NMD boundary in CDS 839
length of CDS 918
coding sequence (CDS) position 759
cDNA position
(for ins/del: last normal base / first normal base)		 773
gDNA position
(for ins/del: last normal base / first normal base)		 77810
chromosomal position
(for ins/del: last normal base / first normal base)		 106317429
original gDNA sequence snippet AAAGCATTGCTTATGAAGAAGTGTAATGGAGGAGCTATAAA
altered gDNA sequence snippet AAAGCATTGCTTATGAAGAACTGTAATGGAGGAGCTATAAA
original cDNA sequence snippet AAAGCATTGCTTATGAAGAAGTGTAATGGAGGAGCTATAAA
altered cDNA sequence snippet AAAGCATTGCTTATGAAGAACTGTAATGGAGGAGCTATAAA
wildtype AA sequence MSALLRLLRT GAPAAACLRL GTSAGTGSRR AMALYHTEER GQPCSQNYRL FFKNVTGHYI
SPFHDIPLKV NSKEENGIPM KKARNDEYEN LFNMIVEIPR WTNAKMEIAT KEPMNPIKQY
VKDGKLRYVA NIFPYKGYIW NYGTLPQILS CGEVIHVKIL GILALIDEGE TDWKLIAINA
NDPEASKFHD IDDVKKFKPG YLEATLNWFR LYKVPDGKPE NQFAFNGEFK NKAFALEVIK
STHQCWKALL MKKCNGGAIN CTNVQISDSP FRCTQEEARS LVESVSSSPN KESNEEEQVW
HFLGK*
mutated AA sequence MSALLRLLRT GAPAAACLRL GTSAGTGSRR AMALYHTEER GQPCSQNYRL FFKNVTGHYI
SPFHDIPLKV NSKEENGIPM KKARNDEYEN LFNMIVEIPR WTNAKMEIAT KEPMNPIKQY
VKDGKLRYVA NIFPYKGYIW NYGTLPQILS CGEVIHVKIL GILALIDEGE TDWKLIAINA
NDPEASKFHD IDDVKKFKPG YLEATLNWFR LYKVPDGKPE NQFAFNGEFK NKAFALEVIK
STHQCWKALL MKNCNGGAIN CTNVQISDSP FRCTQEEARS LVESVSSSPN KESNEEEQVW
HFLGK*
speed 0.93 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