Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999677 (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 ENST00000410032
Genbank transcript ID N/A
UniProt peptide Q9BV36
alteration type single base exchange
alteration region CDS
DNA changes c.692T>C
cDNA.1085T>C
g.54937T>C
AA changes V231A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 231
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      231ARDSPQGLGAGVRTEADVEEEALR
mutated  not conserved    231ARDSPQGLGAGARTEADVEEE
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000012089  118ASSESQGLGAGVHTEADVEEETL
Fcatus  no alignment  ENSFCAG00000012722  n/a
Mmusculus  not conserved  ENSMUSG00000026303  229SAHSLQSLSGEPYSEDTTSL
Ggallus  not conserved  ENSGALG00000003904  231AINSPDAFQSFPDFSGPPEDA
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000070991  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000032232  250GRDATSQKESLIAEADLASMFHHILQEQGQNAASPEQEFSTEVRLTVNSR
protein features
start (aa)end (aa)featuredetails 
253253CONFLICTG -> R (in Ref. 1; AK225381).might get lost (downstream of altered splice site)
314314MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
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 1374 / 1374
position (AA) of stopcodon in wt / mu AA sequence 458 / 458
position of stopcodon in wt / mu cDNA 1767 / 1767
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 394 / 394
chromosome 2
strand 1
last intron/exon boundary 1741
theoretical NMD boundary in CDS 1297
length of CDS 1374
coding sequence (CDS) position 692
cDNA position
(for ins/del: last normal base / first normal base)		 1085
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 ACAGGGTCTAGGTGCTGGAGTGCGCACGGAGGCCGATGTAG
altered cDNA sequence snippet ACAGGGTCTAGGTGCTGGAGCGCGCACGGAGGCCGATGTAG
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 RDSPQGLGAG VRTEADVEEE
ALRRKLEELT SNVSDQETSS EEEEAKDEKA EPNRDKSVGP LPQADPEVGT AAHQTNRQEK
SPQDPGDPVQ YNRTTDEELS ELEDRVAVTA SEVQQAESEV SDIESRIAAL RAAGLTVKPS
GKPRRKSNLP IFLPRVAGKL GKRPEDPNAD PSSEAKAMAV PYLLRRKFSN SLKSQGKDDD
SFDRKSVYRG SLTQRNPNAR KGMASHTFAK PVVAHQS*
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 RDSPQGLGAG ARTEADVEEE
ALRRKLEELT SNVSDQETSS EEEEAKDEKA EPNRDKSVGP LPQADPEVGT AAHQTNRQEK
SPQDPGDPVQ YNRTTDEELS ELEDRVAVTA SEVQQAESEV SDIESRIAAL RAAGLTVKPS
GKPRRKSNLP IFLPRVAGKL GKRPEDPNAD PSSEAKAMAV PYLLRRKFSN SLKSQGKDDD
SFDRKSVYRG SLTQRNPNAR KGMASHTFAK PVVAHQS*
speed 1.12 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