Two out of five SNPs were identified as synonymous mutations (c.183C>T, c.489G>A), while the remaining three were missense mutations
(non-synonymous), c.676A>G, c.748T>G, c.770T>A causing thep.K226E, p.F250V, and p.F257Y amino acid substitutions in transmembrane domains, TM1, TM4, TM6, and intracellular loops-3 of the MC1R protein (Table 2, Figure 3).
The missense mutation
in Pakistani family with hypodontia of permanent tooth is reported in the present study.
Tumoral Calcinosis Presenting with Eyelid Calcifications due to Novel Missense Mutations
in the Glycosyl Transferase Domain of the GALNT3 Gene.
The first substitution from C-T substitution at c.1306 is predicted to be a missense mutation
that changes amino acid arginine to tryptophan at amino acid (a.a.) position 436.
P., Direct evidence on the contribution of a missense mutation
in GDF9 to variation in ovulation rate of Finnsheep.
This result suggested that the genetic missense mutation
was first observed in clinical imaging, and then in clinical manifestations.
The 28 novel mutations included 22 missense mutations
, 3 small insertions, 1 splicing mutation, 1 small deletion, and 1 nonsense mutation.
Testing revealed an autosomal dominant, heterozygous missense mutation
(c.991C>T; p.Arg331Cys) in the HNF4A gene.
We postulate that our patient with a HCS clinical phenotype and a novel de novo missense mutation
in the PEST domain of NOTCH2 expand the genotype-phenotype spectrum between HCS and its allelic condition Serpentine fibula-polycystic kidney syndrome (SFPKS) (OMIM#102500)
Tennstedt et al., "A novel missense mutation
in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression," European Journal of Medical Genetics, vol.
A novel missense mutation
in exon 5 of the eukaryotic translation initiation factor 2B subunit delta gene (EIF2B4), ENST00000493344: c.614C>T| p.Pro205Leu was detected (read depth: 60x).
The analysis identified a missense mutation
(S37C) in CTNNB1, the gene encoding [beta]-catenin.