Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999220339274 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM011911)
  • known disease mutation: rs9145 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:73023915G>CN/A show variant in all transcripts   IGV
HGNC symbol BBS4
Ensembl transcript ID ENST00000542334
Genbank transcript ID N/A
UniProt peptide Q96RK4
alteration type single base exchange
alteration region CDS
DNA changes c.368G>C
cDNA.879G>C
g.45389G>C
AA changes R123P Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 123
frameshift no
known variant Reference ID: rs121434632
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs9145 (pathogenic for Bardet-Biedl syndrome 4|Bardet-Biedl syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM011911)

known disease mutation at this position, please check HGMD for details (HGMD ID CM011911)
known disease mutation at this position, please check HGMD for details (HGMD ID CM011911)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4451
4.6171
(flanking)0.4041
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 increased45390wt: 0.9983 / mu: 0.9984 (marginal change - not scored)wt: AAACGAGCCAACTAC
mu: AAACCAGCCAACTAC		 ACGA|gcca
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      123KKYVAAISCLKRANYLAPFDWKIL
mutated  not conserved    123LKPANYLAPFDWKI
Ptroglodytes  all identical  ENSPTRG00000007255  303LKRANYLAPFDWKI
Mmulatta  all identical  ENSMMUG00000013685  295LKRANYLAPFDWKI
Fcatus  no alignment  ENSFCAG00000012249  n/a
Mmusculus  all identical  ENSMUSG00000025235  295LKRANYLAPFDWKI
Ggallus  all identical  ENSGALG00000001798  273LKRANYLAPFDWKI
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000063522  295LKRANYLSPFDWKI
Dmelanogaster  all conserved  FBgn0033578  308LRKSVWLSPLNYNA
Celegans  all conserved  F58A4.14  326KKAAFINPLNYKI
Xtropicalis  all identical  ENSXETG00000005200  295KRALYLSPFDWRV
protein features
start (aa)end (aa)featuredetails 
101134REPEATTPR 2.lost
101337REGIONInteraction with PCM1.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1044 / 1044
position (AA) of stopcodon in wt / mu AA sequence 348 / 348
position of stopcodon in wt / mu cDNA 1555 / 1555
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 512 / 512
chromosome 15
strand 1
last intron/exon boundary 1446
theoretical NMD boundary in CDS 884
length of CDS 1044
coding sequence (CDS) position 368
cDNA position
(for ins/del: last normal base / first normal base)		 879
gDNA position
(for ins/del: last normal base / first normal base)		 45389
chromosomal position
(for ins/del: last normal base / first normal base)		 73023915
original gDNA sequence snippet GGCCATCAGCTGCCTGAAACGAGCCAACTACTTGGCACCCT
altered gDNA sequence snippet GGCCATCAGCTGCCTGAAACCAGCCAACTACTTGGCACCCT
original cDNA sequence snippet GGCCATCAGCTGCCTGAAACGAGCCAACTACTTGGCACCCT
altered cDNA sequence snippet GGCCATCAGCTGCCTGAAACCAGCCAACTACTTGGCACCCT
wildtype AA sequence MLGKIHLLEG DLDKAIEVYK KAVEFSPENT ELLTTLGLLY LQLGIYQKAF EHLGNALTYD
PTNYKAILAA GSMMQTHGDF DVALTKYRVV ACAVPESPPL WNNIGMCFFG KKKYVAAISC
LKRANYLAPF DWKILYNLGL VHLTMQQYAS AFHFLSAAIN FQPKMGELYM LLAVALTNLE
DIENAKRAYA EAVHLDKCNP LVNLNYAVLL YNQGEKKNAL AQYQEMEKKV SLLKDNSSLE
FDSEMVEMAQ KLGAALQVGE ALVWTKPVKD PKSKHQTTST SKPASFQQPL GSNQALGQAM
SSAAAYRTLP SGAGGTSQFT KPPSLPLEPE PAVESSPTET SEQIREK*
mutated AA sequence MLGKIHLLEG DLDKAIEVYK KAVEFSPENT ELLTTLGLLY LQLGIYQKAF EHLGNALTYD
PTNYKAILAA GSMMQTHGDF DVALTKYRVV ACAVPESPPL WNNIGMCFFG KKKYVAAISC
LKPANYLAPF DWKILYNLGL VHLTMQQYAS AFHFLSAAIN FQPKMGELYM LLAVALTNLE
DIENAKRAYA EAVHLDKCNP LVNLNYAVLL YNQGEKKNAL AQYQEMEKKV SLLKDNSSLE
FDSEMVEMAQ KLGAALQVGE ALVWTKPVKD PKSKHQTTST SKPASFQQPL GSNQALGQAM
SSAAAYRTLP SGAGGTSQFT KPPSLPLEPE PAVESSPTET SEQIREK*
speed 1.13 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