Nonsynonymous synonymous chromosomes human pair 2. Medical search. Frequent questions

The affected twin was a 27-year old man who was found to have a non-synonymous mutation in amino acid position 362 in the fifth exon of the BHLHE41 gene which consisted of a substitution in the coding region of the gene from C>T which lead to an amino acid substitution of tyrosine to histidine. (wikipedia.org)
ADRB1 is a gene located in chromosome 10 which encodes for the beta-1 adrenergic receptor protein. (wikipedia.org)
Moreover, we identified selection for IbA10G2 at a 129-kb region around the 60-kDa glycoprotein gene in chromosome 6. (cdc.gov)
The loss of proper response to DNA damage leads to genomic instability such as gene mutations, incomplete replication and the loss or gain of chromosomes to future generations. (biomedcentral.com)
Our genetic analyses of these two species yielded contrasting results: a spatial analysis of molecular variance (SAMOVA) and F ST between each pair of populations revealed a locally fragmented genetic structure for Y. multistriata , compared to three distinct geographic groups of Y. argus within which range-wide gene flow occurs. (bioone.org)
Altered expression of this gene has been observed in multiple human cancers. (cancerindex.org)
Mannose binding lectin gene 2 ( MBL2 ) polymorphisms are reported to be associated with various diseases. (springeropen.com)
These 37 SNPs includes one in 3′ near gene, nine in 3′ UTR, one non-synonymous SNP (nsSNP), thirteen intronic SNPs and thirteen in 5′ near gene. (springeropen.com)
MBL1 and MBL2 , but in human the first of them is pseudogene leaving one functional gene MBL2 (Guo et al. (springeropen.com)
1998 ). The MBL2 gene is composed of 7461 bases and lies between the regions 52765380 to 52772841 bp of chromosome no. 10 (NCBI reference sequence number NC_000010.11). (springeropen.com)
Genes responsible for familial AD include the amyloid precursor protein ( APP ), presenilin 1 ( PS1 ) and presenilin 2 ( PS2 ), whereas the main genes responsible for familial FTLD are microtubule-associated protein tau gene ( MAPT ) and progranulin ( GRN ). (touchneurology.com)
In 1987, a region of linkage with AD was reported on the long arm of chromosome 21, which encompassed a region harboring the β- APP gene, a compelling candidate for AD. (touchneurology.com)
6 The gene is located at chromosome 21q21.22 and encodes for a transmembrane protein that is normally processed into amyloid fragments. (touchneurology.com)
Glycophorin C (GPC) is a single polypeptide chain of 128 amino acids and is encoded by a gene on the long arm of chromosome 2 (2q14-q21). (wikidoc.org)
[4] The GPC gene is organized in four exons distributed over 13.5 kilobase pairs of DNA . (wikidoc.org)
In a study of this gene among the Hominoidea two finding unique to humans emerged: (1) an excess of non-synonymous divergence among species that appears to be caused solely by accelerated evolution and (2) the ability of the single GYPC gene to encode both the GPC and GPD proteins. (wikidoc.org)
The positional cloning and subsequent identification of the Gimap5 gene on RNO4 were in part established through generation of the DR. lyp congenic rat line along with recombination events following our method of marker assisted breeding of DP with F344 rats [ 2 , 4 , 5 ]. (hindawi.com)
Gimap5 was identified as the lyp gene in the BBDP rat through a frameshift mutation and premature truncation of the Gimap5 protein [ 2 , 6 ] and can be rescued in a P1-derived artificial chromosome (PAC) transgenic rat [ 7 ]. (hindawi.com)
Quantitative trait loci (QTL) for age of puberty, nipple number and ovulation rate have been identified in Meishan crosses on pig chromosome 10q (SSC10) near the telomere, which is homologous to human chromosome 10p15 and contains an aldo-keto reductase (AKR) gene cluster with at least six family members. (biomedcentral.com)
In the human, an aldo-keto reductase (AKR) gene family (AKR1C) has been identified near the telomere on chromosome 10p15 that contains at least six aldo-keto reductase family 1, member C genes [ 11 ]. (biomedcentral.com)

Exon 1 encodes residues 1-16, exon 2 residues 17-35, exon 3 residues 36-63 and exon 4 residues 64-128. (wikidoc.org)

the mice that carried the mouse equivalent to the human DEC2-P385R mutation had, on average, about 1.2 hours more daytime activity than mice without the mutation. (wikipedia.org)
1 Some of these, such as the MC1R 2 and ASIP 3 genes, have been fairly well studied and useful information has been obtained by examining mutation patterns at these loci. (creation.com)
The evolution pathways that led to the hyper-mutation clusters in single human leukocyte antigen (HLA) molecules were identified. (elifesciences.org)
Younger age at diagnosis, no residual disease post debulking surgery and low CA125 levels following surgery and chemotherapy were clinical characteristics of LT. Tumors from LT survivors had increased somatic mutation burden (median 1.62 vs. 1.22 non-synonymous mutations/Mbp), frequent BRCA1/2 biallelic inactivation through mutation and loss of heterozygosity, and enrichment of activated CD4+, CD8+ T cells, and effector memory CD4+ T cells. (biomedcentral.com)
Positional cloning of lymphopenia ( lyp ) in the BB rat revealed a frameshift mutation in Gimap5 , a member of at least seven related GTPase Immune Associated Protein genes located on rat chromosome 4q24. (hindawi.com)

This included over 11,500 variants that caused nonsynonymous changes in proteins. (biomedcentral.com)
Overall, the current database of human variants is still lacking in heavy representation from this region. (biomedcentral.com)
These were subsequently compared with known human variation databases to identify the presence of functionally relevant mutations (for example pathogenic variants). (biomedcentral.com)
Four out of fifteen non-synonymous variants identified in the SCZ cohort (S610Y, R958S, P1119T and A1731S) were selected for functional analysis. (nature.com)
Only the non-synonymous SNPs (nsSNPs), also called as missense variants are particularly important as they result to changes in the translated amino acid residue sequence. (springeropen.com)
CDC has used national genomic surveillance since December 2020 to monitor SARS-CoV-2 variants that have emerged throughout the COVID-19 pandemic, including the Omicron variant. (cdc.gov)
Two synonymous germline in a majority of these patients.10 13 The same sequence variants were identified in two separate investigators also found somatic sequence variants patients. (cdc.gov)

One special type of plasmid used for genome sequencing is a bacterial artificial chromosome (BAC) , which can contain DNA fragments of about 150 kb. (learner.org)

The identified recurrent nonsynonymous missense mutations included KRAS , NRAS , EIF1AX , UBR5 , and DNM3 mutations . (biomedcentral.com)
For the two samples, somatic DNM3 nonsynonymous missense mutations in the exonic region were validated using Sanger sequencing. (biomedcentral.com)

Chimeric receptors between human and zebrafish OGR1s showed that the amino acid residues that determine the species specificity of ogerin-induced enhancement reside in the transmembrane and/or intracellular regions of OGR1. (bioone.org)
Given its particular distribution in normal human tissues and its potential roll as an immune modulator and in amino acid transport, tissue tolerance and protection against retroviral infection, syncytin could be a potential target for immune therapy using specific inhibitors. (ecancer.org)
However, an analysis of the synonymous and non-synonymous substitutions indicated a relatively high degree of amino acid change in hominoids [ 15 ], which could be consistent with a low degree of selective pressure. (ecancer.org)
The removal of an amino group from an organism, particularly from an amino acid ○ C will then pair with A and A will then pair with C, e.g. (goconqr.com)

For humans, a maximum of 10 alleles could have made it through unless Noah's sons carried mutations. (creation.com)
The authors pair single-cell sequencing technology with the LoopSeq synthetic long-read method to examine samples of hepatocellular carcinoma and benign liver, with the goal of identifying mutations and fusion transcripts specific to cancer cells. (elifesciences.org)

Although some scientists expected to find at least 100,000 genes coding for proteins, only about 30,000-35,000 of such genes appear to be in the human genome. (learner.org)
The quest to understand the workings of human cells will not be over until we understand how this genetic blueprint is used to produce a particular set of proteins - the proteome - for each type of cell and how these proteins control the physiology of the cell. (learner.org)
KERA, a proteoglycan proteins, was indicated in lipid-rich regions of human being atherosclerotic lesions, however, not in healthful arterial specimens. (bibf1120.com)
To do so, they coupled findings from 238 DNA-protein-binding experiments performed by the ENCODE project - a massive, multiyear international effort to identify the functional elements of the human genome - with a laboratory-based technique to identify binding patterns among the proteins themselves. (pharmaceuticalintelligence.com)
The predicted structures of the Gimap proteins show common sequences and motifs, such as GTP-binding domains in the N-terminal half, but with differing C-terminal ends [ 2 , 3 ]. (hindawi.com)

One locus important in embryogenesis, KIT , has been associated with white coat patterns in several mammalian species and piebaldism in humans. (creation.com)
We found significant similarity between spouses in the MHC at class I region in chromosome 6p21, and at the odorant receptor family 13 locus in chromosome 9. (biomedcentral.com)
An excess of SNP-level similarity was observed in class I of the MHC, and in a locus on chromosome 9 near eight consecutive functional odorant receptor genes. (biomedcentral.com)
The higher risk of SLE in women and men with Klinefelter syndrome may be associated with enhanced expression of toll-like receptor 7 (TLR7), a key pathogenic factor in SLE that is encoded on an X chromosome locus. (medscape.com)

Using the HapMap genotype data and genome wide expression data, we assessed the distribution and functional implications of singleton SNPs in the human genome. (nature.com)
Our results demonstrated that SNPs of potentially higher functional importance (eg, nonsynonymous SNPs, SNPs in splicing sites and SNPs in 5′ and 3′ UTR) are associated with a higher tendency to be singleton SNPs than SNPs in intronic and intergenic regions. (nature.com)
In this study, we investigate the distribution and functional implications of singleton SNPs in the human genome using the phase II HapMap data. (nature.com)
Our results demonstrated that singleton SNPs distribute across various functional groups and more interestingly a higher proportion of SNPs that have potentially higher importance (such as nonsynonymous SNPs, SNPs in splicing sites, etc) are singletons than of SNPs in introns and intergenic regions. (nature.com)
We produced assemblies for the five species ranging in aggregate length from 68 to 79 megabase pairs, identified putative orthologs for more than 12,000 human genes, and predicted more than 32,000 cross-species single nucleotide polymorphisms (SNPs). (biomedcentral.com)

In 1986 Nobel laureate Renato Dulbecco laid down the gauntlet to the scientific community to sequence the complete human genome. (learner.org)
Dulbecco also argued that such a project should be "an international undertaking, because the sequence of the human DNA is the reality of the species, and everything that happens in the world depends upon those sequences. (learner.org)
The capstone, of course, was the completion of the human genome sequence. (learner.org)
In 2001 two rival teams jointly announced the completion of a draft sequence of the entire human genome, consisting of more than three billion nucleotides. (learner.org)
Illumina Basespace Sequence hub, Dragon Germline 3.4.5 (DRAGEN Host Software Version 05.021.332.3.4.5 and Bio-IT Processor Version 0x04261818) was used for mapping the sequenced genomes with the human reference genome (GRCh38.p2) and the subsequent variant calling. (biomedcentral.com)
In this context, we have recently reported a complete sequence analysis of a male from the Western part of The contemporary Indian population is an admixture of several waves of human migration from various directions, which is believed to have been segregated into various communities over the past 2000 y or so[ 2 ]. (ijpsonline.com)
The average sequence divergence was only 1.24% ± 0.07% for the human-chimpanzee pair, 1.62% ± 0.08% for the human-gorilla pair, and 1.63% ± 0.08% for the chimpanzee-gorilla pair. (ncl.edu.tw)
The resulting 10x Adapter sequence contains a 16-base pair barcode, followed by a 12-base pair unique molecular identifier (UMI) and a 30-base pair poly(dT) sequence. (elifesciences.org)
Our aim was to clone and sequence the cDNA of the BB diabetes prone (DP) and diabetes resistant (DR) alleles of all seven Gimap genes in the congenic DR. lyp rat line with 2 Mb of BB DP DNA introgressed onto the DR genetic background. (hindawi.com)
Results: One non-synonymous germline sequence variant iants as well as multiple haplotypes were observed was identified in one patient. (cdc.gov)

The human genome is estimated to contain one single nucleotide polymorphism (SNP) every 300 base pairs. (nature.com)
Pseudogenes sequences were found to be conserved with reduced nucleotide variability, excess synonymous over nonsynonymous nucleotide polymorphism, and other features that are expected in genes that have functional roles. (blogspot.com)

Little is known about the emergence and spread of virulent subtypes of Cryptosporidium hominis , the predominant species responsible for human cryptosporidiosis. (cdc.gov)
In particular, the enlarged and globular brain is the most distinctive anatomical feature of modern humans that set us apart from other extinct and extant primate species. (biomedcentral.com)
Recently, a molecular evolution study of the HERV-W provirus in several ape species and 24 humans demonstrated the conservation of syncytin-1, as well as its retention of receptor-mediated fusogenic activity [ 14 ]. (ecancer.org)

One first constructs a map of the chromosomes, marking them at regular intervals of about 100 kilobases (kb). (learner.org)
The mRNA from human erythroblasts is ~1.4 kilobases long and the transcription start site in erythroid cells has been mapped to 1050 base pairs 5' of the start codon. (wikidoc.org)
Gimap5 is a member of at least seven related GTPase Immune Associated Protein ( Gimap ) genes located within 150 Kilobases (Kb) on rat chromosome (RNO) 4 [ 2 , 3 ]. (hindawi.com)

Exons 2 and 3 are highly homologous, with less than 5% nucleotide divergence. (wikidoc.org)
One of the QTL regions is located on the long arm of pig chromosome 10 (SSC10q) near the telomere, which is homologous to human chromosome 10p15 [ 5 , 6 ]. (biomedcentral.com)
The homologous region on mouse chromosome 13 contains a cluster of eight or nine AKR1C genes [ 12 ]. (biomedcentral.com)

bZIP TFs contain a bZIP domain, generally composed of 60-80 amino acids, with two functionally distinct parts, a highly conserved basic region and a variable leucine-zipper region (explaining the name bZIP) [ 2 , 3 ]. (biomedcentral.com)
PAS-2 ' ) plays a functionally important role in maintaining erythrocyte shape and regulating membrane material properties, possibly through its interaction with protein 4.1. (wikidoc.org)

The genetic basis of divergence between the highly cognitive human brain and supposedly lesser cognitive non-human primate brain has largely remained enigmatic. (biomedcentral.com)
This study focuses on two subjects: the divergences between human and the great apes, and an in-depth research of the divergence between human and chimpanzee using a relatively large data set. (ncl.edu.tw)

Human variation datasets were obtained from the UCSC and NCBI repositories [ 4 , 5 ]. (biomedcentral.com)

The mitochondrial haplogroup (L3e2b1a1) is indicative of maternal ancestors' arrival to the Indian subcontinent about 70 000 y ago, while the Y-chromosome haplogroup (J) is suggestive of the arrival of paternal ancestors less than 25 000 y ago. (ijpsonline.com)
Particularly, Y-chromosome and mitochondrial haplogroups have helped to develop a high resolution human migration map during the past 100 000 y. (ijpsonline.com)
and through the analysis of mitochondrial and Y-chromosome haplogroups decipher the migratory routes as well as the time for the ancestors of this individual to reach India. (ijpsonline.com)
Both GIMAP4 and GIMAP7 from human Jurkat cells [ 3 ] localize to the endoplasmic reticulum and Golgi apparatus while mouse Gimap3 from murine IL-3-dependent 32D myeloid precursor cells was expressed at the outer mitochondrial membrane [ 15 ]. (hindawi.com)

Localisation of hRad9 protein were performed on paired tumor and normal breast tissues. (biomedcentral.com)

Also, although there were only two humans, Eve may have carried alleles in her egg cells that differed from those in her body. (creation.com)
Nonetheless, carriage of specific alleles of HLA imparts about a 2-fold risk of SLE above that of the general population. (medscape.com)
For example, a recent study showed synergistic interaction between risk alleles found in the following pairs of genes: HLA-CTLA4, IRF5-ITGAM, and PDCD1-IL21. (medscape.com)

Subsequently, significant work has been done on Indian genomes but not much variant data from the Indian population has been added to the human genome variant database[ 2 - 7 ]. (ijpsonline.com)
The reference Human Genome and related variant databases need to be enriched with data from underrepresented populations. (ijpsonline.com)
The next primer pairs had been utilized: variant was genotyped in: Premature Atherosclerosis (PAS) Cohort: this cohort comprises 935 individuals with early symptomatic atherosclerosis prior to the age group of 51 years. (bibf1120.com)
Transmission potential of vaccinated and unvaccinated persons infected with the SARS-CoV-2 Delta variant in a federal prison, July-August 2021. (cdc.gov)
During a SARS-CoV-2 Delta variant outbreak among incarcerated persons with high vaccination rates in a federal prison, we assessed markers of viral shedding in vaccinated and unvaccinated persons. (cdc.gov)

Pfcsp sequences were retrieved from the Illumina-generated paired-end short-read sequences of 101 and 131 malaria samples from children aged 6-59 months presenting with clinical malaria at health facilities in Cape Coast (in the coastal belt) and Navrongo (Guinea savannah region), respectively, in Ghana. (biomedcentral.com)

Miller focused on two examples from molecular biology: a pseudogene and a fused chromosome. (blogspot.com)

A small percentage of women experience exceptional long-term survival (long term (LT), 10+ years), while others develop primary resistance to therapy and succumb to disease in less than 2 years (short term (ST)). To improve clinical management of HGSOC, there is a need to better characterize clinical and molecular profiles to identify factors that underpin these disparate survival responses. (biomedcentral.com)
Next Generation Sequencing (NGS) methods are rapidly providing remarkable advances in our ability to study the molecular profiles of human cancers. (biomedcentral.com)

300 ng gDNA from each of the four samples was used to prepare paired-end libraries with the Nextera™ DNA Flex Library Preparation kit with an average insert size of 600 bp. (biomedcentral.com)

Subsequently, the 1000 genome project [ 1 , 2 ] added genome data from the region. (biomedcentral.com)
If you have a slow connection or would like to save time, you can upload results for a region or chromosome of interest only. (umich.edu)

Next generation sequencing (NGS) is a new frontier in cancer and biomedical research, and these approaches are rapidly becoming the preferred method for human disease-based analysis due to vastly improved genome coverage and resolution [ 1 ]. (biomedcentral.com)

The original Human Reference Genome had no representation from the subcontinent. (biomedcentral.com)
It is a matter of concern that the Human reference genome originally developed in 2003[ 1 ] is derived from about 200 anonymous individuals from six countries: China, France, Germany, Great Britain, Japan and the United States, but did not have Deoxyribonucleic Acid (DNA) from any Indian. (ijpsonline.com)

A parametric LOD-score of 3.31 was observed to get a 4.4 Mb interval on chromosome 12. (bibf1120.com)
Age at puberty and weaning to estrus interval (WEI) are positively correlated [ 2 ] and the primary reason for culling sows is failure to return to estrus after weaning. (biomedcentral.com)

This study highlights complex patterns of genomic identity among partners in unrelated couples, consistent with a multi-faceted role for genetic factors in mate choice behavior in human populations. (biomedcentral.com)

2 In contrast to AD, which is more frequent in women, FTLD has an equal distribution among men and women. (touchneurology.com)

This group of fishes is a significant model of the evolutionary process and the coding of genotype to phenotype, largely because tremendous diversity has evolved in a short period of time among lineages with similar genomes [ 2 - 4 ]. (biomedcentral.com)

FIBCD1 is a tetrameric type II transmembrane endocytic vertebrate receptor that binds chitin, is found in human lung epithelium and modulates lung epithelial inflammatory responses to A. fumigatus cell wall polysaccharides. (bvsalud.org)
Exons 1, 2 and most of exon 3 encode the N-terminal extracellular domain while the remainder of exon 3 and exon 4 encode transmembrane and cytoplasmic domains. (wikidoc.org)

Guidelines put forth a decade ago by the American College of Medical Genetics (ACMG) suggests using chromosomal microarray (CMA) as a first line test in ASD since its diagnostic yield was estimated to be between 7 and 9% [ 2 , 10 ]. (biomedcentral.com)
At a very basic level, we are learning who likes to work with whom to regulate around 20,000 human genes," said Michael Snyder , PhD, professor and chair of genetics at Stanford. (pharmaceuticalintelligence.com)

Genome of the tropical plant Marchantia inflexa: implications for sex chromosome evolution and dehydration tolerance. (fish-evol.org)

The direct repeated segments containing these exons is 3.4 kilobase pairs long and may be derived from a recent duplication of a single ancestral domain. (wikidoc.org)

Despite promising results with cytoreductive surgery and platinum-based chemotherapy, more than 75% of women with HGSOC will relapse after completion of first-line therapy [ 2 ]. (biomedcentral.com)
RESULTS: Of 70 patients starting BPaL, 2 changed to rifampin-based therapy, 68 (97.1%) completed BPaL, and 2 of the 68 (2.9%) experienced relapse after completion. (cdc.gov)

Plague is a zoonotic disease, endemic throughout the world, and highly infectious in humans. (asm.org)
Although human disease is rare, Y. pestis is dangerous and highly infectious and thus has been identified as having potential for use in bioterrorism or as a biological weapon. (asm.org)
CONCLUSIONS: Infectious periods for vaccinated and unvaccinated persons who become infected with SARS-CoV-2 are similar and can be highly variable, though some vaccinated persons are likely infectious for shorter durations. (cdc.gov)

Attempts at replication of these genetic results in human studies, however, have reached conflicting conclusions. (biomedcentral.com)
The results are consistent with a significant but multifaceted role for genetic factors influencing mate selection in humans. (biomedcentral.com)

Then, known segments of the marked chromosomes (which can contain very small fragments of DNA) are cloned in plasmids . (learner.org)
To study the genomic divergences among hominoids and to estimate the effective population size of the common ancestor of human and chimpanzee we selected 53 autosomal intergenic noncoding DNA segments from the human genome and sequenced them in a human, chimpanzee, gorilla, and orangutan. (ncl.edu.tw)

METHODS: Consenting incarcerated persons with confirmed SARS-CoV-2 infection provided mid-turbinate nasal specimens daily for 10 consecutive days and reported symptom data via questionnaire. (cdc.gov)

As a point of fact lactose intolerance is the ancestral human state, and numerically predominant. (discovermagazine.com)

Although a large body of research, ranging from rodents to humans, has reported on the effects of OXT and AVP administration on affiliative and trust behaviors, and has highlighted the genetic contributions of OXT and AVP receptor polymorphisms to both social behaviors and to diseases related to social deficits, the consequences of peptide administration on psychiatric symptoms, and the impact of receptor polymorphisms on receptor function, are still unclear. (frontiersin.org)

Approximately 85% of lung cancer cases are non-small cell lung cancer (NSCLC) [ 2 ]. (biomedcentral.com)

Efficacy data from a Phase III clinical trial conducted across 11 sites in 7 African countries in children (aged 5 to 17 months) and infants (aged 6-12 weeks) revealed that the vaccine conferred moderate protective efficacy against clinical disease and severe malaria which waned over time [ 2 ]. (biomedcentral.com)
The vaccine conferred only 36.3% protection against clinical malaria and 32.2% against severe malaria in children aged 5-17 months who received 3 primary doses of RTS,S with a booster in the 20th month [ 2 ]. (biomedcentral.com)
Recently, the FDA granted marketing authorization for the first high-throughput NGS system (Illumina MySeqDx) for the purpose of clinical test development [ 2 ]. (biomedcentral.com)

The evolutionary expansion of human brain size is heterogeneous across brain regions. (biomedcentral.com)

Ogerin is a positive allosteric modulator of human and mouse ovarian cancer G protein-coupled receptors (OGR1s). (bioone.org)

Genetic basis of large brain size in modern humans has largely remained enigmatic. (biomedcentral.com)
Genes associated with the pathological reduction of brain size (primary microcephaly-MCPH) have the characteristics and functions to be considered ideal candidates to unravel the genetic basis of evolutionary enlargement of human brain size. (biomedcentral.com)
A comparison of four virulent Y. pestis strains with the human-avirulent strain 91001 provides further insight into the genetic basis of virulence to humans. (asm.org)

The identification of KERA in atherosclerotic plaque specimen in humans and mice lends support to its potential role in atherosclerosis. (bibf1120.com)

We should think of the human genome as a database of critical information that serves as a tool for exploring the workings of the cell and, ultimately, understanding how a complex living organism functions. (learner.org)

We consider the origin of syncytin, its normal role in human placentogenesis and data regarding its relevance in cell-cell fusion. (ecancer.org)

The latter half of 2022 was characterized by the circulation of sublineages of BA.2, BA.4, and BA.5 (e.g. (cdc.gov)

Subtype IbA10G2 has been found in ≈50% of C. hominis- associated outbreaks in the United States, including the massive outbreak in Milwaukee, Wisconsin, USA, in 1993 ( 2 , 3 ). (cdc.gov)
One nsSNP Gly54Asp (rs1800450) was found to be deleterious and damaging by both SIFT and Polyphen-2 servers and thus affecting MBL2 protein stability and expression. (springeropen.com)

Using a multi-analytical strategy, we report validated genome-wide relationships between genetic identity and human mate choice in 930 couples of European ancestry. (biomedcentral.com)

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