Missense variant
The NRG1 exon 11 missense variant is not associated with autism in the Central Valley of Costa Rica
... also present in 12 unrelated, other than by marriage, parental individuals, 7 fathers and 5 mothers, from 11 families who did not transmit the allele to cases. To be clear, both parents of Case 25 carry the T allele and ...
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An ADAMTS3 missense variant is associated with Norwich Terrier upper airway syndrome
... causal variant(s) within a 414 kb critical ...c.2786G>A missense variant in exon 20 of the positional candidate gene, ADAM metallopeptidase with thrombospondin type 1 motif 3 ...
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Computational Analysis of High Risk Missense Variant in Human UTY Gene: A Candidate Gene of AZFa Sub-region
... one missense variant (E18D) was predicted to be damaging or deleterious using SIFT, PolyPhen 2, PANTHER and ...E18D variant showed less stability, high conservation and having role in post ...
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A common missense variant in BRCA2 predisposes to early onset breast cancer
... that missense variants of genes for which truncating mutations are clearly pathogenic might also be ...the missense allele demonstrates high penetrance ...the missense variant is low, however, ...
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The effect of the chemical chaperone 4-phenylbutyrate on secretion and activity of the p.Q160R missense variant of coagulation factor FVII
... 4-PBA is reported to improve mislocalization of pro- teins associated with human diseases [33]. Previous in vitro studies on rFVII-160R demonstrated a defective intracellular transport with ER retention [11]. This is in ...
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The c.470 T > C CHEK2 missense variant increases the risk of differentiated thyroid carcinoma in the Great Poland population
... We have demonstrated that the c.470 T > C substitution in the CHEK2 gene is associated with an almost two- fold increase in the risk of papillary thyroid carcinoma in the Great Poland population, which confirms last ...
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Original Article A novel missense variant in TXNDC3 is associated with developmental dysplasia of the hip in Han Chinese population
... Abstract: Developmental dysplasia of the hip (DDH) is one of the most common inborn disabilities of the hip joint and a common disease with a genetic component for its etiology. However, genetic basis of Developmental ...
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A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer's disease
... Genomic DNA was extracted from peripheral blood leuco- cytes by standard methods. Primers were designed using the online software Primer3 v.0.4.0 (http://frodo.wi.mit. edu/). Polymerase chain reaction (PCR) generated a ...
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A missense variant in CST3 exerts a recessive effect on susceptibility to age-related macular degeneration resembling its association with Alzheimer’s disease
... the variant that cor- responds to decreased plasma cystatin C is on the same haplotype as the AMD/AD risk allele rs1064039-A (pair- wise LD: R 2 = ...and variant B (threonine) levels (Ratnayaka et ...for ...
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A rare missense variant abrogates the signaling activity of tetherin/BST 2 without affecting its effect on virus release
... Exome Variant Server database identified seven very rare naturally occurring missense variants of tetherin (Y8H, R19H, N49S, D103N, E117A, D129E and V146L) in human ...R19H variant selectively ...
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Development of metachronous rectal cancers in a young man with dyskeratosis congenita: a case report
... (p.Ser121Gly) variant in DKC1 was previously reported as a causative variant for Hoyeraal-Hreidarsson (HH) syndrome, which is a severe type of DC and shows additional features, including intellectual ...
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ApoE variant p.V236E is associated with markedly reduced risk of Alzheimer’s disease
... loci, missense variants are particularly important because they can be readily investigated in model systems to search for novel therapeutic ...the missense variants at known LOAD loci already cataloged on ...
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Familial monophasic acute transverse myelitis due to the pathogenic variant in VPS37A
... VPS37A encodes a component of endosomal sorting complexes required for transport (ESCRT)-1, one of a set of heteromeric complexes (ESCRT-0 to ESCRT-3) that are involved in membrane remodeling processes including ...
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CDKL5 variants
... this variant in vitro using a minigene splicing assay, show- ing that splicing is disrupted, resulting in exon 14 being omitted from the transcript (figure ...A variant be cat- egorized as a splicing rather ...
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Functional variants of POC5 identified in patients with idiopathic scoliosis
... rare missense variant ...p.A446T variant was found in an additional set of families with IS and in an additional 3 cases of ...POC5 variant mRNAs resulted in spine deformity, without affecting ...
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Next generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers–Danlos syndrome with severe intestinal involvement: a case report
... PolyPhen-2 software prediction, based on two datasets (Human Diversity and Human Variation), indicated that c.1493G>A, p.G498D is probably damaging for the structure of the protein with a score of 1.000 (sensitivity ...
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The Promiscuous sumA Missense Suppressor from Salmonella enterica Has an Intriguing Mechanism of Action
... of missense mutants similar to the sumA missense ...Glu2(AAA/G) missense suppressor that recognizes AAA or AAG lysine codons could be derived from tRNA Glu2(GAA/G), which normally rec- ognizes GAA or ...
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Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity
... Mutation Surveyor is a useful in silico tool developed by SoftGenetics that assists the detection of sequence variations within Sanger sequencing traces. This tool can process up to 400 lanes of data at a time with high ...
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Loss-of-function variants of SCN8A in intellectual disability without seizures
... Attention-deficit hyperactivity disorder was diagnosed at 6 years and has responded to methyl- phenidate. Exome sequencing revealed the SCN8A variant c.2890G . C (p.Gly964Arg; G964R) which arose de novo and was ...
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Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGDassociated with inherited cataract
... remaining variant occurred in exon-2 of GJA8 ...this variant was also predicted to have damaging effects on protein function using six mutation prediction programs (Table ...p.His98Pro variant in ...
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