Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998337 (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) chr19:6919624A>CN/A show variant in all transcripts   IGV
HGNC symbol ADGRE1
Ensembl transcript ID ENST00000381407
Genbank transcript ID NM_001256254
UniProt peptide Q14246
alteration type single base exchange
alteration region CDS
DNA changes c.1063A>C
cDNA.1084A>C
g.32043A>C
AA changes K355Q Score: 53 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 355
frameshift no
known variant Reference ID: rs373533
databasehomozygous (C/C)heterozygousallele carriers
1000G13369632299
ExAC---
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5990.538
-0.0290.085
(flanking)0.0080.028
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc gained320450.55mu: TTAAATGAGCGCTTCTTCCAAGACCACCAGGCTCCCTTGAC ccaa|GACC
Acc gained320530.32mu: GCGCTTCTTCCAAGACCACCAGGCTCCCTTGACCACCTCTG acca|GGCT
distance from splice site 66
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      355GMESVLNERFFKDHQAPLTTSEIK
mutated  all conserved    355GMESVLNERFFQDHQAP
Ptroglodytes  all conserved  ENSPTRG00000010379  496GMESVLSERFFQDHQAPLTTSEI
Mmulatta  no homologue    
Fcatus  all conserved  ENSFCAG00000005054  490GMELFLDESFFQDPQNPLANSQR
Mmusculus  all conserved  ENSMUSG00000004730  546HMESVLNERFFEDGQ-----SFR
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 
21599TOPO_DOMExtracellular (Potential).lost
317599COMPBIASSer/Thr-rich.lost
366366CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
375375CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
430430CONFLICTT -> A (in Ref. 1; CAA57232).might get lost (downstream of altered splice site)
448448CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
547596DOMAINGPS.might get lost (downstream of altered splice site)
600627TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
628634TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
635656TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
657666TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
667690TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
691709TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
710731TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
732747TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
748776TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
777794TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
795814TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
815829TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
830852TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
853886TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2238 / 2238
position (AA) of stopcodon in wt / mu AA sequence 746 / 746
position of stopcodon in wt / mu cDNA 2259 / 2259
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 22 / 22
chromosome 19
strand 1
last intron/exon boundary 2254
theoretical NMD boundary in CDS 2182
length of CDS 2238
coding sequence (CDS) position 1063
cDNA position
(for ins/del: last normal base / first normal base)		 1084
gDNA position
(for ins/del: last normal base / first normal base)		 32043
chromosomal position
(for ins/del: last normal base / first normal base)		 6919624
original gDNA sequence snippet TTTTAAATGAGCGCTTCTTCAAAGACCACCAGGCTCCCTTG
altered gDNA sequence snippet TTTTAAATGAGCGCTTCTTCCAAGACCACCAGGCTCCCTTG
original cDNA sequence snippet TTTTAAATGAGCGCTTCTTCAAAGACCACCAGGCTCCCTTG
altered cDNA sequence snippet TTTTAAATGAGCGCTTCTTCCAAGACCACCAGGCTCCCTTG
wildtype AA sequence MRGFNLLLFW GCCVMHSWEG HIRPTRKPNT KGNNCRDSTL CPAYATCTNT VDSYYCACKQ
GFLSSNGQNH FKDPGVRCKD IDECTEMCPI NSTCTNTPGS YFCTCHPGFA PSNGQLNFTD
QGVECRDIDE CRQDPSTCGP NSICTNALGS YSCGCIAGFH PNPEGSQKDG NFSCQRVLFK
CKEDVIPDNK QIQQCQEGTA VKPAYVSFCA QINNIFSVLD KVCENKTTVV SLKNTTESFV
PVLKQISTWT KFTKEETSSL ATVFLESVES MTLASFWKPS ANITPAVRTE YLDIESKVIN
KECSEENVTL DLVAKGDKMK IGCSTIEESE STETTGVAFV SFVGMESVLN ERFFKDHQAP
LTTSEIKLKM NSRVVGGIMT GEKKDGFSDP IIYTLENIQP KQKFERPICV SWSTDVKGGR
WTSFGCVILE ASETYTICSC NQMANLAVIM ASGELTMDFS LYIISHVGII ISLVCLVLAI
ATFLLCRSIR NHNTYLHLHL CVCLLLAKTL FLAGIHKTDN KMGCAIIAGF LHYLFLACFF
WMLVEAVILF LMVRNLKVVN YFSSRNIKML HICAFGYGLP MLVVVISASV QPQGYGMHNR
CWLNTETGFI WSFLGPVCTV IVINSLLLTW TLWILRQRLS SVNAEVSTLK DTRLLTFKAF
AQLFILGCSW VLGIFQIGPV AGVMAYLFTI INSLQGAFIF LIHCLLNGQV REEYKRWITG
KTKPSSQSQT SRILLSSMPS ASKTG*
mutated AA sequence MRGFNLLLFW GCCVMHSWEG HIRPTRKPNT KGNNCRDSTL CPAYATCTNT VDSYYCACKQ
GFLSSNGQNH FKDPGVRCKD IDECTEMCPI NSTCTNTPGS YFCTCHPGFA PSNGQLNFTD
QGVECRDIDE CRQDPSTCGP NSICTNALGS YSCGCIAGFH PNPEGSQKDG NFSCQRVLFK
CKEDVIPDNK QIQQCQEGTA VKPAYVSFCA QINNIFSVLD KVCENKTTVV SLKNTTESFV
PVLKQISTWT KFTKEETSSL ATVFLESVES MTLASFWKPS ANITPAVRTE YLDIESKVIN
KECSEENVTL DLVAKGDKMK IGCSTIEESE STETTGVAFV SFVGMESVLN ERFFQDHQAP
LTTSEIKLKM NSRVVGGIMT GEKKDGFSDP IIYTLENIQP KQKFERPICV SWSTDVKGGR
WTSFGCVILE ASETYTICSC NQMANLAVIM ASGELTMDFS LYIISHVGII ISLVCLVLAI
ATFLLCRSIR NHNTYLHLHL CVCLLLAKTL FLAGIHKTDN KMGCAIIAGF LHYLFLACFF
WMLVEAVILF LMVRNLKVVN YFSSRNIKML HICAFGYGLP MLVVVISASV QPQGYGMHNR
CWLNTETGFI WSFLGPVCTV IVINSLLLTW TLWILRQRLS SVNAEVSTLK DTRLLTFKAF
AQLFILGCSW VLGIFQIGPV AGVMAYLFTI INSLQGAFIF LIHCLLNGQV REEYKRWITG
KTKPSSQSQT SRILLSSMPS ASKTG*
speed 0.53 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