Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.226674000883126 (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 ENST00000507065
Genbank transcript ID N/A
UniProt peptide Q8IZF7
alteration type single base exchange
alteration region CDS
DNA changes c.1195A>G
cDNA.1473A>G
g.25523A>G
AA changes I399V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 399
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      399ISICSLILCLSIEVLVWSQVTKTE
mutated  all conserved    399ISICSLILCLSVEVLVWSQVTKT
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 
1451TOPO_DOMExtracellular (Potential).lost
391441DOMAINGPS.lost
427427CONFLICTK -> E (in Ref. 3; ABC41928).might get lost (downstream of altered splice site)
452472TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
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 1923 / 1923
position (AA) of stopcodon in wt / mu AA sequence 641 / 641
position of stopcodon in wt / mu cDNA 2201 / 2201
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 279 / 279
chromosome 6
strand 1
last intron/exon boundary 780
theoretical NMD boundary in CDS 451
length of CDS 1923
coding sequence (CDS) position 1195
cDNA position
(for ins/del: last normal base / first normal base)		 1473
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 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 QVSPDASDQV QSERIHEDVL *
mutated 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 CSLILCLSVE VLVWSQVTKT EITYLRHVCI
VNIAATLLMA DVWFIVASFL SGPITHHKGC VAATFFVHFF YLSVFFWMLA KALLILYGIM
IVFHTLPKSV LVASLFSVGY GCPLAIAAIT VAATEPGKGY LRPEICWLNW DMTKALLAFV
IPALAIVVVN LITVTLVIVK TQRAAIGNSM FQEVRAIVRI SKNIAILTPL LGLTWGFGVA
TVIDDRSLAF HIIFSLLNAF QVSPDASDQV QSERIHEDVL *
speed 0.25 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