Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999994779275 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:62715548C>AN/A show variant in all transcripts   IGV
HGNC symbol LKAAEAR1
Ensembl transcript ID ENST00000308906
Genbank transcript ID NM_001007125
UniProt peptide Q8TD35
alteration type single base exchange
alteration region CDS
DNA changes c.25G>T
cDNA.165G>T
g.165G>T
AA changes G9W Score: 184 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 9
frameshift no
known variant Reference ID: rs4431000
databasehomozygous (A/A)heterozygousallele carriers
1000G62111851806
ExAC45713791836
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7470.017
0.3870.017
(flanking)-0.3340.012
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased167wt: 0.46 / mu: 0.73wt: GGCGGGCGCAAGGGC
mu: GGCTGGCGCAAGGGC		 CGGG|cgca
Donor increased168wt: 0.77 / mu: 0.88wt: GCGGGCGCAAGGGCC
mu: GCTGGCGCAAGGGCC		 GGGC|gcaa
distance from splice site 165
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      9 MPPPAKEGGRKGPRERSGKSA
mutated  not conserved    9 MPPPAKEGWRKGPRERSGKSAP
Ptroglodytes  all identical  ENSPTRG00000013772  9 PITAKDGGFKGPRERSGKSAP
Mmulatta  all identical  ENSMMUG00000018876  9 MPPPAKEGGRKEPRERSGKSAP
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000045794  5 GVKGARERDKNSAS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 723 / 723
position (AA) of stopcodon in wt / mu AA sequence 241 / 241
position of stopcodon in wt / mu cDNA 863 / 863
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 141 / 141
chromosome 20
strand -1
last intron/exon boundary 543
theoretical NMD boundary in CDS 352
length of CDS 723
coding sequence (CDS) position 25
cDNA position
(for ins/del: last normal base / first normal base)		 165
gDNA position
(for ins/del: last normal base / first normal base)		 165
chromosomal position
(for ins/del: last normal base / first normal base)		 62715548
original gDNA sequence snippet CGCCGCCAGCGAAGGAGGGCGGGCGCAAGGGCCCGCGGGAG
altered gDNA sequence snippet CGCCGCCAGCGAAGGAGGGCTGGCGCAAGGGCCCGCGGGAG
original cDNA sequence snippet CGCCGCCAGCGAAGGAGGGCGGGCGCAAGGGCCCGCGGGAG
altered cDNA sequence snippet CGCCGCCAGCGAAGGAGGGCTGGCGCAAGGGCCCGCGGGAG
wildtype AA sequence MPPPAKEGGR KGPRERSGKS APGTAQGEER AKGAPATEPP KPGWALTPQG LAAMLPAQRH
RHLLFGDLLE DVGAAASTFP CGSVEPGYRM PDPRPWTQSL ELPAERQNRL LGVLKAAEAR
GRVRALRLRY TRMRAEEIAL LIQRQKSARA AIRLELFLPP QLKPARIPDP LDRQEVQTSP
GRGGERGGAL PASAHAGPQP LSPAAEARGD HPGGERGWHH LPAVTATESV RRAPASHIKL
*
mutated AA sequence MPPPAKEGWR KGPRERSGKS APGTAQGEER AKGAPATEPP KPGWALTPQG LAAMLPAQRH
RHLLFGDLLE DVGAAASTFP CGSVEPGYRM PDPRPWTQSL ELPAERQNRL LGVLKAAEAR
GRVRALRLRY TRMRAEEIAL LIQRQKSARA AIRLELFLPP QLKPARIPDP LDRQEVQTSP
GRGGERGGAL PASAHAGPQP LSPAAEARGD HPGGERGWHH LPAVTATESV RRAPASHIKL
*
speed 1.07 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