Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998722 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:14875388G>AN/A show variant in all transcripts   IGV
HGNC symbol ADGRE2
Ensembl transcript ID ENST00000315576
Genbank transcript ID N/A
UniProt peptide Q9UHX3
alteration type single base exchange
alteration region CDS
DNA changes c.941C>T
cDNA.1397C>T
g.13966C>T
AA changes A314V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 314
frameshift no
known variant Reference ID: rs35612307
databasehomozygous (A/A)heterozygousallele carriers
1000G128695823
ExAC46862220626892
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2110
-0.3870
(flanking)-1.7780
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      314SILQALDELLEAPGDLETLPRLQQ
mutated  not conserved    314SILQALDELLEVPGDLETLPRLQ
Ptroglodytes  all identical  ENSPTRG00000010601  286SILQALDELLEAPGDLETLPRLQ
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no homologue    
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 
24540TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2472 / 2472
position (AA) of stopcodon in wt / mu AA sequence 824 / 824
position of stopcodon in wt / mu cDNA 2928 / 2928
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 457 / 457
chromosome 19
strand -1
last intron/exon boundary 2920
theoretical NMD boundary in CDS 2413
length of CDS 2472
coding sequence (CDS) position 941
cDNA position
(for ins/del: last normal base / first normal base)		 1397
gDNA position
(for ins/del: last normal base / first normal base)		 13966
chromosomal position
(for ins/del: last normal base / first normal base)		 14875388
original gDNA sequence snippet GCTGGATGAGCTGCTGGAGGCCCCTGGGGACCTGGAGACCC
altered gDNA sequence snippet GCTGGATGAGCTGCTGGAGGTCCCTGGGGACCTGGAGACCC
original cDNA sequence snippet GCTGGATGAGCTGCTGGAGGCCCCTGGGGACCTGGAGACCC
altered cDNA sequence snippet GCTGGATGAGCTGCTGGAGGTCCCTGGGGACCTGGAGACCC
wildtype AA sequence MGGRVFLVFL AFCVWLTLPG AETQDSRGCA RWCPQDSSCV NATACRCNPG FSSFSEIITT
PMETCDDINE CATLSKVSCG KFSDCWNTEG SYDCVCSPGY EPVSGAKTFK NESENTCQDV
DECQQNPRLC KSYGTCVNTL GSYTCQCLPG FKLKPEDPKL CTDVNECTSG QNPCHSSTHC
LNNVGSYQCR CRPGWQPIPG SPNGPNNTVC EDVDECSSGQ HQCDSSTVCF NTVGSYSCRC
RPGWKPRHGI PNNQKDTVCE DMTFSTWTPP PGVHSQTLSR FFDKVQDLGR DYKPGLANNT
IQSILQALDE LLEAPGDLET LPRLQQHCVA SHLLDGLEDV LRGLSKNLSN GLLNFSYPAG
TELSLEVQKQ VDRSVTLRQN QAVMQLDWNQ AQKSGDPGPS VVGLVSIPGM GKLLAEAPLV
LEPEKQMLLH ETHQGLLQDG SPILLSDVIS AFLSNNDTQN LSSPVTFTFS HRSVIPRQKV
LCVFWEHGQN GCGHWATTGC STIGTRDTST ICRCTHLSSF AVLMAHYDVQ EEDPVLTVIT
YMGLSVSLLC LLLAALTFLL CKAIQNTSTS LHLQLSLCLF LAHLLFLVAI DQTGHKVLCS
IIAGTLHYLY LATLTWMLLE ALYLFLTARN LTVVNYSSIN RFMKKLMFPV GYGVPAVTVA
ISAASRPHLY GTPSRCWLQP EKGFIWGFLG PVCAIFSVNL VLFLVTLWIL KNRLSSLNSE
VSTLRNTRML AFKATAQLFI LGCTWCLGIL QVGPAARVMA YLFTIINSLQ GVFIFLVYCL
LSQQVREQYG KWSKGIRKLK TESEMHTLSS SAKADTSKPS TVN*
mutated AA sequence MGGRVFLVFL AFCVWLTLPG AETQDSRGCA RWCPQDSSCV NATACRCNPG FSSFSEIITT
PMETCDDINE CATLSKVSCG KFSDCWNTEG SYDCVCSPGY EPVSGAKTFK NESENTCQDV
DECQQNPRLC KSYGTCVNTL GSYTCQCLPG FKLKPEDPKL CTDVNECTSG QNPCHSSTHC
LNNVGSYQCR CRPGWQPIPG SPNGPNNTVC EDVDECSSGQ HQCDSSTVCF NTVGSYSCRC
RPGWKPRHGI PNNQKDTVCE DMTFSTWTPP PGVHSQTLSR FFDKVQDLGR DYKPGLANNT
IQSILQALDE LLEVPGDLET LPRLQQHCVA SHLLDGLEDV LRGLSKNLSN GLLNFSYPAG
TELSLEVQKQ VDRSVTLRQN QAVMQLDWNQ AQKSGDPGPS VVGLVSIPGM GKLLAEAPLV
LEPEKQMLLH ETHQGLLQDG SPILLSDVIS AFLSNNDTQN LSSPVTFTFS HRSVIPRQKV
LCVFWEHGQN GCGHWATTGC STIGTRDTST ICRCTHLSSF AVLMAHYDVQ EEDPVLTVIT
YMGLSVSLLC LLLAALTFLL CKAIQNTSTS LHLQLSLCLF LAHLLFLVAI DQTGHKVLCS
IIAGTLHYLY LATLTWMLLE ALYLFLTARN LTVVNYSSIN RFMKKLMFPV GYGVPAVTVA
ISAASRPHLY GTPSRCWLQP EKGFIWGFLG PVCAIFSVNL VLFLVTLWIL KNRLSSLNSE
VSTLRNTRML AFKATAQLFI LGCTWCLGIL QVGPAARVMA YLFTIINSLQ GVFIFLVYCL
LSQQVREQYG KWSKGIRKLK TESEMHTLSS SAKADTSKPS TVN*
speed 1.13 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