Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999992218616 (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) chr19:813220T>CN/A show variant in all transcripts   IGV
HGNC symbol PLPPR3
Ensembl transcript ID ENST00000520876
Genbank transcript ID NM_001270366
UniProt peptide Q6T4P5
alteration type single base exchange
alteration region CDS
DNA changes c.1507A>G
cDNA.1597A>G
g.8759A>G
AA changes T503A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 503
frameshift no
known variant Reference ID: rs351994
databasehomozygous (C/C)heterozygousallele carriers
1000G3567681124
ExAC96465177481
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Gabp, Transcription Factor, Gabp TF binding
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5330.048
0.6740.353
(flanking)0.6390.411
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained87580.32mu: GCGCAGGCGGGGGCC GCAG|gcgg
distance from splice site 676
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      503PLVHIPEEGAQTGAGLSPKSGAGV
mutated  not conserved    503PLVHIPEEGAQAGAGLSPKSGAG
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000035835  500PLVHIPEEGVQAGAGLSPKSSSSS
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000011591  19PLVHIPEEALRPPP-VSPKS-AK
Drerio  not conserved  ENSDARG00000010144  510QLVHIPEE-ATRPPPVSPKS-AI
Dmelanogaster  no homologue    
Celegans  no alignment  T06D8.3  n/a
Xtropicalis  not conserved  ENSXETG00000021653  489PLLHIPEE----NQGGSPKGSSA
protein features
start (aa)end (aa)featuredetails 
558567COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2157 / 2157
position (AA) of stopcodon in wt / mu AA sequence 719 / 719
position of stopcodon in wt / mu cDNA 2247 / 2247
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 91 / 91
chromosome 19
strand -1
last intron/exon boundary 922
theoretical NMD boundary in CDS 781
length of CDS 2157
coding sequence (CDS) position 1507
cDNA position
(for ins/del: last normal base / first normal base)		 1597
gDNA position
(for ins/del: last normal base / first normal base)		 8759
chromosomal position
(for ins/del: last normal base / first normal base)		 813220
original gDNA sequence snippet TCCCGGAGGAGGGCGCGCAGACGGGGGCCGGCCTGTCCCCC
altered gDNA sequence snippet TCCCGGAGGAGGGCGCGCAGGCGGGGGCCGGCCTGTCCCCC
original cDNA sequence snippet TCCCGGAGGAGGGCGCGCAGACGGGGGCCGGCCTGTCCCCC
altered cDNA sequence snippet TCCCGGAGGAGGGCGCGCAGGCGGGGGCCGGCCTGTCCCCC
wildtype AA sequence MISTKEKNKI PKDSMTLLPC FYFVELPIVA SSIVSLYFLE LTDLFKPAKV GFQCYDRTLS
MPYVETNEEL IPLLMLLSLA FAAPAASIMV AEGMLYCLQS RLWGRAGGPA GAEGSINAGG
CNFNSFLRRT VRFVGVHVFG LCATALVTDV IQLATGYHTP FFLTVCKPNY TLLGTSCEVN
PYITQDICSG HDIHAILSAR KTFPSQHATL SAFAAVYVSM YFNSVISDTT KLLKPILVFA
FAIAAGVCGL TQITQYRSHP VDVYAGFLIG AGIAAYLACH AVGNFQAPPA EKPAAPAPAK
DALRALTQRG HDSVYQQNKS VSTDELGPPG RLEGAPRPVA REKTSLGSLK RASVDVDLLA
PRSPMAKENM VTFSHTLPRA SAPSLDDPAR RHMTIHVPLD ASRSKQLISE WKQKSLEGRG
LGLPDDASPG HLRAPAEPMA EEEEEEEDEE EEEEEEEEED EGPAPPSLYP TVQARPGLGP
RVILPPRAGP PPLVHIPEEG AQTGAGLSPK SGAGVRAKWL MMAEKSGAAV ANPPRLLQVI
AMSKAPGAPG PKAAETASSS SASSDSSQYR SPSDRDSASI VTIDAHAPHH PVVHLSAGGA
PWEWKAAGGG AKAEADGGYE LGDLARGFRG GAKPPGVSPG SSVSDVDQEE PRFGAVATVN
LATGEGLPPL GAADGALGPG SRESTLRRHA GGLGLAEREA EAEAEGYFRK MQARRFPD*
mutated AA sequence MISTKEKNKI PKDSMTLLPC FYFVELPIVA SSIVSLYFLE LTDLFKPAKV GFQCYDRTLS
MPYVETNEEL IPLLMLLSLA FAAPAASIMV AEGMLYCLQS RLWGRAGGPA GAEGSINAGG
CNFNSFLRRT VRFVGVHVFG LCATALVTDV IQLATGYHTP FFLTVCKPNY TLLGTSCEVN
PYITQDICSG HDIHAILSAR KTFPSQHATL SAFAAVYVSM YFNSVISDTT KLLKPILVFA
FAIAAGVCGL TQITQYRSHP VDVYAGFLIG AGIAAYLACH AVGNFQAPPA EKPAAPAPAK
DALRALTQRG HDSVYQQNKS VSTDELGPPG RLEGAPRPVA REKTSLGSLK RASVDVDLLA
PRSPMAKENM VTFSHTLPRA SAPSLDDPAR RHMTIHVPLD ASRSKQLISE WKQKSLEGRG
LGLPDDASPG HLRAPAEPMA EEEEEEEDEE EEEEEEEEED EGPAPPSLYP TVQARPGLGP
RVILPPRAGP PPLVHIPEEG AQAGAGLSPK SGAGVRAKWL MMAEKSGAAV ANPPRLLQVI
AMSKAPGAPG PKAAETASSS SASSDSSQYR SPSDRDSASI VTIDAHAPHH PVVHLSAGGA
PWEWKAAGGG AKAEADGGYE LGDLARGFRG GAKPPGVSPG SSVSDVDQEE PRFGAVATVN
LATGEGLPPL GAADGALGPG SRESTLRRHA GGLGLAEREA EAEAEGYFRK MQARRFPD*
speed 1.26 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