Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999997211 (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) chr6:47646842A>GN/A show variant in all transcripts   IGV
HGNC symbol ADGRF2
Ensembl transcript ID ENST00000398742
Genbank transcript ID N/A
UniProt peptide Q8IZF7
alteration type single base exchange
alteration region CDS
DNA changes c.239A>G
cDNA.288A>G
g.22671A>G
AA changes Q80R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 80
frameshift no
known variant Reference ID: rs6907125
databasehomozygous (G/G)heterozygousallele carriers
1000G72211451867
ExAC22256-1174510511
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5520.11
-0.4640.013
(flanking)-0.40.016
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 29
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      80QKTWHKITDTCQTLNALNIFEEDS
mutated  all conserved    80QKTWHKITDTCRTLNALNIFEED
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000002459  139QKKWHKITETCQTL
Mmusculus  not conserved  ENSMUSG00000057899  81AKKWHKVTETCHTLNTHSIFEED
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0039818  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1451TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1929 / 1929
position (AA) of stopcodon in wt / mu AA sequence 643 / 643
position of stopcodon in wt / mu cDNA 1978 / 1978
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 50 / 50
chromosome 6
strand 1
last intron/exon boundary 2092
theoretical NMD boundary in CDS 1992
length of CDS 1929
coding sequence (CDS) position 239
cDNA position
(for ins/del: last normal base / first normal base)		 288
gDNA position
(for ins/del: last normal base / first normal base)		 22671
chromosomal position
(for ins/del: last normal base / first normal base)		 47646842
original gDNA sequence snippet CAAGATCACTGACACCTGCCAGACTCTTAATGCCCTCAACA
altered gDNA sequence snippet CAAGATCACTGACACCTGCCGGACTCTTAATGCCCTCAACA
original cDNA sequence snippet CAAGATCACTGACACCTGCCAGACTCTTAATGCCCTCAACA
altered cDNA sequence snippet CAAGATCACTGACACCTGCCGGACTCTTAATGCCCTCAACA
wildtype AA sequence MTHILLLYYL VFLLPTESCR TLYQAASKSK EKVPARPHGV CDGVCTDYSQ CTQPCPPDTQ
GNMGFSCRQK TWHKITDTCQ TLNALNIFEE DSRLVQPFED NIKISVYTGK SETITDMLLQ
KCPTDLSCVI RNIQQSPWIP GNIAVIVQLL HNISTAIWTG VDEAKMQSYS TIANHILNSK
SISNWTFIPD RNSSYILLHS VNSFARRLFI DKHPVDISDV FIHTMGTTIS GDNIGKNFTF
SMRINDTSNE VTGRVLISRD ELRKVPSPSQ VISIAFPTIG AILEASLLEN VTVNGLVLSA
ILPKELKRIS LIFEKISKSE ERRTQCVGWH SVENRWDQQA CKMIQENSQQ AVCKCRPSKL
FTSFSILMSP HILESLILTY ITYVGLGISI CSLILCLSIE VLVWSQVTKT EITYLRHVCI
VNIAATLLMA DVWFIVASFL SGPITHHKGC VAATFFVHFF YLSVFFWMLA KALLILYGIM
IVFHTLPKSV LVASLFSVGY GCPLAIAAIT VAATEPGKGY LRPEICWLNW DMTKALLAFV
IPALAIVVVN LITVTLVIVK TQRAAIGNSM FQEVRAIVRI SKNIAILTPL LGLTWGFGVA
TVIDDRSLAF HIIFSLLNAF QGFFILVFGT ILDPKIREAL KG*
mutated AA sequence MTHILLLYYL VFLLPTESCR TLYQAASKSK EKVPARPHGV CDGVCTDYSQ CTQPCPPDTQ
GNMGFSCRQK TWHKITDTCR TLNALNIFEE DSRLVQPFED NIKISVYTGK SETITDMLLQ
KCPTDLSCVI RNIQQSPWIP GNIAVIVQLL HNISTAIWTG VDEAKMQSYS TIANHILNSK
SISNWTFIPD RNSSYILLHS VNSFARRLFI DKHPVDISDV FIHTMGTTIS GDNIGKNFTF
SMRINDTSNE VTGRVLISRD ELRKVPSPSQ VISIAFPTIG AILEASLLEN VTVNGLVLSA
ILPKELKRIS LIFEKISKSE ERRTQCVGWH SVENRWDQQA CKMIQENSQQ AVCKCRPSKL
FTSFSILMSP HILESLILTY ITYVGLGISI CSLILCLSIE VLVWSQVTKT EITYLRHVCI
VNIAATLLMA DVWFIVASFL SGPITHHKGC VAATFFVHFF YLSVFFWMLA KALLILYGIM
IVFHTLPKSV LVASLFSVGY GCPLAIAAIT VAATEPGKGY LRPEICWLNW DMTKALLAFV
IPALAIVVVN LITVTLVIVK TQRAAIGNSM FQEVRAIVRI SKNIAILTPL LGLTWGFGVA
TVIDDRSLAF HIIFSLLNAF QGFFILVFGT ILDPKIREAL KG*
speed 0.39 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