Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.216576866854049 (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) chr6:47649694A>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.1399A>G
cDNA.1399A>G
g.25523A>G
AA changes I467V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 467
frameshift no
known variant Reference ID: rs9381594
databasehomozygous (G/G)heterozygousallele carriers
1000G73811331871
ExAC22412-1205710355
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1220.996
3.1271
(flanking)4.7971
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased25519wt: 0.23 / mu: 0.32wt: TGCAGCCTGATCCTTTGCTTGTCCATTGAGGTCCTAGTCTG
mu: TGCAGCCTGATCCTTTGCTTGTCCGTTGAGGTCCTAGTCTG		 cttg|TCCA
Acc increased25515wt: 0.28 / mu: 0.35wt: TATTTGCAGCCTGATCCTTTGCTTGTCCATTGAGGTCCTAG
mu: TATTTGCAGCCTGATCCTTTGCTTGTCCGTTGAGGTCCTAG		 tttg|CTTG
Acc marginally increased25522wt: 0.9758 / mu: 0.9872 (marginal change - not scored)wt: AGCCTGATCCTTTGCTTGTCCATTGAGGTCCTAGTCTGGAG
mu: AGCCTGATCCTTTGCTTGTCCGTTGAGGTCCTAGTCTGGAG		 gtcc|ATTG
Acc increased25534wt: 0.24 / mu: 0.27wt: TGCTTGTCCATTGAGGTCCTAGTCTGGAGCCAAGTGACAAA
mu: TGCTTGTCCGTTGAGGTCCTAGTCTGGAGCCAAGTGACAAA		 ccta|GTCT
Donor increased25522wt: 0.20 / mu: 0.98wt: TTGTCCATTGAGGTC
mu: TTGTCCGTTGAGGTC		 GTCC|attg
distance from splice site 694
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      467ISICSLILCLSIEVLVWSQVTKTE
mutated  all conserved    467ISICSLILCLSVEVLVWSQVTKT
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000002459  457ISICSLILCLSIEALVWGQV
Mmusculus  all identical  ENSMUSG00000057899  402ISICSLIICLAIEVLVWSQVTKT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0039818  524LSLLGILGIFLTAALFKSWRSQA
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
452472TRANSMEMHelical; Name=1; (Potential).lost
473487TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
488508TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
509530TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
531551TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
552557TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
558578TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
579606TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
607627TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
628650TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
651671TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
672674TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
675695TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
696708TOPO_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 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 1399
cDNA position
(for ins/del: last normal base / first normal base)		 1399
gDNA position
(for ins/del: last normal base / first normal base)		 25523
chromosomal position
(for ins/del: last normal base / first normal base)		 47649694
original gDNA sequence snippet GCCTGATCCTTTGCTTGTCCATTGAGGTCCTAGTCTGGAGC
altered gDNA sequence snippet GCCTGATCCTTTGCTTGTCCGTTGAGGTCCTAGTCTGGAGC
original cDNA sequence snippet GCCTGATCCTTTGCTTGTCCATTGAGGTCCTAGTCTGGAGC
altered cDNA sequence snippet GCCTGATCCTTTGCTTGTCCGTTGAGGTCCTAGTCTGGAGC
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 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 LILCLSVEVL 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 1.01 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