Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999907562162 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:110300441G>AN/A show variant in all transcripts   IGV
HGNC symbol EPS8L3
Ensembl transcript ID ENST00000369805
Genbank transcript ID NM_139053
UniProt peptide Q8TE67
alteration type single base exchange
alteration region CDS
DNA changes c.880C>T
cDNA.1110C>T
g.6209C>T
AA changes H294Y Score: 83 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 294
frameshift no
known variant Reference ID: rs3818562
databasehomozygous (A/A)heterozygousallele carriers
1000G68010101690
ExAC15183240117584
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4620.981
0.1940.985
(flanking)1.70.999
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6202wt: 0.9848 / mu: 0.9903 (marginal change - not scored)wt: CAGAAGATCAAGCAC
mu: CAGAAGATCAAGTAC		 GAAG|atca
distance from splice site 18
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      294AQYIDCFQKIKHSFNLLGRLATWL
mutated  all conserved    294AQYIDCFQKIKYSFNLLG
Ptroglodytes  all conserved  ENSPTRG00000001065  294AQYIDCFQKIKYSFNLLG
Mmulatta  all conserved  ENSMMUG00000008030  294AQYIDCFQKIKYSFNLL
Fcatus  all conserved  ENSFCAG00000015600  322AQYIDCFQKVKYSFNLLGKLAIW
Mmusculus  not conserved  ENSMUSG00000040600  302IKLSFNLLGKLALR
Ggallus  no homologue    
Trubripes  all conserved  ENSTRUG00000006845  312EEYIFFLQKVKYGFNLLAQLEGV
Drerio  not conserved  ENSDARG00000077296  346EEFTVCLRKIKMAFNLLGKLQGK
Dmelanogaster  not conserved  FBgn0029095  395KEFVDIFAKFKLSFNLLAKLKAH
Celegans  not conserved  Y57G11C.24  329SEFVDILKKFKLSFNLL
Xtropicalis  all conserved  ENSXETG00000002019  296KAKYAFILMGNVHEQ
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1785 / 1785
position (AA) of stopcodon in wt / mu AA sequence 595 / 595
position of stopcodon in wt / mu cDNA 2015 / 2015
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 231 / 231
chromosome 1
strand -1
last intron/exon boundary 2004
theoretical NMD boundary in CDS 1723
length of CDS 1785
coding sequence (CDS) position 880
cDNA position
(for ins/del: last normal base / first normal base)		 1110
gDNA position
(for ins/del: last normal base / first normal base)		 6209
chromosomal position
(for ins/del: last normal base / first normal base)		 110300441
original gDNA sequence snippet ACTGCTTCCAGAAGATCAAGCACAGCTTCAACCTCCTGGTA
altered gDNA sequence snippet ACTGCTTCCAGAAGATCAAGTACAGCTTCAACCTCCTGGTA
original cDNA sequence snippet ACTGCTTCCAGAAGATCAAGCACAGCTTCAACCTCCTGGGA
altered cDNA sequence snippet ACTGCTTCCAGAAGATCAAGTACAGCTTCAACCTCCTGGGA
wildtype AA sequence MSRPSSRAIY LHRKEYSQNL TSEPTLLQHR VEHLMTCKQG SQRVQGPEDA LQKLFEMDAQ
GRVWSQDLIL QVRDGWLQLL DIETKEELDS YRLDSIQAMN VALNTCSYNS ILSITVQEPG
LPGTSTLLFQ CQEVGAERLK TSLQKALEEE LEQSRPRLGG LQPGQDRWRG PAMERPLPME
QARYLEPGIP PEQPHQRTLE HSLPPSPRPL PRHTSAREPS AFTLPPPRRS SSPEDPERDE
EVLNHVLRDI ELFMGKLEKA QAKTSRKKKF GKKNKDQGGL TQAQYIDCFQ KIKHSFNLLG
RLATWLKETS APELVHILFK SLNFILARCP EAGLAAQVIS PLLTPKAINL LQSCLSPPES
NLWMGLGPAW TTSRADWTGD EPLPYQPTFS DDWQLPEPSS QAPLGYQDPV SLRRGSHRLG
STSHFPQEKT HNHDPQPGDP NSRPSSPKPA QPALKMQVLY EFEARNPREL TVVQGEKLEV
LDHSKRWWLV KNEAGRSGYI PSNILEPLQP GTPGTQGQSP SRVPMLRLSS RPEEVTDWLQ
AENFSTATVR TLGSLTGSQL LRIRPGELQM LCPQEAPRIL SRLEAVRRML GISP*
mutated AA sequence MSRPSSRAIY LHRKEYSQNL TSEPTLLQHR VEHLMTCKQG SQRVQGPEDA LQKLFEMDAQ
GRVWSQDLIL QVRDGWLQLL DIETKEELDS YRLDSIQAMN VALNTCSYNS ILSITVQEPG
LPGTSTLLFQ CQEVGAERLK TSLQKALEEE LEQSRPRLGG LQPGQDRWRG PAMERPLPME
QARYLEPGIP PEQPHQRTLE HSLPPSPRPL PRHTSAREPS AFTLPPPRRS SSPEDPERDE
EVLNHVLRDI ELFMGKLEKA QAKTSRKKKF GKKNKDQGGL TQAQYIDCFQ KIKYSFNLLG
RLATWLKETS APELVHILFK SLNFILARCP EAGLAAQVIS PLLTPKAINL LQSCLSPPES
NLWMGLGPAW TTSRADWTGD EPLPYQPTFS DDWQLPEPSS QAPLGYQDPV SLRRGSHRLG
STSHFPQEKT HNHDPQPGDP NSRPSSPKPA QPALKMQVLY EFEARNPREL TVVQGEKLEV
LDHSKRWWLV KNEAGRSGYI PSNILEPLQP GTPGTQGQSP SRVPMLRLSS RPEEVTDWLQ
AENFSTATVR TLGSLTGSQL LRIRPGELQM LCPQEAPRIL SRLEAVRRML GISP*
speed 0.58 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