Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.0649890762791252 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:133105120C>TN/A show variant in all transcripts   IGV
HGNC symbol SLC18B1
Ensembl transcript ID ENST00000367918
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.14582G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs6926101
databasehomozygous (T/T)heterozygousallele carriers
1000G201532733
ExAC138383799762
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8570.575
-2.1470.04
(flanking)1.1160.795
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 increased14574wt: 0.8879 / mu: 0.9641 (marginal change - not scored)wt: TGTTCTGGGATGCGT
mu: TGTTCTGGGATGCAT		 TTCT|ggga
distance from splice site 6243
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 67 / 67
chromosome 6
strand -1
last intron/exon boundary 401
theoretical NMD boundary in CDS 284
length of CDS 324
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 14582
chromosomal position
(for ins/del: last normal base / first normal base)		 133105120
original gDNA sequence snippet CTTTTATTGTTCTGGGATGCGTCGTTTTGCTGATGGTACCA
altered gDNA sequence snippet CTTTTATTGTTCTGGGATGCATCGTTTTGCTGATGGTACCA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MEALGDLEGP RAPGGDDPAG SAGETPGWLS REQVFVLISA ASVNLGSMMC YSILGPFFPK
EAEKKGASNT IIGMIFGFQF TSWICGTSIP GYGTVLCHLF TTIWSPK*
mutated AA sequence N/A
speed 0.74 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