Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999888 (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) chr8:7308386T>CN/A show variant in all transcripts   IGV
HGNC symbol SPAG11B
Ensembl transcript ID ENST00000398462
Genbank transcript ID NM_058201
UniProt peptide Q08648
alteration type single base exchange
alteration region CDS
DNA changes c.251A>G
cDNA.402A>G
g.12811A>G
AA changes H84R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 84
frameshift no
known variant Reference ID: rs1042797
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC14826311517941
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.7340.005
-0.2930.01
(flanking)-0.1340.086
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 increased12816wt: 0.2915 / mu: 0.2977 (marginal change - not scored)wt: GAAATACCATCTGCCATATGCAGCAAGGGATCTGCAGACTT
mu: GAAATACCATCTGCCGTATGCAGCAAGGGATCTGCAGACTT		 atgc|AGCA
distance from splice site 37
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      84DVPPGIRNTICHMQQGICRLFFCH
mutated  not conserved    84DVPPGIRNTICRMQQGICRLFFC
Ptroglodytes  not conserved  ENSPTRG00000019963  84DVPLGIRNTICRMQQGICRLFFC
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000059463  84EPEPNYQIVNCKKSEGQCQ-EYC
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 402 / 402
position (AA) of stopcodon in wt / mu AA sequence 134 / 134
position of stopcodon in wt / mu cDNA 553 / 553
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 8
strand -1
last intron/exon boundary 366
theoretical NMD boundary in CDS 164
length of CDS 402
coding sequence (CDS) position 251
cDNA position
(for ins/del: last normal base / first normal base)		 402
gDNA position
(for ins/del: last normal base / first normal base)		 12811
chromosomal position
(for ins/del: last normal base / first normal base)		 7308386
original gDNA sequence snippet AATTAGAAATACCATCTGCCATATGCAGCAAGGGATCTGCA
altered gDNA sequence snippet AATTAGAAATACCATCTGCCGTATGCAGCAAGGGATCTGCA
original cDNA sequence snippet AATTAGAAATACCATCTGCCATATGCAGCAAGGGATCTGCA
altered cDNA sequence snippet AATTAGAAATACCATCTGCCGTATGCAGCAAGGGATCTGCA
wildtype AA sequence MRQRLLPSVT SLLLVALLFP GSSQARHVNH SATEALGELR ERAPGQGTNG FQLLRHAVKR
DLLPPRTPPY QGDVPPGIRN TICHMQQGIC RLFFCHSGEK KRDICSDPWN RCCVSNTDEE
GKEKPEMDGR SGI*
mutated AA sequence MRQRLLPSVT SLLLVALLFP GSSQARHVNH SATEALGELR ERAPGQGTNG FQLLRHAVKR
DLLPPRTPPY QGDVPPGIRN TICRMQQGIC RLFFCHSGEK KRDICSDPWN RCCVSNTDEE
GKEKPEMDGR SGI*
speed 1.00 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