Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999995832 (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 ENST00000341193
Genbank transcript ID NM_001079870
UniProt peptide P54257
alteration type single base exchange
alteration region CDS
DNA changes c.1271C>T
cDNA.1281C>T
g.7547C>T
AA changes T424M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 424
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      424GFQETLAEELRTSLRRMISDPVYF
mutated  not conserved    424ELRMSLRRMISDPVY
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000002132  409GGMLTQAQEEVKTLRQQAPGSTD
Mmusculus  not conserved  ENSMUSG00000006930  377SEKGIHSESLRAGSYMQDYGSRPRDRQEDGK
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000074508  266TENEELTQHLNAS
Dmelanogaster  no alignment  FBgn0262872  n/a
Celegans  all identical  T27A3.1  291NFAETESELNKLRSTGNLRMSYDSL
Xtropicalis  no alignment  ENSXETG00000012489  n/a
protein features
start (aa)end (aa)featuredetails 
106461DOMAINHAP1 N-terminal.lost
261601COMPBIASGlu-rich.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1809 / 1809
position (AA) of stopcodon in wt / mu AA sequence 603 / 603
position of stopcodon in wt / mu cDNA 1819 / 1819
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 1366
theoretical NMD boundary in CDS 1305
length of CDS 1809
coding sequence (CDS) position 1271
cDNA position
(for ins/del: last normal base / first normal base)		 1281
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
LEEVCTAFLI QLLPPVWESV TYGMVLQRER DLNTAARIGQ SLVKQNSVLM EENSKLEALL
GSAKEEILYL RHQVNLRDEL LQLYSDSDEE DEDEEEEEEE KEAEEEQEEE EAEEDLQCAH
PCDAPKLISQ EALLHQHHCP QLEALQEKLR LLEEENHQLR EEASQLDTLE DEEQMLILEC
VEQFSEASQQ MAELSEVLVL RLENYERQQQ EVARLQAQVL KLQQRCRMET LPGFQETLAE
ELRTSLRRMI SDPVYFMERN YEMPRGDTSS LRYDFRYSED REQVRGFEAE EGLMLAADIM
RGEDFTPAEE FVPQEELGAA KKVPAEEGVM EEAELVSEET EGWEEVELEL DEATRMNVVT
SALEASGLGP SHLDMNYVLQ QLANWQDAHY RRQLRWKMLQ KGECPHGALP AASRTSCRSS
CR*
mutated AA sequence MRPKRLGRCC AGSRLGPGDP AALTCAPSPS ASPAPEPSAQ PQARGTGQRV GSRATSGSQF
LSEARTGARP ASEAGAKAGA RRPSAFSAIQ GDVRSMPDNS DAPWTRFVFQ GPFGSRATGR
GTGKAAGIWK TPAAYVGRRP GVSGPERAAF IRELEEALCP NLPPPVKKIT QEDVKVMLYL
LEEVCTAFLI QLLPPVWESV TYGMVLQRER DLNTAARIGQ SLVKQNSVLM EENSKLEALL
GSAKEEILYL RHQVNLRDEL LQLYSDSDEE DEDEEEEEEE KEAEEEQEEE EAEEDLQCAH
PCDAPKLISQ EALLHQHHCP QLEALQEKLR LLEEENHQLR EEASQLDTLE DEEQMLILEC
VEQFSEASQQ MAELSEVLVL RLENYERQQQ EVARLQAQVL KLQQRCRMET LPGFQETLAE
ELRMSLRRMI SDPVYFMERN YEMPRGDTSS LRYDFRYSED REQVRGFEAE EGLMLAADIM
RGEDFTPAEE FVPQEELGAA KKVPAEEGVM EEAELVSEET EGWEEVELEL DEATRMNVVT
SALEASGLGP SHLDMNYVLQ QLANWQDAHY RRQLRWKMLQ KGECPHGALP AASRTSCRSS
CR*
speed 1.15 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