Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.984924341426471 (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) chr21:40670460G>CN/A show variant in all transcripts   IGV
HGNC symbol BRWD1
Ensembl transcript ID ENST00000341322
Genbank transcript ID NM_001007246
UniProt peptide Q9NSI6
alteration type single base exchange
alteration region CDS
DNA changes c.247C>G
cDNA.398C>G
g.23026C>G
AA changes Q83E Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 83
frameshift no
known variant Reference ID: rs2056844
databasehomozygous (C/C)heterozygousallele carriers
1000G59512061801
ExAC14487379318280
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5571
1.1631
(flanking)0.4851
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased23019wt: 0.9619 / mu: 0.9716 (marginal change - not scored)wt: GCTCCTGATCATCTTTTGCAAATCTGCCAGCGCATCGGTCC
mu: GCTCCTGATCATCTTTTGCAAATCTGCGAGCGCATCGGTCC		 gcaa|ATCT
distance from splice site 49
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      83HVAPDHLLQICQRIGPMLDKEIPP
mutated  all conserved    83HVAPDHLLQICERIGPMLDKEIP
Ptroglodytes  all identical  ENSPTRG00000013912  83HVAPDHLLQICQRIGPMLDKEIP
Mmulatta  all identical  ENSMMUG00000008504  83HVAPDHLLQICQRIGPMLDKEIP
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000022914  83HVAPDHLLQICQRIGPMLDKEVP
Ggallus  all conserved  ENSGALG00000016065  86HVAPDHLLQICKRIGPILDKEIP
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000074747  n/a
Dmelanogaster  not conserved  FBgn0011785  81GANHLLEICSRLGPLVDRELP
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 363 / 363
position (AA) of stopcodon in wt / mu AA sequence 121 / 121
position of stopcodon in wt / mu cDNA 514 / 514
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 152 / 152
chromosome 21
strand -1
last intron/exon boundary 350
theoretical NMD boundary in CDS 148
length of CDS 363
coding sequence (CDS) position 247
cDNA position
(for ins/del: last normal base / first normal base)		 398
gDNA position
(for ins/del: last normal base / first normal base)		 23026
chromosomal position
(for ins/del: last normal base / first normal base)		 40670460
original gDNA sequence snippet ATCATCTTTTGCAAATCTGCCAGCGCATCGGTCCTATGTTG
altered gDNA sequence snippet ATCATCTTTTGCAAATCTGCGAGCGCATCGGTCCTATGTTG
original cDNA sequence snippet ATCATCTTTTGCAAATCTGCCAGCGCATCGGTCCTATGTTG
altered cDNA sequence snippet ATCATCTTTTGCAAATCTGCGAGCGCATCGGTCCTATGTTG
wildtype AA sequence MAEPSSARRP VPLIESELYF LIARYLSAGP CRRAAQVLVQ ELEQYQLLPK RLDWEGNEHN
RSYEELVLSN KHVAPDHLLQ ICQRIGPMLD KEIPPSISRV TSLLGAGRQS LLRTAKGTLI
*
mutated AA sequence MAEPSSARRP VPLIESELYF LIARYLSAGP CRRAAQVLVQ ELEQYQLLPK RLDWEGNEHN
RSYEELVLSN KHVAPDHLLQ ICERIGPMLD KEIPPSISRV TSLLGAGRQS LLRTAKGTLI
*
speed 0.60 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