Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 5 transcript(s)...
Querying Taster for transcript #1: ENST00000312053
Querying Taster for transcript #2: ENST00000381404
Querying Taster for transcript #3: ENST00000250572
Querying Taster for transcript #4: ENST00000381407
Querying Taster for transcript #5: ENST00000450315
MT speed 0 s - this script 3.603712 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ADGRE1polymorphism_automatic3.99680288865056e-14simple_aaeaffectedA57Tsingle base exchangers330877show file
ADGRE1polymorphism_automatic3.99680288865056e-14simple_aaeaffectedA57Tsingle base exchangers330877show file
ADGRE1polymorphism_automatic3.99680288865056e-14simple_aaeaffectedA57Tsingle base exchangers330877show file
ADGRE1polymorphism_automatic3.99680288865056e-14simple_aaeaffectedA57Tsingle base exchangers330877show file
ADGRE1polymorphism_automatic5.39568389967826e-14simple_aaeaffectedA57Tsingle base exchangers330877show file

Taster files

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 ENST00000312053
Genbank transcript ID NM_001974
UniProt peptide Q14246
alteration type single base exchange
alteration region CDS
DNA changes c.169G>A
cDNA.207G>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 2661 / 2661
position (AA) of stopcodon in wt / mu AA sequence 887 / 887
position of stopcodon in wt / mu cDNA 2699 / 2699
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 39 / 39
chromosome 19
strand 1
last intron/exon boundary 2694
theoretical NMD boundary in CDS 2605
length of CDS 2661
coding sequence (CDS) position 169
cDNA position
(for ins/del: last normal base / first normal base)		 207
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 IDECSQSPQP CGPNSSCKNL SGRYKCSCLD GFSSPTGNDW
VPGKPGNFSC TDINECLTSS VCPEHSDCVN SMGSYSCSCQ VGFISRNSTC EDVDECADPR
ACPEHATCNN TVGNYSCFCN PGFESSSGHL SFQGLKASCE DIDECTEMCP INSTCTNTPG
SYFCTCHPGF APSNGQLNFT DQGVECRDID ECRQDPSTCG PNSICTNALG SYSCGCIAGF
HPNPEGSQKD GNFSCQRVLF KCKEDVIPDN KQIQQCQEGT AVKPAYVSFC AQINNIFSVL
DKVCENKTTV VSLKNTTESF VPVLKQISTW TKFTKEETSS LATVFLESVE SMTLASFWKP
SANITPAVRT EYLDIESKVI NKECSEENVT LDLVAKGDKM KIGCSTIEES ESTETTGVAF
VSFVGMESVL NERFFKDHQA PLTTSEIKLK MNSRVVGGIM TGEKKDGFSD PIIYTLENIQ
PKQKFERPIC VSWSTDVKGG RWTSFGCVIL EASETYTICS CNQMANLAVI MASGELTMDF
SLYIISHVGI IISLVCLVLA IATFLLCRSI RNHNTYLHLH LCVCLLLAKT LFLAGIHKTD
NKMGCAIIAG FLHYLFLACF FWMLVEAVIL FLMVRNLKVV NYFSSRNIKM LHICAFGYGL
PMLVVVISAS VQPQGYGMHN RCWLNTETGF IWSFLGPVCT VIVINSLLLT WTLWILRQRL
SSVNAEVSTL KDTRLLTFKA FAQLFILGCS WVLGIFQIGP VAGVMAYLFT IINSLQGAFI
FLIHCLLNGQ VREEYKRWIT GKTKPSSQSQ TSRILLSSMP SASKTG*
mutated AA sequence MRGFNLLLFW GCCVMHSWEG HIRPTRKPNT KGNNCRDSTL CPAYATCTNT VDSYYCTCKQ
GFLSSNGQNH FKDPGVRCKD IDECSQSPQP CGPNSSCKNL SGRYKCSCLD GFSSPTGNDW
VPGKPGNFSC TDINECLTSS VCPEHSDCVN SMGSYSCSCQ VGFISRNSTC EDVDECADPR
ACPEHATCNN TVGNYSCFCN PGFESSSGHL SFQGLKASCE DIDECTEMCP INSTCTNTPG
SYFCTCHPGF APSNGQLNFT DQGVECRDID ECRQDPSTCG PNSICTNALG SYSCGCIAGF
HPNPEGSQKD GNFSCQRVLF KCKEDVIPDN KQIQQCQEGT AVKPAYVSFC AQINNIFSVL
DKVCENKTTV VSLKNTTESF VPVLKQISTW TKFTKEETSS LATVFLESVE SMTLASFWKP
SANITPAVRT EYLDIESKVI NKECSEENVT LDLVAKGDKM KIGCSTIEES ESTETTGVAF
VSFVGMESVL NERFFKDHQA PLTTSEIKLK MNSRVVGGIM TGEKKDGFSD PIIYTLENIQ
PKQKFERPIC VSWSTDVKGG RWTSFGCVIL EASETYTICS CNQMANLAVI MASGELTMDF
SLYIISHVGI IISLVCLVLA IATFLLCRSI RNHNTYLHLH LCVCLLLAKT LFLAGIHKTD
NKMGCAIIAG FLHYLFLACF FWMLVEAVIL FLMVRNLKVV NYFSSRNIKM LHICAFGYGL
PMLVVVISAS VQPQGYGMHN RCWLNTETGF IWSFLGPVCT VIVINSLLLT WTLWILRQRL
SSVNAEVSTL KDTRLLTFKA FAQLFILGCS WVLGIFQIGP VAGVMAYLFT IINSLQGAFI
FLIHCLLNGQ VREEYKRWIT GKTKPSSQSQ TSRILLSSMP SASKTG*
speed 0.35 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
back to results table
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 0.82 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
back to results table
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 ENST00000250572
Genbank transcript ID NM_001256253
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 2466 / 2466
position (AA) of stopcodon in wt / mu AA sequence 822 / 822
position of stopcodon in wt / mu cDNA 2496 / 2496
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 2491
theoretical NMD boundary in CDS 2410
length of CDS 2466
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 IDECSQSPQP CGPNSSCKNL SGRYKCSCLD GFSSPTGNDW
VPGKPGNFSC TDINECLTSS VCPEHSDCVN SMGSYSCSCQ VGFISRNSTC EDVDECADPR
ACPEHATCNN TVGNYSCFCN PGFESSSGHL SFQGLKASCE DIDECTEMCP INSTCTNTPG
SYFCTCHPGF APSNGQLNFT DQGVECRDID ECRQDPSTCG PNSICTNALG SYSCGCIAGF
HPNPEGSQKD GNFSCQRVLF KCKEDVIPDN KQIQQCQEGT AVKPAYVSFC AQINNIFSVL
DKVCENKTTV VSLKNTTESF VPVLKQISTW TKFTKEETSS LATVFLESVE SMTLASFWKP
SANITPAVRT EYLDIESKVI NKECSEENVT LDLVAKGDKM KIGCSTIEES ESTETTGVAF
VSFVGMESVL NERFFKDHQA PLTTSEIKLK MNSRVVGGIM TGEKKDGFSD PIIYTLENIQ
PKQKFERPIC VSWSTDVKGG RWTSFGCVIL EASETYTICS CNQMANLAVI MASGELTMGC
AIIAGFLHYL FLACFFWMLV EAVILFLMVR NLKVVNYFSS RNIKMLHICA FGYGLPMLVV
VISASVQPQG YGMHNRCWLN TETGFIWSFL GPVCTVIVIN SLLLTWTLWI LRQRLSSVNA
EVSTLKDTRL LTFKAFAQLF ILGCSWVLGI FQIGPVAGVM AYLFTIINSL QGAFIFLIHC
LLNGQVREEY KRWITGKTKP SSQSQTSRIL LSSMPSASKT G*
mutated AA sequence MRGFNLLLFW GCCVMHSWEG HIRPTRKPNT KGNNCRDSTL CPAYATCTNT VDSYYCTCKQ
GFLSSNGQNH FKDPGVRCKD IDECSQSPQP CGPNSSCKNL SGRYKCSCLD GFSSPTGNDW
VPGKPGNFSC TDINECLTSS VCPEHSDCVN SMGSYSCSCQ VGFISRNSTC EDVDECADPR
ACPEHATCNN TVGNYSCFCN PGFESSSGHL SFQGLKASCE DIDECTEMCP INSTCTNTPG
SYFCTCHPGF APSNGQLNFT DQGVECRDID ECRQDPSTCG PNSICTNALG SYSCGCIAGF
HPNPEGSQKD GNFSCQRVLF KCKEDVIPDN KQIQQCQEGT AVKPAYVSFC AQINNIFSVL
DKVCENKTTV VSLKNTTESF VPVLKQISTW TKFTKEETSS LATVFLESVE SMTLASFWKP
SANITPAVRT EYLDIESKVI NKECSEENVT LDLVAKGDKM KIGCSTIEES ESTETTGVAF
VSFVGMESVL NERFFKDHQA PLTTSEIKLK MNSRVVGGIM TGEKKDGFSD PIIYTLENIQ
PKQKFERPIC VSWSTDVKGG RWTSFGCVIL EASETYTICS CNQMANLAVI MASGELTMGC
AIIAGFLHYL FLACFFWMLV EAVILFLMVR NLKVVNYFSS RNIKMLHICA FGYGLPMLVV
VISASVQPQG YGMHNRCWLN TETGFIWSFL GPVCTVIVIN SLLLTWTLWI LRQRLSSVNA
EVSTLKDTRL LTFKAFAQLF ILGCSWVLGI FQIGPVAGVM AYLFTIINSL QGAFIFLIHC
LLNGQVREEY KRWITGKTKP SSQSQTSRIL LSSMPSASKT G*
speed 0.29 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
back to results table
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 ENST00000450315
Genbank transcript ID NM_001256255
UniProt peptide Q14246
alteration type single base exchange
alteration region CDS
DNA changes c.169G>A
cDNA.190G>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  241TCTNTPGSYFCTCHPGFAPSNGH
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000005054  238TCTNTPGSYFCTCSPGFAPSNGQ
Mmusculus  not conserved  ENSMUSG00000004730  292SCTNTIGSYFCTCHPGFASSNGQ
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 2130 / 2130
position (AA) of stopcodon in wt / mu AA sequence 710 / 710
position of stopcodon in wt / mu cDNA 2151 / 2151
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 2146
theoretical NMD boundary in CDS 2074
length of CDS 2130
coding sequence (CDS) position 169
cDNA position
(for ins/del: last normal base / first normal base)		 190
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 IDECSQSPQP CGPNSSCKNL SGRYKCSCLD GFSSPTGNDW
VPGKPGNFSC TDINECLTSR VLFKCKEDVI PDNKQIQQCQ EGTAVKPAYV SFCAQINNIF
SVLDKVCENK TTVVSLKNTT ESFVPVLKQI STWTKFTKEE TSSLATVFLE SVESMTLASF
WKPSANITPA VRTEYLDIES KVINKECSEE NVTLDLVAKG DKMKIGCSTI EESESTETTG
VAFVSFVGME SVLNERFFKD HQAPLTTSEI KLKMNSRVVG GIMTGEKKDG FSDPIIYTLE
NIQPKQKFER PICVSWSTDV KGGRWTSFGC VILEASETYT ICSCNQMANL AVIMASGELT
MDFSLYIISH VGIIISLVCL VLAIATFLLC RSIRNHNTYL HLHLCVCLLL AKTLFLAGIH
KTDNKMGCAI IAGFLHYLFL ACFFWMLVEA VILFLMVRNL KVVNYFSSRN IKMLHICAFG
YGLPMLVVVI SASVQPQGYG MHNRCWLNTE TGFIWSFLGP VCTVIVINSL LLTWTLWILR
QRLSSVNAEV STLKDTRLLT FKAFAQLFIL GCSWVLGIFQ IGPVAGVMAY LFTIINSLQG
AFIFLIHCLL NGQVREEYKR WITGKTKPSS QSQTSRILLS SMPSASKTG*
mutated AA sequence MRGFNLLLFW GCCVMHSWEG HIRPTRKPNT KGNNCRDSTL CPAYATCTNT VDSYYCTCKQ
GFLSSNGQNH FKDPGVRCKD IDECSQSPQP CGPNSSCKNL SGRYKCSCLD GFSSPTGNDW
VPGKPGNFSC TDINECLTSR VLFKCKEDVI PDNKQIQQCQ EGTAVKPAYV SFCAQINNIF
SVLDKVCENK TTVVSLKNTT ESFVPVLKQI STWTKFTKEE TSSLATVFLE SVESMTLASF
WKPSANITPA VRTEYLDIES KVINKECSEE NVTLDLVAKG DKMKIGCSTI EESESTETTG
VAFVSFVGME SVLNERFFKD HQAPLTTSEI KLKMNSRVVG GIMTGEKKDG FSDPIIYTLE
NIQPKQKFER PICVSWSTDV KGGRWTSFGC VILEASETYT ICSCNQMANL AVIMASGELT
MDFSLYIISH VGIIISLVCL VLAIATFLLC RSIRNHNTYL HLHLCVCLLL AKTLFLAGIH
KTDNKMGCAI IAGFLHYLFL ACFFWMLVEA VILFLMVRNL KVVNYFSSRN IKMLHICAFG
YGLPMLVVVI SASVQPQGYG MHNRCWLNTE TGFIWSFLGP VCTVIVINSL LLTWTLWILR
QRLSSVNAEV STLKDTRLLT FKAFAQLFIL GCSWVLGIFQ IGPVAGVMAY LFTIINSLQG
AFIFLIHCLL NGQVREEYKR WITGKTKPSS QSQTSRILLS SMPSASKTG*
speed 0.35 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999946 (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 ENST00000381407
Genbank transcript ID NM_001256254
UniProt peptide Q14246
alteration type single base exchange
alteration region CDS
DNA changes c.169G>A
cDNA.190G>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  198TCNNTVGNYSCFCNPGFESSSGH
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000005054  195TCHNSPGSYSCVCNLGFESSSGN
Mmusculus  all conserved  ENSMUSG00000004730  249ICINTLGSYSCSCPAGFSLPTFQ
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 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 169
cDNA position
(for ins/del: last normal base / first normal base)		 190
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 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 VDSYYCTCKQ
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*
speed 0.34 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
back to results table

Problems