Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999359 (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) chr19:7963949A>GN/A show variant in all transcripts   IGV
HGNC symbol LRRC8E
Ensembl transcript ID ENST00000306708
Genbank transcript ID NM_001268284
UniProt peptide Q6NSJ5
alteration type single base exchange
alteration region CDS
DNA changes c.542A>G
cDNA.643A>G
g.10560A>G
AA changes E181G Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 181
frameshift no
known variant Reference ID: rs2042919
databasehomozygous (G/G)heterozygousallele carriers
1000G1588501008
ExAC34882090024388
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0080.038
0.8850.049
(flanking)-0.3670.05
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 increased10552wt: 0.8268 / mu: 0.8935 (marginal change - not scored)wt: CCAGCAGCCACCGAA
mu: CCAGCAGCCACCGGA		 AGCA|gcca
distance from splice site 404
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      181SGENQKGPAATERAAATIVAMAGT
mutated  not conserved    181GRAAATIVAMAG
Ptroglodytes  not conserved  ENSPTRG00000010408  181GRAAATTVATAG
Mmulatta  not conserved  ENSMMUG00000005424  181GRASATIVATAG
Fcatus  not conserved  ENSFCAG00000014942  180GRATATVEASAG
Mmusculus  not conserved  ENSMUSG00000046589  181-RAMVTTVTTTG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000078283  192SEERM------------VLWRKN
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000022859  195SGESSQEKPSQERSIDRELSKPN
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2391 / 2391
position (AA) of stopcodon in wt / mu AA sequence 797 / 797
position of stopcodon in wt / mu cDNA 2492 / 2492
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 102 / 102
chromosome 19
strand 1
last intron/exon boundary 240
theoretical NMD boundary in CDS 88
length of CDS 2391
coding sequence (CDS) position 542
cDNA position
(for ins/del: last normal base / first normal base)		 643
gDNA position
(for ins/del: last normal base / first normal base)		 10560
chromosomal position
(for ins/del: last normal base / first normal base)		 7963949
original gDNA sequence snippet GAAGGGCCCAGCAGCCACCGAACGGGCTGCGGCCACCATAG
altered gDNA sequence snippet GAAGGGCCCAGCAGCCACCGGACGGGCTGCGGCCACCATAG
original cDNA sequence snippet GAAGGGCCCAGCAGCCACCGAACGGGCTGCGGCCACCATAG
altered cDNA sequence snippet GAAGGGCCCAGCAGCCACCGGACGGGCTGCGGCCACCATAG
wildtype AA sequence MIPVAEFKQF TEQQPAFKVL KPWWDVLAEY LTVAMLMIGV FGCTLQVTQD KIICLPNHEL
QENLSEAPCQ QLLPRGIPEQ IGALQEVKGL KNNLDLQQYS FINQLCYETA LHWYAKYFPY
LVVIHTLIFM VCTSFWFKFP GTSSKIEHFI SILGKCFDSP WTTRALSEVS GENQKGPAAT
ERAAATIVAM AGTGPGKAGE GEKEKVLAEP EKVVTEPPVV TLLDKKEGEQ AKALFEKVKK
FRMHVEEGDI LYTMYIRQTV LKVCKFLAIL VYNLVYVEKI SFLVACRVET SEVTGYASFC
CNHTKAHLFS KLAFCYISFV CIYGLTCIYT LYWLFHRPLK EYSFRSVREE TGMGDIPDVK
NDFAFMLHLI DQYDSLYSKR FAVFLSEVSE SRLKQLNLNH EWTPEKLRQK LQRNAAGRLE
LALCMLPGLP DTVFELSEVE SLRLEAICDI TFPPGLSQLV HLQELSLLHS PARLPFSLQV
FLRDHLKVMR VKCEELREVP LWVFGLRGLE ELHLEGLFPQ ELARAATLES LRELKQLKVL
SLRSNAGKVP ASVTDVAGHL QRLSLHNDGA RLVALNSLKK LAALRELELV ACGLERIPHA
VFSLGALQEL DLKDNHLRSI EEILSFQHCR KLVTLRLWHN QIAYVPEHVR KLRSLEQLYL
SYNKLETLPS QLGLCSGLRL LDVSHNGLHS LPPEVGLLQN LQHLALSYNA LEALPEELFF
CRKLRTLLLG DNQLSQLSPH VGALRALSRL ELKGNRLEAL PEELGNCGGL KKAGLLVEDT
LYQGLPAEVR DKMEEE*
mutated AA sequence MIPVAEFKQF TEQQPAFKVL KPWWDVLAEY LTVAMLMIGV FGCTLQVTQD KIICLPNHEL
QENLSEAPCQ QLLPRGIPEQ IGALQEVKGL KNNLDLQQYS FINQLCYETA LHWYAKYFPY
LVVIHTLIFM VCTSFWFKFP GTSSKIEHFI SILGKCFDSP WTTRALSEVS GENQKGPAAT
GRAAATIVAM AGTGPGKAGE GEKEKVLAEP EKVVTEPPVV TLLDKKEGEQ AKALFEKVKK
FRMHVEEGDI LYTMYIRQTV LKVCKFLAIL VYNLVYVEKI SFLVACRVET SEVTGYASFC
CNHTKAHLFS KLAFCYISFV CIYGLTCIYT LYWLFHRPLK EYSFRSVREE TGMGDIPDVK
NDFAFMLHLI DQYDSLYSKR FAVFLSEVSE SRLKQLNLNH EWTPEKLRQK LQRNAAGRLE
LALCMLPGLP DTVFELSEVE SLRLEAICDI TFPPGLSQLV HLQELSLLHS PARLPFSLQV
FLRDHLKVMR VKCEELREVP LWVFGLRGLE ELHLEGLFPQ ELARAATLES LRELKQLKVL
SLRSNAGKVP ASVTDVAGHL QRLSLHNDGA RLVALNSLKK LAALRELELV ACGLERIPHA
VFSLGALQEL DLKDNHLRSI EEILSFQHCR KLVTLRLWHN QIAYVPEHVR KLRSLEQLYL
SYNKLETLPS QLGLCSGLRL LDVSHNGLHS LPPEVGLLQN LQHLALSYNA LEALPEELFF
CRKLRTLLLG DNQLSQLSPH VGALRALSRL ELKGNRLEAL PEELGNCGGL KKAGLLVEDT
LYQGLPAEVR DKMEEE*
speed 0.45 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