Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999117872228 (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) chr13:36828237T>CN/A show variant in all transcripts   IGV
HGNC symbol SOHLH2
Ensembl transcript ID ENST00000554962
Genbank transcript ID N/A
UniProt peptide Q9NX45
alteration type single base exchange
alteration region CDS
DNA changes c.59A>G
cDNA.361A>G
g.43743A>G
AA changes K20R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 20
frameshift no
known variant Reference ID: rs9546897
databasehomozygous (C/C)heterozygousallele carriers
1000G37811261504
ExAC219353047497
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0480.998
0.3320.995
(flanking)0.5060.995
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 increased43740wt: 0.9864 / mu: 0.9890 (marginal change - not scored)wt: AGAAAAGAAGACTCT
mu: AGAAAAGAGGACTCT		 AAAA|gaag
Donor gained437370.86mu: AGAAGAAAAGAGGAC AAGA|aaag
distance from splice site 44
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      20NTLLKQLEEEKKTLESQVKYYALK
mutated  all conserved    20NTLLKQLEEEKRTLESQVKYYAL
Ptroglodytes  all conserved  ENSPTRG00000005779  20NTLLKQLEEEKRTLESQVKYYAL
Mmulatta  no alignment  ENSMMUG00000001172  n/a
Fcatus  no alignment  ENSFCAG00000004161  n/a
Mmusculus  no alignment  ENSMUSG00000027794  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
201252DOMAINbHLH.might get lost (downstream of altered splice site)
211211CONFLICTK -> N (in Ref. 1; BAA91175 and 5; AAW78547).might get lost (downstream of altered splice site)
312312CONFLICTT -> A (in Ref. 1; BAA91175 and 5; AAW78547).might get lost (downstream of altered splice site)
403403CONFLICTH -> Y (in Ref. 1; BAA91175 and 5; AAW78547).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1509 / 1509
position (AA) of stopcodon in wt / mu AA sequence 503 / 503
position of stopcodon in wt / mu cDNA 1811 / 1811
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 303 / 303
chromosome 13
strand -1
last intron/exon boundary 1791
theoretical NMD boundary in CDS 1438
length of CDS 1509
coding sequence (CDS) position 59
cDNA position
(for ins/del: last normal base / first normal base)		 361
gDNA position
(for ins/del: last normal base / first normal base)		 43743
chromosomal position
(for ins/del: last normal base / first normal base)		 36828237
original gDNA sequence snippet ACAGCTAGAAGAAGAAAAGAAGACTCTTGAAAGTCAAGTGA
altered gDNA sequence snippet ACAGCTAGAAGAAGAAAAGAGGACTCTTGAAAGTCAAGTGA
original cDNA sequence snippet ACAGCTAGAAGAAGAAAAGAAGACTCTTGAAAGTCAAGTGA
altered cDNA sequence snippet ACAGCTAGAAGAAGAAAAGAGGACTCTTGAAAGTCAAGTGA
wildtype AA sequence METLQESLNT LLKQLEEEKK TLESQVKYYA LKLEQESKAY QKINNERRTY LAEMSQGSGL
HQVSKRQQVD QLPRMQENLV KTLLLKEELD PLKAKIDILL VGDVTVGYLA DTVQKLFANI
AEVTITISDT KEAAALLDDC IFNMVLLKVP SSLSAEELEA IKLIRFGKKK NTHSLFVFII
PENFKGCISG HGMDIALTEP LTMEKMSNVV KYWTTCPSNT VKTENATGPE ELGLPLQRSY
SEHLGYFPTD LFACSESLRN GNGLELNASL SEFEKNKKIS LLHSSKEKLR RERIKYCCEQ
LRTLLPYVKG RKNDAASVLE ATVDYVKYIR EKISPAVMAQ ITEALQSNMR FCKKQQTPIE
LSLPGTVMAQ RENSVMSTYS PERGLQFLTN TCWNGCSTPD AESSLDEAVR VPSSSASENA
IGDPYKTHIS SAALSLNSLH TVRYYSKVTP SYDATAVTNQ NISIHLPSAM PPVSKLLPRH
CTSGLGQTCT THPNCLQQFW AY*
mutated AA sequence METLQESLNT LLKQLEEEKR TLESQVKYYA LKLEQESKAY QKINNERRTY LAEMSQGSGL
HQVSKRQQVD QLPRMQENLV KTLLLKEELD PLKAKIDILL VGDVTVGYLA DTVQKLFANI
AEVTITISDT KEAAALLDDC IFNMVLLKVP SSLSAEELEA IKLIRFGKKK NTHSLFVFII
PENFKGCISG HGMDIALTEP LTMEKMSNVV KYWTTCPSNT VKTENATGPE ELGLPLQRSY
SEHLGYFPTD LFACSESLRN GNGLELNASL SEFEKNKKIS LLHSSKEKLR RERIKYCCEQ
LRTLLPYVKG RKNDAASVLE ATVDYVKYIR EKISPAVMAQ ITEALQSNMR FCKKQQTPIE
LSLPGTVMAQ RENSVMSTYS PERGLQFLTN TCWNGCSTPD AESSLDEAVR VPSSSASENA
IGDPYKTHIS SAALSLNSLH TVRYYSKVTP SYDATAVTNQ NISIHLPSAM PPVSKLLPRH
CTSGLGQTCT THPNCLQQFW AY*
speed 0.77 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