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 ENST00000450315
Genbank transcript ID NM_001256255
UniProt peptide Q14246
alteration type single base exchange
alteration region CDS
DNA changes c.955A>C
cDNA.976A>C
g.32043A>C
AA changes K319Q Score: 53 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 319
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      319GMESVLNERFFKDHQAPLTTSEIK
mutated  all conserved    319GMESVLNERFFQDHQAPLTTSEI
Ptroglodytes  all conserved  ENSPTRG00000010379  496GMESVLSERFFQDHQAPLTTS
Mmulatta  no homologue    
Fcatus  all conserved  ENSFCAG00000005054  490GMELFLDESFFQDPQNPL
Mmusculus  all conserved  ENSMUSG00000004730  546HMESVLNERFFEDGQ-----S
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 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 955
cDNA position
(for ins/del: last normal base / first normal base)		 976
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 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 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 SVLNERFFQD 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 0.65 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