Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 2.73120308434437e-07 (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) chr14:102391577G>CN/A show variant in all transcripts   IGV
HGNC symbol PPP2R5C
Ensembl transcript ID ENST00000350249
Genbank transcript ID NM_178586
UniProt peptide Q13362
alteration type single base exchange
alteration region CDS
DNA changes c.1426G>C
cDNA.1566G>C
g.163443G>C
AA changes A476P Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 476
frameshift no
known variant Reference ID: rs3742424
databasehomozygous (C/C)heterozygousallele carriers
1000G101683784
ExAC11571093112088
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4071
5.6581
(flanking)4.0291
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 increased163441wt: 0.4576 / mu: 0.4785 (marginal change - not scored)wt: AGCCTTGGAAGCTCACTGCAGGGCCGATGAGCTGGCCTCCC
mu: AGCCTTGGAAGCTCACTGCAGGCCCGATGAGCTGGCCTCCC		 gcag|GGCC
Donor increased163435wt: 0.53 / mu: 0.62wt: AGCTCACTGCAGGGC
mu: AGCTCACTGCAGGCC		 CTCA|ctgc
Donor marginally increased163440wt: 0.6417 / mu: 0.6782 (marginal change - not scored)wt: ACTGCAGGGCCGATG
mu: ACTGCAGGCCCGATG		 TGCA|gggc
Donor marginally increased163445wt: 0.8893 / mu: 0.9617 (marginal change - not scored)wt: AGGGCCGATGAGCTG
mu: AGGCCCGATGAGCTG		 GGCC|gatg
distance from splice site 100
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      476HTKKALEAHCRADELASQDGR*
mutated  not conserved    476HTKKALEAHCRPDELA
Ptroglodytes  all identical  ENSPTRG00000006734  537AHCRADELASQDGR
Mmulatta  all identical  ENSMMUG00000000186  530HTKKALEAHCRADELASQDGR
Fcatus  all identical  ENSFCAG00000008937  522HTKNALEAHCRADQ
Mmusculus  all identical  ENSMUSG00000017843  515HTEKALEAHCRASELLSQDGR
Ggallus  all identical  ENSGALG00000011260  569LESHCRADELISHDG
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000059083  n/a
Dmelanogaster  not conserved  FBgn0042693  971GTVKALNEHKRTDE
Celegans  no alignment  C13G3.3  n/a
Xtropicalis  all identical  ENSXETG00000010224  569LESHCRADELISHDG
protein features
start (aa)end (aa)featuredetails 
494494CONFLICTR -> L (in Ref. 1; AAC50387).might get lost (downstream of altered splice site)
497497MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1458 / 1458
position (AA) of stopcodon in wt / mu AA sequence 486 / 486
position of stopcodon in wt / mu cDNA 1598 / 1598
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 141 / 141
chromosome 14
strand 1
last intron/exon boundary 1467
theoretical NMD boundary in CDS 1276
length of CDS 1458
coding sequence (CDS) position 1426
cDNA position
(for ins/del: last normal base / first normal base)		 1566
gDNA position
(for ins/del: last normal base / first normal base)		 163443
chromosomal position
(for ins/del: last normal base / first normal base)		 102391577
original gDNA sequence snippet CCTTGGAAGCTCACTGCAGGGCCGATGAGCTGGCCTCCCAG
altered gDNA sequence snippet CCTTGGAAGCTCACTGCAGGCCCGATGAGCTGGCCTCCCAG
original cDNA sequence snippet CCTTGGAAGCTCACTGCAGGGCCGATGAGCTGGCCTCCCAG
altered cDNA sequence snippet CCTTGGAAGCTCACTGCAGGCCCGATGAGCTGGCCTCCCAG
wildtype AA sequence MLTCNKAGSR MVVDAANSNG PFQPVVLLHI RDVPPADQEK LFIQKLRQCC VLFDFVSDPL
SDLKWKEVKR AALSEMVEYI THNRNVITEP IYPEVVHMFA VNMFRTLPPS SNPTGAEFDP
EEDEPTLEAA WPHLQLVYEF FLRFLESPDF QPNIAKKYID QKFVLQLLEL FDSEDPRERD
FLKTTLHRIY GKFLGLRAYI RKQINNIFYR FIYETEHHNG IAELLEILGS IINGFALPLK
EEHKIFLLKV LLPLHKVKSL SVYHPQLAYC VVQFLEKDST LTEPVVMALL KYWPKTHSPK
EVMFLNELEE ILDVIEPSEF VKIMEPLFRQ LAKCVSSPHF QVAERALYYW NNEYIMSLIS
DNAAKILPIM FPSLYRNSKT HWNKTIHGLI YNALKLFMEM NQKLFDDCTQ QFKAEKLKEK
LKMKEREEAW VKIENLAKAN PQAQKDPKKD RPLARRKSEL PQDPHTKKAL EAHCRADELA
SQDGR*
mutated AA sequence MLTCNKAGSR MVVDAANSNG PFQPVVLLHI RDVPPADQEK LFIQKLRQCC VLFDFVSDPL
SDLKWKEVKR AALSEMVEYI THNRNVITEP IYPEVVHMFA VNMFRTLPPS SNPTGAEFDP
EEDEPTLEAA WPHLQLVYEF FLRFLESPDF QPNIAKKYID QKFVLQLLEL FDSEDPRERD
FLKTTLHRIY GKFLGLRAYI RKQINNIFYR FIYETEHHNG IAELLEILGS IINGFALPLK
EEHKIFLLKV LLPLHKVKSL SVYHPQLAYC VVQFLEKDST LTEPVVMALL KYWPKTHSPK
EVMFLNELEE ILDVIEPSEF VKIMEPLFRQ LAKCVSSPHF QVAERALYYW NNEYIMSLIS
DNAAKILPIM FPSLYRNSKT HWNKTIHGLI YNALKLFMEM NQKLFDDCTQ QFKAEKLKEK
LKMKEREEAW VKIENLAKAN PQAQKDPKKD RPLARRKSEL PQDPHTKKAL EAHCRPDELA
SQDGR*
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