Bscl2 “773c t”
WebThis sequence change replaces proline with leucine at codon 194 of the BSCL2 protein (p.Pro194Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs769219167, ExAC 0.01%). WebThe most frequently observed mutation, in both the homozygous and compound heterozygous state (17/39, 44%) (Table 1) was c.773C>T, which encodes a known pathogenic mutation p.Ser258Leu (rs28939378) and has been suggested to be a possible founder mutation [Dupre et al., 2010]. All six individuals homozygous for the …
Bscl2 “773c t”
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Web19 rows · BSCL2/Seipin mutations cause congenital generalized lipodystrophy type 2 (CGL2), manifesting as severe lipoatrophy, insulin resistance, hypertriglyceridemia, and … WebFeb 18, 2024 · TARS2 has characteristics of a class II mitochondrial aminoacyl-tRNA synthetase and is expected to function as a dimer. Gene Structure Bonnefond et al. (2005) determined that the TARS2 gene contains 18 exons and spans 19.6 kb. Mapping By genomic sequence analysis, Bonnefond et al. (2005) mapped the TARS2 gene to …
Web3BCLSC02-W, manufactured by LED LAMPS and distributed by Worldway Electronics. It's category belong to Electronic Components ICs. It is applied to many fields, like … WebNM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu) AND multiple conditions Clinical significance: Uncertain significance (Last evaluated: Nov 8, 2024) Review status: 1 star …
WebThe phenotype was severe, with neurologic impairment in all patients and dysmorphic features in 4. In a patient with CDG Ik and nephrotic syndrome, Harshman et al. (2016) identified homozygosity for the previously identified S258L mutation in the ALG1 gene ( 605907.0001 ). The mutation was found by whole-exome sequencing and confirmed by … WebNM_006070.6(TFG):c.773C>T (p.Pro258Leu) AND multiple conditions Clinical significance: Uncertain significance (Last evaluated: Sep 24, 2024) Review status: 1 star out of maximum of 4 stars
WebClinVar archives and aggregates information about relationships among variation and human health.
WebList of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as uncertain significance by Invitae Minimum submission review status: ★☆☆☆ criteria provided … razer tomahawk mini-itx specsWebFeb 13, 2024 · Description: single nucleotide variant Variant details Conditions Gene (s) Help NM_054012.4 (ASS1):c.773C>T (p.Ala258Val) Allele ID 545221 Variant type single nucleotide variant Variant length 1 bp Cytogenetic location 9q34.11 Genomic location 9: 130479800 (GRCh38) GRCh38 UCSC 9: 133355187 (GRCh37) GRCh37 UCSC HGVS … simpson painting ideasWebSubmissions for variant NM_001122955. 4 (BSCL2): c. 773C>T (p. Pro258Leu) (rs769219167) ... This sequence change replaces proline with leucine at codon 194 of the BSCL2 protein (p.Pro194Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is … razer top up codrazer tomahawk mini-itx mini itx tower caseWebMar 1, 2024 · KIF1A gene encodes the kinesin 1a protein, an axonal motor protein participating in axonal transport. Variants in KIF1A were identified in different forms of neurodegenerative diseases. Here, we generated induced pluripotent stem cells (iPSCs) from a Chinese hereditary spastic paraplegia (HSP) patient carrying a compound … razer tool downloadWebList of variants in gene BSCL2, HNRNPUL2-BSCL2 studied for Charcot-Marie-Tooth disease type 2 Minimum submission review status: ★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline simpson paper company retireesWebSubmissions for variant NM_001244008. 2 (KIF1A): c. 773C>T (p. Thr258Met) This sequence change replaces threonine with methionine at codon 258 of the KIF1A protein (p.Thr258Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. simpson pantry low carb