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
  • 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 ENST00000388934
Genbank transcript ID NM_001085437
UniProt peptide Q08AI8
alteration type single base exchange
alteration region CDS
DNA changes c.1162A>G
cDNA.1321A>G
g.8509A>G
AA changes I388V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 388
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      388ATHLGRSPPPRIGSGLKALLQLPA
mutated  all conserved    388ATHLGRSPPPRVGSGLKALLQLP
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 no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1344 / 1344
position (AA) of stopcodon in wt / mu AA sequence 448 / 448
position of stopcodon in wt / mu cDNA 1503 / 1503
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 160 / 160
chromosome 2
strand -1
last intron/exon boundary 1411
theoretical NMD boundary in CDS 1201
length of CDS 1344
coding sequence (CDS) position 1162
cDNA position
(for ins/del: last normal base / first normal base)		 1321
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 MPAPALPTSA MAVQVPLWHH YLQAIRSREA PRAQDFQRAE NVLLTVLERV HALDPRFIVD
YSRGLEAFQF ALRSSEDPMD MEVPLWVDAE ALLIEEPEAT QPEDGLELCH LGVPREGAGL
ERWTTEDTFT ASSEGDAKCR GHIVPSKVLC VLKDLLVAAI VHCKHHSLIA PGSLNAASLR
EEQLHLSLLV SSGWRTISFH VVPVVRRKLG APALEGVQQM PGFPEGSLRR ILSQGVDLVP
ASAQLWRTST DYLLTRLLGE LGSLQGHRLD SLSILDRVNH ESWRDSGQTD GLTFGHLKMV
LLWASVLFLA PEDWAELQGA VYRLLVVLLC CLATRKLPHF LHPQRNLLQG SGLDLGAIYQ
RVEGFASQPE AALRIHATHL GRSPPPRIGS GLKALLQLPA SDPTYWATAY FDVLLDKFQV
FNIQDKDRIS AMQSIFQKTR TLGGEES*
mutated AA sequence MPAPALPTSA MAVQVPLWHH YLQAIRSREA PRAQDFQRAE NVLLTVLERV HALDPRFIVD
YSRGLEAFQF ALRSSEDPMD MEVPLWVDAE ALLIEEPEAT QPEDGLELCH LGVPREGAGL
ERWTTEDTFT ASSEGDAKCR GHIVPSKVLC VLKDLLVAAI VHCKHHSLIA PGSLNAASLR
EEQLHLSLLV SSGWRTISFH VVPVVRRKLG APALEGVQQM PGFPEGSLRR ILSQGVDLVP
ASAQLWRTST DYLLTRLLGE LGSLQGHRLD SLSILDRVNH ESWRDSGQTD GLTFGHLKMV
LLWASVLFLA PEDWAELQGA VYRLLVVLLC CLATRKLPHF LHPQRNLLQG SGLDLGAIYQ
RVEGFASQPE AALRIHATHL GRSPPPRVGS GLKALLQLPA SDPTYWATAY FDVLLDKFQV
FNIQDKDRIS AMQSIFQKTR TLGGEES*
speed 0.82 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