Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999982883481217 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM004346)
  • known disease mutation: rs4990 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:186572092C>TN/A show variant in all transcripts   IGV
HGNC symbol ADIPOQ
Ensembl transcript ID ENST00000320741
Genbank transcript ID NM_004797
UniProt peptide Q15848
alteration type single base exchange
alteration region CDS
DNA changes c.334C>T
cDNA.402C>T
g.11630C>T
AA changes R112C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 112
frameshift no
known variant Reference ID: rs121917815
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC022

known disease mutation: rs4990 (pathogenic for Hypoadiponectinemia) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM004346)

known disease mutation at this position, please check HGMD for details (HGMD ID CM004346)
known disease mutation at this position, please check HGMD for details (HGMD ID CM004346)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0340.419
1.7910.861
(flanking)1.7850.885
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained116230.33mu: GCCTATGTATACTGC CTAT|gtat
distance from splice site 120
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      112KGEPGEGAYVYRSAFSVGLETYVT
mutated  not conserved    112KGEPGEGAYVYCSAFSVGLE
Ptroglodytes  all identical  ENSPTRG00000015720  112KGEPGEGAYVYRSAFSVGLE
Mmulatta  all identical  ENSMMUG00000002684  111KGEPGEGAYVYRSAFSVGLET
Fcatus  all identical  ENSFCAG00000013885  112KREPGESAYVYRSAFSVGLE
Mmusculus  all identical  ENSMUSG00000022878  115KGEPGEAAYVYRSAFSV
Ggallus  all identical  ENSGALG00000005554  110KGQKGESSYVYRSAFSVGLTERA
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000056411  139KGARGESASSYHSAFSVGLSEIV
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000003033  113KGD---SPYIQRSAFSMGLSTKS
protein features
start (aa)end (aa)featuredetails 
108244DOMAINC1q.lost
114118STRANDmight get lost (downstream of altered splice site)
134137STRANDmight get lost (downstream of altered splice site)
145147TURNmight get lost (downstream of altered splice site)
156177STRANDmight get lost (downstream of altered splice site)
180187STRANDmight get lost (downstream of altered splice site)
195205STRANDmight get lost (downstream of altered splice site)
210216STRANDmight get lost (downstream of altered splice site)
220225STRANDmight get lost (downstream of altered splice site)
230230SITENot glycosylated.might get lost (downstream of altered splice site)
233241STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 735 / 735
position (AA) of stopcodon in wt / mu AA sequence 245 / 245
position of stopcodon in wt / mu cDNA 803 / 803
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 69 / 69
chromosome 3
strand 1
last intron/exon boundary 283
theoretical NMD boundary in CDS 164
length of CDS 735
coding sequence (CDS) position 334
cDNA position
(for ins/del: last normal base / first normal base)		 402
gDNA position
(for ins/del: last normal base / first normal base)		 11630
chromosomal position
(for ins/del: last normal base / first normal base)		 186572092
original gDNA sequence snippet GAGAAGGTGCCTATGTATACCGCTCAGCATTCAGTGTGGGA
altered gDNA sequence snippet GAGAAGGTGCCTATGTATACTGCTCAGCATTCAGTGTGGGA
original cDNA sequence snippet GAGAAGGTGCCTATGTATACCGCTCAGCATTCAGTGTGGGA
altered cDNA sequence snippet GAGAAGGTGCCTATGTATACTGCTCAGCATTCAGTGTGGGA
wildtype AA sequence MLLLGAVLLL LALPGHDQET TTQGPGVLLP LPKGACTGWM AGIPGHPGHN GAPGRDGRDG
TPGEKGEKGD PGLIGPKGDI GETGVPGAEG PRGFPGIQGR KGEPGEGAYV YRSAFSVGLE
TYVTIPNMPI RFTKIFYNQQ NHYDGSTGKF HCNIPGLYYF AYHITVYMKD VKVSLFKKDK
AMLFTYDQYQ ENNVDQASGS VLLHLEVGDQ VWLQVYGEGE RNGLYADNDN DSTFTGFLLY
HDTN*
mutated AA sequence MLLLGAVLLL LALPGHDQET TTQGPGVLLP LPKGACTGWM AGIPGHPGHN GAPGRDGRDG
TPGEKGEKGD PGLIGPKGDI GETGVPGAEG PRGFPGIQGR KGEPGEGAYV YCSAFSVGLE
TYVTIPNMPI RFTKIFYNQQ NHYDGSTGKF HCNIPGLYYF AYHITVYMKD VKVSLFKKDK
AMLFTYDQYQ ENNVDQASGS VLLHLEVGDQ VWLQVYGEGE RNGLYADNDN DSTFTGFLLY
HDTN*
speed 1.14 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