Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999975996 (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) chr7:99971834A>GN/A show variant in all transcripts   IGV
HGNC symbol PILRA
Ensembl transcript ID ENST00000394000
Genbank transcript ID NM_178273
UniProt peptide Q9UKJ1
alteration type single base exchange
alteration region CDS
DNA changes c.232A>G
cDNA.361A>G
g.6682A>G
AA changes R78G Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 78
frameshift no
known variant Reference ID: rs1859788
databasehomozygous (G/G)heterozygousallele carriers
1000G11889232111
ExAC27836-229054931
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
DNase1, Open Chromatin, DNase1 Hypersensitive Site
EBF, Transcription Factor, EBF Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
NFKB, Transcription Factor, NFKB Transcription Factor Binding
Pax5, Transcription Factor, Pax5 Transcription Factor Binding
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Rad21, Transcription Factor, Rad21 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.830.118
0.9560.114
(flanking)0.9030.09
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased6681wt: 0.27 / mu: 0.97wt: TTCCACAGGCAGTCC
mu: TTCCACGGGCAGTCC		 CCAC|aggc
distance from splice site 168
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      78VRISWRRGHFHRQSFYSTRPPSIH
mutated  not conserved    78VRISWRRGHFHGQSFYSTRPPSI
Ptroglodytes  not conserved  ENSPTRG00000019485  78VRISWRRGHFHGQSFYSTRPPSI
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000066684  85MSIAWKWKDFHGEVIYNSSLPFI
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 
20197TOPO_DOMExtracellular (Potential).lost
32150DOMAINIg-like V-type.lost
9292CONFLICTD -> E (in Ref. 2; CAC01615).might get lost (downstream of altered splice site)
100100CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
198218TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
219303TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
267272MOTIFITIM motif 1.might get lost (downstream of altered splice site)
269269MUTAGENY->F: Greatly diminishes interaction with PTPN6.might get lost (downstream of altered splice site)
281281CONFLICTR -> K (in Ref. 1; AAD52964).might get lost (downstream of altered splice site)
296301MOTIFITIM motif 2.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 528 / 528
position (AA) of stopcodon in wt / mu AA sequence 176 / 176
position of stopcodon in wt / mu cDNA 657 / 657
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 130 / 130
chromosome 7
strand 1
last intron/exon boundary 666
theoretical NMD boundary in CDS 486
length of CDS 528
coding sequence (CDS) position 232
cDNA position
(for ins/del: last normal base / first normal base)		 361
gDNA position
(for ins/del: last normal base / first normal base)		 6682
chromosomal position
(for ins/del: last normal base / first normal base)		 99971834
original gDNA sequence snippet GGAGACGGGGCCACTTCCACAGGCAGTCCTTCTACAGCACA
altered gDNA sequence snippet GGAGACGGGGCCACTTCCACGGGCAGTCCTTCTACAGCACA
original cDNA sequence snippet GGAGACGGGGCCACTTCCACAGGCAGTCCTTCTACAGCACA
altered cDNA sequence snippet GGAGACGGGGCCACTTCCACGGGCAGTCCTTCTACAGCACA
wildtype AA sequence MGRPLLLPLL PLLLPPAFLQ PSGSTGSGPS YLYGVTQPKH LSASMGGSVE IPFSFYYPWE
LATAPDVRIS WRRGHFHRQS FYSTRPPSIH KDYVNRLFLN WTEGQKSGFL RISNLQKQDQ
SVYFCRVELD TRSSGRQQWQ SIEGTKLSIT QGNPSKTQRS HMRISGMKDK IQIPS*
mutated AA sequence MGRPLLLPLL PLLLPPAFLQ PSGSTGSGPS YLYGVTQPKH LSASMGGSVE IPFSFYYPWE
LATAPDVRIS WRRGHFHGQS FYSTRPPSIH KDYVNRLFLN WTEGQKSGFL RISNLQKQDQ
SVYFCRVELD TRSSGRQQWQ SIEGTKLSIT QGNPSKTQRS HMRISGMKDK IQIPS*
speed 0.80 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