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 ENST00000381404
Genbank transcript ID NM_001256252
UniProt peptide Q14246
alteration type single base exchange
alteration region CDS
DNA changes c.1330A>C
cDNA.1360A>C
g.32043A>C
AA changes K444Q Score: 53 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 444
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      444GMESVLNERFFKDHQAPLTTSEIK
mutated  all conserved    444GMESVLNERFFQDHQAPLTTSEI
Ptroglodytes  all conserved  ENSPTRG00000010379  496GMESVLSERFFQDHQAPLTTSEI
Mmulatta  no homologue    
Fcatus  all conserved  ENSFCAG00000005054  490GMELFLDESFFQDPQNPLANSQR
Mmusculus  all conserved  ENSMUSG00000004730  546LNERFFEDGQ-----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
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 2604 / 2604
position (AA) of stopcodon in wt / mu AA sequence 868 / 868
position of stopcodon in wt / mu cDNA 2634 / 2634
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 31 / 31
chromosome 19
strand 1
last intron/exon boundary 2629
theoretical NMD boundary in CDS 2548
length of CDS 2604
coding sequence (CDS) position 1330
cDNA position
(for ins/del: last normal base / first normal base)		 1360
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 INECLTSSVC PEHSDCVNSM GSYSCSCQVG FISRNSTCED
VDECADPRAC PEHATCNNTV GNYSCFCNPG FESSSGHLSF QGLKASCEDI DECTEMCPIN
STCTNTPGSY FCTCHPGFAP SNGQLNFTDQ GVECRDIDEC RQDPSTCGPN SICTNALGSY
SCGCIAGFHP NPEGSQKDGN FSCQRVLFKC KEDVIPDNKQ IQQCQEGTAV KPAYVSFCAQ
INNIFSVLDK VCENKTTVVS LKNTTESFVP VLKQISTWTK FTKEETSSLA TVFLESVESM
TLASFWKPSA NITPAVRTEY LDIESKVINK ECSEENVTLD LVAKGDKMKI GCSTIEESES
TETTGVAFVS FVGMESVLNE RFFKDHQAPL TTSEIKLKMN SRVVGGIMTG EKKDGFSDPI
IYTLENIQPK QKFERPICVS WSTDVKGGRW TSFGCVILEA SETYTICSCN QMANLAVIMA
SGELTMDFSL YIISHVGIII SLVCLVLAIA TFLLCRSIRN HNTYLHLHLC VCLLLAKTLF
LAGIHKTDNK MGCAIIAGFL HYLFLACFFW MLVEAVILFL MVRNLKVVNY FSSRNIKMLH
ICAFGYGLPM LVVVISASVQ PQGYGMHNRC WLNTETGFIW SFLGPVCTVI VVSKYYNSLA
KCVLKEEQGD LRDLEFPGTC AAERINSLLL TWTLWILRQR LSSVNAEVST LKDTRLLTFK
AFAQLFILGC SWVLGIFQIG PVAGVMAYLF TIINSLQGAF IFLIHCLLNG QVREEYKRWI
TGKTKPSSQS QTSRILLSSM PSASKTG*
mutated AA sequence MRGFNLLLFW GCCVMHSWEG HIRPTRKPNT KGNNCRDSTL CPAYATCTNT VDSYYCACKQ
GFLSSNGQNH FKDPGVRCKD INECLTSSVC PEHSDCVNSM GSYSCSCQVG FISRNSTCED
VDECADPRAC PEHATCNNTV GNYSCFCNPG FESSSGHLSF QGLKASCEDI DECTEMCPIN
STCTNTPGSY FCTCHPGFAP SNGQLNFTDQ GVECRDIDEC RQDPSTCGPN SICTNALGSY
SCGCIAGFHP NPEGSQKDGN FSCQRVLFKC KEDVIPDNKQ IQQCQEGTAV KPAYVSFCAQ
INNIFSVLDK VCENKTTVVS LKNTTESFVP VLKQISTWTK FTKEETSSLA TVFLESVESM
TLASFWKPSA NITPAVRTEY LDIESKVINK ECSEENVTLD LVAKGDKMKI GCSTIEESES
TETTGVAFVS FVGMESVLNE RFFQDHQAPL TTSEIKLKMN SRVVGGIMTG EKKDGFSDPI
IYTLENIQPK QKFERPICVS WSTDVKGGRW TSFGCVILEA SETYTICSCN QMANLAVIMA
SGELTMDFSL YIISHVGIII SLVCLVLAIA TFLLCRSIRN HNTYLHLHLC VCLLLAKTLF
LAGIHKTDNK MGCAIIAGFL HYLFLACFFW MLVEAVILFL MVRNLKVVNY FSSRNIKMLH
ICAFGYGLPM LVVVISASVQ PQGYGMHNRC WLNTETGFIW SFLGPVCTVI VVSKYYNSLA
KCVLKEEQGD LRDLEFPGTC AAERINSLLL TWTLWILRQR LSSVNAEVST LKDTRLLTFK
AFAQLFILGC SWVLGIFQIG PVAGVMAYLF TIINSLQGAF IFLIHCLLNG QVREEYKRWI
TGKTKPSSQS QTSRILLSSM PSASKTG*
speed 1.24 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