mutation t@sting |
documentation |
Prediction |
polymorphism |
Model: without_aae, prob: 0.999999975415389 (classification due to TGP/ExAC, real probability is shown anyway) (explain) | |||||||||||||||
Summary |
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hyperlink | |||||||||||||||
analysed issue | analysis result | ||||||||||||||||
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name of alteration | no title | ||||||||||||||||
alteration (phys. location) | chr6:54002231A>CN/A show variant in all transcripts IGV | ||||||||||||||||
HGNC symbol | MLIP | ||||||||||||||||
Ensembl transcript ID | ENST00000370876 | ||||||||||||||||
Genbank transcript ID | N/A | ||||||||||||||||
UniProt peptide | Q5VWP3 | ||||||||||||||||
alteration type | single base exchange | ||||||||||||||||
alteration region | intron | ||||||||||||||||
DNA changes | g.207452A>C | ||||||||||||||||
AA changes | N/A | ||||||||||||||||
position(s) of altered AA if AA alteration in CDS | N/A | ||||||||||||||||
frameshift | N/A | ||||||||||||||||
known variant | Reference ID: rs2754779
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regulatory features | N/A | ||||||||||||||||
phyloP / phastCons |
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splice sites |
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distance from splice site | 12568 | ||||||||||||||||
Kozak consensus sequence altered? | N/A | ||||||||||||||||
conservation protein level for non-synonymous changes | N/A | ||||||||||||||||
protein features |
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length of protein | N/A | ||||||||||||||||
AA sequence altered | N/A | ||||||||||||||||
position of stopcodon in wt / mu CDS | N/A | ||||||||||||||||
position (AA) of stopcodon in wt / mu AA sequence | N/A | ||||||||||||||||
position of stopcodon in wt / mu cDNA | N/A | ||||||||||||||||
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 | 47 / 47 | ||||||||||||||||
chromosome | 6 | ||||||||||||||||
strand | 1 | ||||||||||||||||
last intron/exon boundary | 746 | ||||||||||||||||
theoretical NMD boundary in CDS | 649 | ||||||||||||||||
length of CDS | 705 | ||||||||||||||||
coding sequence (CDS) position | N/A | ||||||||||||||||
cDNA position (for ins/del: last normal base / first normal base) | N/A | ||||||||||||||||
gDNA position (for ins/del: last normal base / first normal base) | 207452 | ||||||||||||||||
chromosomal position (for ins/del: last normal base / first normal base) | 54002231 | ||||||||||||||||
original gDNA sequence snippet | GCTCACACTTGACCAAAAAGAAAAGCAGACCCCACCCACGC | ||||||||||||||||
altered gDNA sequence snippet | GCTCACACTTGACCAAAAAGCAAAGCAGACCCCACCCACGC | ||||||||||||||||
original cDNA sequence snippet | N/A | ||||||||||||||||
altered cDNA sequence snippet | N/A | ||||||||||||||||
wildtype AA sequence | MCSWYLGFEC SSKSNDYLTL NAGSQQERDQ AKLTCPSEVS GTILQEREFE ANKLQGMQQS DLFKAEYVLI VDSEGEDEAA SRKVEQGPPG GIGTAAVRPK SLAISSSLVS DVVRPKTQGT DLKTSSHPEM LHGMAPQQKH GQTPTTLPRA AGRETKYANL SSPSSTVSES QLTKPGVIRP VPVKSRILLK KEEEVYEPNP FSKYLEDNSD LFSEQLSHPM VAIPEHEALD SKEQ* | ||||||||||||||||
mutated AA sequence | N/A | ||||||||||||||||
speed | 0.78 s | ||||||||||||||||