Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999705 (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 ENST00000317310
Genbank transcript ID NM_145273
UniProt peptide Q6UXG3
alteration type single base exchange
alteration region CDS
DNA changes c.682A>G
cDNA.723A>G
g.6860A>G
AA changes T228A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 228
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      228PMQLDSTSAEDTSPALSSGSSKPR
mutated  not conserved    228PMQLDSTSAEDASPALSSGSSKP
Ptroglodytes  not conserved  ENSPTRG00000009253  228PMQLDSTSAEDASPALSSGSSKP
Mmulatta  not conserved  ENSMMUG00000013263  143PKQLDSTSAEDASPALSSGSSKP
Fcatus  all identical  ENSFCAG00000009914  101STQPEPAWTEDTRLA-PSRTSLS
Mmusculus  not conserved  ENSMUSG00000017309  270VVWLPLTTPQD-SRAVASSVSKP
Ggallus  all identical  ENSGALG00000007713  163QQETAKQTARPTSPEDLSEEQLD
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
228228CARBOHYDO-linked (GalNAc...) (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 999 / 999
position (AA) of stopcodon in wt / mu AA sequence 333 / 333
position of stopcodon in wt / mu cDNA 1040 / 1040
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 42 / 42
chromosome 17
strand 1
last intron/exon boundary 927
theoretical NMD boundary in CDS 835
length of CDS 999
coding sequence (CDS) position 682
cDNA position
(for ins/del: last normal base / first normal base)		 723
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
SLFVFPGPCC PPSPSPTFQP LATTRLQPKA KAQQTQPPGL TSPGLYPAAT TAKQGKTGAE
APPLPGTSQY GHERTSQYTG TSPHPATSPP AGSSRPPMQL DSTSAEDTSP ALSSGSSKPR
VSIPMVRILA PVLVLLSLLS AAGLIAFCSH LLLWRKEAQQ ATETQRNEKF CLSRLTAEEK
EAPSQAPEGD VISMPPLHTS EEELGFSKFV SA*
mutated AA sequence MRLLVLLWGC LLLPGYEALE GPEEISGFEG DTVSLQCTYR EELRDHRKYW CRKGGILFSR
CSGTIYAEEE GQETMKGRVS IRDSRQELSL IVTLWNLTLQ DAGEYWCGVE KRGPDESLLI
SLFVFPGPCC PPSPSPTFQP LATTRLQPKA KAQQTQPPGL TSPGLYPAAT TAKQGKTGAE
APPLPGTSQY GHERTSQYTG TSPHPATSPP AGSSRPPMQL DSTSAEDASP ALSSGSSKPR
VSIPMVRILA PVLVLLSLLS AAGLIAFCSH LLLWRKEAQQ ATETQRNEKF CLSRLTAEEK
EAPSQAPEGD VISMPPLHTS EEELGFSKFV SA*
speed 0.77 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