Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.872405800568731 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:73552185G>AN/A show variant in all transcripts   IGV
HGNC symbol LLGL2
Ensembl transcript ID ENST00000578363
Genbank transcript ID N/A
UniProt peptide Q6P1M3
alteration type single base exchange
alteration region CDS
DNA changes c.134G>A
cDNA.275G>A
g.31025G>A
AA changes R45H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 45
frameshift no
known variant Reference ID: rs1671036
databasehomozygous (A/A)heterozygousallele carriers
1000G50910311540
ExAC1624926916518
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.9651
1.170.995
(flanking)-0.0240.975
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased31028wt: 0.2517 / mu: 0.3300 (marginal change - not scored)wt: CTACAGCCCGTCCCTGCGCATCCTGGCCATCGGCACCCGTT
mu: CTACAGCCCGTCCCTGCACATCCTGGCCATCGGCACCCGTT		 gcat|CCTG
Acc marginally increased31016wt: 0.6035 / mu: 0.6253 (marginal change - not scored)wt: CAGCGCCCTCGGCTACAGCCCGTCCCTGCGCATCCTGGCCA
mu: CAGCGCCCTCGGCTACAGCCCGTCCCTGCACATCCTGGCCA		 gccc|GTCC
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      45QPSALGYSPSLRILAIGTRSGAIK
mutated  not conserved    45QPSALGYSPSLHILAIGTRSGAI
Ptroglodytes  all identical  ENSPTRG00000009647  45QPSALGYSPSLRILAIGTRSGAI
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000020782  45QPSALGYSPSLRILAIGTRSGAV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000023920  45QPSALGFSPSLELLAIGTRSGAI
Dmelanogaster  all conserved  FBgn0002121  45KPSALAYDPVLKLMAIGTQTGAL
Celegans  not conserved  F56F10.4  48DVVAFDYHNGC--VVIGSKNGEV
Xtropicalis  not conserved  ENSXETG00000012529  21QPSALGYSDCLSLMAIGTRSGAL
protein features
start (aa)end (aa)featuredetails 
3669REPEATWD 1.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1071 / 1071
position (AA) of stopcodon in wt / mu AA sequence 357 / 357
position of stopcodon in wt / mu cDNA 1212 / 1212
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 142 / 142
chromosome 17
strand 1
last intron/exon boundary 1023
theoretical NMD boundary in CDS 831
length of CDS 1071
coding sequence (CDS) position 134
cDNA position
(for ins/del: last normal base / first normal base)		 275
gDNA position
(for ins/del: last normal base / first normal base)		 31025
chromosomal position
(for ins/del: last normal base / first normal base)		 73552185
original gDNA sequence snippet CGGCTACAGCCCGTCCCTGCGCATCCTGGCCATCGGCACCC
altered gDNA sequence snippet CGGCTACAGCCCGTCCCTGCACATCCTGGCCATCGGCACCC
original cDNA sequence snippet CGGCTACAGCCCGTCCCTGCGCATCCTGGCCATCGGCACCC
altered cDNA sequence snippet CGGCTACAGCCCGTCCCTGCACATCCTGGCCATCGGCACCC
wildtype AA sequence MRRFLRPGHD PVRERLKRDL FQFNKTVEHG FPHQPSALGY SPSLRILAIG TRSGAIKLYG
APGVEFMGLH QENNAVTQIH LLPGQCQLVT LLDDNSLHLW SLKVKGGASE LQEDESFTLR
GPPGAAPSAT QITVVLPHSS CELLYLGTES GNVFVVQLPA FRALEDRTIS SDAVLQRLPE
EARHRRVFEM VEALQEHPRD PNQILIGYSR GLVVIWDLQG SRVLYHFLSS QQLENIWWQR
DGRLLVSCHS DGSYCQWPVS SEAQQPEPLR SLVPYGPFPC KAITRILWLT TRQGLPFTIF
QGGMPRASYG DRHCISVIHD GQQTAFDFTS RVIGFTVLTE ADPAASRRAS GVGAQG*
mutated AA sequence MRRFLRPGHD PVRERLKRDL FQFNKTVEHG FPHQPSALGY SPSLHILAIG TRSGAIKLYG
APGVEFMGLH QENNAVTQIH LLPGQCQLVT LLDDNSLHLW SLKVKGGASE LQEDESFTLR
GPPGAAPSAT QITVVLPHSS CELLYLGTES GNVFVVQLPA FRALEDRTIS SDAVLQRLPE
EARHRRVFEM VEALQEHPRD PNQILIGYSR GLVVIWDLQG SRVLYHFLSS QQLENIWWQR
DGRLLVSCHS DGSYCQWPVS SEAQQPEPLR SLVPYGPFPC KAITRILWLT TRQGLPFTIF
QGGMPRASYG DRHCISVIHD GQQTAFDFTS RVIGFTVLTE ADPAASRRAS GVGAQG*
speed 1.24 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