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 ENST00000250572
Genbank transcript ID NM_001256253
UniProt peptide Q14246
alteration type single base exchange
alteration region CDS
DNA changes c.1486A>C
cDNA.1516A>C
g.32043A>C
AA changes K496Q Score: 53 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 496
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      496GMESVLNERFFKDHQAPLTTSEIK
mutated  all conserved    496GMESVLNERFFQDHQAPLTTSEI
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
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 1486
cDNA position
(for ins/del: last normal base / first normal base)		 1516
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 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 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 NERFFQDHQA 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 0.62 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