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 ENST00000296862
Genbank transcript ID N/A
UniProt peptide Q8IZF7
alteration type single base exchange
alteration region CDS
DNA changes c.443A>G
cDNA.443A>G
g.22671A>G
AA changes Q148R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 148
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      148QKTWHKITDTCQTLNALNIFEEDS
mutated  all conserved    148QKTWHKITDTCRTLNALNIFEED
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000002459  138QKKWHKITETCQTLNAFNIFE
Mmusculus  not conserved  ENSMUSG00000057899  80AKKWHKVTETCHTLN
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 2127 / 2127
position (AA) of stopcodon in wt / mu AA sequence 709 / 709
position of stopcodon in wt / mu cDNA 2127 / 2127
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 1 / 1
chromosome 6
strand 1
last intron/exon boundary 706
theoretical NMD boundary in CDS 655
length of CDS 2127
coding sequence (CDS) position 443
cDNA position
(for ins/del: last normal base / first normal base)		 443
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 MGLTAYGNRR VQPGELPFGA NLTLIHTRAQ PVICSKLLLT KRVSPISFFL SKFQNSWGED
GWVQLDQLPS PNAVSSDQVH CSAGCTHRKC GWAASKSKEK VPARPHGVCD GVCTDYSQCT
QPCPPDTQGN MGFSCRQKTW HKITDTCQTL NALNIFEEDS RLVQPFEDNI KISVYTGKSE
TITDMLLQKC PTDLSCVIRN IQQSPWIPGN IAVIVQLLHN ISTAIWTGVD EAKMQSYSTI
ANHILNSKSI SNWTFIPDRN SSYILLHSVN SFARRLFIDK HPVDISDVFI HTMGTTISGD
NIGKNFTFSM RINDTSNEVT GRVLISRDEL RKVPSPSQVI SIAFPTIGAI LEASLLENVT
VNGLVLSAIL PKELKRISLI FEKISKSEER RTQCVGWHSV ENRWDQQACK MIQENSQQAV
CKCRPSKLFT SFSILMSPHI LESLILTYIT YVGLGISICS LILCLSIEVL VWSQVTKTEI
TYLRHVCIVN IAATLLMADV WFIVASFLSG PITHHKGCVA ATFFVHFFYL SVFFWMLAKA
LLILYGIMIV FHTLPKSVLV ASLFSVGYGC PLAIAAITVA ATEPGKGYLR PEICWLNWDM
TKALLAFVIP ALAIVVVNLI TVTLVIVKTQ RAAIGNSMFQ EVRAIVRISK NIAILTPLLG
LTWGFGVATV IDDRSLAFHI IFSLLNAFQV SPDASDQVQS ERIHEDVL*
mutated AA sequence MGLTAYGNRR VQPGELPFGA NLTLIHTRAQ PVICSKLLLT KRVSPISFFL SKFQNSWGED
GWVQLDQLPS PNAVSSDQVH CSAGCTHRKC GWAASKSKEK VPARPHGVCD GVCTDYSQCT
QPCPPDTQGN MGFSCRQKTW HKITDTCRTL NALNIFEEDS RLVQPFEDNI KISVYTGKSE
TITDMLLQKC PTDLSCVIRN IQQSPWIPGN IAVIVQLLHN ISTAIWTGVD EAKMQSYSTI
ANHILNSKSI SNWTFIPDRN SSYILLHSVN SFARRLFIDK HPVDISDVFI HTMGTTISGD
NIGKNFTFSM RINDTSNEVT GRVLISRDEL RKVPSPSQVI SIAFPTIGAI LEASLLENVT
VNGLVLSAIL PKELKRISLI FEKISKSEER RTQCVGWHSV ENRWDQQACK MIQENSQQAV
CKCRPSKLFT SFSILMSPHI LESLILTYIT YVGLGISICS LILCLSIEVL VWSQVTKTEI
TYLRHVCIVN IAATLLMADV WFIVASFLSG PITHHKGCVA ATFFVHFFYL SVFFWMLAKA
LLILYGIMIV FHTLPKSVLV ASLFSVGYGC PLAIAAITVA ATEPGKGYLR PEICWLNWDM
TKALLAFVIP ALAIVVVNLI TVTLVIVKTQ RAAIGNSMFQ EVRAIVRISK NIAILTPLLG
LTWGFGVATV IDDRSLAFHI IFSLLNAFQV SPDASDQVQS ERIHEDVL*
speed 0.28 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