Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.843723128784204 (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) chr19:39915758C>GN/A show variant in all transcripts   IGV
HGNC symbol PLEKHG2
Ensembl transcript ID ENST00000409794
Genbank transcript ID NM_022835
UniProt peptide Q9H7P9
alteration type single base exchange
alteration region CDS
DNA changes c.3985C>G
cDNA.4835C>G
g.12534C>G
AA changes P1329A Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1329
frameshift no
known variant Reference ID: rs31728
databasehomozygous (G/G)heterozygousallele carriers
1000G87312202093
ExAC15219232917548
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5940.095
1.3410.99
(flanking)1.5670.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased12537wt: 0.4300 / mu: 0.4337 (marginal change - not scored)wt: CCCAGCCACCACCTCCCCCAGCCAGGCGGCTCAGCTATGCC
mu: CCCAGCCACCACCTCCCGCAGCCAGGCGGCTCAGCTATGCC		 ccag|CCAG
Acc gained125330.54mu: CAGCCCCAGCCACCACCTCCCGCAGCCAGGCGGCTCAGCTA tccc|GCAG
distance from splice site 397
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1329SPPPQPQPPPPPARRLSYATTVNI
mutated  not conserved    1329PQPQPPPPAARRLSYATTVN
Ptroglodytes  all identical  ENSPTRG00000010969  984SPPPQPQPPPPPARRLRYATTVN
Mmulatta  all identical  ENSMMUG00000019369  1287SPPPQPQPPPPPARRLSYATTVN
Fcatus  all identical  ENSFCAG00000010742  1274SPPPQPQPPPPPARRLSYATTVN
Mmusculus  all identical  ENSMUSG00000037552  1312SPPPQPQPPAPPARRLSYATTVS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0050115  n/a
Celegans  no alignment  F32F2.1  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
13191328COMPBIASPoly-Pro.might get lost (downstream of altered splice site)
13441347COMPBIASPoly-Gly.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4161 / 4161
position (AA) of stopcodon in wt / mu AA sequence 1387 / 1387
position of stopcodon in wt / mu cDNA 5011 / 5011
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 851 / 851
chromosome 19
strand 1
last intron/exon boundary 3450
theoretical NMD boundary in CDS 2549
length of CDS 4161
coding sequence (CDS) position 3985
cDNA position
(for ins/del: last normal base / first normal base)		 4835
gDNA position
(for ins/del: last normal base / first normal base)		 12534
chromosomal position
(for ins/del: last normal base / first normal base)		 39915758
original gDNA sequence snippet AGCCCCAGCCACCACCTCCCCCAGCCAGGCGGCTCAGCTAT
altered gDNA sequence snippet AGCCCCAGCCACCACCTCCCGCAGCCAGGCGGCTCAGCTAT
original cDNA sequence snippet AGCCCCAGCCACCACCTCCCCCAGCCAGGCGGCTCAGCTAT
altered cDNA sequence snippet AGCCCCAGCCACCACCTCCCGCAGCCAGGCGGCTCAGCTAT
wildtype AA sequence MPEGAQGLSL SKPSPSLGCG RRGEVCDCGT VCETRTAPAA PTMASPRGSG SSTSLSTVGS
EGDPAPGPTP ACSASRPEPL PGPPIRLHLS PVGIPGSARP SRLERVAREI VETERAYVRD
LRSIVEDYLG PLLDGGVLGL SVEQVGTLFA NIEDIYEFSS ELLEDLENSS SAGGIAECFV
QRSEDFDIYT LYCMNYPSSL ALLRELSLSP PAALWLQERQ AQLRHSLPLQ SFLLKPVQRI
LKYHLLLQEL GKHWAEGPGT GGREMVEEAI VSMTAVAWYI NDMKRKQEHA ARLQEVQRRL
GGWTGPELSA FGELVLEGAF RGGGGGGPRL RGGERLLFLF SRMLLVAKRR GLEYTYKGHI
FCCNLSVSES PRDPLGFKVS DLTIPKHRHL LQAKNQEEKR LWIHCLQRLF FENHPASIPA
KAKQVLLENS LHCAPKSKPV LEPLTPPLGS PRPRDARSFT PGRRNTAPSP GPSVIRRGRR
QSEPVKDPYV MFPQNAKPGF KHAGSEGELY PPESQPPVSG SAPPEDLEDA GPPTLDPSGT
SITEEILELL NQRGLRDPGP STHDIPKFPG DSQVPGDSET LTFQALPSRD SSEEEEEEEE
GLEMDERGPS PLHVLEGLES SIAAEMPSIP CLTKIPDVPN LPEIPSRCEI PEGSRLPSLS
DISDVFEMPC LPAIPSVPNT PSLSSTPTLS CDSWLQGPLQ EPAEAPATRR ELFSGSNPGK
LGEPPSGGKA GPEEDEEGVS FTDFQPQDVT QHQGFPDELA FRSCSEIRSA WQALEQGQLA
RPGFPEPLLI LEDSDLGGDS GSGKAGAPSS ERTASRVREL ARLYSERIQQ MQRAETRASA
NAPRRRPRVL AQPQPSPCLP QEQAEPGLLP AFGHVLVCEL AFPLTCAQES VPLGPAVWVQ
AAIPLSKQGG SPDGQGLHVS NLPKQDLPGI HVSAATLLPE QGGSRHVQAP AATPLPKQEG
PLHLQVPALT TFSDQGHPEI QVPATTPLPE HRSHMVIPAP STAFCPEQGH CADIHVPTTP
ALPKEICSDF TVSVTTPVPK QEGHLDSESP TNIPLTKQGG SRDVQGPDPV CSQPIQPLSW
HGSSLDPQGP GDTLPPLPCH LPDLQIPGTS PLPAHGSHLD HRIPANAPLS LSQELPDTQV
PATTPLPLPQ VLTDIWVQAL PTSPKQGSLP DIQGPAAAPP LPEPSLTDTQ VQKLTPSLEQ
KSLIDAHVPA ATPLPERGGS LDIQGLSPTP VQTTMVLSKP GGSLASHVAR LESSDLTPPH
SPPPSSRQLL GPNAAALSRY LAASYISQSL ARRQGPGGGA PAASRGSWSS APTSRASSPP
PQPQPPPPPA RRLSYATTVN IHVGGGGRLR PAKAQVRLNH PALLASTQES MGLHRAQGAP
DAPFHM*
mutated AA sequence MPEGAQGLSL SKPSPSLGCG RRGEVCDCGT VCETRTAPAA PTMASPRGSG SSTSLSTVGS
EGDPAPGPTP ACSASRPEPL PGPPIRLHLS PVGIPGSARP SRLERVAREI VETERAYVRD
LRSIVEDYLG PLLDGGVLGL SVEQVGTLFA NIEDIYEFSS ELLEDLENSS SAGGIAECFV
QRSEDFDIYT LYCMNYPSSL ALLRELSLSP PAALWLQERQ AQLRHSLPLQ SFLLKPVQRI
LKYHLLLQEL GKHWAEGPGT GGREMVEEAI VSMTAVAWYI NDMKRKQEHA ARLQEVQRRL
GGWTGPELSA FGELVLEGAF RGGGGGGPRL RGGERLLFLF SRMLLVAKRR GLEYTYKGHI
FCCNLSVSES PRDPLGFKVS DLTIPKHRHL LQAKNQEEKR LWIHCLQRLF FENHPASIPA
KAKQVLLENS LHCAPKSKPV LEPLTPPLGS PRPRDARSFT PGRRNTAPSP GPSVIRRGRR
QSEPVKDPYV MFPQNAKPGF KHAGSEGELY PPESQPPVSG SAPPEDLEDA GPPTLDPSGT
SITEEILELL NQRGLRDPGP STHDIPKFPG DSQVPGDSET LTFQALPSRD SSEEEEEEEE
GLEMDERGPS PLHVLEGLES SIAAEMPSIP CLTKIPDVPN LPEIPSRCEI PEGSRLPSLS
DISDVFEMPC LPAIPSVPNT PSLSSTPTLS CDSWLQGPLQ EPAEAPATRR ELFSGSNPGK
LGEPPSGGKA GPEEDEEGVS FTDFQPQDVT QHQGFPDELA FRSCSEIRSA WQALEQGQLA
RPGFPEPLLI LEDSDLGGDS GSGKAGAPSS ERTASRVREL ARLYSERIQQ MQRAETRASA
NAPRRRPRVL AQPQPSPCLP QEQAEPGLLP AFGHVLVCEL AFPLTCAQES VPLGPAVWVQ
AAIPLSKQGG SPDGQGLHVS NLPKQDLPGI HVSAATLLPE QGGSRHVQAP AATPLPKQEG
PLHLQVPALT TFSDQGHPEI QVPATTPLPE HRSHMVIPAP STAFCPEQGH CADIHVPTTP
ALPKEICSDF TVSVTTPVPK QEGHLDSESP TNIPLTKQGG SRDVQGPDPV CSQPIQPLSW
HGSSLDPQGP GDTLPPLPCH LPDLQIPGTS PLPAHGSHLD HRIPANAPLS LSQELPDTQV
PATTPLPLPQ VLTDIWVQAL PTSPKQGSLP DIQGPAAAPP LPEPSLTDTQ VQKLTPSLEQ
KSLIDAHVPA ATPLPERGGS LDIQGLSPTP VQTTMVLSKP GGSLASHVAR LESSDLTPPH
SPPPSSRQLL GPNAAALSRY LAASYISQSL ARRQGPGGGA PAASRGSWSS APTSRASSPP
PQPQPPPPAA RRLSYATTVN IHVGGGGRLR PAKAQVRLNH PALLASTQES MGLHRAQGAP
DAPFHM*
speed 0.80 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