Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999821 (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 ENST00000543708
Genbank transcript ID N/A
UniProt peptide Q8NI35
alteration type single base exchange
alteration region CDS
DNA changes c.430G>C
cDNA.508G>C
g.308535G>C
AA changes V144L Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 144
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      144TEPISSEEDGSVEVGIKQLPESES
mutated  all conserved    144TEPISSEEDGSLEVGIKQLPESE
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  not conserved  ENSDARG00000024964  1355VTATASSDPTHKSLTDG--ESAV
Dmelanogaster  not conserved  FBgn0067864  446ATTSSATTTPSRSITRELEEEALPAPE
Celegans  not conserved  C52A11.4  2021LAPSESKSTAP------QMPTTT
Xtropicalis  no alignment  ENSXETG00000030379  n/a
protein features
start (aa)end (aa)featuredetails 
134221DOMAINPDZ 1.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1359 / 1359
position (AA) of stopcodon in wt / mu AA sequence 453 / 453
position of stopcodon in wt / mu cDNA 1437 / 1437
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 1
strand 1
last intron/exon boundary 1324
theoretical NMD boundary in CDS 1195
length of CDS 1359
coding sequence (CDS) position 430
cDNA position
(for ins/del: last normal base / first normal base)		 508
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 MVQGGFPEKI RQRYADLPGE LHIIELEKDK NGLGLSLAGN KDRSRMSIFV VGINPEGPAA
ADGRMRIGDE LLEINNQILY GRSHQNASAI IKTAPSKVKL VFIRNEDAVN QMAVTPFPVP
SSSPSSIEDQ SGTEPISSEE DGSVEVGIKQ LPESESFKLA VSQMKQQKYP TKVSFSSQEI
PLAPASSYHS TDADFTGYGG FQAPLSVDPA TCPIVPGQEM IIEISKGRSG LGLSIVGGKD
TPLFWRLGSP RAWSQHLVRA FMLHHPVTEV EGQNAIVIHE VYEEGAAARD GRLWAGDQIL
EVNGVDLRNS SHEEAITALR QTPQKVRLVV YRDEAHYRDE ENLEIFPVDL QKKAGRGLGL
SIVGKRNGSG VFISDIVKGG AADLDGRLIQ GDQILSVNGE DMRNASQETV ATILKCAQGL
VQLEIGRLRA GSWTSARTTS QNSQVVDGFS SD*
mutated AA sequence MVQGGFPEKI RQRYADLPGE LHIIELEKDK NGLGLSLAGN KDRSRMSIFV VGINPEGPAA
ADGRMRIGDE LLEINNQILY GRSHQNASAI IKTAPSKVKL VFIRNEDAVN QMAVTPFPVP
SSSPSSIEDQ SGTEPISSEE DGSLEVGIKQ LPESESFKLA VSQMKQQKYP TKVSFSSQEI
PLAPASSYHS TDADFTGYGG FQAPLSVDPA TCPIVPGQEM IIEISKGRSG LGLSIVGGKD
TPLFWRLGSP RAWSQHLVRA FMLHHPVTEV EGQNAIVIHE VYEEGAAARD GRLWAGDQIL
EVNGVDLRNS SHEEAITALR QTPQKVRLVV YRDEAHYRDE ENLEIFPVDL QKKAGRGLGL
SIVGKRNGSG VFISDIVKGG AADLDGRLIQ GDQILSVNGE DMRNASQETV ATILKCAQGL
VQLEIGRLRA GSWTSARTTS QNSQVVDGFS SD*
speed 0.76 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