Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999997204771 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM010002)
  • known disease mutation: rs4980 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:44051210C>TN/A show variant in all transcripts   IGV
HGNC symbol ABCG5
Ensembl transcript ID ENST00000260645
Genbank transcript ID NM_022436
UniProt peptide Q9H222
alteration type single base exchange
alteration region CDS
DNA changes c.1166G>A
cDNA.1306G>A
g.14795G>A
AA changes R389H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 389
frameshift no
known variant Reference ID: rs119480069
databasehomozygous (T/T)heterozygousallele carriers
1000G011
ExAC01818

known disease mutation: rs4980 (pathogenic for Sitosterolemia|Sitosterolemia 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM010002)

known disease mutation at this position, please check HGMD for details (HGMD ID CM010002)
known disease mutation at this position, please check HGMD for details (HGMD ID CM010002)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0470.988
5.7751
(flanking)5.7751
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 increased14806wt: 0.8011 / mu: 0.8141 (marginal change - not scored)wt: TGATTACGCGTCTCCTTCAGAATCTGATCATGGGTTTGTTC
mu: TGATTACGCATCTCCTTCAGAATCTGATCATGGGTTTGTTC		 caga|ATCT
distance from splice site 48
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      389NLVRNKLAVITRLLQNLIMGLFLL
mutated  not conserved    389NLVRNKLAVITHLLQNLIMGLFL
Ptroglodytes  not conserved  ENSPTRG00000011878  389HPEVARFGYFSAALLAPHLIGEFL
Mmulatta  all identical  ENSMMUG00000008080  389NLVRNKLAVMMRLLQNLTMGLFL
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000040505  390NLMRNKQAVIMRLVQNLIMGLFL
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000009436  387NLSRDRMGVLMRLSQNLIYGLFV
Drerio  all identical  ENSDARG00000063078  393NVSRDRMGILMRLSQ
Dmelanogaster  all conserved  FBgn0051121  622YKQPGSLLTWISKLIAAAVLSLFI
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000009290  391NLSRDKIGIVMRLSQNLIFGLFI
protein features
start (aa)end (aa)featuredetails 
384404TRANSMEMHelical; Name=1; (Potential).lost
388645DOMAINABC transmembrane type-2.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1956 / 1956
position (AA) of stopcodon in wt / mu AA sequence 652 / 652
position of stopcodon in wt / mu cDNA 2096 / 2096
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 141 / 141
chromosome 2
strand -1
last intron/exon boundary 1903
theoretical NMD boundary in CDS 1712
length of CDS 1956
coding sequence (CDS) position 1166
cDNA position
(for ins/del: last normal base / first normal base)		 1306
gDNA position
(for ins/del: last normal base / first normal base)		 14795
chromosomal position
(for ins/del: last normal base / first normal base)		 44051210
original gDNA sequence snippet TAAGCTGGCAGTGATTACGCGTCTCCTTCAGAATCTGATCA
altered gDNA sequence snippet TAAGCTGGCAGTGATTACGCATCTCCTTCAGAATCTGATCA
original cDNA sequence snippet TAAGCTGGCAGTGATTACGCGTCTCCTTCAGAATCTGATCA
altered cDNA sequence snippet TAAGCTGGCAGTGATTACGCATCTCCTTCAGAATCTGATCA
wildtype AA sequence MGDLSSLTPG GSMGLQVNRG SQSSLEGAPA TAPEPHSLGI LHASYSVSHR VRPWWDITSC
RQQWTRQILK DVSLYVESGQ IMCILGSSGS GKTTLLDAMS GRLGRAGTFL GEVYVNGRAL
RREQFQDCFS YVLQSDTLLS SLTVRETLHY TALLAIRRGN PGSFQKKVEA VMAELSLSHV
ADRLIGNYSL GGISTGERRR VSIAAQLLQD PKVMLFDEPT TGLDCMTANQ IVVLLVELAR
RNRIVVLTIH QPRSELFQLF DKIAILSFGE LIFCGTPAEM LDFFNDCGYP CPEHSNPFDF
YMDLTSVDTQ SKEREIETSK RVQMIESAYK KSAICHKTLK NIERMKHLKT LPMVPFKTKD
SPGVFSKLGV LLRRVTRNLV RNKLAVITRL LQNLIMGLFL LFFVLRVRSN VLKGAIQDRV
GLLYQFVGAT PYTGMLNAVN LFPVLRAVSD QESQDGLYQK WQMMLAYALH VLPFSVVATM
IFSSVCYWTL GLHPEVARFG YFSAALLAPH LIGEFLTLVL LGIVQNPNIV NSVVALLSIA
GVLVGSGFLR NIQEMPIPFK IISYFTFQKY CSEILVVNEF YGLNFTCGSS NVSVTTNPMC
AFTQGIQFIE KTCPGATSRF TMNFLILYSF IPALVILGIV VFKIRDHLIS R*
mutated AA sequence MGDLSSLTPG GSMGLQVNRG SQSSLEGAPA TAPEPHSLGI LHASYSVSHR VRPWWDITSC
RQQWTRQILK DVSLYVESGQ IMCILGSSGS GKTTLLDAMS GRLGRAGTFL GEVYVNGRAL
RREQFQDCFS YVLQSDTLLS SLTVRETLHY TALLAIRRGN PGSFQKKVEA VMAELSLSHV
ADRLIGNYSL GGISTGERRR VSIAAQLLQD PKVMLFDEPT TGLDCMTANQ IVVLLVELAR
RNRIVVLTIH QPRSELFQLF DKIAILSFGE LIFCGTPAEM LDFFNDCGYP CPEHSNPFDF
YMDLTSVDTQ SKEREIETSK RVQMIESAYK KSAICHKTLK NIERMKHLKT LPMVPFKTKD
SPGVFSKLGV LLRRVTRNLV RNKLAVITHL LQNLIMGLFL LFFVLRVRSN VLKGAIQDRV
GLLYQFVGAT PYTGMLNAVN LFPVLRAVSD QESQDGLYQK WQMMLAYALH VLPFSVVATM
IFSSVCYWTL GLHPEVARFG YFSAALLAPH LIGEFLTLVL LGIVQNPNIV NSVVALLSIA
GVLVGSGFLR NIQEMPIPFK IISYFTFQKY CSEILVVNEF YGLNFTCGSS NVSVTTNPMC
AFTQGIQFIE KTCPGATSRF TMNFLILYSF IPALVILGIV VFKIRDHLIS R*
speed 0.95 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