Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999933506 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:11886563C>GN/A show variant in all transcripts   IGV
HGNC symbol MPPE1
Ensembl transcript ID ENST00000344987
Genbank transcript ID N/A
UniProt peptide Q53F39
alteration type single base exchange
alteration region CDS
DNA changes c.736G>C
cDNA.1065G>C
g.22660G>C
AA changes A246P Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 246
frameshift no
known variant Reference ID: rs662515
databasehomozygous (G/G)heterozygousallele carriers
1000G73310511784
ExAC87041535924063
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1230.114
2.1830.15
(flanking)-0.8270.121
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased22665wt: 0.8990 / mu: 0.9582 (marginal change - not scored)wt: GCAGAGGAAAGGGAC
mu: CCAGAGGAAAGGGAC		 AGAG|gaaa
Donor marginally increased22662wt: 0.7564 / mu: 0.8282 (marginal change - not scored)wt: CCTGCAGAGGAAAGG
mu: CCTCCAGAGGAAAGG		 TGCA|gagg
Donor marginally increased22664wt: 0.9978 / mu: 0.9986 (marginal change - not scored)wt: TGCAGAGGAAAGGGA
mu: TCCAGAGGAAAGGGA		 CAGA|ggaa
distance from splice site 58
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      246DANCSGEDAAPAEERDIPFKENYD
mutated  not conserved    246EDAAPPEERDIPFKENY
Ptroglodytes  not conserved  ENSPTRG00000009872  260DANCSGEDAAPPEERDIPFKENY
Mmulatta  not conserved  ENSMMUG00000011467  260DANCSGDDAAPPEERDIPFKENY
Fcatus  not conserved  ENSFCAG00000004952  256DANCSGDDAAPLEERDIPFKERY
Mmusculus  not conserved  ENSMUSG00000062526  257DANCSGEDAAPPEERNVPFEEKY
Ggallus  not conserved  ENSGALG00000013794  270DAECSGEDAAPPEEKNIPFKEKY
Trubripes  all identical  ENSTRUG00000009858  257DAGCTGLDAAPAEDRHLLFREKY
Drerio  not conserved  ENSDARG00000045416  253DAMCTGVDTAPLDEQYLLFQERY
Dmelanogaster  not conserved  FBgn0031997  244EHDAPYIE----AFRERF
Celegans  not conserved  B0511.13  223DAECDQVDEQHEIDLKEMYREQW
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1125 / 1125
position (AA) of stopcodon in wt / mu AA sequence 375 / 375
position of stopcodon in wt / mu cDNA 1454 / 1454
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 330 / 330
chromosome 18
strand -1
last intron/exon boundary 1272
theoretical NMD boundary in CDS 892
length of CDS 1125
coding sequence (CDS) position 736
cDNA position
(for ins/del: last normal base / first normal base)		 1065
gDNA position
(for ins/del: last normal base / first normal base)		 22660
chromosomal position
(for ins/del: last normal base / first normal base)		 11886563
original gDNA sequence snippet CTGGGGAAGACGCTGCTCCTGCAGAGGAAAGGGACATCCCA
altered gDNA sequence snippet CTGGGGAAGACGCTGCTCCTCCAGAGGAAAGGGACATCCCA
original cDNA sequence snippet CTGGGGAAGACGCTGCTCCTGCAGAGGAAAGGGACATCCCA
altered cDNA sequence snippet CTGGGGAAGACGCTGCTCCTCCAGAGGAAAGGGACATCCCA
wildtype AA sequence MAMIELGFGR QNFHPLKRKS SLLLKLIAVV FAVLLFCEFL IYYLAIFQCN WPEVKTTASD
GEQTTREPVL KAMFLADTHL LGEFLGHWLD KLRREWQMER AFQTALWLLQ PEVVFILGDI
FDEGKWSTPE AWADDVERFQ KMFRHPSHVQ LKVVAGNHDI GFHYEMNTYK VERFEKVFSS
ERLFSWKGIN FVMVNSVALN GDGCGICSET EAELIEVSHR LNCSREHYPL YRRSDANCSG
EDAAPAEERD IPFKENYDVL SREASQKLLW WLQPRLVLSG HTHSACEVHH GGRVPELSVP
SFSWRNRNNP SFIMGSITPT DYTLSKCYLP REDVVLIIYC GVVGFLVVLT LTHFGLLASP
FLSGLNLLGK RKTR*
mutated AA sequence MAMIELGFGR QNFHPLKRKS SLLLKLIAVV FAVLLFCEFL IYYLAIFQCN WPEVKTTASD
GEQTTREPVL KAMFLADTHL LGEFLGHWLD KLRREWQMER AFQTALWLLQ PEVVFILGDI
FDEGKWSTPE AWADDVERFQ KMFRHPSHVQ LKVVAGNHDI GFHYEMNTYK VERFEKVFSS
ERLFSWKGIN FVMVNSVALN GDGCGICSET EAELIEVSHR LNCSREHYPL YRRSDANCSG
EDAAPPEERD IPFKENYDVL SREASQKLLW WLQPRLVLSG HTHSACEVHH GGRVPELSVP
SFSWRNRNNP SFIMGSITPT DYTLSKCYLP REDVVLIIYC GVVGFLVVLT LTHFGLLASP
FLSGLNLLGK RKTR*
speed 1.14 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