Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.984325930535356 (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) chr16:8729124G>AN/A show variant in all transcripts   IGV
HGNC symbol METTL22
Ensembl transcript ID ENST00000381920
Genbank transcript ID NM_024109
UniProt peptide Q9BUU2
alteration type single base exchange
alteration region CDS
DNA changes c.655G>A
cDNA.913G>A
g.13585G>A
AA changes A219T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 219
frameshift no
known variant Reference ID: rs2302607
databasehomozygous (A/A)heterozygousallele carriers
1000G125688813
ExAC34551992923384
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
CTCF, Transcription Factor, CCCTC-binding factor
phyloP / phastCons
PhyloPPhastCons
(flanking)-2.9160.001
0.2310.152
(flanking)3.630.997
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      219TALELGAGTGLASIIAATMARTVY
mutated  not conserved    219TALELGAGTGLTSIIAATMARTV
Ptroglodytes  all identical  ENSPTRG00000007745  219TALELGAGTGLASIIAATMARTV
Mmulatta  all identical  ENSMMUG00000006900  219TALELGAGTGLASIIAATAARTV
Fcatus  all identical  ENSFCAG00000001434  209TVLELGAGTGLASIIAATVARTV
Mmusculus  all identical  ENSMUSG00000039345  208TVLELGAGTGLASIVAATMAHTV
Ggallus  all identical  ENSGALG00000000305  208TVLELGGGTGIASIIMGTVANRV
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000077863  171TVLELGAGTGLTSIVMAMVAKTV
Dmelanogaster  not conserved  FBgn0037045  107TLMELGAGVGLTSIAAGIHN
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000008690  196TVLELGAGTGFTSIIMAMIAKTV
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1215 / 1215
position (AA) of stopcodon in wt / mu AA sequence 405 / 405
position of stopcodon in wt / mu cDNA 1473 / 1473
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 259 / 259
chromosome 16
strand 1
last intron/exon boundary 1438
theoretical NMD boundary in CDS 1129
length of CDS 1215
coding sequence (CDS) position 655
cDNA position
(for ins/del: last normal base / first normal base)		 913
gDNA position
(for ins/del: last normal base / first normal base)		 13585
chromosomal position
(for ins/del: last normal base / first normal base)		 8729124
original gDNA sequence snippet TCGGGGCCGGCACGGGGCTCGCTAGCATCATCGCAGCCACC
altered gDNA sequence snippet TCGGGGCCGGCACGGGGCTCACTAGCATCATCGCAGCCACC
original cDNA sequence snippet TCGGGGCCGGCACGGGGCTCGCTAGCATCATCGCAGCCACC
altered cDNA sequence snippet TCGGGGCCGGCACGGGGCTCACTAGCATCATCGCAGCCACC
wildtype AA sequence MVQLAPAAAM DEVTFRSDTV LSDVHLYTPN HRHLMVRLNS VGQPVFLSQF KLLWSQDSWT
DSGAKGGSHR DVHTKEPPSA ETGSTGSPPG SGHGNEGFSL QAGTDTTGQE VAEAQLDEDG
DLDVVRRPRA ASDSNPAGPL RDKVHPMILA QEEDDVLGEE AQGSPHDIIR IEHTMATPLE
DVGKQVWRGA LLLADYILFR QDLFRGCTAL ELGAGTGLAS IIAATMARTV YCTDVGADLL
SMCQRNIALN SHLAATGGGI VRVKELDWLK DDLCTDPKVP FSWSQEEISD LYDHTTILFA
AEVFYDDDLT DAVFKTLSRL AHRLKNACTA ILSVEKRLNF TLRHLDVTCE AYDHFRSCLH
ALEQLADGKL RFVVEPVEAS FPQLLVYERL QQLELWKIIA EPVT*
mutated AA sequence MVQLAPAAAM DEVTFRSDTV LSDVHLYTPN HRHLMVRLNS VGQPVFLSQF KLLWSQDSWT
DSGAKGGSHR DVHTKEPPSA ETGSTGSPPG SGHGNEGFSL QAGTDTTGQE VAEAQLDEDG
DLDVVRRPRA ASDSNPAGPL RDKVHPMILA QEEDDVLGEE AQGSPHDIIR IEHTMATPLE
DVGKQVWRGA LLLADYILFR QDLFRGCTAL ELGAGTGLTS IIAATMARTV YCTDVGADLL
SMCQRNIALN SHLAATGGGI VRVKELDWLK DDLCTDPKVP FSWSQEEISD LYDHTTILFA
AEVFYDDDLT DAVFKTLSRL AHRLKNACTA ILSVEKRLNF TLRHLDVTCE AYDHFRSCLH
ALEQLADGKL RFVVEPVEAS FPQLLVYERL QQLELWKIIA EPVT*
speed 0.91 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