Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999228 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:134678253T>AN/A show variant in all transcripts   IGV
HGNC symbol AGBL3
Ensembl transcript ID ENST00000435976
Genbank transcript ID N/A
UniProt peptide Q8NEM8
alteration type single base exchange
alteration region CDS
DNA changes c.134T>A
cDNA.368T>A
g.6995T>A
AA changes F45Y Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 45
frameshift no
known variant Reference ID: rs2348049
databasehomozygous (A/A)heterozygousallele carriers
1000G165818983
ExAC82542035028
regulatory features H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1070
0.2180
(flanking)0.0830
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased6995wt: 0.3129 / mu: 0.3131 (marginal change - not scored)wt: CTTTTTCTCAGCTGACTCTTTTGGTGATCCCTTCTTCCCCC
mu: CTTTTTCTCAGCTGACTCTTATGGTGATCCCTTCTTCCCCC		 cttt|TGGT
Acc marginally increased6992wt: 0.8336 / mu: 0.8557 (marginal change - not scored)wt: AATCTTTTTCTCAGCTGACTCTTTTGGTGATCCCTTCTTCC
mu: AATCTTTTTCTCAGCTGACTCTTATGGTGATCCCTTCTTCC		 actc|TTTT
Acc marginally decreased6985wt: 0.8829 / mu: 0.8352 (marginal change - not scored)wt: GTGTTTGAATCTTTTTCTCAGCTGACTCTTTTGGTGATCCC
mu: GTGTTTGAATCTTTTTCTCAGCTGACTCTTATGGTGATCCC		 tcag|CTGA
Acc marginally increased6998wt: 0.3449 / mu: 0.3521 (marginal change - not scored)wt: TTTCTCAGCTGACTCTTTTGGTGATCCCTTCTTCCCCCGGA
mu: TTTCTCAGCTGACTCTTATGGTGATCCCTTCTTCCCCCGGA		 ttgg|TGAT
distance from splice site 10
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      45LHRCALLTADSFGDPFFPRTTQIL
mutated  all conserved    45LHRCALLTADSYGDPFFPRTTQI
Ptroglodytes  all identical  ENSPTRG00000019722  45LHRCALLTADSFGDPFFPRTTQI
Mmulatta  all identical  ENSMMUG00000006530  45FHRCALLTADSFGDPFFPRTTQI
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000038836  45IHPCTLLAADSIGDPFFPRTTQI
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no alignment  FBgn0052627  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2115 / 2115
position (AA) of stopcodon in wt / mu AA sequence 705 / 705
position of stopcodon in wt / mu cDNA 2349 / 2349
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 235 / 235
chromosome 7
strand 1
last intron/exon boundary 2345
theoretical NMD boundary in CDS 2060
length of CDS 2115
coding sequence (CDS) position 134
cDNA position
(for ins/del: last normal base / first normal base)		 368
gDNA position
(for ins/del: last normal base / first normal base)		 6995
chromosomal position
(for ins/del: last normal base / first normal base)		 134678253
original gDNA sequence snippet CTTTTTCTCAGCTGACTCTTTTGGTGATCCCTTCTTCCCCC
altered gDNA sequence snippet CTTTTTCTCAGCTGACTCTTATGGTGATCCCTTCTTCCCCC
original cDNA sequence snippet ACTTTTAACAGCTGACTCTTTTGGTGATCCCTTCTTCCCCC
altered cDNA sequence snippet ACTTTTAACAGCTGACTCTTATGGTGATCCCTTCTTCCCCC
wildtype AA sequence MSEDSEKEDY SDRTISDEDE SDEDMFMKFV SEDLHRCALL TADSFGDPFF PRTTQILLEY
QLGRWVPRLR EPRDLYGVSS SGPLSPTRWP YHCEVIDEKV QHIDWTPSCP EPVYIPTGLE
TEPLYPDSKE ATVVYLAEDA YKEPCFVYSR VGGNRTPLKQ PVDYRDNTLM FEARFESGNL
QKVVKVAEYE YQLTVRPDLF TNKHTQWYYF QVTNMRAGIV YRFTIVNFTK PASLYSRGMR
PLFYSEKEAK AHHIGWQRIG DQIKYYRNNP GQDGRHYFSL TWTFQFPHNK DTCYFAHCYP
YTYTNLQEYL SGINNDPVRS KFCKIRVLCH TLARNMVYIL TITTPLKNSD SRKRKAVILT
ARVHPGETNS SWIMKGFLDY ILGNSSDAQL LRDTFVFKVV PMLNPDGVIV GNYRCSLAGR
DLNRNYTSLL KESFPSVWYT RNMVHRLMEK REVILYCDLH GHSRKENIFM YGCDGSDRSK
TLYLQQRIFP LMLSKNCPDK FSFSACKFNV QKSKEGTGRV VMWKMGIRNS FTMEATFCGS
TLGNKRGTHF STKDLESMGY HFCDSLLDYC DPDRTKYYRC LKELEEMERH ITLEKVFEDS
DTPVIDITLD VESSSRGSDS SESIDSLTYL LKLTSQKKHL KTKKERNSTI ASHQNARGQE
VYDRGHLLQR HTQSNSDVKD TRPNEPDDYM VDYFRRQLPN QGLV*
mutated AA sequence MSEDSEKEDY SDRTISDEDE SDEDMFMKFV SEDLHRCALL TADSYGDPFF PRTTQILLEY
QLGRWVPRLR EPRDLYGVSS SGPLSPTRWP YHCEVIDEKV QHIDWTPSCP EPVYIPTGLE
TEPLYPDSKE ATVVYLAEDA YKEPCFVYSR VGGNRTPLKQ PVDYRDNTLM FEARFESGNL
QKVVKVAEYE YQLTVRPDLF TNKHTQWYYF QVTNMRAGIV YRFTIVNFTK PASLYSRGMR
PLFYSEKEAK AHHIGWQRIG DQIKYYRNNP GQDGRHYFSL TWTFQFPHNK DTCYFAHCYP
YTYTNLQEYL SGINNDPVRS KFCKIRVLCH TLARNMVYIL TITTPLKNSD SRKRKAVILT
ARVHPGETNS SWIMKGFLDY ILGNSSDAQL LRDTFVFKVV PMLNPDGVIV GNYRCSLAGR
DLNRNYTSLL KESFPSVWYT RNMVHRLMEK REVILYCDLH GHSRKENIFM YGCDGSDRSK
TLYLQQRIFP LMLSKNCPDK FSFSACKFNV QKSKEGTGRV VMWKMGIRNS FTMEATFCGS
TLGNKRGTHF STKDLESMGY HFCDSLLDYC DPDRTKYYRC LKELEEMERH ITLEKVFEDS
DTPVIDITLD VESSSRGSDS SESIDSLTYL LKLTSQKKHL KTKKERNSTI ASHQNARGQE
VYDRGHLLQR HTQSNSDVKD TRPNEPDDYM VDYFRRQLPN QGLV*
speed 1.32 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