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mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999998747337 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM058363)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:121838319G>AN/A show variant in all transcripts   IGV
HGNC symbol CD86
Ensembl transcript ID ENST00000493101
Genbank transcript ID NM_001206924
UniProt peptide P42081
alteration type single base exchange
alteration region CDS
DNA changes c.592G>A
cDNA.716G>A
g.64107G>A
AA changes A198T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 198
frameshift no
known variant Reference ID: rs1129055
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC65461967526221

known disease mutation at this position, please check HGMD for details (HGMD ID CM058363)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9750.031
1.290.034
(flanking)-0.9870
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased64108wt: 0.80 / mu: 0.92wt: TGAAGCCCAGCGTGT
mu: TGAAACCCAGCGTGT		 AAGC|ccag
distance from splice site 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      198EKIHIPERSDEAQRVFKSSKTSSC
mutated  not conserved    198EKIHIPERSDETQRVFKSSKTSS
Ptroglodytes  all identical  ENSPTRG00000015288  310EKIHIPERSDEAQRV
Mmulatta  all identical  ENSMMUG00000000912  309EKINVPERSDEAQCV
Fcatus  all identical  ENSFCAG00000008716  309VPYHVPERSDEAQCV-NILKTAS
Mmusculus  no alignment  ENSMUSG00000022901  n/a
Ggallus  no alignment  ENSGALG00000014362  n/a
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
24247TOPO_DOMExtracellular (Potential).lost
150225DOMAINIg-like C2-type.lost
213213CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
218218DISULFIDPotential.might get lost (downstream of altered splice site)
248268TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
269329TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 654 / 654
position (AA) of stopcodon in wt / mu AA sequence 218 / 218
position of stopcodon in wt / mu cDNA 778 / 778
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 125 / 125
chromosome 3
strand 1
last intron/exon boundary 682
theoretical NMD boundary in CDS 507
length of CDS 654
coding sequence (CDS) position 592
cDNA position
(for ins/del: last normal base / first normal base)		 716
gDNA position
(for ins/del: last normal base / first normal base)		 64107
chromosomal position
(for ins/del: last normal base / first normal base)		 121838319
original gDNA sequence snippet TACCTGAAAGATCTGATGAAGCCCAGCGTGTTTTTAAAAGT
altered gDNA sequence snippet TACCTGAAAGATCTGATGAAACCCAGCGTGTTTTTAAAAGT
original cDNA sequence snippet TACCTGAAAGATCTGATGAAGCCCAGCGTGTTTTTAAAAGT
altered cDNA sequence snippet TACCTGAAAGATCTGATGAAACCCAGCGTGTTTTTAAAAGT
wildtype AA sequence MDPQCTMGLS NILFVMAFLL SANFSQPEIV PISNITENVY INLTCSSIHG YPEPKKMSVL
LRTKNSTIEY DGVMQKSQDN VTELYDVSIS LSVSFPDVTS NMTIFCILET DKTRLLSSPF
SIELEDPQPP PDHIPWITAV LPTVIICVMV FCLILWKWKK KKRPRNSYKC GTNTMEREES
EQTKKREKIH IPERSDEAQR VFKSSKTSSC DKSDTCF*
mutated AA sequence MDPQCTMGLS NILFVMAFLL SANFSQPEIV PISNITENVY INLTCSSIHG YPEPKKMSVL
LRTKNSTIEY DGVMQKSQDN VTELYDVSIS LSVSFPDVTS NMTIFCILET DKTRLLSSPF
SIELEDPQPP PDHIPWITAV LPTVIICVMV FCLILWKWKK KKRPRNSYKC GTNTMEREES
EQTKKREKIH IPERSDETQR VFKSSKTSSC DKSDTCF*
speed 1.34 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