Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 8 transcript(s)...
Querying Taster for transcript #1: ENST00000310340
Querying Taster for transcript #2: ENST00000453061
Querying Taster for transcript #3: ENST00000504346
Querying Taster for transcript #4: ENST00000503111
Querying Taster for transcript #5: ENST00000383028
Querying Taster for transcript #6: ENST00000509768
Querying Taster for transcript #7: ENST00000296306
Querying Taster for transcript #8: ENST00000536264
MT speed 0 s - this script 2.909499 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
PIGGpolymorphism_automatic1.80966353013901e-13simple_aaeaffectedR458Hsingle base exchangers13115344show file
PIGGpolymorphism_automatic2.30038210702332e-13simple_aaeaffectedR369Hsingle base exchangers13115344show file
PIGGpolymorphism_automatic2.30038210702332e-13simple_aaeaffectedR369Hsingle base exchangers13115344show file
PIGGpolymorphism_automatic2.30038210702332e-13simple_aaeaffectedR325Hsingle base exchangers13115344show file
PIGGpolymorphism_automatic4.0600856010542e-13simple_aaeaffectedR450Hsingle base exchangers13115344show file
PIGGpolymorphism_automatic4.35984581770299e-13simple_aaeaffectedA321Tsingle base exchangers13115344show file
PIGGpolymorphism_automatic1.22181164297075e-06without_aaeaffectedsingle base exchangers13115344show file
PIGGpolymorphism_automatic1.22181164297075e-06without_aaeaffectedsingle base exchangers13115344show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999819 (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 ENST00000453061
Genbank transcript ID NM_001127178
UniProt peptide Q5H8A4
alteration type single base exchange
alteration region CDS
DNA changes c.1373G>A
cDNA.1479G>A
g.22501G>A
AA changes R458H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 458
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 increased22502wt: 0.71 / mu: 0.88wt: CTGCGCAGAAAGGCT
mu: CTGCACAGAAAGGCT		 GCGC|agaa
Donor marginally increased22503wt: 0.9484 / mu: 0.9662 (marginal change - not scored)wt: TGCGCAGAAAGGCTG
mu: TGCACAGAAAGGCTG		 CGCA|gaaa
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      458TLLLLSVPQALRRKAELEVPLSSP
mutated  not conserved    458TLLLLSVPQALHRKAELEVPLSS
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  442LHIVISV-LYLDLTEQLQLDGLK
Celegans  no alignment  F28C6.4  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
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 2952 / 2952
position (AA) of stopcodon in wt / mu AA sequence 984 / 984
position of stopcodon in wt / mu cDNA 3058 / 3058
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 107 / 107
chromosome 4
strand 1
last intron/exon boundary 2842
theoretical NMD boundary in CDS 2685
length of CDS 2952
coding sequence (CDS) position 1373
cDNA position
(for ins/del: last normal base / first normal base)		 1479
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 DIYSMMVGTV VVLEVLTLLL LSVPQALRRK AELEVPLSSP GFSLLFYLVI
LVLSAVHVIV CTSAESSCYF CGLSWLAAGG VMVLASALLC VIVSVLTNVL VGGNTPRKNP
MHPSSRWSEL DLLILLGTAG HVLSLGASSF VEEEHQTWYF LVNTLCLALS QETYRNYFLG
DDGEPPCGLC VEQGHDGATA AWQDGPGCDV LERDKGHGSP STSEVLRGRE KWMVLASPWL
ILACCRLLRS LNQTGVQWAH RPDLGHWLTS SDHKAELSVL AALSLLVVFV LVQRGCSPVS
KAALALGLLG VYCYRAAIGS VRFPWRPDSK DISKGIIEAR FVYVFVLGIL FTGTKDLLKS
QVIAADFKLK TVGLWEIYSG LVLLAALLFR PHNLPVLAFS LLIQTLMTKF IWKPLRHDAA
EITVMHYWFG QAFFYFQGNS NNIATVDISA GFVGLDTYVE IPAVLLTAFG TYAGPVLWAS
HLVHFLSSET RSGSALSHAC FCYALICSIP VFTYIVLVTS LRYHLFIWSV FSPKLLYEGM
HLLITAAVCV FFTAMDQTRL TQS*
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 DIYSMMVGTV VVLEVLTLLL LSVPQALHRK AELEVPLSSP GFSLLFYLVI
LVLSAVHVIV CTSAESSCYF CGLSWLAAGG VMVLASALLC VIVSVLTNVL VGGNTPRKNP
MHPSSRWSEL DLLILLGTAG HVLSLGASSF VEEEHQTWYF LVNTLCLALS QETYRNYFLG
DDGEPPCGLC VEQGHDGATA AWQDGPGCDV LERDKGHGSP STSEVLRGRE KWMVLASPWL
ILACCRLLRS LNQTGVQWAH RPDLGHWLTS SDHKAELSVL AALSLLVVFV LVQRGCSPVS
KAALALGLLG VYCYRAAIGS VRFPWRPDSK DISKGIIEAR FVYVFVLGIL FTGTKDLLKS
QVIAADFKLK TVGLWEIYSG LVLLAALLFR PHNLPVLAFS LLIQTLMTKF IWKPLRHDAA
EITVMHYWFG QAFFYFQGNS NNIATVDISA GFVGLDTYVE IPAVLLTAFG TYAGPVLWAS
HLVHFLSSET RSGSALSHAC FCYALICSIP VFTYIVLVTS LRYHLFIWSV FSPKLLYEGM
HLLITAAVCV FFTAMDQTRL TQS*
speed 0.23 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
back to results table
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 ENST00000509768
Genbank transcript ID N/A
UniProt peptide Q5H8A4
alteration type single base exchange
alteration region CDS
DNA changes c.1106G>A
cDNA.1978G>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 increased22502wt: 0.71 / mu: 0.88wt: CTGCGCAGAAAGGCT
mu: CTGCACAGAAAGGCT		 GCGC|agaa
Donor marginally increased22503wt: 0.9484 / mu: 0.9662 (marginal change - not scored)wt: TGCGCAGAAAGGCTG
mu: TGCACAGAAAGGCTG		 CGCA|gaaa
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  503SIAVYLTIDVAQALLKIALPPLYTRR
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 1443 / 1443
position (AA) of stopcodon in wt / mu AA sequence 481 / 481
position of stopcodon in wt / mu cDNA 2315 / 2315
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 873 / 873
chromosome 4
strand 1
last intron/exon boundary 1938
theoretical NMD boundary in CDS 1015
length of CDS 1443
coding sequence (CDS) position 1106
cDNA position
(for ins/del: last normal base / first normal base)		 1978
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 LVGGNTPRKV RTAGSWECDV VLLLRLFLLF QAAFRLPDSG
*
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 LVGGNTPRKV RTAGSWECDV VLLLRLFLLF QAAFRLPDSG
*
speed 0.11 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
back to results table
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 increased22502wt: 0.71 / mu: 0.88wt: CTGCGCAGAAAGGCT
mu: CTGCACAGAAAGGCT		 GCGC|agaa
Donor marginally increased22503wt: 0.9484 / mu: 0.9662 (marginal change - not scored)wt: TGCGCAGAAAGGCTG
mu: TGCACAGAAAGGCTG		 CGCA|gaaa
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 0.14 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
back to results table
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 increased22502wt: 0.71 / mu: 0.88wt: CTGCGCAGAAAGGCT
mu: CTGCACAGAAAGGCT		 GCGC|agaa
Donor marginally increased22503wt: 0.9484 / mu: 0.9662 (marginal change - not scored)wt: TGCGCAGAAAGGCTG
mu: TGCACAGAAAGGCTG		 CGCA|gaaa
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 0.32 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
back to results table
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 increased22502wt: 0.71 / mu: 0.88wt: CTGCGCAGAAAGGCT
mu: CTGCACAGAAAGGCT		 GCGC|agaa
Donor marginally increased22503wt: 0.9484 / mu: 0.9662 (marginal change - not scored)wt: TGCGCAGAAAGGCTG
mu: TGCACAGAAAGGCTG		 CGCA|gaaa
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 0.13 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
back to results table
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 increased22502wt: 0.71 / mu: 0.88wt: CTGCGCAGAAAGGCT
mu: CTGCACAGAAAGGCT		 GCGC|agaa
Donor marginally increased22503wt: 0.9484 / mu: 0.9662 (marginal change - not scored)wt: TGCGCAGAAAGGCTG
mu: TGCACAGAAAGGCTG		 CGCA|gaaa
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 0.19 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
back to results table
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 increased22502wt: 0.71 / mu: 0.88wt: CTGCGCAGAAAGGCT
mu: CTGCACAGAAAGGCT		 GCGC|agaa
Donor marginally increased22503wt: 0.9484 / mu: 0.9662 (marginal change - not scored)wt: TGCGCAGAAAGGCTG
mu: TGCACAGAAAGGCTG		 CGCA|gaaa
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 0.11 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
back to results table
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 ENST00000296306
Genbank transcript ID N/A
UniProt peptide Q5H8A4
alteration type single base exchange
alteration region CDS
DNA changes c.888G>A
cDNA.1291G>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 increased22502wt: 0.71 / mu: 0.88wt: CTGCGCAGAAAGGCT
mu: CTGCACAGAAAGGCT		 GCGC|agaa
Donor marginally increased22503wt: 0.9484 / mu: 0.9662 (marginal change - not scored)wt: TGCGCAGAAAGGCTG
mu: TGCACAGAAAGGCTG		 CGCA|gaaa
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 1303 / 1303
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 404 / 404
chromosome 4
strand 1
last intron/exon boundary 2654
theoretical NMD boundary in CDS 2200
length of CDS 900
coding sequence (CDS) position 888
cDNA position
(for ins/del: last normal base / first normal base)		 1291
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 0.07 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
back to results table

Problems