Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.681472412852996 (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) chr6:42891022G>AN/A show variant in all transcripts   IGV
HGNC symbol PTCRA
Ensembl transcript ID ENST00000304672
Genbank transcript ID NM_138296
UniProt peptide Q6ISU1
alteration type single base exchange
alteration region CDS
DNA changes c.316G>A
cDNA.397G>A
g.7296G>A
AA changes V106I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 106
frameshift no
known variant Reference ID: rs9471966
databasehomozygous (A/A)heterozygousallele carriers
1000G1968121008
ExAC38932113025023
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0980.991
1.9310.998
(flanking)2.7840.997
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased7299wt: 0.69 / mu: 0.86wt: CATCCTGGGAGCCTTTGGTCTGCCACACTGGGCCTGGGGCT
mu: CATCCTGGGAGCCTTTGATCTGCCACACTGGGCCTGGGGCT		 gtct|GCCA
distance from splice site 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      106PSEELASWEPLVCHTGPGAEGHSR
mutated  all conserved    106PSEELASWEPLICHTGPGAEGHS
Ptroglodytes  all identical  ENSPTRG00000018176  81PSEELASWEPLVCHTGPGAEGHS
Mmulatta  all identical  ENSMMUG00000000460  106PSEELASWEPLVCHTGPGAEGHS
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000036858  106PSEELEAWEPLVCHTRPGAGGQN
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
24146TOPO_DOMExtracellular (Potential).lost
104109STRANDlost
107107DISULFIDmight get lost (downstream of altered splice site)
135135DISULFIDInterchain (with TCRB) (Probable).might get lost (downstream of altered splice site)
135135DISULFIDInterchain (with TCRB) (Probable).might get lost (downstream of altered splice site)
147167TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
168281TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
256256CONFLICTA -> R (in Ref. 1; AAB06194, 2; AAC83346, 3; AAF89556 and 6; AAB18373).might get lost (downstream of altered splice site)
269269CONFLICTA -> R (in Ref. 1; AAB06194).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 846 / 846
position (AA) of stopcodon in wt / mu AA sequence 282 / 282
position of stopcodon in wt / mu cDNA 927 / 927
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 82 / 82
chromosome 6
strand 1
last intron/exon boundary 506
theoretical NMD boundary in CDS 374
length of CDS 846
coding sequence (CDS) position 316
cDNA position
(for ins/del: last normal base / first normal base)		 397
gDNA position
(for ins/del: last normal base / first normal base)		 7296
chromosomal position
(for ins/del: last normal base / first normal base)		 42891022
original gDNA sequence snippet TGGCATCCTGGGAGCCTTTGGTCTGCCACACTGGGCCTGGG
altered gDNA sequence snippet TGGCATCCTGGGAGCCTTTGATCTGCCACACTGGGCCTGGG
original cDNA sequence snippet TGGCATCCTGGGAGCCTTTGGTCTGCCACACTGGGCCTGGG
altered cDNA sequence snippet TGGCATCCTGGGAGCCTTTGATCTGCCACACTGGGCCTGGG
wildtype AA sequence MAGTWLLLLL ALGCPALPTG VGGTPFPSLA PPIMLLVDGK QQMVVVCLVL DVAPPGLDSP
IWFSAGNGSA LDAFTYGPSP ATDGTWTNLA HLSLPSEELA SWEPLVCHTG PGAEGHSRST
QPMHLSGEAS TARTCPQEPL RGTPGGALWL GVLRLLLFKL LLFDLLLTCS CLCDPAGPLP
SPATTTRLRA LGSHRLHPAT ETGGREATSS PRPQPRDRRW GDTPPGRKPG SPVWGEGSYL
SSYPTCPAQA WCSRSALRAP SSSLGAFFAG DLPPPLQAGA A*
mutated AA sequence MAGTWLLLLL ALGCPALPTG VGGTPFPSLA PPIMLLVDGK QQMVVVCLVL DVAPPGLDSP
IWFSAGNGSA LDAFTYGPSP ATDGTWTNLA HLSLPSEELA SWEPLICHTG PGAEGHSRST
QPMHLSGEAS TARTCPQEPL RGTPGGALWL GVLRLLLFKL LLFDLLLTCS CLCDPAGPLP
SPATTTRLRA LGSHRLHPAT ETGGREATSS PRPQPRDRRW GDTPPGRKPG SPVWGEGSYL
SSYPTCPAQA WCSRSALRAP SSSLGAFFAG DLPPPLQAGA A*
speed 0.87 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