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Because both variants are located in poorly conserved genomic regions (phastCons of 0.01), it is likely that they represent rare neutral variants that lack functional significance.
For most variants that lack clear evidence as pathogenic variants, it takes only 1 2 min to complete the review process using ClinLabGeneticist.
We also used two Sa19 adenosine (A) 7 variants that lack murine immune cell stimulatory capacity (Figs 1B and EV1C and D) [ 5, 7].
Indeed, there are several variants that lack the signal peptide, and hence, their specific intracellular transport and structure could be altered.
AR gene rearrangement is a mechanism of CRPC progression which can result in constitutively active truncated AR splice variants that lack the AR-ligand binding domain.
Even some types of splice variants that lack the telomerase catalytic domains exhibit the functions in a manner that does not depend on telomerase activity.
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Interestingly, F1– variants were recovered from some MAb-treated animals, suggesting that antibody could select for variants that lacked the epitope and thus illustrating a potential problem with therapy based on a single antibody.
Interestingly, on some occasions the larger bands were also found to contain transcripts representing alternative splice variants that lacked the transmembrane region and/or a single SRCR domain (e.g. CH503 and CH529).
The stability of JAZ proteins was demonstrated previously for natural splice-variants that lack the Jas motif or when the Jas motif is purposely removed from the complete protein [ 44, 45].
Oxidative footprinting coupled with mass spectrometry (MS) is used to probe changes in the solvent accessibility of amino acid side-chains concurrent with the folding process, by quantifying the degree of oxidation experienced by the wild-type protein relative to a kinetically trapped, three-helical folding intermediate and an unfolded variant that lacks secondary structure.
Therefore we speculated that non-nuclear Sun1 localization in spermatids could be due to expression of a distinct Sun1 splice variant that lacks sequences required for NE retention.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com