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 ENST00000415177
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 4572
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 129 / 129
chromosome 6
strand -1
last intron/exon boundary 1977
theoretical NMD boundary in CDS 1798
length of CDS 1860
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 HQLSGFDQGK PVDSQTSRSE SEIVPKVAKM TVSGKKQTMG FEVPGVSSEE
NGHSFHTPQK GPPIEDAIAS SDVLETASKS ANPPHTIQAS EEQSSTPAPV KKSGKLRQQI
DVKAELEKRQ GGKQLLNLVV IGHVDAGKST LMGHMLYLLG NINKRTMHKY EQESKKAGKA
SFAYAWVLDE TGEERERGVT MDVGMTKFET TTKVITLMDA PGHKDFIPNM ITGAAQADVA
VLVVDASRGE FEAGFETGGQ TREHGLLVRS LGVTQLAVAV NKMDQVNWQQ ERFQEITGKL
GHFLKQAGFK ESDVGFIPTS GLSGENLITR SQSSELTKWY KGLCLLEQID SFKPPQRSID
KPFRLCVSDV FKDQGSGFCI TGKIEAGYIQ TGDRLLAMPP NETCTVKGIT LHDEPVDWAA
AGDHVSLTLV GMDIIKINVG CIFCGPKVPI KACTRFRARI LIFNIEIPIT KGFPVLLHYQ
TVSEPAVIKR LISVLNKSTG EVTKKKPKFL TKGQNALVEL QTQRPIALEL YKDFKELGRF
MLRYGGSTIA AGVVTEIKE*
mutated AA sequence N/A
speed 0.96 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