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MutationTaster - study a chromosomal position

 MTQE documentation
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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000361640
MT speed 0 s - this script 2.914099 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
AKR7A3polymorphism_automatic1.60406172600158e-06simple_aaeN215Dsingle base exchangers1738023show file

Taster files

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Prediction

polymorphism

 Model: simple_aae, prob: 0.999998395938274 (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 CM062419)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:19611241T>CN/A show variant in all transcripts   IGV
HGNC symbol AKR7A3
Ensembl transcript ID ENST00000361640
Genbank transcript ID NM_012067
UniProt peptide O95154
alteration type single base exchange
alteration region CDS
DNA changes c.643A>G
cDNA.1184A>G
g.4504A>G
AA changes N215D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 215
frameshift no
known variant Reference ID: rs1738023
databasehomozygous (C/C)heterozygousallele carriers
1000G16786892367
ExAC---

known disease mutation at this position, please check HGMD for details (HGMD ID CM062419)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.6580.958
1.8310.997
(flanking)1.3851
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 39
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      215LLTGKYKYEDKNGKQPVGRFFGNT
mutated  all conserved    215LLTGKYKYEDKDGKQPVGRFFGN
Ptroglodytes  all conserved  ENSPTRG00000000264  143LLTGKYKYEDKDGKQPVGRFFGN
Mmulatta  all conserved  ENSMMUG00000006891  215LLTGRYKYEDKDRKQPVSRFFGN
Fcatus  all conserved  ENSFCAG00000008773  241LLTGKYKYEDKDGKQPIGRFFGN
Mmusculus  no homologue    
Ggallus  all conserved  ENSGALG00000004005  251LLTGKYKYEDKDTRQPTGRFFGN
Trubripes  all conserved  ENSTRUG00000015415  238LLTGKYHYEDKDLSQPTGRFFGN
Drerio  all conserved  ENSDARG00000016649  207LLTGKYHYEDKDGAQPAGRFFGN
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000017615  238LLTGRYKYEDKEKEQASCRFFGN
protein features
start (aa)end (aa)featuredetails 
215217TURNlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 996 / 996
position (AA) of stopcodon in wt / mu AA sequence 332 / 332
position of stopcodon in wt / mu cDNA 1537 / 1537
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 542 / 542
chromosome 1
strand -1
last intron/exon boundary 1376
theoretical NMD boundary in CDS 784
length of CDS 996
coding sequence (CDS) position 643
cDNA position
(for ins/del: last normal base / first normal base)		 1184
gDNA position
(for ins/del: last normal base / first normal base)		 4504
chromosomal position
(for ins/del: last normal base / first normal base)		 19611241
original gDNA sequence snippet AGTACAAGTATGAGGACAAGAATGGGAAACAGCCCGTGGGC
altered gDNA sequence snippet AGTACAAGTATGAGGACAAGGATGGGAAACAGCCCGTGGGC
original cDNA sequence snippet AGTACAAGTATGAGGACAAGAATGGGAAACAGCCCGTGGGC
altered cDNA sequence snippet AGTACAAGTATGAGGACAAGGATGGGAAACAGCCCGTGGGC
wildtype AA sequence MSRQLSRARP ATVLGAMEMG RRMDAPTSAA VTRAFLERGH TEIDTAFVYS EGQSETILGG
LGLRLGGSDC RVKIDTKAIP LFGNSLKPDS LRFQLETSLK RLQCPRVDLF YLHMPDHSTP
VEETLRACHQ LHQEGKFVEL GLSNYAAWEV AEICTLCKSN GWILPTVYQG MYNAITRQVE
TELFPCLRHF GLRFYAFNPL AGGLLTGKYK YEDKNGKQPV GRFFGNTWAE MYRNRYWKEH
HFEGIALVEK ALQAAYGASA PSMTSATLRW MYHHSQLQGA HGDAVILGMS SLEQLEQNLA
AAEEGPLEPA VVDAFNQAWH LVTHECPNYF R*
mutated AA sequence MSRQLSRARP ATVLGAMEMG RRMDAPTSAA VTRAFLERGH TEIDTAFVYS EGQSETILGG
LGLRLGGSDC RVKIDTKAIP LFGNSLKPDS LRFQLETSLK RLQCPRVDLF YLHMPDHSTP
VEETLRACHQ LHQEGKFVEL GLSNYAAWEV AEICTLCKSN GWILPTVYQG MYNAITRQVE
TELFPCLRHF GLRFYAFNPL AGGLLTGKYK YEDKDGKQPV GRFFGNTWAE MYRNRYWKEH
HFEGIALVEK ALQAAYGASA PSMTSATLRW MYHHSQLQGA HGDAVILGMS SLEQLEQNLA
AAEEGPLEPA VVDAFNQAWH LVTHECPNYF R*
speed 0.86 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
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Problems