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 ENST00000383028
Genbank transcript ID N/A
UniProt peptide Q5H8A4
alteration type single base exchange
alteration region CDS
DNA changes c.974G>A
cDNA.1052G>A
g.22501G>A
AA changes R325H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 325
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      325TLLLLSVPQALRRKAELEVPLSSP
mutated  not conserved    325TLLLLSVPQALHRKAELEVPLSS
Ptroglodytes  all identical  ENSPTRG00000015806  458TLLLLSVPQALRRKAELEVPLSS
Mmulatta  not conserved  ENSMMUG00000017457  458TLLLLSVPQALHRKAELEVPLSS
Fcatus  not conserved  ENSFCAG00000008218  419TLLLLSIPQALSSKAELEVPLWS
Mmusculus  not conserved  ENSMUSG00000029263  458ALFLLSTPHVLCRKAELDVPLLS
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000007856  457MILLLAMPEALSADAAVDLPVAS
Drerio  not conserved  ENSDARG00000038270  458FLLLLAMPEALSRDAVVDVPLAS
Dmelanogaster  not conserved  FBgn0033187  442LHIVISVLY-LDLTEQLQLD
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 2553 / 2553
position (AA) of stopcodon in wt / mu AA sequence 851 / 851
position of stopcodon in wt / mu cDNA 2631 / 2631
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 79 / 79
chromosome 4
strand 1
last intron/exon boundary 2415
theoretical NMD boundary in CDS 2286
length of CDS 2553
coding sequence (CDS) position 974
cDNA position
(for ins/del: last normal base / first normal base)		 1052
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
ERETPLPNLL VLCGDHGMSE TGSHGASSTE EVNTPLILIS SAFERKPGDI RHPKHVQQTD
VAATLAIALG LPIPKDSVGS LLFPVVEGRP MREQLRFLHL NTVQLSKLLQ ENVPSYEKDP
GFEQFKMSER LHGNWIRLYL EEKHSEVLFN LGSKVLRQYL DALKTLSLSL SAQVAQYDIY
SMMVGTVVVL EVLTLLLLSV PQALRRKAEL EVPLSSPGFS LLFYLVILVL SAVHVIVCTS
AESSCYFCGL SWLAAGGVMV LASALLCVIV SVLTNVLVGG NTPRKNPMHP SSRWSELDLL
ILLGTAGHVL SLGASSFVEE EHQTWYFLVN TLCLALSQET YRNYFLGDDG EPPCGLCVEQ
GHDGATAAWQ DGPGCDVLER DKGHGSPSTS EVLRGREKWM VLASPWLILA CCRLLRSLNQ
TGVQWAHRPD LGHWLTSSDH KAELSVLAAL SLLVVFVLVQ RGCSPVSKAA LALGLLGVYC
YRAAIGSVRF PWRPDSKDIS KGIIEARFVY VFVLGILFTG TKDLLKSQVI AADFKLKTVG
LWEIYSGLVL LAALLFRPHN LPVLAFSLLI QTLMTKFIWK PLRHDAAEIT VMHYWFGQAF
FYFQGNSNNI ATVDISAGFV GLDTYVEIPA VLLTAFGTYA GPVLWASHLV HFLSSETRSG
SALSHACFCY ALICSIPVFT YIVLVTSLRY HLFIWSVFSP KLLYEGMHLL ITAAVCVFFT
AMDQTRLTQS *
mutated AA sequence MRLGSGTFAT CCVAIEVLGI AVFLRGFFPA PVRSSARAEH GAEPPAPEPS AGASSNWTTL
PPPLFSKVVI VLIDALRDDF VFGSKGVKFM PYTTYLVEKG ASHSFVAEAK PPTVTMPRIK
ERETPLPNLL VLCGDHGMSE TGSHGASSTE EVNTPLILIS SAFERKPGDI RHPKHVQQTD
VAATLAIALG LPIPKDSVGS LLFPVVEGRP MREQLRFLHL NTVQLSKLLQ ENVPSYEKDP
GFEQFKMSER LHGNWIRLYL EEKHSEVLFN LGSKVLRQYL DALKTLSLSL SAQVAQYDIY
SMMVGTVVVL EVLTLLLLSV PQALHRKAEL EVPLSSPGFS LLFYLVILVL SAVHVIVCTS
AESSCYFCGL SWLAAGGVMV LASALLCVIV SVLTNVLVGG NTPRKNPMHP SSRWSELDLL
ILLGTAGHVL SLGASSFVEE EHQTWYFLVN TLCLALSQET YRNYFLGDDG EPPCGLCVEQ
GHDGATAAWQ DGPGCDVLER DKGHGSPSTS EVLRGREKWM VLASPWLILA CCRLLRSLNQ
TGVQWAHRPD LGHWLTSSDH KAELSVLAAL SLLVVFVLVQ RGCSPVSKAA LALGLLGVYC
YRAAIGSVRF PWRPDSKDIS KGIIEARFVY VFVLGILFTG TKDLLKSQVI AADFKLKTVG
LWEIYSGLVL LAALLFRPHN LPVLAFSLLI QTLMTKFIWK PLRHDAAEIT VMHYWFGQAF
FYFQGNSNNI ATVDISAGFV GLDTYVEIPA VLLTAFGTYA GPVLWASHLV HFLSSETRSG
SALSHACFCY ALICSIPVFT YIVLVTSLRY HLFIWSVFSP KLLYEGMHLL ITAAVCVFFT
AMDQTRLTQS *
speed 1.01 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