Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999754 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:62516683G>CN/A show variant in all transcripts   IGV
HGNC symbol PATJ
Ensembl transcript ID ENST00000545929
Genbank transcript ID N/A
UniProt peptide Q8NI35
alteration type single base exchange
alteration region CDS
DNA changes c.97G>C
cDNA.389G>C
g.308535G>C
AA changes V33L Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 33
frameshift no
known variant Reference ID: rs2498982
databasehomozygous (C/C)heterozygousallele carriers
1000G88710851972
ExAC19393-601913374
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.2930
-0.2980
(flanking)0.6750
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 46
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      33TEPISSEEDGSVEVGIKQLPESES
mutated  all conserved    33TEPISSEEDGSLEVGIKQLPESE
Ptroglodytes  all conserved  ENSPTRG00000000806  1360TEPISSEEDGSLEVGIKQLPESE
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000061859  1366TELVSSEEESSVDA--KHLPEPE
Ggallus  all conserved  ENSGALG00000010934  1366TETPSSEEDPSLDVVMKSLSDEE
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000024964  n/a
Dmelanogaster  no alignment  FBgn0067864  n/a
Celegans  no alignment  C52A11.4  n/a
Xtropicalis  no alignment  ENSXETG00000030379  n/a
protein features
start (aa)end (aa)featuredetails 
165DOMAINL27.lost
3243HELIXlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 594 / 594
position (AA) of stopcodon in wt / mu AA sequence 198 / 198
position of stopcodon in wt / mu cDNA 886 / 886
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 293 / 293
chromosome 1
strand 1
last intron/exon boundary 689
theoretical NMD boundary in CDS 346
length of CDS 594
coding sequence (CDS) position 97
cDNA position
(for ins/del: last normal base / first normal base)		 389
gDNA position
(for ins/del: last normal base / first normal base)		 308535
chromosomal position
(for ins/del: last normal base / first normal base)		 62516683
original gDNA sequence snippet GTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAA
altered gDNA sequence snippet GTAGTGAGGAAGATGGCAGCCTCGAAGTTGGTATTAAACAA
original cDNA sequence snippet GTAGTGAGGAAGATGGCAGCGTCGAAGTTGGTATTAAACAA
altered cDNA sequence snippet GTAGTGAGGAAGATGGCAGCCTCGAAGTTGGTATTAAACAA
wildtype AA sequence MAVTPFPVPS SSPSSIEDQS GTEPISSEED GSVEVGIKQL PESESFKLAV SQMKQQKYPT
KVSFSSQEIP LAPASSYHST DADFTGYGGF QAPLSVDPAT CPIVPGQEMI IEISKGRSGL
GLSIVGGKDT PLVNGVDLRN SSHEEAITAL RQTPQKVRLV VYRDEAHYRD EENLEIFPVD
LQKKAGRGLG LSIVGKR*
mutated AA sequence MAVTPFPVPS SSPSSIEDQS GTEPISSEED GSLEVGIKQL PESESFKLAV SQMKQQKYPT
KVSFSSQEIP LAPASSYHST DADFTGYGGF QAPLSVDPAT CPIVPGQEMI IEISKGRSGL
GLSIVGGKDT PLVNGVDLRN SSHEEAITAL RQTPQKVRLV VYRDEAHYRD EENLEIFPVD
LQKKAGRGLG LSIVGKR*
speed 0.71 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