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MutationTaster - study a chromosomal position

 MTQE documentation
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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000328698
MT speed 0 s - this script 3.407467 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
DEFB108Bpolymorphism_automatic9.99200722162641e-16simple_aaeQ53Rsingle base exchangers7120658show file

Taster files

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 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999999 (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) chr11:71548544A>GN/A show variant in all transcripts   IGV
HGNC symbol DEFB108B
Ensembl transcript ID ENST00000328698
Genbank transcript ID NM_001002035
UniProt peptide Q8NET1
alteration type single base exchange
alteration region CDS
DNA changes c.158A>G
cDNA.158A>G
g.4299A>G
AA changes Q53R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 53
frameshift no
known variant Reference ID: rs7120658
databasehomozygous (G/G)heterozygousallele carriers
1000G76111661927
ExAC19800-683312967
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.070
-0.7270
(flanking)0.020.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 65
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      53TEIHVGRCLNSQPCCLPLGHQPRI
mutated  all conserved    53TEIHVGRCLNSRPCCLPLG
Ptroglodytes  not conserved  ENSPTRG00000034221  53TEIHVRRCLNS-PCCLPLG
Mmulatta  all conserved  ENSMMUG00000017578  53TEIHVGRCLNSRPCCLPLG
Fcatus  no homologue    
Mmusculus  no homologue    
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 
2373PEPTIDEBeta-defensin 108B. /FTId=PRO_0000006981.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 222 / 222
position (AA) of stopcodon in wt / mu AA sequence 74 / 74
position of stopcodon in wt / mu cDNA 222 / 222
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 1 / 1
chromosome 11
strand 1
last intron/exon boundary 59
theoretical NMD boundary in CDS 8
length of CDS 222
coding sequence (CDS) position 158
cDNA position
(for ins/del: last normal base / first normal base)		 158
gDNA position
(for ins/del: last normal base / first normal base)		 4299
chromosomal position
(for ins/del: last normal base / first normal base)		 71548544
original gDNA sequence snippet TGGGAGATGTTTAAATAGCCAACCCTGCTGCCTGCCTCTGG
altered gDNA sequence snippet TGGGAGATGTTTAAATAGCCGACCCTGCTGCCTGCCTCTGG
original cDNA sequence snippet TGGGAGATGTTTAAATAGCCAACCCTGCTGCCTGCCTCTGG
altered cDNA sequence snippet TGGGAGATGTTTAAATAGCCGACCCTGCTGCCTGCCTCTGG
wildtype AA sequence MRIAVLLFAI FFFMSQVLPA RGKFKEICER PNGSCRDFCL ETEIHVGRCL NSQPCCLPLG
HQPRIESTTP KKD*
mutated AA sequence MRIAVLLFAI FFFMSQVLPA RGKFKEICER PNGSCRDFCL ETEIHVGRCL NSRPCCLPLG
HQPRIESTTP KKD*
speed 1.39 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
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Problems