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mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999997848 (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) chr22:36587223G>TN/A show variant in all transcripts   IGV
HGNC symbol APOL4
Ensembl transcript ID ENST00000352371
Genbank transcript ID N/A
UniProt peptide Q9BPW4
alteration type single base exchange
alteration region CDS
DNA changes c.953C>A
cDNA.1178C>A
g.13664C>A
AA changes A318E Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 318
frameshift no
known variant Reference ID: rs6000173
databasehomozygous (T/T)heterozygousallele carriers
1000G108710672154
ExAC17528-228915239
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4750.001
0.490.002
(flanking)0.4580.002
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 increased13661wt: 0.5388 / mu: 0.5702 (marginal change - not scored)wt: CAAGGGGGCAAAATC
mu: CAAGGGGGAAAAATC		 AGGG|ggca
Donor gained136600.84mu: ACAAGGGGGAAAAAT AAGG|ggga
Donor gained136590.47mu: CACAAGGGGGAAAAA CAAG|gggg
distance from splice site 101
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      318LVQDSLDLHKGAKSESAESLRQWA
mutated  not conserved    318LVQDSLDLHKGEKSESAESLRQW
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000057346  284LVKESKHLYEGSASESAEALRKL
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 1053 / 1053
position (AA) of stopcodon in wt / mu AA sequence 351 / 351
position of stopcodon in wt / mu cDNA 1278 / 1278
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 226 / 226
chromosome 22
strand -1
last intron/exon boundary 556
theoretical NMD boundary in CDS 280
length of CDS 1053
coding sequence (CDS) position 953
cDNA position
(for ins/del: last normal base / first normal base)		 1178
gDNA position
(for ins/del: last normal base / first normal base)		 13664
chromosomal position
(for ins/del: last normal base / first normal base)		 36587223
original gDNA sequence snippet ACTGGACTTGCACAAGGGGGCAAAATCCGAGTCTGCTGAGT
altered gDNA sequence snippet ACTGGACTTGCACAAGGGGGAAAAATCCGAGTCTGCTGAGT
original cDNA sequence snippet ACTGGACTTGCACAAGGGGGCAAAATCCGAGTCTGCTGAGT
altered cDNA sequence snippet ACTGGACTTGCACAAGGGGGAAAAATCCGAGTCTGCTGAGT
wildtype AA sequence MEGAALLKIF VVCIWVQQNH PGWTVAGQFQ EKKRFTEEVI EYFQKKVSPV HLKILLTSDE
AWKRFVRVAE LPREEADALY EALKNLTPYV AIEDKDMQQK EQQFREWFLK FPQIRWKIQE
SIERLRVIAN EIEKVHRGCV IANVVSGSTG ILSVIGVMLA PFTAGLSLSI TAAGVGLGIA
SATAGIASSI VENTYTRSAE LTASRLTATS TDQLEALRDI LRDITPNVLS FALDFDEATK
MIANDVHTLR RSKATVGRPL IAWRYVPINV VETLRTRGAP TRIVRKVARN LGKATSGVLV
VLDVVNLVQD SLDLHKGAKS ESAESLRQWA QELEENLNEL THIHQSLKAG *
mutated AA sequence MEGAALLKIF VVCIWVQQNH PGWTVAGQFQ EKKRFTEEVI EYFQKKVSPV HLKILLTSDE
AWKRFVRVAE LPREEADALY EALKNLTPYV AIEDKDMQQK EQQFREWFLK FPQIRWKIQE
SIERLRVIAN EIEKVHRGCV IANVVSGSTG ILSVIGVMLA PFTAGLSLSI TAAGVGLGIA
SATAGIASSI VENTYTRSAE LTASRLTATS TDQLEALRDI LRDITPNVLS FALDFDEATK
MIANDVHTLR RSKATVGRPL IAWRYVPINV VETLRTRGAP TRIVRKVARN LGKATSGVLV
VLDVVNLVQD SLDLHKGEKS ESAESLRQWA QELEENLNEL THIHQSLKAG *
speed 0.73 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