Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.994240661679556 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM013533)
  • known disease mutation: rs195203 (pathogenic)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:183854522A>TN/A show variant in all transcripts   IGV
HGNC symbol EIF2B5
Ensembl transcript ID ENST00000432569
Genbank transcript ID N/A
UniProt peptide Q13144
alteration type single base exchange
alteration region CDS
DNA changes c.318A>T
cDNA.339A>T
g.1697A>T
AA changes L106F Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 106
frameshift no
known variant Reference ID: rs113994048
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC066

known disease mutation: rs195203 (pathogenic for Leukoencephalopathy with vanishing white matter|Inborn genetic diseases|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM013533)

known disease mutation at this position, please check HGMD for details (HGMD ID CM013533)
known disease mutation at this position, please check HGMD for details (HGMD ID CM013533)
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.110.983
-0.7530.294
(flanking)1.3380.562
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 108)
effectgDNA positionscoredetection sequence  exon-intron border
Acc gained17030.66mu: ATCAAAGAACATTTTCTGTAAGGCCCTGCAACTTTTCTTTC gtaa|GGCC
distance from splice site 123
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      106CCWKAAQIKEHLL*
mutated  not conserved    106CCWKAAQIKEHFL
Ptroglodytes  all identical  ENSPTRG00000015679  106CCWKAAQIKEHLL
Mmulatta  all identical  ENSMMUG00000006562  106CCWKAAQIKEHLL
Fcatus  all identical  ENSFCAG00000007787  106CCWKAAQIKEHLL
Mmusculus  all identical  ENSMUSG00000003235  102CCWKAAQIKEHL
Ggallus  all identical  ENSGALG00000008376  92CCWKSAEIKEHL
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000074995  88CWMSSKIKEHLL
Dmelanogaster  all conserved  FBgn0023512  72REHI
Celegans  no alignment  D2085.3  n/a
Xtropicalis  all identical  ENSXETG00000014293  102CCWMANDIKEHL
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 324 / 324
position (AA) of stopcodon in wt / mu AA sequence 108 / 108
position of stopcodon in wt / mu cDNA 345 / 345
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 22 / 22
chromosome 3
strand 1
last intron/exon boundary 217
theoretical NMD boundary in CDS 145
length of CDS 324
coding sequence (CDS) position 318
cDNA position
(for ins/del: last normal base / first normal base)		 339
gDNA position
(for ins/del: last normal base / first normal base)		 1697
chromosomal position
(for ins/del: last normal base / first normal base)		 183854522
original gDNA sequence snippet GCTCAAATCAAAGAACATTTACTGTAAGGCCCTGCAACTTT
altered gDNA sequence snippet GCTCAAATCAAAGAACATTTTCTGTAAGGCCCTGCAACTTT
original cDNA sequence snippet GCTCAAATCAAAGAACATTTACTGTAAGGCCCTGCAACTTT
altered cDNA sequence snippet GCTCAAATCAAAGAACATTTTCTGTAAGGCCCTGCAACTTT
wildtype AA sequence MAAPVVAPPG VVVSRANKRS GAGPGGSGGG GARGAEEEPP PPLQAVLVAD SFDRRFFPIS
KDQPRVLLPL ANVALIDYTL EFLTATGVQE TFVFCCWKAA QIKEHLL*
mutated AA sequence MAAPVVAPPG VVVSRANKRS GAGPGGSGGG GARGAEEEPP PPLQAVLVAD SFDRRFFPIS
KDQPRVLLPL ANVALIDYTL EFLTATGVQE TFVFCCWKAA QIKEHFL*
speed 0.47 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