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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: ENST00000357377
MT speed 0 s - this script 2.507613 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
OR5B17polymorphism_automatic7.60502771868232e-14simple_aaeaffectedY308Csingle base exchangers4127353show file

Taster files

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 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999924 (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) chr11:58125620T>CN/A show variant in all transcripts   IGV
HGNC symbol OR5B17
Ensembl transcript ID ENST00000357377
Genbank transcript ID NM_001005489
UniProt peptide Q8NGF7
alteration type single base exchange
alteration region CDS
DNA changes c.923A>G
cDNA.923A>G
g.923A>G
AA changes Y308C Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 308
frameshift no
known variant Reference ID: rs4127353
databasehomozygous (C/C)heterozygousallele carriers
1000G13539542307
ExAC28548-243294219
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.850
-2.2930
(flanking)-1.5180
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 increased914wt: 0.7953 / mu: 0.8345 (marginal change - not scored)wt: TGAGAAGGCAAAATA
mu: TGAGAAGGCAAAATG		 AGAA|ggca
Donor gained9170.72mu: GAAGGCAAAATGTTC AGGC|aaaa
distance from splice site 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      308NAFMKVVEKAKYSLDSVF*
mutated  not conserved    308KVVEKAKCSLDSVF
Ptroglodytes  not conserved  ENSPTRG00000029950  308KVVEKAKCSLDSVF
Mmulatta  no homologue    
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 
291314TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 945 / 945
position (AA) of stopcodon in wt / mu AA sequence 315 / 315
position of stopcodon in wt / mu cDNA 945 / 945
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 1
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 945
coding sequence (CDS) position 923
cDNA position
(for ins/del: last normal base / first normal base)		 923
gDNA position
(for ins/del: last normal base / first normal base)		 923
chromosomal position
(for ins/del: last normal base / first normal base)		 58125620
original gDNA sequence snippet GGTTGTTGAGAAGGCAAAATATTCTCTAGATTCAGTCTTTT
altered gDNA sequence snippet GGTTGTTGAGAAGGCAAAATGTTCTCTAGATTCAGTCTTTT
original cDNA sequence snippet GGTTGTTGAGAAGGCAAAATATTCTCTAGATTCAGTCTTTT
altered cDNA sequence snippet GGTTGTTGAGAAGGCAAAATGTTCTCTAGATTCAGTCTTTT
wildtype AA sequence MENNTEVSEF ILLGLTNAPE LQVPLFIMFT LIYLITLTGN LGMIILILLD SHLHTPMYFF
LSNLSLAGIG YSSAVTPKVL TGLLIEDKAI SYSACAAQMF FCAVFATVEN YLLSSMAYDR
YAAVCNPLHY TTTMTTRVCA CLAIGCYVIG FLNASIQIGD TFRLSFCMSN VIHHFFCDKP
AVITLTCSEK HISELILVLI SSFNVFFALL VTLISYLFIL ITILKRHTGK GYQKPLSTCG
SHLIAIFLFY ITVIIMYIRP SSSHSMDTDK IASVFYTMII PMLSPIVYTL RNKDVKNAFM
KVVEKAKYSL DSVF*
mutated AA sequence MENNTEVSEF ILLGLTNAPE LQVPLFIMFT LIYLITLTGN LGMIILILLD SHLHTPMYFF
LSNLSLAGIG YSSAVTPKVL TGLLIEDKAI SYSACAAQMF FCAVFATVEN YLLSSMAYDR
YAAVCNPLHY TTTMTTRVCA CLAIGCYVIG FLNASIQIGD TFRLSFCMSN VIHHFFCDKP
AVITLTCSEK HISELILVLI SSFNVFFALL VTLISYLFIL ITILKRHTGK GYQKPLSTCG
SHLIAIFLFY ITVIIMYIRP SSSHSMDTDK IASVFYTMII PMLSPIVYTL RNKDVKNAFM
KVVEKAKCSL DSVF*
speed 0.44 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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