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 ENST00000458078
Genbank transcript ID N/A
UniProt peptide Q8NEM8
alteration type single base exchange
alteration region CDS
DNA changes c.56T>A
cDNA.387T>A
g.6995T>A
AA changes F19Y Score: 22 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 19
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      19LHRCALLTADSFGDPFFPRTTQIL
mutated  all conserved    19LHRCALLTADSYGDPFFPRTTQI
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 2928 / 2928
position (AA) of stopcodon in wt / mu AA sequence 976 / 976
position of stopcodon in wt / mu cDNA 3259 / 3259
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 332 / 332
chromosome 7
strand 1
last intron/exon boundary 2839
theoretical NMD boundary in CDS 2457
length of CDS 2928
coding sequence (CDS) position 56
cDNA position
(for ins/del: last normal base / first normal base)		 387
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 MKFVSEDLHR CALLTADSFG DPFFPRTTQI LLEYQLGRWV PRLREPRDLY GVSSSGPLSP
TRWPYHCEVI DEKVQHIDWT PSCPEPVYIP TGLETEPLYP DSKEATVVYL AEDAYKEPCF
VYSRVGGNRT PLKQPVDYRD NTLMFEARFE SGNLQKVVKV AEYEYQLTVR PDLFTNKHTQ
WYYFQVTNMR AGIVYRFTIV NFTKPASLYS RGMRPLFYSE KEAKAHHIGW QRIGDQIKYY
RNNPGQDGRH YFSLTWTFQF PHNKDTCYFA HCYPYTYTNL QEYLSGINND PVRSKFCKIR
VLCHTLARNM VYILTITTPL KNSDSRKRKA VILTARVHPG ETNSSWIMKG FLDYILGNSS
DAQLLRDTFV FKVVPMLNPD GVIVGNYRCS LAGRDLNRNY TSLLKESFPS VWYTRNMVHR
LMEKREVILY CDLHGHSRKE NIFMYGCDGS DRSKTLYLQQ RIFPLMLSKN CPDKFSFSAC
KFNVQKSKEG TGRVVMWKMG IRNSFTMEAT FCGSTLGNKR GTHFSTKDLE SMGYHFCDSL
LDYCDPDRTK YYRCLKELEE MERHITLEKV FEDSDTPVID ITLDVESSSR GSDSSESIDS
LTYLLKLTSQ KKHLKTKKER NSTIASHQNA RGQEVYDRGH LLQRHTQSNS DVKDTRPNEP
DDYMVDYFRR QLPNQGLAHC KLRLPGSRHS PASASRVAGT TGTRHHTWLI FVFLVEMGKK
IPLKGTDLYG NCFKVTSLQS PMGKQTSTWT EKTRIPTEDL HHNLKSKIKE CISFQSKKTG
INWTDDEKRS YKDKGIVQTQ EILQYLLPIV HSTKNMQTTQ IKQLFNPRTN FQIQHQLNPA
TCRNIKKYST SWTAPRNHPF VIQGDVMANS SEWVQSKPHR SLESLSPLKG PKKNKHSQIW
AIKNEDIKPL SSKWETASSS FGMDANVLKY KSLQAEETNQ QSSKHTALHL TKNKDEQANK
NDGQPTLYLK FQRES*
mutated AA sequence MKFVSEDLHR CALLTADSYG DPFFPRTTQI LLEYQLGRWV PRLREPRDLY GVSSSGPLSP
TRWPYHCEVI DEKVQHIDWT PSCPEPVYIP TGLETEPLYP DSKEATVVYL AEDAYKEPCF
VYSRVGGNRT PLKQPVDYRD NTLMFEARFE SGNLQKVVKV AEYEYQLTVR PDLFTNKHTQ
WYYFQVTNMR AGIVYRFTIV NFTKPASLYS RGMRPLFYSE KEAKAHHIGW QRIGDQIKYY
RNNPGQDGRH YFSLTWTFQF PHNKDTCYFA HCYPYTYTNL QEYLSGINND PVRSKFCKIR
VLCHTLARNM VYILTITTPL KNSDSRKRKA VILTARVHPG ETNSSWIMKG FLDYILGNSS
DAQLLRDTFV FKVVPMLNPD GVIVGNYRCS LAGRDLNRNY TSLLKESFPS VWYTRNMVHR
LMEKREVILY CDLHGHSRKE NIFMYGCDGS DRSKTLYLQQ RIFPLMLSKN CPDKFSFSAC
KFNVQKSKEG TGRVVMWKMG IRNSFTMEAT FCGSTLGNKR GTHFSTKDLE SMGYHFCDSL
LDYCDPDRTK YYRCLKELEE MERHITLEKV FEDSDTPVID ITLDVESSSR GSDSSESIDS
LTYLLKLTSQ KKHLKTKKER NSTIASHQNA RGQEVYDRGH LLQRHTQSNS DVKDTRPNEP
DDYMVDYFRR QLPNQGLAHC KLRLPGSRHS PASASRVAGT TGTRHHTWLI FVFLVEMGKK
IPLKGTDLYG NCFKVTSLQS PMGKQTSTWT EKTRIPTEDL HHNLKSKIKE CISFQSKKTG
INWTDDEKRS YKDKGIVQTQ EILQYLLPIV HSTKNMQTTQ IKQLFNPRTN FQIQHQLNPA
TCRNIKKYST SWTAPRNHPF VIQGDVMANS SEWVQSKPHR SLESLSPLKG PKKNKHSQIW
AIKNEDIKPL SSKWETASSS FGMDANVLKY KSLQAEETNQ QSSKHTALHL TKNKDEQANK
NDGQPTLYLK FQRES*
speed 1.35 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