Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999950784102 (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 ENST00000405322
Genbank transcript ID N/A
UniProt peptide Q9H222
alteration type single base exchange
alteration region CDS
DNA changes c.653G>A
cDNA.1550G>A
g.14795G>A
AA changes R218H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 218
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      218NLVRNKLAVITRLLQNLIMGLFLL
mutated  not conserved    218NLVRNKLAVITHLLQNLIMGLFL
Ptroglodytes  not conserved  ENSPTRG00000011878  248---RNRIVVLTIHQPRSELFQLFD
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  393NVSRDRMGILMRLSQNLIYGLFI
Dmelanogaster  all conserved  FBgn0051121  622YKQPGSLLTWISKLIAAAVLSLFI
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000009290  391NLSRDKIGIVMRLSQNLIFGLFI
protein features
start (aa)end (aa)featuredetails 
1383TOPO_DOMCytoplasmic (Potential).lost
52293DOMAINABC transporter.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1443 / 1443
position (AA) of stopcodon in wt / mu AA sequence 481 / 481
position of stopcodon in wt / mu cDNA 2340 / 2340
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 898 / 898
chromosome 2
strand -1
last intron/exon boundary 2147
theoretical NMD boundary in CDS 1199
length of CDS 1443
coding sequence (CDS) position 653
cDNA position
(for ins/del: last normal base / first normal base)		 1550
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 MCILGSSGSG KTTLLDAMSG RLGRAGTFLG EVYVNGRALR REQFQDCFSY VLQSDTLLSS
LTVRETLHYT ALLAIRRGNP GSFQKKVEAV MAELSLSHVA DRLIGNYSLG GISTGERRRV
SIAAQLLQDP MDLTSVDTQS KEREIETSKR VQMIESAYKK SAICHKTLKN IERMKHLKTL
PMVPFKTKDS PGVFSKLGVL LRRVTRNLVR NKLAVITRLL QNLIMGLFLL FFVLRVRSNV
LKGAIQDRVG LLYQFVGATP YTGMLNAVNL FPVLRAVSDQ ESQDGLYQKW QMMLAYALHV
LPFSVVATMI FSSVCYWTLG LHPEVARFGY FSAALLAPHL IGEFLTLVLL GIVQNPNIVN
SVVALLSIAG VLVGSGFLRN IQEMPIPFKI ISYFTFQKYC SEILVVNEFY GLNFTCGSSN
VSVTTNPMCA FTQGIQFIEK TCPGATSRFT MNFLILYSFI PALVILGIVV FKIRDHLISR
*
mutated AA sequence MCILGSSGSG KTTLLDAMSG RLGRAGTFLG EVYVNGRALR REQFQDCFSY VLQSDTLLSS
LTVRETLHYT ALLAIRRGNP GSFQKKVEAV MAELSLSHVA DRLIGNYSLG GISTGERRRV
SIAAQLLQDP MDLTSVDTQS KEREIETSKR VQMIESAYKK SAICHKTLKN IERMKHLKTL
PMVPFKTKDS PGVFSKLGVL LRRVTRNLVR NKLAVITHLL QNLIMGLFLL FFVLRVRSNV
LKGAIQDRVG LLYQFVGATP YTGMLNAVNL FPVLRAVSDQ ESQDGLYQKW QMMLAYALHV
LPFSVVATMI FSSVCYWTLG LHPEVARFGY FSAALLAPHL IGEFLTLVLL GIVQNPNIVN
SVVALLSIAG VLVGSGFLRN IQEMPIPFKI ISYFTFQKYC SEILVVNEFY GLNFTCGSSN
VSVTTNPMCA FTQGIQFIEK TCPGATSRFT MNFLILYSFI PALVILGIVV FKIRDHLISR
*
speed 1.32 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