Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999996 (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) chr19:6896483G>AN/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.169G>A
cDNA.199G>A
g.8902G>A
AA changes A57T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 57
frameshift no
known variant Reference ID: rs330877
databasehomozygous (A/A)heterozygousallele carriers
1000G29710991396
ExAC59452087726822
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1260.013
-1.3450
(flanking)0.3940.003
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased8905wt: 0.58 / mu: 0.84wt: GCGCTTGCAAACAAG
mu: GCACTTGCAAACAAG		 GCTT|gcaa
distance from splice site 70
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      57TCTNTVDSYYCACKQGFLSSNGQN
mutated  not conserved    57TCTNTVDSYYCTCKQ
Ptroglodytes  not conserved  ENSPTRG00000010379  57TCTNTVDSYYCTCKR
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000005054  57TCTNTLDSYYCTCKG
Mmusculus  not conserved  ENSMUSG00000004730  57TCTDTTDSYYCTCK
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
3179DOMAINEGF-like 1.lost
5858DISULFIDBy similarity.might get lost (downstream of altered splice site)
7878DISULFIDBy similarity.might get lost (downstream of altered splice site)
80131DOMAINEGF-like 2; calcium-binding (Potential).might get lost (downstream of altered splice site)
8484DISULFIDBy similarity.might get lost (downstream of altered splice site)
9191DISULFIDBy similarity.might get lost (downstream of altered splice site)
9494CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
9797DISULFIDBy similarity.might get lost (downstream of altered splice site)
9999CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
106106DISULFIDBy similarity.might get lost (downstream of altered splice site)
108108DISULFIDBy similarity.might get lost (downstream of altered splice site)
127127CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
130130DISULFIDBy similarity.might get lost (downstream of altered splice site)
132171DOMAINEGF-like 3; calcium-binding (Potential).might get lost (downstream of altered splice site)
136136DISULFIDBy similarity.might get lost (downstream of altered splice site)
142142DISULFIDBy similarity.might get lost (downstream of altered splice site)
148148DISULFIDBy similarity.might get lost (downstream of altered splice site)
157157DISULFIDBy similarity.might get lost (downstream of altered splice site)
159159DISULFIDBy similarity.might get lost (downstream of altered splice site)
167167CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
170170DISULFIDBy similarity.might get lost (downstream of altered splice site)
172220DOMAINEGF-like 4; calcium-binding (Potential).might get lost (downstream of altered splice site)
176176DISULFIDBy similarity.might get lost (downstream of altered splice site)
182182DISULFIDBy similarity.might get lost (downstream of altered splice site)
188188DISULFIDBy similarity.might get lost (downstream of altered splice site)
189189CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
194194CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
197197DISULFIDBy similarity.might get lost (downstream of altered splice site)
199199DISULFIDBy similarity.might get lost (downstream of altered splice site)
212212CONFLICTF -> C (in Ref. 1; CAA57232).might get lost (downstream of altered splice site)
219219DISULFIDBy similarity.might get lost (downstream of altered splice site)
221267DOMAINEGF-like 5; calcium-binding (Potential).might get lost (downstream of altered splice site)
225225DISULFIDBy similarity.might get lost (downstream of altered splice site)
229229DISULFIDBy similarity.might get lost (downstream of altered splice site)
232232CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
235235DISULFIDBy similarity.might get lost (downstream of altered splice site)
244244DISULFIDBy similarity.might get lost (downstream of altered splice site)
246246DISULFIDBy similarity.might get lost (downstream of altered splice site)
258258CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
266266DISULFIDBy similarity.might get lost (downstream of altered splice site)
268316DOMAINEGF-like 6; calcium-binding (Potential).might get lost (downstream of altered splice site)
272272DISULFIDBy similarity.might get lost (downstream of altered splice site)
279279DISULFIDBy similarity.might get lost (downstream of altered splice site)
285285DISULFIDBy similarity.might get lost (downstream of altered splice site)
294294DISULFIDBy similarity.might get lost (downstream of altered splice site)
296296DISULFIDBy similarity.might get lost (downstream of altered splice site)
312312CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
315315DISULFIDBy similarity.might get lost (downstream of altered splice site)
317599COMPBIASSer/Thr-rich.might get lost (downstream of altered splice site)
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 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 169
cDNA position
(for ins/del: last normal base / first normal base)		 199
gDNA position
(for ins/del: last normal base / first normal base)		 8902
chromosomal position
(for ins/del: last normal base / first normal base)		 6896483
original gDNA sequence snippet CAGTGGACAGTTACTATTGCGCTTGCAAACAAGGCTTCCTG
altered gDNA sequence snippet CAGTGGACAGTTACTATTGCACTTGCAAACAAGGCTTCCTG
original cDNA sequence snippet CAGTGGACAGTTACTATTGCGCTTGCAAACAAGGCTTCCTG
altered cDNA sequence snippet CAGTGGACAGTTACTATTGCACTTGCAAACAAGGCTTCCTG
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 VDSYYCTCKQ
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*
speed 0.91 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