Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999998778188357 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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 ENST00000503111
Genbank transcript ID N/A
UniProt peptide Q5H8A4
alteration type single base exchange
alteration region CDS
DNA changes c.888G>A
cDNA.1487G>A
g.22501G>A
AA changes no AA changes
position(s) of altered AA
if AA alteration in CDS		 N/A
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		 N/A
protein features
start (aa)end (aa)featuredetails 
1431TOPO_DOMLumenal (Potential).might get lost (downstream of altered splice site)
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 no
position of stopcodon in wt / mu CDS 900 / 900
position (AA) of stopcodon in wt / mu AA sequence 300 / 300
position of stopcodon in wt / mu cDNA 1499 / 1499
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 600 / 600
chromosome 4
strand 1
last intron/exon boundary 1447
theoretical NMD boundary in CDS 797
length of CDS 900
coding sequence (CDS) position 888
cDNA position
(for ins/del: last normal base / first normal base)		 1487
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 EKGSHPAPAQ RPTGTAQKG*
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 EKGSHPAPAQ RPTGTAQKG*
speed 0.53 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