Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 5.36175593186667e-05 (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) chr2:201736166A>CN/A show variant in all transcripts   IGV
HGNC symbol PPIL3
Ensembl transcript ID ENST00000286175
Genbank transcript ID NM_032472
UniProt peptide Q9H2H8
alteration type single base exchange
alteration region CDS
DNA changes c.450T>G
cDNA.834T>G
g.17861T>G
AA changes D150E Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 150
frameshift no
known variant Reference ID: rs7562391
databasehomozygous (C/C)heterozygousallele carriers
1000G155572727
ExAC14021210013502
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.9021
-0.1330.982
(flanking)4.8741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc gained178600.64mu: GACATACCGACCTCTTAATGAGGTACACATTAAGGACATAA atga|GGTA
Donor gained178600.81mu: TAATGAGGTACACAT ATGA|ggta
distance from splice site 79
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      150PVNEKTYRPLNDVHIKDITIHANP
mutated  all conserved    150PVNEKTYRPLNEVHIKDITIHAN
Ptroglodytes  all identical  ENSPTRG00000012793  97PVNEKTYRPLNDVHIKDITIHAN
Mmulatta  all identical  ENSMMUG00000006638  149PVNEKTYRPLNDVHIKDITIHAN
Fcatus  all identical  ENSFCAG00000005373  149PVNEKTYRPLNDVHIKDITIHAN
Mmusculus  all identical  ENSMUSG00000026035  146PVNEKTYRPLNDVHIKDITIHAN
Ggallus  all identical  ENSGALG00000008228  146PVNEKTYRPLNDVHIKDITIHAN
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000033370  146PVNEKTFRPLNDVRIKDVTIHAN
Dmelanogaster  all identical  FBgn0033527  146PVNPKNYRPHVDKKINGVTIHAN
Celegans  not conserved  B0252.4  146KVDNK-YRPLVQQKIQNVTIHAN
Xtropicalis  all conserved  ENSXETG00000018176  146PVHEKSFRPLTEVRIKDATIHAN
protein features
start (aa)end (aa)featuredetails 
1154DOMAINPPIase cyclophilin-type.lost
148155STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 498 / 498
position (AA) of stopcodon in wt / mu AA sequence 166 / 166
position of stopcodon in wt / mu cDNA 882 / 882
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 385 / 385
chromosome 2
strand -1
last intron/exon boundary 756
theoretical NMD boundary in CDS 321
length of CDS 498
coding sequence (CDS) position 450
cDNA position
(for ins/del: last normal base / first normal base)		 834
gDNA position
(for ins/del: last normal base / first normal base)		 17861
chromosomal position
(for ins/del: last normal base / first normal base)		 201736166
original gDNA sequence snippet ACATACCGACCTCTTAATGATGTACACATTAAGGACATAAC
altered gDNA sequence snippet ACATACCGACCTCTTAATGAGGTACACATTAAGGACATAAC
original cDNA sequence snippet ACATACCGACCTCTTAATGATGTACACATTAAGGACATAAC
altered cDNA sequence snippet ACATACCGACCTCTTAATGAGGTACACATTAAGGACATAAC
wildtype AA sequence MSVTLHTDVG DIKIEVFCER TPKTCEMESR CVPQAGVQWR DLGSLQPPPP GFKQVFCLSL
PRTGRGGNSI WGKKFEDEYS EYLKHNVRGV VSMANNGPNT NGSQFFITYG KQPHLDMKYT
VFGKVIDGLE TLDELEKLPV NEKTYRPLND VHIKDITIHA NPFAQ*
mutated AA sequence MSVTLHTDVG DIKIEVFCER TPKTCEMESR CVPQAGVQWR DLGSLQPPPP GFKQVFCLSL
PRTGRGGNSI WGKKFEDEYS EYLKHNVRGV VSMANNGPNT NGSQFFITYG KQPHLDMKYT
VFGKVIDGLE TLDELEKLPV NEKTYRPLNE VHIKDITIHA NPFAQ*
speed 0.16 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