Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999988 (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) chr17:41931375A>GN/A show variant in all transcripts   IGV
HGNC symbol CD300LG
Ensembl transcript ID ENST00000377203
Genbank transcript ID NM_001168323
UniProt peptide Q6UXG3
alteration type single base exchange
alteration region CDS
DNA changes c.580A>G
cDNA.649A>G
g.6860A>G
AA changes T194A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 194
frameshift no
known variant Reference ID: rs12453522
databasehomozygous (G/G)heterozygousallele carriers
1000G239675914
ExAC28091571518524
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1940.002
-0.9520
(flanking)1.1780.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6853wt: 0.7143 / mu: 0.7450 (marginal change - not scored)wt: TCAGCAGAGGACACC
mu: TCAGCAGAGGACGCC		 AGCA|gagg
distance from splice site 38
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      194PMQLDSTSAEDTSPALSSGSSKPR
mutated  not conserved    194PMQLDSTSAEDASPALSSGSSKP
Ptroglodytes  not conserved  ENSPTRG00000009253  228PMQLDSTSAEDASPALSSGSSKP
Mmulatta  not conserved  ENSMMUG00000013263  143PKQLDSTSAEDASPALSSGSSKP
Fcatus  all identical  ENSFCAG00000009914  101PAWTEDTRLA-PSRTSLS
Mmusculus  not conserved  ENSMUSG00000017309  270VVWLPLTTPQD-SRAVASSVSKP
Ggallus  not conserved  ENSGALG00000007713  181------TSPEDLSEEQLDVVTGILIP
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
19247TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 822 / 822
position (AA) of stopcodon in wt / mu AA sequence 274 / 274
position of stopcodon in wt / mu cDNA 891 / 891
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 70 / 70
chromosome 17
strand 1
last intron/exon boundary 853
theoretical NMD boundary in CDS 733
length of CDS 822
coding sequence (CDS) position 580
cDNA position
(for ins/del: last normal base / first normal base)		 649
gDNA position
(for ins/del: last normal base / first normal base)		 6860
chromosomal position
(for ins/del: last normal base / first normal base)		 41931375
original gDNA sequence snippet ACTCCACCTCAGCAGAGGACACCAGTCCAGCTCTCAGCAGT
altered gDNA sequence snippet ACTCCACCTCAGCAGAGGACGCCAGTCCAGCTCTCAGCAGT
original cDNA sequence snippet ACTCCACCTCAGCAGAGGACACCAGTCCAGCTCTCAGCAGT
altered cDNA sequence snippet ACTCCACCTCAGCAGAGGACGCCAGTCCAGCTCTCAGCAGT
wildtype AA sequence MRLLVLLWGC LLLPGYEALE GPEEISGFEG DTVSLQCTYR EELRDHRKYW CRKGGILFSR
CSGTIYAEEE GQETMKGRVS IRDSRQELSL IVTLWNLTLQ DAGEYWCGVE KRGPDESLLI
SLFVFPASPG LYPAATTAKQ GKTGAEAPPL PGTSQYGHER TSQYTGTSPH PATSPPAGSS
RPPMQLDSTS AEDTSPALSS GSSKPRVSIP MVRILAPVLV LLSLLSAAGL IAFCSHLLLW
RKEAQQATET QRNEKFCLSR LNSLMFSLSL PWL*
mutated AA sequence MRLLVLLWGC LLLPGYEALE GPEEISGFEG DTVSLQCTYR EELRDHRKYW CRKGGILFSR
CSGTIYAEEE GQETMKGRVS IRDSRQELSL IVTLWNLTLQ DAGEYWCGVE KRGPDESLLI
SLFVFPASPG LYPAATTAKQ GKTGAEAPPL PGTSQYGHER TSQYTGTSPH PATSPPAGSS
RPPMQLDSTS AEDASPALSS GSSKPRVSIP MVRILAPVLV LLSLLSAAGL IAFCSHLLLW
RKEAQQATET QRNEKFCLSR LNSLMFSLSL PWL*
speed 0.82 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