Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000158009
MT speed 0 s - this script 2.47884 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
FNDC8polymorphism_automatic6.12658433984947e-07simple_aaeS36Psingle base exchangers1871892show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999387341566 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:33448818T>CN/A show variant in all transcripts   IGV
HGNC symbol FNDC8
Ensembl transcript ID ENST00000158009
Genbank transcript ID NM_017559
UniProt peptide Q8TC99
alteration type single base exchange
alteration region CDS
DNA changes c.106T>C
cDNA.221T>C
g.221T>C
AA changes S36P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 36
frameshift no
known variant Reference ID: rs1871892
databasehomozygous (C/C)heterozygousallele carriers
1000G17856382423
ExAC---
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1920.986
0.8170.986
(flanking)0.2610.989
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 104
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      36MNALDQLPKPFSNPKSMNRTVTTK
mutated  not conserved    36MNALDQLPKPFPNPKSMNRTVTT
Ptroglodytes  not conserved  ENSPTRG00000009011  36MNALDQLPKPFPNPKSMNRTVTT
Mmulatta  not conserved  ENSMMUG00000000744  36MNALDQLPKPFPNPKSMNRTVTT
Fcatus  not conserved  ENSFCAG00000000252  36LNALYQMSKPFPNPKSMNRTVTT
Mmusculus  not conserved  ENSMUSG00000018844  35INVIDQLPKPCPNPKFINRSMAT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 975 / 975
position (AA) of stopcodon in wt / mu AA sequence 325 / 325
position of stopcodon in wt / mu cDNA 1090 / 1090
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 116 / 116
chromosome 17
strand 1
last intron/exon boundary 938
theoretical NMD boundary in CDS 772
length of CDS 975
coding sequence (CDS) position 106
cDNA position
(for ins/del: last normal base / first normal base)		 221
gDNA position
(for ins/del: last normal base / first normal base)		 221
chromosomal position
(for ins/del: last normal base / first normal base)		 33448818
original gDNA sequence snippet ACCAACTGCCAAAACCCTTTTCAAACCCCAAGTCTATGAAC
altered gDNA sequence snippet ACCAACTGCCAAAACCCTTTCCAAACCCCAAGTCTATGAAC
original cDNA sequence snippet ACCAACTGCCAAAACCCTTTTCAAACCCCAAGTCTATGAAC
altered cDNA sequence snippet ACCAACTGCCAAAACCCTTTCCAAACCCCAAGTCTATGAAC
wildtype AA sequence MASEALHQVG DGEEAVLKKE NFNMMNALDQ LPKPFSNPKS MNRTVTTKGL PLASKGNLVN
FLEDDTINLL KPLPVEDSDC SSDETSISAF SSTLLNPIKL AVTQPNSSFF AGMLEGELNK
LSFSPMAKNA ENEDLALGPC PCPSKSQMAT RGLLDLDNPE LETETSSTHS ESSVVVDLPD
TPFIFEHTVN NSTAVISWTY ALGKQPVSFY QLLLQEVAKT QENELPEAKN RPWIFNKILG
TTVKLMELKP NTCYCLSVRA ANTAGVGKWC KPYKFATLAT DFSSFPENYP IQITVRRKEP
RQKIVSIGPE EMRRLEDLEY LFPC*
mutated AA sequence MASEALHQVG DGEEAVLKKE NFNMMNALDQ LPKPFPNPKS MNRTVTTKGL PLASKGNLVN
FLEDDTINLL KPLPVEDSDC SSDETSISAF SSTLLNPIKL AVTQPNSSFF AGMLEGELNK
LSFSPMAKNA ENEDLALGPC PCPSKSQMAT RGLLDLDNPE LETETSSTHS ESSVVVDLPD
TPFIFEHTVN NSTAVISWTY ALGKQPVSFY QLLLQEVAKT QENELPEAKN RPWIFNKILG
TTVKLMELKP NTCYCLSVRA ANTAGVGKWC KPYKFATLAT DFSSFPENYP IQITVRRKEP
RQKIVSIGPE EMRRLEDLEY LFPC*
speed 0.47 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
back to results table

Problems