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Because SIFT and PolyPhen-2 rely on conservation information, they can only score variants at conserved positions.
Specifically, we focused on variants at conserved positions in regulatory regions within 50 kb of the candidate genes KCNQ2, SCN2A, SCN1A, SPTAN1, SRGAP2, MAGI1, PLCB1, STXBP1, PNPO, PCDH19, GRIN2A, MAPK10, CDKL5, SLC25A22, ERBB4 and ARX.
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Compared to the PGx variants, disease variants occur at the most conserved positions while neutral variants at less conserved ones.
The finding in FHH PASS regions of enrichment for mast cell proteins, some of which show NSC variants at highly conserved amino acids, suggests a previously unidentified pathway for hypertension-induced nephropathy that is consistent with previous observations in human and rat hypertension, the mechanism for which is at present unknown.
MLST relies on allelic variants in conserved genes to calculate phylogenetic relationship of strains.
MiRNA isoforms were classified as length variants, non-conserved miRNA variants, or conserved miRNA variants (Table 5).
Phaseolus vulgaris miRNA isoforms were classified as length variants, non-conserved miRNA variants, or conserved miRNA variants.
It has been argued that genetic variants at a position conserved in related species are strong candidates for phenotypic effect in humans (Miller and Kumar 2001; Kumar et al. 2009).
Two of the six variants had overlap; that is, two variants altered conserved amino acids and also were heteroplasmic.
Although these variants involve conserved residues, their putative effect on protein function remains unclear.
Most of the new variants were not conserved in human, suggesting that these minor variants diverged after species separation.
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