Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999997878 (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 ENST00000353876
Genbank transcript ID N/A
UniProt peptide Q9UHX3
alteration type single base exchange
alteration region CDS
DNA changes c.662C>T
cDNA.1118C>T
g.13966C>T
AA changes A221V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 221
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      221SILQALDELLEAPGDLETLPRLQQ
mutated  not conserved    221SILQALDELLEVPGDLETLPRLQ
Ptroglodytes  all identical  ENSPTRG00000010601  285SILQALDELLEAPGDLETLPR
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
212260DOMAINEGF-like 5; calcium-binding (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2193 / 2193
position (AA) of stopcodon in wt / mu AA sequence 731 / 731
position of stopcodon in wt / mu cDNA 2649 / 2649
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 2641
theoretical NMD boundary in CDS 2134
length of CDS 2193
coding sequence (CDS) position 662
cDNA position
(for ins/del: last normal base / first normal base)		 1118
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
DECSSGQHQC DSSTVCFNTV GSYSCRCRPG WKPRHGIPNN QKDTVCEDMT FSTWTPPPGV
HSQTLSRFFD KVQDLGRDYK PGLANNTIQS ILQALDELLE APGDLETLPR LQQHCVASHL
LDGLEDVLRG LSKNLSNGLL NFSYPAGTEL SLEVQKQVDR SVTLRQNQAV MQLDWNQAQK
SGDPGPSVVG LVSIPGMGKL LAEAPLVLEP EKQMLLHETH QGLLQDGSPI LLSDVISAFL
SNNDTQNLSS PVTFTFSHRS VIPRQKVLCV FWEHGQNGCG HWATTGCSTI GTRDTSTICR
CTHLSSFAVL MAHYDVQEED PVLTVITYMG LSVSLLCLLL AALTFLLCKA IQNTSTSLHL
QLSLCLFLAH LLFLVAIDQT GHKVLCSIIA GTLHYLYLAT LTWMLLEALY LFLTARNLTV
VNYSSINRFM KKLMFPVGYG VPAVTVAISA ASRPHLYGTP SRCWLQPEKG FIWGFLGPVC
AIFSVNLVLF LVTLWILKNR LSSLNSEVST LRNTRMLAFK ATAQLFILGC TWCLGILQVG
PAARVMAYLF TIINSLQGVF IFLVYCLLSQ QVREQYGKWS KGIRKLKTES EMHTLSSSAK
ADTSKPSTVN *
mutated AA sequence MGGRVFLVFL AFCVWLTLPG AETQDSRGCA RWCPQDSSCV NATACRCNPG FSSFSEIITT
PMETCDDINE CATLSKVSCG KFSDCWNTEG SYDCVCSPGY EPVSGAKTFK NESENTCQDV
DECSSGQHQC DSSTVCFNTV GSYSCRCRPG WKPRHGIPNN QKDTVCEDMT FSTWTPPPGV
HSQTLSRFFD KVQDLGRDYK PGLANNTIQS ILQALDELLE VPGDLETLPR LQQHCVASHL
LDGLEDVLRG LSKNLSNGLL NFSYPAGTEL SLEVQKQVDR SVTLRQNQAV MQLDWNQAQK
SGDPGPSVVG LVSIPGMGKL LAEAPLVLEP EKQMLLHETH QGLLQDGSPI LLSDVISAFL
SNNDTQNLSS PVTFTFSHRS VIPRQKVLCV FWEHGQNGCG HWATTGCSTI GTRDTSTICR
CTHLSSFAVL MAHYDVQEED PVLTVITYMG LSVSLLCLLL AALTFLLCKA IQNTSTSLHL
QLSLCLFLAH LLFLVAIDQT GHKVLCSIIA GTLHYLYLAT LTWMLLEALY LFLTARNLTV
VNYSSINRFM KKLMFPVGYG VPAVTVAISA ASRPHLYGTP SRCWLQPEKG FIWGFLGPVC
AIFSVNLVLF LVTLWILKNR LSSLNSEVST LRNTRMLAFK ATAQLFILGC TWCLGILQVG
PAARVMAYLF TIINSLQGVF IFLVYCLLSQ QVREQYGKWS KGIRKLKTES EMHTLSSSAK
ADTSKPSTVN *
speed 0.38 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