Background: Several mutations described in the connexin-26 gene cause nonsyndromic autosomal recessive deafness (NARD).
In accordance with this, p.G133Vfs*15 displayed the highest allele count (of mutations described in the literature) localized exclusively in South Asian population in ExAC.
This approach to cancer studies clearly proves the potential of our NUMT database as a valuable new tool to validate mtDNA mutations described in different contexts.
Therefore, we provide a consistent notation and overview of the eight distinct leptin mutations described in humans so far (Figure 1) mapped to the human leptin gene, transcribed leptin mRNA (here cDNA), and translated immature and processed mature leptin protein.
For instance, notations next to the mutations described in today's Science paper, from a laboratory led by Ron Fouchier of Erasmus MC in the Netherlands, notes that they make the "H5 virus transmissible among ferrets".
There are many mutations described in LRRK2, however unequivocal proof of causation only exists for a small number.
The identified mutations were compared to mutations described in the VHL database (http://www.umd.be/VHL/).umd.be/VHL/
Our observations are limited to the JAK2V617F mutation, and cannot necessarily be extrapolated to the remaining 5% of mutations described in human PV [27].
Other mutations described in this study, D112N and two alterations at V122 (V122E and V122G), appear to affect aqueous portions of Loop 1.
Their analysis was highly focused on single nucleotide mismatches, and restricted to known mutations described in the SNP database and present in at least 50 EST hits.
Several of the mutations described in this study have been found by other investigators in lasR mutants of P. aeruginosa obtained under in vitro evolution experiments (encircled in figure 5) [27], [38], [40], [40].
