Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999564 (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 ENST00000536264
Genbank transcript ID N/A
UniProt peptide Q5H8A4
alteration type single base exchange
alteration region CDS
DNA changes c.961G>A
cDNA.1523G>A
g.22501G>A
AA changes A321T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 321
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      321PCSCSASHRHCAERLSWKSHCHLL
mutated  not conserved    321PCSCSASHRHCTERLSWKSHCHL
Ptroglodytes  no alignment  ENSPTRG00000015806  n/a
Mmulatta  no alignment  ENSMMUG00000017457  n/a
Fcatus  no alignment  ENSFCAG00000008218  n/a
Mmusculus  no alignment  ENSMUSG00000029263  n/a
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000007856  n/a
Drerio  no alignment  ENSDARG00000038270  n/a
Dmelanogaster  no alignment  FBgn0033187  n/a
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 1026 / 1026
position (AA) of stopcodon in wt / mu AA sequence 342 / 342
position of stopcodon in wt / mu cDNA 1588 / 1588
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 563 / 563
chromosome 4
strand 1
last intron/exon boundary 1483
theoretical NMD boundary in CDS 870
length of CDS 1026
coding sequence (CDS) position 961
cDNA position
(for ins/del: last normal base / first normal base)		 1523
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 MTGSLPGFVD VIRNLNSPAL LEDSVIRQAK AAGKRIVFYG DETWVKLFPK HFVEYDGTTS
FFVSDYTEVD NNVTRHLDKV LKRGDWDILI LHYLGLDHIG HISGPNSPLI GQKLSEMDSV
LMKIHTSLQS KERETPLPNL LVLCGDHGMS ETGSHGASST EEVNTPLILI SSAFERKPGD
IRHPKHVQQT DVAATLAIAL GLPIPKDSVG SLLFPVVEGR PMREQLRFLH LNTVQLSKLL
QENVPSYEKD PGFEQFKMSE RLHGNWIRLY LEEKHSEVLF NLGSKVLRQY LDALKTLSLS
LSAQVAQFSP CSCSASHRHC AERLSWKSHC HLLGFLCSFI W*
mutated AA sequence MTGSLPGFVD VIRNLNSPAL LEDSVIRQAK AAGKRIVFYG DETWVKLFPK HFVEYDGTTS
FFVSDYTEVD NNVTRHLDKV LKRGDWDILI LHYLGLDHIG HISGPNSPLI GQKLSEMDSV
LMKIHTSLQS KERETPLPNL LVLCGDHGMS ETGSHGASST EEVNTPLILI SSAFERKPGD
IRHPKHVQQT DVAATLAIAL GLPIPKDSVG SLLFPVVEGR PMREQLRFLH LNTVQLSKLL
QENVPSYEKD PGFEQFKMSE RLHGNWIRLY LEEKHSEVLF NLGSKVLRQY LDALKTLSLS
LSAQVAQFSP CSCSASHRHC TERLSWKSHC HLLGFLCSFI W*
speed 1.11 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