Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999997359 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:238449007T>CN/A show variant in all transcripts   IGV
HGNC symbol MLPH
Ensembl transcript ID ENST00000338530
Genbank transcript ID NM_001042467
UniProt peptide Q9BV36
alteration type single base exchange
alteration region CDS
DNA changes c.1037T>C
cDNA.1248T>C
g.54937T>C
AA changes V346A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 346
frameshift no
known variant Reference ID: rs3817362
databasehomozygous (C/C)heterozygousallele carriers
1000G6149331547
ExAC56081825623864
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.7210
-0.020
(flanking)-0.1940
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased54941wt: 0.26 / mu: 0.45wt: GTGCGCACGGAGGCC
mu: GCGCGCACGGAGGCC		 GCGC|acgg
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      346ASSESQGLGAGVRTEADVEEEALR
mutated  not conserved    346ASSESQGLGAGARTEADVEEEAL
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000012089  121VHTEADVEEETL
Fcatus  not conserved  ENSFCAG00000012722  345XXXXXXHLTGHQPTDADREE
Mmusculus  not conserved  ENSMUSG00000026303  345TVPETQILELNKRMSAVEHLLVHLE
Ggallus  not conserved  ENSGALG00000003904  363RLEEKLLVRSAESPATESQLDPDAEEEEL
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000070991  323NELSKRMSAIESLLNRLEEKITVPSDQPALPPAGHMEEEKL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000032232  359SGGQSTGPGVHTDADIEEETL
protein features
start (aa)end (aa)featuredetails 
373496COILEDPotential.might get lost (downstream of altered splice site)
458458MOD_RESPhosphothreonine (By similarity).might get lost (downstream of altered splice site)
552552MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
577577CONFLICTQ -> R (in Ref. 1; BAB13984).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1719 / 1719
position (AA) of stopcodon in wt / mu AA sequence 573 / 573
position of stopcodon in wt / mu cDNA 1930 / 1930
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 212 / 212
chromosome 2
strand 1
last intron/exon boundary 1904
theoretical NMD boundary in CDS 1642
length of CDS 1719
coding sequence (CDS) position 1037
cDNA position
(for ins/del: last normal base / first normal base)		 1248
gDNA position
(for ins/del: last normal base / first normal base)		 54937
chromosomal position
(for ins/del: last normal base / first normal base)		 238449007
original gDNA sequence snippet TCAGGGTCTAGGTGCTGGAGTGCGCACGGAGGCCGATGTAG
altered gDNA sequence snippet TCAGGGTCTAGGTGCTGGAGCGCGCACGGAGGCCGATGTAG
original cDNA sequence snippet TCAGGGTCTAGGTGCTGGAGTGCGCACGGAGGCCGATGTAG
altered cDNA sequence snippet TCAGGGTCTAGGTGCTGGAGCGCGCACGGAGGCCGATGTAG
wildtype AA sequence MGKKLDLSKL TDEEAQHVLE VVQRDFDLRR KEEERLEALK GKIKKESSKR ELLSDTAHLN
ETHCARCLQP YQLLVNSKRQ CLECGLFTCK SCGRVHPEEQ GWICDPCHLA RVVKIGSLEW
YYEHVKARFK RFGSAKVIRS LHGRLQGGAG PELISEERSG DSDQTDEDGE PGSEAQAQAQ
PFGSKKKRLL SVHDFDFEGD SDDSTQPQGH SLHLSSVPEA RDSPQSLTDE SCSEKAAPHK
AEGLEEADTG ASGCHSHPEE QPTSISPSRH GALAELCPPG GSHRMALGTA AALGSNVIRN
EQLPLQYLAD VDTSDEESIR AHVMASHHSK RRGRASSESQ GLGAGVRTEA DVEEEALRRK
LEELTSNVSD QETSSEEEEA KDEKAEPNRD KSVGPLPQAD PEVGTAAHQT NRQEKSPQDP
GDPVQYNRTT DEELSELEDR VAVTASEVQQ AESEVSDIES RIAALRAAGL TVKPSGKPRR
KSNLPIFLPR VAGKLGKRPE DPNADPSSEA KAMAVPYLLR RKFSNSLKSQ GKDDDSFDRK
SVYRGSLTQR NPNARKGMAS HTFAKPVVAH QS*
mutated AA sequence MGKKLDLSKL TDEEAQHVLE VVQRDFDLRR KEEERLEALK GKIKKESSKR ELLSDTAHLN
ETHCARCLQP YQLLVNSKRQ CLECGLFTCK SCGRVHPEEQ GWICDPCHLA RVVKIGSLEW
YYEHVKARFK RFGSAKVIRS LHGRLQGGAG PELISEERSG DSDQTDEDGE PGSEAQAQAQ
PFGSKKKRLL SVHDFDFEGD SDDSTQPQGH SLHLSSVPEA RDSPQSLTDE SCSEKAAPHK
AEGLEEADTG ASGCHSHPEE QPTSISPSRH GALAELCPPG GSHRMALGTA AALGSNVIRN
EQLPLQYLAD VDTSDEESIR AHVMASHHSK RRGRASSESQ GLGAGARTEA DVEEEALRRK
LEELTSNVSD QETSSEEEEA KDEKAEPNRD KSVGPLPQAD PEVGTAAHQT NRQEKSPQDP
GDPVQYNRTT DEELSELEDR VAVTASEVQQ AESEVSDIES RIAALRAAGL TVKPSGKPRR
KSNLPIFLPR VAGKLGKRPE DPNADPSSEA KAMAVPYLLR RKFSNSLKSQ GKDDDSFDRK
SVYRGSLTQR NPNARKGMAS HTFAKPVVAH QS*
speed 1.13 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