val160met

Whole Exome Sequencing Identifies Novel Genetic Alterations in Patients with Pheochromocytoma/Paraganglioma

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7803589/

SDHC c.478G>A (p.Val160Met) has not been reported previously, but other missense variants near this amino acid residue such as p. Leu158Pro and p. Leu161Val had been detected in PPGL patients [17–19]. FH c.418G>C (p.Val140Leu) had been submitted in ClinVar as a VUS, but c.419T>G (p. Val140Gly) involving the same amino acid residue has been reported in leiomyomatosis and renal cell cancer patients [20]. In addition, a novel nonsense variant, c.914G>A (p.Trp305*) in DNMT3A, showed variant allele frequency of 18% in exome sequencing data.

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New insights into genetic susceptibility of COVID-19: an ACE2 and TMPRSS2 polymorphism analysis

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7360473/

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https://wikidiff.com/pleomorphism/polymorphism

As nouns the difference between pleomorphism and polymorphism is that pleomorphism is (biology) the occurrence of multiple structural forms during the life cycle of an organism while polymorphism is the ability to assume different forms or shapes.

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SDHC
c.478G>A
p.Val160Met
rs1553266502

Submissions for variant NM_003001. 5 (SDHC): c. 478G>A (p. Val160Met) (rs1553266502) ... This sequence change replaces valine with methionine at codon 160 of the SDHC protein (p.Val160Met).

The valine residue is weakly conserved and there is a small physicochemical difference between valine and methionine.

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Succinate Dehydrogenase
Complex Subunit C
Cytochrome b560
Mitochondrial Protein

https://en.m.wikipedia.org/wiki/Succinate_dehydrogenase_complex_subunit_C

The gene that codes for the SDHC protein is nuclear, even though the protein is located in the inner membrane of the mitochondria. The location of the gene in humans is on the first chromosome at q21.

The gene is partitioned in 6 exons. The SDHC gene produces an 18.6 kDa protein composed of 169 amino acids.

The SDHC protein is one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as Complex II of the electron transport chain, a key enzyme complex of the citric acid cycle and aerobic respiratory chains of mitochondria.

The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane.

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Polymorphism misfolding Mitochondrial Nucleus.

keeps coming back to bacteria phage.

something that can hyjack a bacteria or cell nucleolus.

similarities between Bacteriophage & Carboxysome Microcompartments

pineapple juice has cysteine protease, that unbinds toxic nitrogen & calcium buildup?

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Succinate Dehydrogenase

https://en.m.wikipedia.org/wiki/Succinate_dehydrogenase

Succinate dehydrogenase (SDH) or succinate-coenzyme Q reductase (SQR) or respiratory complex II is an enzyme complex, found in many bacterial cells and in the inner mitochondrial membrane of eukaryotes. It is the only enzyme that participates in both the citric acid cycle and the electron transport chain.