Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999992755 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM088454)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:39883350G>AN/A show variant in all transcripts   IGV
HGNC symbol HAP1
Ensembl transcript ID ENST00000310778
Genbank transcript ID N/A
UniProt peptide P54257
alteration type single base exchange
alteration region CDS
DNA changes c.1478C>T
cDNA.1488C>T
g.7547C>T
AA changes T493M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 493
frameshift no
known variant Reference ID: rs4523977
databasehomozygous (A/A)heterozygousallele carriers
1000G139718857
ExAC27221679919521

known disease mutation at this position, please check HGMD for details (HGMD ID CM088454)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.6180
-0.7190.002
(flanking)0.3620.118
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 46
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      493GFQETLAEELRTSLRRMISDPVYF
mutated  not conserved    493GFQETLAEELRMSLRRMISDPVY
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000002132  481GFQEALGEELRRSIR-IISDPVF
Mmusculus  all identical  ENSMUSG00000006930  435SFPETLAEELRTSLRKFITDPAY
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000074508  336--MDSLAAEIEGTFRKGLD
Dmelanogaster  no alignment  FBgn0262872  n/a
Celegans  not conserved  T27A3.1  204--QLDYTNDKVISLQKLIEQKTT
Xtropicalis  not conserved  ENSXETG00000012489  448SLAAEIEGTMRKGI
protein features
start (aa)end (aa)featuredetails 
261601COMPBIASGlu-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2016 / 2016
position (AA) of stopcodon in wt / mu AA sequence 672 / 672
position of stopcodon in wt / mu cDNA 2026 / 2026
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 11 / 11
chromosome 17
strand -1
last intron/exon boundary 1573
theoretical NMD boundary in CDS 1512
length of CDS 2016
coding sequence (CDS) position 1478
cDNA position
(for ins/del: last normal base / first normal base)		 1488
gDNA position
(for ins/del: last normal base / first normal base)		 7547
chromosomal position
(for ins/del: last normal base / first normal base)		 39883350
original gDNA sequence snippet GCTGGCTGAGGAGCTCAGAACGTCTCTAAGGAGGATGATCT
altered gDNA sequence snippet GCTGGCTGAGGAGCTCAGAATGTCTCTAAGGAGGATGATCT
original cDNA sequence snippet GCTGGCTGAGGAGCTCAGAACGTCTCTAAGGAGGATGATCT
altered cDNA sequence snippet GCTGGCTGAGGAGCTCAGAATGTCTCTAAGGAGGATGATCT
wildtype AA sequence MRPKRLGRCC AGSRLGPGDP AALTCAPSPS ASPAPEPSAQ PQARGTGQRV GSRATSGSQF
LSEARTGARP ASEAGAKAGA RRPSAFSAIQ GDVRSMPDNS DAPWTRFVFQ GPFGSRATGR
GTGKAAGIWK TPAAYVGRRP GVSGPERAAF IRELEEALCP NLPPPVKKIT QEDVKVMLYL
LEELLPPVWE SVTYGMVLQR ERDLNTAARI GQSLVKQNSV LMEENSKLEA LLGSAKEEIL
YLRHQVNLRD ELLQLYSDSD EEDEDEEEEE EEKEAEEEQE EEEAEEDLQC AHPCDAPKLI
SQEALLHQHH CPQLEALQEK LRLLEEENHQ LREEASQLDT LEDEEQMLIL ECVEQFSEAS
QQMAELSEVL VLRLENYERQ QQEVARLQAQ VLKLQQRCRM YGAETEKLQK QLASEKEIQM
QLQEESVWVG SQLQDLREKY MDCGGMLIEM QEEVKTLRQQ PPVSTGSATH YPYSVPLETL
PGFQETLAEE LRTSLRRMIS DPVYFMERNY EMPRGDTSSL RYDFRYSEDR EQVRGFEAEE
GLMLAADIMR GEDFTPAEEF VPQEELGAAK KVPAEEGVME EAELVSEETE GWEEVELELD
EATRMNVVTS ALEASGLGPS HLDMNYVLQQ LANWQDAHYR RQLRWKMLQK GECPHGALPA
ASRTSCRSSC R*
mutated AA sequence MRPKRLGRCC AGSRLGPGDP AALTCAPSPS ASPAPEPSAQ PQARGTGQRV GSRATSGSQF
LSEARTGARP ASEAGAKAGA RRPSAFSAIQ GDVRSMPDNS DAPWTRFVFQ GPFGSRATGR
GTGKAAGIWK TPAAYVGRRP GVSGPERAAF IRELEEALCP NLPPPVKKIT QEDVKVMLYL
LEELLPPVWE SVTYGMVLQR ERDLNTAARI GQSLVKQNSV LMEENSKLEA LLGSAKEEIL
YLRHQVNLRD ELLQLYSDSD EEDEDEEEEE EEKEAEEEQE EEEAEEDLQC AHPCDAPKLI
SQEALLHQHH CPQLEALQEK LRLLEEENHQ LREEASQLDT LEDEEQMLIL ECVEQFSEAS
QQMAELSEVL VLRLENYERQ QQEVARLQAQ VLKLQQRCRM YGAETEKLQK QLASEKEIQM
QLQEESVWVG SQLQDLREKY MDCGGMLIEM QEEVKTLRQQ PPVSTGSATH YPYSVPLETL
PGFQETLAEE LRMSLRRMIS DPVYFMERNY EMPRGDTSSL RYDFRYSEDR EQVRGFEAEE
GLMLAADIMR GEDFTPAEEF VPQEELGAAK KVPAEEGVME EAELVSEETE GWEEVELELD
EATRMNVVTS ALEASGLGPS HLDMNYVLQQ LANWQDAHYR RQLRWKMLQK GECPHGALPA
ASRTSCRSSC R*
speed 1.33 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