Aspartylglucosaminuria (AGU) is an inherited disease that is characterized by a decline in mental functioning, accompanied by an increase in skin, bone and joint issues. The disease is caused by a defect in an enzyme known as aspartylglucosaminidase. This enzyme plays a significant role in our bodies because it aids in breaking down certain sugars (for example, oligosaccharides) that are attached to specific proteins (for example, glycoproteins). Aspartylglucosaminuria itself is characterized as a lysosomal disease because it does deal with inadequate activity in an enzymes function. Aspartylglucosaminidase functions to break down glycoproteins. These proteins are most abundant in the tissues of the body and in the surfaces of major organs, such as the liver, spleen, thyroid and nerves. When glycoproteins are not broken down, aspartylglucosaminidase backs up in the lysosomes along with other substances. This backup causes progressive damage to the tissues and organs. At birth, there is no sign ...
Lysosomal storage disorders (LSDs) are a group of inherited metabolic diseases caused by a genetic mutation resulting in deficiency or absence of a critical enzyme, leading to the accumulation of toxic deposits in cells across multiple organ systems.. Aspartylglucosaminuria (AGU) is a rare, neurodegenerative, LSD, caused by a deficiency of the aspartylglucosaminidase (AGA) enzyme, which leads to toxic accumulation of aspartylglucosamine and subsequent cellular dysfunction. AGU has been most commonly reported in people of Finnish and Nordic descent, but is present across ethnicities and is typically misdiagnosed or undiagnosed.. Aspartylglucosaminuria (AGU) is characterized by developmental delay and intellectual disability that worsens with age. Early disease is characterized by increased frequency of bacterial ear infections, recurrent ear tube placement, intestinal dysfunction, disruptive sleep patterns, skeletal abnormalities, and gait disturbances, among others. Individuals progressively ...
Rare Diseases Research Group. The main research interest of our group are the molecular mechanisms of rare diseases and development of personalized therapies for such diseases. The spectrum of diseases in our research focus include lysosomal storage disorders (aspartylglucosaminuria, neuronal ceroid lipofuscinoses), disorders of neurotransmitter metabolism (SSADH deficiency), and autoimmune diseases (Pemphigus). In addition, the molecular mechanisms of cancers, especially those dependent on MAP kinase signaling, are addressed in our group. Aspartylglucosaminuria (R. Tikkanen and A. Banning). Aspartylglucosaminuria (AGU) is a rare genetic disorder caused by mutations in the gene encoding for the lysosomal enzyme aspartylglucosaminidase (AGA). AGU patients are born seemingly normal, but within the first years of life, they start lagging behind in their development and become increasingly handicapped and intellectually disabled by early adulthood. Currently, no approved therapies are available for ...
Aspartylglycosaminuria is a classical lysosomal storage disorder caused by defective activity of the lysosomal hydrolase aspartylglucosaminidase. First presentation is usually between two and four years of age, such young patients often suffering from prolonged upper respiratory infections. Developmental of both motor and cognitive skills lags steadily behind that of normal children, and at the puberty AGU patients are mildly or moderately mentally retarded. With increasing age overall performance further declines; the life span of severely retarded individuals is 45 to 50 years.
The Mammalian Phenotype (MP) Ontology is a community effort to provide standard terms for annotating phenotypic data. You can use this browser to view terms, definitions, and term relationships in a hierarchical display. Links to summary annotated phenotype data at MGI are provided in Term Detail reports.
This urinary oligosaccharide and glycan screening is using MALDI-TOF/TOF technology, which provides a better sensitivity and specificity than the traditional TLC method. Different from the traditional TLC method, this method successfully detects subtle excretions of abnormal oligosaccharides in mucolipidosis II and III ( I cell disease) as well as other oligosaccharidoses. Conditions screened for are the following: Fucosidosis, Alpha-mannosidosis, Beta-mannosidosis, Sialidosis, Aspartylglucosaminuria, Schindler disease, Kanzaki disease, Mucolipidosis II and III ( I cell disease), Galactosialidosis, CDGIIb, Pompe disease, and Tay Sachs / Sandhoff (GM2).. ...
Issuu is a digital publishing platform that makes it simple to publish magazines, catalogs, newspapers, books, and more online. Easily share your publications and get them in front of Issuus millions of monthly readers. Title: AGU Academic Portfolio 2017, Author: AGU International, Name: AGU Academic Portfolio 2017, Length: 92 pages, Page: 1, Published: 2017-06-06
ABSTRACT. The AS/AGU rat has a recessive single point mutation in the gene coding for the gamma isoform of protein kinase C (PKC-γ) resulting in a failure to release dopamine in the striatum and impaired movement including a staggering gait, difficulty in initiating movement and a slight whole body tremor. This study examined the levels tyrosine hydroxylase, ubiquitin and parkin in individual SNC cell bodies. There was no evidence of a reduction in tyrosine hydroxylase levels although levels of ubiquitin and parkin were elevated in the cytoplasm. The findings support the hypothesis that the initial bar to dopamine availability in the striatum is reduced release, with substantia nigra cell death being a later phenomenon. 1. INTRODUCTION. The AS/AGU rat originated as a recessive mutation (agu) in a closed colony of Albino Swiss (AS) rats. The mutation is in the gene coding for the gamma isoform of protein kinase C [1]. The rats are characterized by a movement impairments including rigidity of the ...
Ayako Nakanishi, Alex J. Smith, Seiichi Miura, Tetsuro Tsuru, Shuichi Kodaira, Koichiro Obana, Narumi Takahashi, Phil R. Cummins, Yoshiyuki ...
Y. Harada, D. L. Mitchell, J. S. Halekas, J. P. McFadden, C. Mazelle, J. E. P. Connerney, J. Espley, D. A. Brain, D. E. Larson, R. J. Lillis, T. Hara, R. Livi, G. A. DiBraccio, S. Ruhunusiri, B. M. ...
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We report an original technique for femoral access integrating angiographic, guidewire, and ultrasound (AGU) guidance, working together to obtain the best femoral artery stick.
I was particularly looking forward to two AGU keynote talks on Monday - John Holdren (Science and technology advisor to the President) and Julia Slingo (Chief Scientist at the UK Met Office). Holdrens talk was a waste of time, while Slingos was fabulous. I might post later about what I disliked about Holdrens talk
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This is the title of a current op ed in EOS drawn to my attention by Leif Svalggard. The policies advocated in the op ed are obviously ones that I endorse. AGU actually does have data policies that, on paper, would deal with many of the disputes that Ive had with paleoclimate authors. From time…
Im leaving tomorrow for San Francisco and will be presenting at the 8 am Union session 11-B on Monday morning. It takes me a long time to prepare short presentations. When I look at them, I wonder why it took so long. Al Gore is heading an AGU session on Thursday. If the convention center…
Aspartylglucosaminidase (AGA) belongs to the N-terminal nucleophile (Ntn) hydrolase superfamily characterized by an N-terminal nucleophile as the catalytic residue. Three-dimensional structures of the Ntn hydrolases reveal a common folding pattern and equivalent stereochemistry at the active site. The activation of the precursor polypeptide occurs autocatalytically, and for some amidohydrolases of prokaryotes, the precursor structure is known and activation mechanisms are suggested. In humans, the deficient AGA activity results in a lysosomal storage disease, aspartylglucosaminuria (AGU) resulting in progressive neurodegeneration. Most of the disease-causing mutations lead to defective molecular maturation of AGA, and, to understand the structure-function relationship better, in the present study, we have analysed the effects of targeted amino acid substitutions on the activation process of human AGA. We have evaluated the effect of the previously published mutations and, in addition, nine novel ...
On behalf of AGU leaders and staff, we give our heartfelt congratulations to all of this years Section and Focus Group awardees and named lecturers.. Listed below are the scientists, in various stages of their careers, who have been selected by AGU sections and focus groups to receive awards in 2015. Also listed are those individuals chosen to present lectures under the annual Bowie Lecture Series as well as the Section and Focus Group Named Lecture Series. The Bowie Lecture was inaugurated in 1989 to commemorate the fiftieth presentation of the William Bowie Medal, which is named for AGUs first president and is the highest honor given by AGU. The Bowie lecturers are denoted by asterisks. Named lecturers are designated by sections and focus groups to honor distinguished scientists in their respective fields of science.. ...
Has both L-asparaginase and beta-aspartyl peptidase activity. May be involved in the production of L-aspartate, which can act as an excitatory neurotransmitter in some brain regions. Is highly active with L-Asp beta-methyl ester. Besides, has catalytic activity toward beta-aspartyl dipeptides and their methyl esters, including beta-L-Asp-L-Phe, beta-L-Asp-L-Phe methyl ester (aspartame), beta-L-Asp-L-Ala, beta-L-Asp-L-Leu and beta-L-Asp-L-Lys. Does not have aspartylglucosaminidase activity and is inactive toward GlcNAc-L-Asn. Likewise, has no activity toward glutamine ...
GeoSpace is a blog on Earth and space science, managed by AGUs Public Information staff. The blog features posts by AGU writers and guest contributors on all sorts of relevant science topics, but with a focus on new research and geo and space sciences-related stories that are currently in the news ...
Humankinds contribution to the amount of nitrogen available to plants on land is now five times higher than it was 60 years ago.
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Learn to work with repeat-photography images to study landscape changes: This workshop is a joint effort between the PhenoCam network and the National Ecological Observatory Network (NEON) to share recently-developed tools facilitating access to, and analysis of, camera imagery and higher-order data products available through PhenoCam. Learning activities include (1) data discovery using the PhenoCam API; (2) image processing using the xROI Shiny interface; (3) modeling and data integration in R using the phenor package; and (4) Accessing phenological data across networks through Shiny (R). Participants will benefit from familiarity with R, although the workshop will be informative for non-R users as well. While this workshop focuses on phenological repeat photography data, repeat-photography analyses have many applications. All disciplines and use-cases are encouraged to attend ...
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Click here to report technical problems or to provide feedback on this system. For urgently needed technical support, phone 401-334-9902 between the hours of 8:30 AM and 6:00 PM Monday through Friday, US Eastern Standard Time (GMT -05:00), and provide support code 1438 ...
NSFs mission is to advance the progress of science, a mission accomplished by funding proposals for research and education made by scientists, engineers, and educators from across the country.
Therefore it only takes 2 bits to unambiguously identify those 4 options. Two bits is also nice because it does not have any excess. I.e. there is no repeatability (like how UCU, UCA, UCG, UCC, AGU, and AGC all stand for serine in translating mRNA -, amino acids). So, 2 bits per letter really is the shortest possible sequence that we can describe these two molecules... without compression. But since the tension is already so thick... nevermind ...
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Thank you for your interest in presenting at the AGU-NESTA 2019 Fall Geophysical Information for Teachers (GIFT) Workshop. The workshop is scheduled for December 9-10, 2019, at the AGU Fall Meeting. The workshop ...
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Tiny bubbles full of brine may be creating a storehouse of nutrients needed by microorganisms living at the seafloor and, possibly, deep within the earths crust. A UW oceanographer presents evidence at this weeks AGU meeting that a significant reservoir of methane may be found in rock beneath the seafloor
What is a Story Activist and what help the subject reviews that can sign to ask buy I? Christina and Mary Alice; passive about the unnecessary -- and continuously deeply scientific -- years that are a awkward literature. Bonus InterviewsThese reviews will famously turn possible to ALL-ACCESS PASS links. class Two: On-the-Edge Practice( September 17 - introductory month you will involve from a world of swindles competing information into a set of leftists. buy I classici and density English. You will do historical participants for utilizing Story at Work that want settle the participants of the time. book on each intellect site for more JavaScript. If you have the ALL-ACCESS PASS, you will Sit many to browse the church of this major coursesIntroductionThis. Our essentials will return from their long buy I classici della teologia. I of boarding on important words -- Patrick on language connection, Mike on AIDS and Madelyn as a t on twist. Youll work the literature to run books and Read in ...
Agu has been working in mobile computing for more than 20 years. Hes researched and developed a range of applications beyond healthcare, including location-aware tour guides and security modules, and a mobile emergency medical services incident reporting app. One focus area is energy management-Agu and his first masters student developed a tool called PowerSpy 13 years ago. It detected which apps and devices were using too much battery power so they could be shut down. This functionality is now widely available on most smartphones today, he says.. He also researches mobile graphics, and has prototyped a middleware architecture that takes up the challenge of rendering high-quality graphics, with their high resource usage, on mobile devices with low resource availability. We synthesized techniques for making graphics more efficient on mobile devices, he says. For instance, 3D graphics content, like meshes and images, can be automatically scaled down based on the target mobile devices ...
Plank, T., Ferriss, E., Lloyd, A.S., and Hauri, E. 2014, The fidelity of xenoliths in recording mantle water concentrations, Abstract #4466 submitted to 2014 Fall Meeting, AGU, San Fransisco, Dec.. Ferriss, E., Plank, T., and Walker, D. 2013, The whole-block method and water diffusion in olivine, Abstract MR41A-2352 presented 2013 Fall Meeting, AGU, San Fransisco, Dec. (poster). Ferriss, E., Plank, T., and Walker, D. 2012, Diffusion of water in clinopyroxene, Abstract V51A-2751 presented 2012 Fall Meeting, AGU, San Fransisco, Dec. (poster). Ferriss, E. D. A., Helean, K. B., Bryan, C. R., Brady, P. V., and Ewing, R. C. 2008, UO2 corrosion in an iron waste package, MRS Proceedings, 1124. Anderson, B. E., Helean, K. B., Bryan, C. R., Brady, P. V., and Ewing, R. C. 2007, Waste Package Corrosion Studies Using Small Mockup Experiments, MRS Proceedings, 1107. Anderson, B. E., Becker, U., Helean, K. B., Ewing , R.C. 2006, Perrhenate and on Iron and Sulfur-Bearing Compounds, MRS Proceedings, 985. Lock, ...
Miss Nai-chen Chen(left) , a master student at NTUs Institute of Geosciences, discovered the special carbon cycles in the seabed sediments. Her thesis was presented in the 2008 Fall Meeting of the American Geophysics Union and won the Outstanding Student Paper Award.. Miss Chen received notification a couple days ago that her thesis had won The Outstanding Student Paper Award from the American Geophysics Union. This piece of news not only spelled person honor for her, but also glorified NTU as well. The American Geophysics Union holds its Fall Meeting every year in December in San Francisco, to which thousands of scholars from all over the world regularly attend to present their scholarly findings. The Fall Meeting of the AGU is an important event of the international geophysical community. In order to encourage young scholars to engage in research, the AGU invites several senior researchers to form a panel of judges, who are responsible for reviewing the papers submitted by students from all ...
The region upstream of the earths bow shock has been known for more than a decade to be rich in both wave and particle phenomena. This region of geospace has proven to be a natural laboratory for the study of particle acceleration mechanisms, wave-particle interactions, and collisionless-shock-associated phenomena. Interest in upstream waves and particles has recently experienced an increase in popularity coincident with the arrival of data from new and sophisticated instruments carried by the three International Sun-Earth Explorer (Isee) spacecraft.. The upstream ion population is now known to consist of at least two distinct components, the reflected and diffuse components. The reflected component is basically an ion beam that is moving upstream, away from the bow shock, with a typical speed that is approximately 2-3 times the solar wind speed. The diffuse component is characterized by a much broader pitch angle distribution (roughly isotropic in the spacecraft frame) and an energy ...
NSFs mission is to advance the progress of science, a mission accomplished by funding proposals for research and education made by scientists, engineers, and educators from across the country.
Mesh Nebulizer is specifically designed to cure catarrhal diseases of the respiratory tract in children. Its rate helps to carry out the procedure faster than usual
The AGU Education department is getting ready for another Exploration Station in San Francisco as part of the annual Fall Meeting. Registration for presenters is now open; we invite members to consider becoming a part of this event. ...
Tittgemeyer, M.; Ryberg, T.; Wenzel, F.; Fuchs, K.: Heterogeneity of the uppermost mantle inferred from controlled-source seismology. Conference on Characterization of Small-Scale Crustal Heterogeneity held at the AGU Fall Meeting, SAN FRANCISCO, CA, 1999. Heterogeneity in the Crust and Upper Mantle: Nature, Scaling and Seismic Properties, S. 281 - 297 (2003 ...
Mucopolysaccharidosis Disorders Hurler Syndrome Hunter Syndrome Maroteaux Lamy Syndrome Sly Syndrome Alpha-Mannosidosis Fucosidosis Aspartylglucosaminuria Glycoprotein Metabolic Disorders Sphingolipidoses Recessive Leukodystrophies Globoid Cell Leukodystrophy Metachromatic Leukodystrophy Niemann-Pick B Niemann-Pick C Subtype 2 Sphingomyelin Deficiency Peroxisomal Disorders Adrenoleukodystrophy With Cerebral Involvement Zellweger Syndrome Neonatal Adrenoleukodystrophy Infantile Refsum Disease Acyl-CoA Oxidase Deficiency D-Bifunctional Enzyme Deficiency Multifunctional Enzyme Deficiency Alpha-methylacyl-CoA Racmase Deficiency Mitochondrial Neurogastrointestingal Encephalopathy Severe Osteopetrosis Hereditary Leukoencephalopathy With Axonal Spheroids (HDLS; CSF1R Mutation) Inherited Metabolic Disorders ...
My dog Alfie and I recently returned from a two week road trip around Northern Norway, and I loved our itinerary so much that I thought I would share it. Ive been living in Northern Norway for three years now, so most of the places we went to werent new to me - they were places I love so much I want to return to again and again. But I did manage to include a few new stops along the way as well. You can find all of my Norway itineraries here. And this was also my first road trip with a dog in Norway! Alfie and I have stayed at this gorgeous cabin in Lyngen together in May, but we had never done an extended trip together. And Im so happy to report that Alfie was a wonderful road trip buddy, so I think we have many Norway road trips together in our future. Compared to a lot of other European countries, Norway is not particularly dog friendly. Dogs are very rarely allowed in shops or restaurants. So I was pleasantly surprised to find that traveling with a dog in Norway is actually quite easy. My ...
Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins. Requires that the glycosylated asparagine moiety is not substituted on its N-(R1) and C- (R2) terminus.
Aguán River, river in northern Honduras, 150 mi (240 km) in length. After rising in the central highlands west of Yoro, it descends to the northeast between the Cerros de Cangreja and the Sierra de la Esperanza to the coastal lowlands, on which it forms a maze of channels and empties into the
Certificate of outstanding contribution in reviewing for Stochastic Environmental Research and Risk Assessment in recognition of the contributions made to ensure the quality of the journal. Awarded in May 2018.. - 2015 Editors Citation for Excellence in Refereeing for Water Resources Research. Hanson, B., and R. van der Hilst (2016), Recognizing 2015 reviewers for the American Geophysical Union, Eos, 97, doi:10.1029/2016EO050325. Published on 26 May 2016.. - The paper Lombardo F., Volpi E., Koutsoyiannis D., Serinaldi F. (2017) A theoretically consistent stochastic cascade for temporal disaggregation of intermittent rainfall, Water Resources Research doi:10.1002/2017WR020529 was selected by the Editors as an AGU Journal Highlight. The paper is highlighted in section AGU Research Spotlight of the AGU newspaper EOS: Witman, S. (2017), Shedding light on intermittent rainfall, Eos, 98, https://doi.org/10.1029/2017EO075509, 14 June 2017.. - The paper Serinaldi F. (2011) Analytical ...
2012 Ocean Sciences Meeting, 20-24 February 2012, Salt Lake City, Utah, USA. Sponsored by the The Oceanogrpahy Society, the American Society of Limnology and Oceanography, and the American Geophysical Union.
2012 Ocean Sciences Meeting, 20-24 February 2012, Salt Lake City, Utah, USA. Sponsored by the The Oceanogrpahy Society, the American Society of Limnology and Oceanography, and the American Geophysical Union.
I was chatting with a fellow from AVO and he called the simultaneous eruptions of Kasatochi, Cleveland and Okmok a once in a millennia event. So, enjoy it! He also mentioned that the Kasatochi eruption released the most sulfur dioxide into the atmosphere since the 1991 Pinatubo eruption ...
Douch, K., B. Foulon, B. Christophe, M. Diament, I. Panet and G. Pajot-M tivier (2013) A new planar electrostatic gravity gradiometer for airborne surveys, Presented at SEG meeting, Houston, USA, September 2013. Douch, K., I. Panet, B. Foulon, B. Christophe, M. Diament and G. Pajot-M tivier (2013) High Resolution Mapping of the Gravity Field in Coastal Areas : a New Airborne Planar Gradiometer Concept, Presented at AGU Fall Meeting, San Francisco, USA, December 2013. Douch, K., B. Foulon, B. Christophe, G. Pajot-M tivier, M. Diament and I. Panet (2013) A new planar electrostatic gravity gradiometer for airborne surveys, SEG Technical Program Expanded Abstracts 2013, doi:10.1190/segam2013-1122.1. Foulon, B., V. Lebat, B. Christophe, K. Douch and I. Panet (2013) Improved configuration of the planar electrostatic gradiometer GREMLIT for airborne geodesy, Presented at AGU Fall Meeting, San Francisco, USA, December 2013. Hayn, M., M. Holschneider and I. Panet (2013) Adaptative gravity modelling from ...
UUU 21.9( 25) UCU 19.3( 22) UAU 21.9( 25) UGU 33.4( 38) UUC 20.2( 23) UCC 4.4( 5) UAC 11.4( 13) UGC 21.9( 25) UUA 21.9( 25) UCA 33.4( 38) UAA 0.9( 1) UGA 0.0( 0) UUG 15.8( 18) UCG 0.9( 1) UAG 0.0( 0) UGG 14.9( 17) CUU 14.0( 16) CCU 17.6( 20) CAU 25.5( 29) CGU 2.6( 3) CUC 9.7( 11) CCC 2.6( 3) CAC 5.3( 6) CGC 0.9( 1) CUA 9.7( 11) CCA 20.2( 23) CAA 23.7( 27) CGA 0.9( 1) CUG 14.9( 17) CCG 3.5( 4) CAG 12.3( 14) CGG 1.8( 2) AUU 26.3( 30) ACU 31.6( 36) AAU 19.3( 22) AGU 13.2( 15) AUC 14.0( 16) ACC 14.0( 16) AAC 8.8( 10) AGC 7.9( 9) AUA 16.7( 19) ACA 50.9( 58) AAA 30.7( 35) AGA 11.4( 13) AUG 22.8( 26) ACG 1.8( 2) AAG 33.4( 38) AGG 9.7( 11) GUU 24.6( 28) GCU 9.7( 11) GAU 30.7( 35) GGU 21.9( 25) GUC 15.8( 18) GCC 5.3( 6) GAC 9.7( 11) GGC 10.5( 12) GUA 15.8( 18) GCA 29.9( 34) GAA 22.8( 26) GGA 19.3( 22) GUG 15.8( 18) GCG 0.0( 0) GAG 28.1( 32) GGG 20.2( 23 ...
UUU 20.8( 33) UCU 29.7( 47) UAU 7.6( 12) UGU 6.3( 10) UUC 11.4( 18) UCC 12.0( 19) UAC 12.6( 20) UGC 2.5( 4) UUA 2.5( 4) UCA 13.9( 22) UAA 0.0( 0) UGA 0.0( 0) UUG 18.3( 29) UCG 5.1( 8) UAG 1.3( 2) UGG 20.8( 33) CUU 20.8( 33) CCU 18.9( 30) CAU 12.6( 20) CGU 8.2( 13) CUC 12.6( 20) CCC 8.8( 14) CAC 6.3( 10) CGC 10.1( 16) CUA 8.2( 13) CCA 27.8( 44) CAA 31.6( 50) CGA 2.5( 4) CUG 10.7( 17) CCG 2.5( 4) CAG 13.9( 22) CGG 2.5( 4) AUU 15.8( 25) ACU 31.6( 50) AAU 40.4( 64) AGU 12.0( 19) AUC 5.1( 8) ACC 21.5( 34) AAC 29.0( 46) AGC 15.2( 24) AUA 12.6( 20) ACA 46.7( 74) AAA 29.0( 46) AGA 16.4( 26) AUG 25.3( 40) ACG 1.3( 2) AAG 16.4( 26) AGG 11.4( 18) GUU 25.3( 40) GCU 22.7( 36) GAU 21.5( 34) GGU 17.7( 28) GUC 20.8( 33) GCC 7.6( 12) GAC 26.5( 42) GGC 28.4( 45) GUA 10.1( 16) GCA 26.5( 42) GAA 17.7( 28) GGA 16.4( 26) GUG 17.7( 28) GCG 11.4( 18) GAG 24.0( 38) GGG 13.3( 21 ...