Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999977 (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 ENST00000504346
Genbank transcript ID N/A
UniProt peptide Q5H8A4
alteration type single base exchange
alteration region CDS
DNA changes c.1106G>A
cDNA.1281G>A
g.22501G>A
AA changes R369H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 369
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      369TLLLLSVPQALRRKAELEVPLSSP
mutated  not conserved    369LLSVPQALHRKAELEVPLSS
Ptroglodytes  all identical  ENSPTRG00000015806  458LLSVPQALRRKAELEVPLSS
Mmulatta  not conserved  ENSMMUG00000017457  458LLSVPQALHRKAELEVPLSS
Fcatus  not conserved  ENSFCAG00000008218  419TLLLLSIPQALSSKAELEVPLWS
Mmusculus  not conserved  ENSMUSG00000029263  458LLSTPHVLCRKAELDVPLLS
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000007856  460MILLLAMPEALSADAAVDLPVAS
Drerio  not conserved  ENSDARG00000038270  458LLAMPEALSRDAVVDVPLAS
Dmelanogaster  not conserved  FBgn0033187  442LHIVISV-LYLDLTEQLQLDG
Celegans  no alignment  F28C6.4  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1431TOPO_DOMLumenal (Potential).lost
432452TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
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 2685 / 2685
position (AA) of stopcodon in wt / mu AA sequence 895 / 895
position of stopcodon in wt / mu cDNA 2860 / 2860
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 176 / 176
chromosome 4
strand 1
last intron/exon boundary 2644
theoretical NMD boundary in CDS 2418
length of CDS 2685
coding sequence (CDS) position 1106
cDNA position
(for ins/del: last normal base / first normal base)		 1281
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 MPYTTYLVEK GASHSFVAEA KPPTVTMPRI KALMTGSLPG FVDVIRNLNS PALLEDSVIR
QAKAAGKRIV FYGDETWVKL FPKHFVEYDG TTSFFVSDYT EVDNNVTRHL DKVLKRGDWD
ILILHYLGLD HIGHISGPNS PLIGQKLSEM DSVLMKIHTS LQSKERETPL PNLLVLCGDH
GMSETGSHGA SSTEEVNTPL ILISSAFERK PGDIRHPKHV QQTDVAATLA IALGLPIPKD
SVGSLLFPVV EGRPMREQLR FLHLNTVQLS KLLQENVPSY EKDPGFEQFK MSERLHGNWI
RLYLEEKHSE VLFNLGSKVL RQYLDALKTL SLSLSAQVAQ YDIYSMMVGT VVVLEVLTLL
LLSVPQALRR KAELEVPLSS PGFSLLFYLV ILVLSAVHVI VCTSAESSCY FCGLSWLAAG
GVMVLASALL CVIVSVLTNV LVGGNTPRKN PMHPSSRWSE LDLLILLGTA GHVLSLGASS
FVEEEHQTWY FLVNTLCLAL SQETYRNYFL GDDGEPPCGL CVEQGHDGAT AAWQDGPGCD
VLERDKGHGS PSTSEVLRGR EKWMVLASPW LILACCRLLR SLNQTGVQWA HRPDLGHWLT
SSDHKAELSV LAALSLLVVF VLVQRGCSPV SKAALALGLL GVYCYRAAIG SVRFPWRPDS
KDISKGIIEA RFVYVFVLGI LFTGTKDLLK SQVIAADFKL KTVGLWEIYS GLVLLAALLF
RPHNLPVLAF SLLIQTLMTK FIWKPLRHDA AEITVMHYWF GQAFFYFQGN SNNIATVDIS
AGFVGLDTYV EIPAVLLTAF GTYAGPVLWA SHLVHFLSSE TRSGSALSHA CFCYALICSI
PVFTYIVLVT SLRYHLFIWS VFSPKLLYEG MHLLITAAVC VFFTAMDQTR LTQS*
mutated AA sequence MPYTTYLVEK GASHSFVAEA KPPTVTMPRI KALMTGSLPG FVDVIRNLNS PALLEDSVIR
QAKAAGKRIV FYGDETWVKL FPKHFVEYDG TTSFFVSDYT EVDNNVTRHL DKVLKRGDWD
ILILHYLGLD HIGHISGPNS PLIGQKLSEM DSVLMKIHTS LQSKERETPL PNLLVLCGDH
GMSETGSHGA SSTEEVNTPL ILISSAFERK PGDIRHPKHV QQTDVAATLA IALGLPIPKD
SVGSLLFPVV EGRPMREQLR FLHLNTVQLS KLLQENVPSY EKDPGFEQFK MSERLHGNWI
RLYLEEKHSE VLFNLGSKVL RQYLDALKTL SLSLSAQVAQ YDIYSMMVGT VVVLEVLTLL
LLSVPQALHR KAELEVPLSS PGFSLLFYLV ILVLSAVHVI VCTSAESSCY FCGLSWLAAG
GVMVLASALL CVIVSVLTNV LVGGNTPRKN PMHPSSRWSE LDLLILLGTA GHVLSLGASS
FVEEEHQTWY FLVNTLCLAL SQETYRNYFL GDDGEPPCGL CVEQGHDGAT AAWQDGPGCD
VLERDKGHGS PSTSEVLRGR EKWMVLASPW LILACCRLLR SLNQTGVQWA HRPDLGHWLT
SSDHKAELSV LAALSLLVVF VLVQRGCSPV SKAALALGLL GVYCYRAAIG SVRFPWRPDS
KDISKGIIEA RFVYVFVLGI LFTGTKDLLK SQVIAADFKL KTVGLWEIYS GLVLLAALLF
RPHNLPVLAF SLLIQTLMTK FIWKPLRHDA AEITVMHYWF GQAFFYFQGN SNNIATVDIS
AGFVGLDTYV EIPAVLLTAF GTYAGPVLWA SHLVHFLSSE TRSGSALSHA CFCYALICSI
PVFTYIVLVT SLRYHLFIWS VFSPKLLYEG MHLLITAAVC VFFTAMDQTR LTQS*
speed 1.28 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