Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999968328 (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
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:241827798T>CN/A show variant in all transcripts   IGV
HGNC symbol MAB21L4
Ensembl transcript ID ENST00000307486
Genbank transcript ID N/A
UniProt peptide Q08AI8
alteration type single base exchange
alteration region CDS
DNA changes c.715A>G
cDNA.814A>G
g.8509A>G
AA changes I239V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 239
frameshift no
known variant Reference ID: rs11899555
databasehomozygous (C/C)heterozygousallele carriers
1000G228736964
ExAC59250045596
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7790.001
-0.7730
(flanking)0.6630.045
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased8508wt: 0.81 / mu: 0.92wt: GGCCGCAGCCCCCCGCCGCGCATCGGCTCCGGGCTCAAGGC
mu: GGCCGCAGCCCCCCGCCGCGCGTCGGCTCCGGGCTCAAGGC		 gcgc|ATCG
Acc marginally increased8505wt: 0.4438 / mu: 0.4841 (marginal change - not scored)wt: CTGGGCCGCAGCCCCCCGCCGCGCATCGGCTCCGGGCTCAA
mu: CTGGGCCGCAGCCCCCCGCCGCGCGTCGGCTCCGGGCTCAA		 gccg|CGCA
distance from splice site 90
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      239ATHLGRSPPPRIGSGLKALLQLPA
mutated  all conserved    239ATHLGRSPPPRVGSGLKALLQLP
Ptroglodytes  all identical  ENSPTRG00000013114  388ATHLGRSPPPRIGSGLKALLQLP
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000010449  381VTHLGRGPPPRIGNGVKALLQLP
Mmusculus  all identical  ENSMUSG00000034159  393VTHLGPSRPPRIDNGVKALLQLP
Ggallus  not conserved  ENSGALG00000006044  391FGLPARADGVQADPALRALLHLP
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
317317CONFLICTL -> P (in Ref. 1; BAB15445).might get lost (downstream of altered splice site)
383383MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 897 / 897
position (AA) of stopcodon in wt / mu AA sequence 299 / 299
position of stopcodon in wt / mu cDNA 996 / 996
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 100 / 100
chromosome 2
strand -1
last intron/exon boundary 904
theoretical NMD boundary in CDS 754
length of CDS 897
coding sequence (CDS) position 715
cDNA position
(for ins/del: last normal base / first normal base)		 814
gDNA position
(for ins/del: last normal base / first normal base)		 8509
chromosomal position
(for ins/del: last normal base / first normal base)		 241827798
original gDNA sequence snippet GCCGCAGCCCCCCGCCGCGCATCGGCTCCGGGCTCAAGGCG
altered gDNA sequence snippet GCCGCAGCCCCCCGCCGCGCGTCGGCTCCGGGCTCAAGGCG
original cDNA sequence snippet GCCGCAGCCCCCCGCCGCGCATCGGCTCCGGGCTCAAGGCG
altered cDNA sequence snippet GCCGCAGCCCCCCGCCGCGCGTCGGCTCCGGGCTCAAGGCG
wildtype AA sequence MDTGVWGWGA AACRWGPAER AAGSLNAASL REEQLHLSLL VSSGWRTISF HVVPVVRRKL
GAPALEGVQQ MPGFPEGSLR RILSQGVDLV PASAQLWRTS TDYLLTRLLG ELGSLQGHRL
DSLSILDRVN HESWRDSGQT DGLTFGHLKM VLLWASVLFL APEDWAELQG AVYRLLVVLL
CCLATRKLPH FLHPQRNLLQ GSGLDLGAIY QRVEGFASQP EAALRIHATH LGRSPPPRIG
SGLKALLQLP ASDPTYWATA YFDVLLDKFQ VFNIQDKDRI SAMQSIFQKT RTLGGEES*
mutated AA sequence MDTGVWGWGA AACRWGPAER AAGSLNAASL REEQLHLSLL VSSGWRTISF HVVPVVRRKL
GAPALEGVQQ MPGFPEGSLR RILSQGVDLV PASAQLWRTS TDYLLTRLLG ELGSLQGHRL
DSLSILDRVN HESWRDSGQT DGLTFGHLKM VLLWASVLFL APEDWAELQG AVYRLLVVLL
CCLATRKLPH FLHPQRNLLQ GSGLDLGAIY QRVEGFASQP EAALRIHATH LGRSPPPRVG
SGLKALLQLP ASDPTYWATA YFDVLLDKFQ VFNIQDKDRI SAMQSIFQKT RTLGGEES*
speed 0.98 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