Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999594 (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) chr4:515489G>AN/A show variant in all transcripts   IGV
HGNC symbol PIGG
Ensembl transcript ID ENST00000310340
Genbank transcript ID NM_017733
UniProt peptide Q5H8A4
alteration type single base exchange
alteration region CDS
DNA changes c.1349G>A
cDNA.1464G>A
g.22501G>A
AA changes R450H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 450
frameshift no
known variant Reference ID: rs13115344
databasehomozygous (A/A)heterozygousallele carriers
1000G130758888
ExAC14351382215257
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.8360.002
0.8340.002
(flanking)0.780.002
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased22498wt: 0.42 / mu: 0.51wt: GGCACTGCGCAGAAA
mu: GGCACTGCACAGAAA		 CACT|gcgc
Donor marginally increased22503wt: 0.9484 / mu: 0.9662 (marginal change - not scored)wt: TGCGCAGAAAGGCTG
mu: TGCACAGAAAGGCTG		 CGCA|gaaa
Donor increased22502wt: 0.71 / mu: 0.88wt: CTGCGCAGAAAGGCT
mu: CTGCACAGAAAGGCT		 GCGC|agaa
Donor gained225010.84mu: ACTGCACAGAAAGGC TGCA|caga
distance from splice site 41
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      450TLLLLSVPQALRRKAELEVPLSSP
mutated  not conserved    450TLLLLSVPQALHRKAELEVPLSS
Ptroglodytes  all identical  ENSPTRG00000015806  450TLLLLSVPQALRRKAELEVPLSS
Mmulatta  not conserved  ENSMMUG00000017457  450TLLLLSVPQALHRKAELEVPLSS
Fcatus  not conserved  ENSFCAG00000008218  411TLLLLSIPQALSSKAELEVPLWS
Mmusculus  not conserved  ENSMUSG00000029263  450ALFLLSTPHVLCRKAELDVPLLS
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000007856  449MILLLAMPEALSADAAVDLPVAS
Drerio  not conserved  ENSDARG00000038270  450FLLLLAMPEALSRDAVVDVPLAS
Dmelanogaster  not conserved  FBgn0033187  433GLALTTSTSLHIVISVLYLDLTEQLQLDGLK
Celegans  no alignment  F28C6.4  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
432452TRANSMEMHelical; (Potential).lost
471491TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
506526TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
552572TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
624624CONFLICTD -> G (in Ref. 3; BAC11227).might get lost (downstream of altered splice site)
699719TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
721741TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
752772TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
789809TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
812832TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
879899TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
889889CONFLICTF -> L (in Ref. 3; BAC11227).might get lost (downstream of altered splice site)
919939TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
955975TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2928 / 2928
position (AA) of stopcodon in wt / mu AA sequence 976 / 976
position of stopcodon in wt / mu cDNA 3043 / 3043
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 116 / 116
chromosome 4
strand 1
last intron/exon boundary 2827
theoretical NMD boundary in CDS 2661
length of CDS 2928
coding sequence (CDS) position 1349
cDNA position
(for ins/del: last normal base / first normal base)		 1464
gDNA position
(for ins/del: last normal base / first normal base)		 22501
chromosomal position
(for ins/del: last normal base / first normal base)		 515489
original gDNA sequence snippet CAGCGTCCCACAGGCACTGCGCAGAAAGGCTGAGCTGGAAG
altered gDNA sequence snippet CAGCGTCCCACAGGCACTGCACAGAAAGGCTGAGCTGGAAG
original cDNA sequence snippet CAGCGTCCCACAGGCACTGCGCAGAAAGGCTGAGCTGGAAG
altered cDNA sequence snippet CAGCGTCCCACAGGCACTGCACAGAAAGGCTGAGCTGGAAG
wildtype AA sequence MRLGSGTFAT CCVAIEVLGI AVFLRGFFPA PVRSSARAEH GAEPPAPEPS AGASSNWTTL
PPPLFSKVVI VLIDALRDDF VFGSKGVKFM PYTTYLVEKG ASHSFVAEAK PPTVTMPRIK
ALMTGSLPGF VDVIRNLNSP ALLEDSVIRQ AKAAGKRIVF YGDETWVKLF PKHFVEYDGT
TSFFVSDYTE VDNNVTRHLD KVLKRGDWDI LILHYLGLDH IGHISGPNSP LIGQKLSEMD
SVLMKIHTSL QSKERETPLP NLLVLCGDHG MSETGSHGAS STEEVNTPLI LISSAFERKP
GDIRHPKHVQ QTDVAATLAI ALGLPIPKDS VGSLLFPVVE GRPMREQLRF LHLNTVQLSK
LLQENVPSYE KDPGFEQFKM SERLHGNWIR LYLEEKHSEV LFNLGSKVLR QYLDALKTLS
LSLSAQVAQY DIYSMMVLTL LLLSVPQALR RKAELEVPLS SPGFSLLFYL VILVLSAVHV
IVCTSAESSC YFCGLSWLAA GGVMVLASAL LCVIVSVLTN VLVGGNTPRK NPMHPSSRWS
ELDLLILLGT AGHVLSLGAS SFVEEEHQTW YFLVNTLCLA LSQETYRNYF LGDDGEPPCG
LCVEQGHDGA TAAWQDGPGC DVLERDKGHG SPSTSEVLRG REKWMVLASP WLILACCRLL
RSLNQTGVQW AHRPDLGHWL TSSDHKAELS VLAALSLLVV FVLVQRGCSP VSKAALALGL
LGVYCYRAAI GSVRFPWRPD SKDISKGIIE ARFVYVFVLG ILFTGTKDLL KSQVIAADFK
LKTVGLWEIY SGLVLLAALL FRPHNLPVLA FSLLIQTLMT KFIWKPLRHD AAEITVMHYW
FGQAFFYFQG NSNNIATVDI SAGFVGLDTY VEIPAVLLTA FGTYAGPVLW ASHLVHFLSS
ETRSGSALSH ACFCYALICS IPVFTYIVLV TSLRYHLFIW SVFSPKLLYE GMHLLITAAV
CVFFTAMDQT RLTQS*
mutated AA sequence MRLGSGTFAT CCVAIEVLGI AVFLRGFFPA PVRSSARAEH GAEPPAPEPS AGASSNWTTL
PPPLFSKVVI VLIDALRDDF VFGSKGVKFM PYTTYLVEKG ASHSFVAEAK PPTVTMPRIK
ALMTGSLPGF VDVIRNLNSP ALLEDSVIRQ AKAAGKRIVF YGDETWVKLF PKHFVEYDGT
TSFFVSDYTE VDNNVTRHLD KVLKRGDWDI LILHYLGLDH IGHISGPNSP LIGQKLSEMD
SVLMKIHTSL QSKERETPLP NLLVLCGDHG MSETGSHGAS STEEVNTPLI LISSAFERKP
GDIRHPKHVQ QTDVAATLAI ALGLPIPKDS VGSLLFPVVE GRPMREQLRF LHLNTVQLSK
LLQENVPSYE KDPGFEQFKM SERLHGNWIR LYLEEKHSEV LFNLGSKVLR QYLDALKTLS
LSLSAQVAQY DIYSMMVLTL LLLSVPQALH RKAELEVPLS SPGFSLLFYL VILVLSAVHV
IVCTSAESSC YFCGLSWLAA GGVMVLASAL LCVIVSVLTN VLVGGNTPRK NPMHPSSRWS
ELDLLILLGT AGHVLSLGAS SFVEEEHQTW YFLVNTLCLA LSQETYRNYF LGDDGEPPCG
LCVEQGHDGA TAAWQDGPGC DVLERDKGHG SPSTSEVLRG REKWMVLASP WLILACCRLL
RSLNQTGVQW AHRPDLGHWL TSSDHKAELS VLAALSLLVV FVLVQRGCSP VSKAALALGL
LGVYCYRAAI GSVRFPWRPD SKDISKGIIE ARFVYVFVLG ILFTGTKDLL KSQVIAADFK
LKTVGLWEIY SGLVLLAALL FRPHNLPVLA FSLLIQTLMT KFIWKPLRHD AAEITVMHYW
FGQAFFYFQG NSNNIATVDI SAGFVGLDTY VEIPAVLLTA FGTYAGPVLW ASHLVHFLSS
ETRSGSALSH ACFCYALICS IPVFTYIVLV TSLRYHLFIW SVFSPKLLYE GMHLLITAAV
CVFFTAMDQT RLTQS*
speed 1.19 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