Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999945 (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) chr6:135358567T>GN/A show variant in all transcripts   IGV
HGNC symbol HBS1L
Ensembl transcript ID ENST00000367822
Genbank transcript ID NM_001145207
UniProt peptide Q9Y450
alteration type single base exchange
alteration region CDS
DNA changes c.1028A>C
cDNA.1221A>C
g.65628A>C
AA changes E343A Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 343
frameshift no
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 598
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      343NMTVDNLNASKETEVGNVSLVEQS
mutated  not conserved    343NMTVDNLNASKATEVGNVSLVEQ
Ptroglodytes  no alignment  ENSPTRG00000018630  n/a
Mmulatta  no alignment  ENSMMUG00000004802  n/a
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000019977  n/a
Ggallus  no alignment  ENSGALG00000013962  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000036778  n/a
Dmelanogaster  no alignment  FBgn0042712  n/a
Celegans  no alignment  K07A12.4  n/a
Xtropicalis  no alignment  ENSXETG00000003726  n/a
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1899 / 1899
position (AA) of stopcodon in wt / mu AA sequence 633 / 633
position of stopcodon in wt / mu cDNA 2092 / 2092
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 194 / 194
chromosome 6
strand -1
last intron/exon boundary 624
theoretical NMD boundary in CDS 380
length of CDS 1899
coding sequence (CDS) position 1028
cDNA position
(for ins/del: last normal base / first normal base)		 1221
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 TAATTTAAATGCTAGTAAAGAAACTGAAGTTGGAAATGTTT
altered cDNA sequence snippet TAATTTAAATGCTAGTAAAGCAACTGAAGTTGGAAATGTTT
wildtype AA sequence MARHRNVRGY NYDEDFEDDD LYGQSVEDDY CISPSTAAQF IYSRRDKPSV EPVEEYDYED
LKESSNSVSN HQLSGFDQAR LYSCLDHMRE VLGDAVPDEI LIEAVLKNKF DVQKALSGVL
EQDRVQSLKD KNEATVSTGK IAKGVLFSSS EVSADNVQSS YPQSANHLDY SSKPFDFASS
VGKYGLSHNS SVPTHCLLHR KKKLDTRKSE KKLESCKLTK ELSLANLIHD MSRDSCESQP
SVRLSSTDSL ESLLSKNLDA DLLRPHASEC ISKDDSAFKE IPDLKTIIIK GTTPNNSLYI
QNNSLSDFQN IPVQDSLGSS NNPLYLTSSL ENMTVDNLNA SKETEVGNVS LVEQSAKNHT
FKNDNLQFSQ CESPSLTELF QEHKENNISQ CFTLSDLCNQ SSASFTDLSL GSFPLSQLAN
RCQSSPGISE LTGSLSSLAF HKASPTRDLE NLSLSELIAE TIDVDNSQIK KESFEVSLSE
VRSPGIDSNI DLSVLIKNPD FVPKPVVDPS IAPSSRTKVL SSKLGKNSNF AKDNKKNNKG
SLTRKPPFSL SWTKALAARP SAFASTLCLR YPLKSCKRRT LDLYKTFLYS RQVQDVKDKE
ISPLVAITPF DFKSASPDDI VKANQKKAFT RE*
mutated AA sequence MARHRNVRGY NYDEDFEDDD LYGQSVEDDY CISPSTAAQF IYSRRDKPSV EPVEEYDYED
LKESSNSVSN HQLSGFDQAR LYSCLDHMRE VLGDAVPDEI LIEAVLKNKF DVQKALSGVL
EQDRVQSLKD KNEATVSTGK IAKGVLFSSS EVSADNVQSS YPQSANHLDY SSKPFDFASS
VGKYGLSHNS SVPTHCLLHR KKKLDTRKSE KKLESCKLTK ELSLANLIHD MSRDSCESQP
SVRLSSTDSL ESLLSKNLDA DLLRPHASEC ISKDDSAFKE IPDLKTIIIK GTTPNNSLYI
QNNSLSDFQN IPVQDSLGSS NNPLYLTSSL ENMTVDNLNA SKATEVGNVS LVEQSAKNHT
FKNDNLQFSQ CESPSLTELF QEHKENNISQ CFTLSDLCNQ SSASFTDLSL GSFPLSQLAN
RCQSSPGISE LTGSLSSLAF HKASPTRDLE NLSLSELIAE TIDVDNSQIK KESFEVSLSE
VRSPGIDSNI DLSVLIKNPD FVPKPVVDPS IAPSSRTKVL SSKLGKNSNF AKDNKKNNKG
SLTRKPPFSL SWTKALAARP SAFASTLCLR YPLKSCKRRT LDLYKTFLYS RQVQDVKDKE
ISPLVAITPF DFKSASPDDI VKANQKKAFT RE*
speed 0.60 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