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 ENST00000393939
Genbank transcript ID NM_001079871
UniProt peptide P54257
alteration type single base exchange
alteration region CDS
DNA changes c.1247C>T
cDNA.1257C>T
g.7547C>T
AA changes T416M Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 416
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      416GFQETLAEELRTSLRRMISDPVYF
mutated  not conserved    416GFQETLAEELRMSLRR
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000002132  417GGMLTQAQEEVKTLRQQAPGSTDPVTRY
Mmusculus  not conserved  ENSMUSG00000006930  378KGIHSESLRAGSYMQDYGSRPRDRQEDGK
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 1785 / 1785
position (AA) of stopcodon in wt / mu AA sequence 595 / 595
position of stopcodon in wt / mu cDNA 1795 / 1795
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 1342
theoretical NMD boundary in CDS 1281
length of CDS 1785
coding sequence (CDS) position 1247
cDNA position
(for ins/del: last normal base / first normal base)		 1257
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 ETLPGFQETL AEELRTSLRR
MISDPVYFME RNYEMPRGDT SSLRYDFRYS EDREQVRGFE AEEGLMLAAD IMRGEDFTPA
EEFVPQEELG AAKKVPAEEG VMEEAELVSE ETEGWEEVEL ELDEATRMNV VTSALEASGL
GPSHLDMNYV LQQLANWQDA HYRRQLRWKM LQKGECPHGA LPAASRTSCR SSCR*
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 ETLPGFQETL AEELRMSLRR
MISDPVYFME RNYEMPRGDT SSLRYDFRYS EDREQVRGFE AEEGLMLAAD IMRGEDFTPA
EEFVPQEELG AAKKVPAEEG VMEEAELVSE ETEGWEEVEL ELDEATRMNV VTSALEASGL
GPSHLDMNYV LQQLANWQDA HYRRQLRWKM LQKGECPHGA LPAASRTSCR SSCR*
speed 1.09 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