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 ENST00000432483
Genbank transcript ID NM_176866
UniProt peptide Q9H2U2
alteration type single base exchange
alteration region CDS
DNA changes c.540G>C
cDNA.540G>C
g.77810G>C
AA changes K180N Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 180
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      180THQCWKALLMKKCNGGAINCTNVQ
mutated  not conserved    180THQCWKALLMKNCNGGAINCTNV
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  284THKFWQNLVHQSPASGSISTTNI
Celegans  all conserved  C47E12.4  357TNEYWKTLI-KEAN-PSLN
Xtropicalis  all identical  ENSXETG00000014102  251THEYWKNMLHKKSDKGEIECKNV
protein features
start (aa)end (aa)featuredetails 
201201METALMagnesium 1 (By similarity).might get lost (downstream of altered splice site)
216216MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
241241CONFLICTY -> C (in Ref. 7; CAB66590).might get lost (downstream of altered splice site)
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 699 / 699
position (AA) of stopcodon in wt / mu AA sequence 233 / 233
position of stopcodon in wt / mu cDNA 699 / 699
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 1 / 1
chromosome 4
strand -1
last intron/exon boundary 671
theoretical NMD boundary in CDS 620
length of CDS 699
coding sequence (CDS) position 540
cDNA position
(for ins/del: last normal base / first normal base)		 540
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 NSKEILSCGE VIHVKILGIL ALIDEGETDW KLIAINANDP EASKFHDIDD
VKKFKPGYLE ATLNWFRLYK VPDGKPENQF AFNGEFKNKA FALEVIKSTH QCWKALLMKK
CNGGAINCTN VQISDSPFRC TQEEARSLVE SVSSSPNKES NEEEQVWHFL GK*
mutated AA sequence MSALLRLLRT GAPAAACLRL GTSAGTGSRR AMALYHTEER GQPCSQNYRL FFKNVTGHYI
SPFHDIPLKV NSKEILSCGE VIHVKILGIL ALIDEGETDW KLIAINANDP EASKFHDIDD
VKKFKPGYLE ATLNWFRLYK VPDGKPENQF AFNGEFKNKA FALEVIKSTH QCWKALLMKN
CNGGAINCTN VQISDSPFRC TQEEARSLVE SVSSSPNKES NEEEQVWHFL GK*
speed 0.98 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