Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999783130004 (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) chr6:135358567T>GN/A show variant in all transcripts   IGV
HGNC symbol HBS1L
Ensembl transcript ID ENST00000367820
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.65628A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs7742542
databasehomozygous (G/G)heterozygousallele carriers
1000G56712041771
ExAC281753158132
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6570.058
0.0860.018
(flanking)0.1230.013
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 increased65626wt: 0.9476 / mu: 0.9505 (marginal change - not scored)wt: AGTAAAGAAACTGAA
mu: AGTAAAGCAACTGAA		 TAAA|gaaa
distance from splice site 635
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 110 / 110
chromosome 6
strand -1
last intron/exon boundary 540
theoretical NMD boundary in CDS 380
length of CDS 444
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)		 65628
chromosomal position
(for ins/del: last normal base / first normal base)		 135358567
original gDNA sequence snippet TAATTTAAATGCTAGTAAAGAAACTGAAGTTGGAAATGTTT
altered gDNA sequence snippet TAATTTAAATGCTAGTAAAGCAACTGAAGTTGGAAATGTTT
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MARHRNVRGY NYDEDFEDDD LYGQSVEDDY CISPSTAAQF IYSRRDKPSV EPVEEYDYED
LKESSNSVSN HQLSGFDQAR LYSCLDHMRE VLGDAVPDEI LIEAVLKNKF DVQKALSGVL
EQDRVQSLKD KNEATVSTGK IAKGPCC*
mutated AA sequence N/A
speed 1.01 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