MC4R c.110A>T ;(p.D37V)

Variant ID: 18-58039473-T-A

NM_005912.2(MC4R):c.110A>T;(p.D37V)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Weight and Glycemic Control Outcomes of Bariatric Surgery and Pharmacotherapy in Patients With Melanocortin-4 Receptor Deficiency.

Frontiers In Endocrinology
Fojas, Esphie Grace Fodra EGF; Radha, Saradalekshmi Koramannil SK; Ali, Tomader T; Nadler, Evan P EP; Lessan, Nader N
Publication Date: 2021

Variant appearance in text: MC4R: 110A>T; D37V
PubMed Link: 35095762
Variant Present in the following documents:
  • Main text
  • fendo-12-792354.pdf
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Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.

International Journal Of Obesity (2005)
Namjou, Bahram B; Stanaway, Ian B IB; Lingren, Todd T; Mentch, Frank D FD; Benoit, Barbara B; Dikilitas, Ozan O; Niu, Xinnan X; Shang, Ning N; Shoemaker, Ashley H AH; Carey, David J DJ; Mirshahi, Tooraj T; Singh, Rajbir R; Nestor, Jordan G JG; Hakonarson, Hakon H; Denny, Joshua C JC; Crosslin, David R DR; Jarvik, Gail P GP; Kullo, Iftikhar J IJ; Williams, Marc S MS; , ; Harley, John B JB
Publication Date: 2021-01

Variant appearance in text: MC4R: D37V
PubMed Link: 32952152
Variant Present in the following documents:
  • Main text
  • 41366_2020_675_MOESM1_ESM.xlsx, sheet 4
  • 41366_2020_675_MOESM1_ESM.xlsx, sheet 5
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Obesity treatment effect in Danish children and adolescents carrying Melanocortin-4 Receptor mutations.

International Journal Of Obesity (2005)
Trier, Cæcilie C; Hollensted, Mette M; Schnurr, Theresia M TM; Lund, Morten Asp Vonsild MAV; Nielsen, Tenna Ruest Haarmark TRH; Rui, Gao G; Andersson, Ehm Astrid EA; Svendstrup, Mathilde M; Bille, Dorthe Sadowa DS; Gjesing, Anette P AP; Fonvig, Cilius Esmann CE; Frithioff-Bøjsøe, Christine C; Balslev-Harder, Marie M; Quan, Shi S; Gamborg, Michael M; Pedersen, Oluf O; Ängquist, Lars L; Holm, Jens-Christian JC; Hansen, Torben T
Publication Date: 2021-01

Variant appearance in text: MC4R: 110A>T; D37V; rs13447325
PubMed Link: 32921795
Variant Present in the following documents:
  • Main text
  • 41366_2020_Article_673.pdf
View BVdb publication page



Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.

Nature Medicine
Baron, Morgane M; Maillet, Julie J; Huyvaert, Marlène M; Dechaume, Aurélie A; Boutry, Raphaël R; Loiselle, Hélène H; Durand, Emmanuelle E; Toussaint, Bénédicte B; Vaillant, Emmanuel E; Philippe, Julien J; Thomas, Jérémy J; Ghulam, Amjad A; Franc, Sylvia S; Charpentier, Guillaume G; Borys, Jean-Michel JM; Lévy-Marchal, Claire C; Tauber, Maïthé M; Scharfmann, Raphaël R; Weill, Jacques J; Aubert, Cécile C; Kerr-Conte, Julie J; Pattou, François F; Roussel, Ronan R; Balkau, Beverley B; Marre, Michel M; Boissel, Mathilde M; Derhourhi, Mehdi M; Gaget, Stefan S; Canouil, Mickaël M; Froguel, Philippe P; Bonnefond, Amélie A
Publication Date: 2019-11

Variant appearance in text: MC4R: D37V
PubMed Link: 31700171
Variant Present in the following documents:
  • EMS84473-supplement-Supplementary_Tables.pdf
View BVdb publication page



Polygenic Prediction of Weight and Obesity Trajectories from Birth to Adulthood.

Cell
Khera, Amit V AV; Chaffin, Mark M; Wade, Kaitlin H KH; Zahid, Sohail S; Brancale, Joseph J; Xia, Rui R; Distefano, Marina M; Senol-Cosar, Ozlem O; Haas, Mary E ME; Bick, Alexander A; Aragam, Krishna G KG; Lander, Eric S ES; Smith, George Davey GD; Mason-Suares, Heather H; Fornage, Myriam M; Lebo, Matthew M; Timpson, Nicholas J NJ; Kaplan, Lee M LM; Kathiresan, Sekar S
Publication Date: 2019-04-18

Variant appearance in text: MC4R: Asp37Val
PubMed Link: 31002795
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of Severe Obesity.

Current Diabetes Reports
Fairbrother, Una U; Kidd, Elliot E; Malagamuwa, Tanya T; Walley, Andrew A
Publication Date: 2018-08-18

Variant appearance in text: MC4R: Asp37Val
PubMed Link: 30121879
Variant Present in the following documents:
  • Main text
  • 11892_2018_Article_1053.pdf
View BVdb publication page



Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Nature Genetics
Turcot, Valérie V; Lu, Yingchang Y; Highland, Heather M HM; Schurmann, Claudia C; Justice, Anne E AE; Fine, Rebecca S RS; Bradfield, Jonathan P JP; Esko, Tõnu T; Giri, Ayush A; Graff, Mariaelisa M; Guo, Xiuqing X; Hendricks, Audrey E AE; Karaderi, Tugce T; Lempradl, Adelheid A; Locke, Adam E AE; Mahajan, Anubha A; Marouli, Eirini E; Sivapalaratnam, Suthesh S; Young, Kristin L KL; Alfred, Tamuno T; Feitosa, Mary F MF; Masca, Nicholas G D NGD; Manning, Alisa K AK; Medina-Gomez, Carolina C; Mudgal, Poorva P; Ng, Maggie C Y MCY; Reiner, Alex P AP; Vedantam, Sailaja S; Willems, Sara M SM; Winkler, Thomas W TW; Abecasis, Gonçalo G; Aben, Katja K KK; Alam, Dewan S DS; Alharthi, Sameer E SE; Allison, Matthew M; Amouyel, Philippe P; Asselbergs, Folkert W FW; Auer, Paul L PL; Balkau, Beverley B; Bang, Lia E LE; Barroso, Inês I; Bastarache, Lisa L; Benn, Marianne M; Bergmann, Sven S; Bielak, Lawrence F LF; Blüher, Matthias M; Boehnke, Michael M; Boeing, Heiner H; Boerwinkle, Eric E; Böger, Carsten A CA; Bork-Jensen, Jette J; Bots, Michiel L ML; Bottinger, Erwin P EP; Bowden, Donald W DW; Brandslund, Ivan I; Breen, Gerome G; Brilliant, Murray H MH; Broer, Linda L; Brumat, Marco M; Burt, Amber A AA; Butterworth, Adam S AS; Campbell, Peter T PT; Cappellani, Stefania S; Carey, David J DJ; Catamo, Eulalia E; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der I YI; Chowdhury, Rajiv R; Christensen, Cramer C; Chu, Audrey Y AY; Cocca, Massimiliano M; Collins, Francis S FS; Cook, James P JP; Corley, Janie J; Corominas Galbany, Jordi J; Cox, Amanda J AJ; Crosslin, David S DS; Cuellar-Partida, Gabriel G; D'Eustacchio, Angela A; Danesh, John J; Davies, Gail G; Bakker, Paul I W PIW; Groot, Mark C H MCH; Mutsert, Renée R; Deary, Ian J IJ; Dedoussis, George G; Demerath, Ellen W EW; Heijer, Martin M; Hollander, Anneke I AI; Ruijter, Hester M HM; Dennis, Joe G JG; Denny, Josh C JC; Di Angelantonio, Emanuele E; Drenos, Fotios F; Du, Mengmeng M; Dubé, Marie-Pierre MP; Dunning, Alison M AM; Easton, Douglas F DF; Edwards, Todd L TL; Ellinghaus, David D; Ellinor, Patrick T PT; Elliott, Paul P; Evangelou, Evangelos E; Farmaki, Aliki-Eleni AE; Farooqi, I Sadaf IS; Faul, Jessica D JD; Fauser, Sascha S; Feng, Shuang S; Ferrannini, Ele E; Ferrieres, Jean J; Florez, Jose C JC; Ford, Ian I; Fornage, Myriam M; Franco, Oscar H OH; Franke, Andre A; Franks, Paul W PW; Friedrich, Nele N; Frikke-Schmidt, Ruth R; Galesloot, Tessel E TE; Gan, Wei W; Gandin, Ilaria I; Gasparini, Paolo P; Gibson, Jane J; Giedraitis, Vilmantas V; Gjesing, Anette P AP; Gordon-Larsen, Penny P; Gorski, Mathias M; Grabe, Hans-Jörgen HJ; Grant, Struan F A SFA; Grarup, Niels N; Griffiths, Helen L HL; Grove, Megan L ML; Gudnason, Vilmundur V; Gustafsson, Stefan S; Haessler, Jeff J; Hakonarson, Hakon H; Hammerschlag, Anke R AR; Hansen, Torben T; Harris, Kathleen Mullan KM; Harris, Tamara B TB; Hattersley, Andrew T AT; Have, Christian T CT; Hayward, Caroline C; He, Liang L; Heard-Costa, Nancy L NL; Heath, Andrew C AC; Heid, Iris M IM; Helgeland, Øyvind Ø; Hernesniemi, Jussi J; Hewitt, Alex W AW; Holmen, Oddgeir L OL; Hovingh, G Kees GK; Howson, Joanna M M JMM; Hu, Yao Y; Huang, Paul L PL; Huffman, Jennifer E JE; Ikram, M Arfan MA; Ingelsson, Erik E; Jackson, Anne U AU; Jansson, Jan-Håkan JH; Jarvik, Gail P GP; Jensen, Gorm B GB; Jia, Yucheng Y; Johansson, Stefan S; Jørgensen, Marit E ME; Jørgensen, Torben T; Jukema, J Wouter JW; Kahali, Bratati B; Kahn, René S RS; Kähönen, Mika M; Kamstrup, Pia R PR; Kanoni, Stavroula S; Kaprio, Jaakko J; Karaleftheri, Maria M; Kardia, Sharon L R SLR; Karpe, Fredrik F; Kathiresan, Sekar S; Kee, Frank F; Kiemeney, Lambertus A LA; Kim, Eric E; Kitajima, Hidetoshi H; Komulainen, Pirjo P; Kooner, Jaspal S JS; Kooperberg, Charles C; Korhonen, Tellervo T; Kovacs, Peter P; Kuivaniemi, Helena H; Kutalik, Zoltán Z; Kuulasmaa, Kari K; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lamparter, David D; Lange, Ethan M EM; Lange, Leslie A LA; Langenberg, Claudia C; Larson, Eric B EB; Lee, Nanette R NR; Lehtimäki, Terho T; Lewis, Cora E CE; Li, Huaixing H; Li, Jin J; Li-Gao, Ruifang R; Lin, Honghuang H; Lin, Keng-Hung KH; Lin, Li-An LA; Lin, Xu X; Lind, Lars L; Lindström, Jaana J; Linneberg, Allan A; Liu, Ching-Ti CT; Liu, Dajiang J DJ; Liu, Yongmei Y; Lo, Ken S KS; Lophatananon, Artitaya A; Lotery, Andrew J AJ; Loukola, Anu A; Luan, Jian'an J; Lubitz, Steven A SA; Lyytikäinen, Leo-Pekka LP; Männistö, Satu S; Marenne, Gaëlle G; Mazul, Angela L AL; McCarthy, Mark I MI; McKean-Cowdin, Roberta R; Medland, Sarah E SE; Meidtner, Karina K; Milani, Lili L; Mistry, Vanisha V; Mitchell, Paul P; Mohlke, Karen L KL; Moilanen, Leena L; Moitry, Marie M; Montgomery, Grant W GW; Mook-Kanamori, Dennis O DO; Moore, Carmel C; Mori, Trevor A TA; Morris, Andrew D AD; Morris, Andrew P AP; Müller-Nurasyid, Martina M; Munroe, Patricia B PB; Nalls, Mike A MA; Narisu, Narisu N; Nelson, Christopher P CP; Neville, Matt M; Nielsen, Sune F SF; Nikus, Kjell K; Njølstad, Pål R PR; Nordestgaard, Børge G BG; Nyholt, Dale R DR; O'Connel, Jeffrey R JR; O'Donoghue, Michelle L ML; Olde Loohuis, Loes M LM; Ophoff, Roel A RA; Owen, Katharine R KR; Packard, Chris J CJ; Padmanabhan, Sandosh S; Palmer, Colin N A CNA; Palmer, Nicholette D ND; Pasterkamp, Gerard G; Patel, Aniruddh P AP; Pattie, Alison A; Pedersen, Oluf O; Peissig, Peggy L PL; Peloso, Gina M GM; Pennell, Craig E CE; Perola, Markus M; Perry, James A JA; Perry, John R B JRB; Pers, Tune H TH; Person, Thomas N TN; Peters, Annette A; Petersen, Eva R B ERB; Peyser, Patricia A PA; Pirie, Ailith A; Polasek, Ozren O; Polderman, Tinca J TJ; Puolijoki, Hannu H; Raitakari, Olli T OT; Rasheed, Asif A; Rauramaa, Rainer R; Reilly, Dermot F DF; Renström, Frida F; Rheinberger, Myriam M; Ridker, Paul M PM; Rioux, John D JD; Rivas, Manuel A MA; Roberts, David J DJ; Robertson, Neil R NR; Robino, Antonietta A; Rolandsson, Olov O; Rudan, Igor I; Ruth, Katherine S KS; Saleheen, Danish D; Salomaa, Veikko V; Samani, Nilesh J NJ; Sapkota, Yadav Y; Sattar, Naveed N; Schoen, Robert E RE; Schreiner, Pamela J PJ; Schulze, Matthias B MB; Scott, Robert A RA; Segura-Lepe, Marcelo P MP; Shah, Svati H SH; Sheu, Wayne H-H WH; Sim, Xueling X; Slater, Andrew J AJ; Small, Kerrin S KS; Smith, Albert V AV; Southam, Lorraine L; Spector, Timothy D TD; Speliotes, Elizabeth K EK; Starr, John M JM; Stefansson, Kari K; Steinthorsdottir, Valgerdur V; Stirrups, Kathleen E KE; Strauch, Konstantin K; Stringham, Heather M HM; Stumvoll, Michael M; Sun, Liang L; Surendran, Praveen P; Swift, Amy J AJ; Tada, Hayato H; Tansey, Katherine E KE; Tardif, Jean-Claude JC; Taylor, Kent D KD; Teumer, Alexander A; Thompson, Deborah J DJ; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Thuesen, Betina H BH; Tönjes, Anke A; Tromp, Gerard G; Trompet, Stella S; Tsafantakis, Emmanouil E; Tuomilehto, Jaakko J; Tybjaerg-Hansen, Anne A; Tyrer, Jonathan P JP; Uher, Rudolf R; Uitterlinden, André G AG; Uusitupa, Matti M; Laan, Sander W SW; Duijn, Cornelia M CM; Leeuwen, Nienke N; van Setten, Jessica J; Vanhala, Mauno M; Varbo, Anette A; Varga, Tibor V TV; Varma, Rohit R; Velez Edwards, Digna R DR; Vermeulen, Sita H SH; Veronesi, Giovanni G; Vestergaard, Henrik H; Vitart, Veronique V; Vogt, Thomas F TF; Völker, Uwe U; Vuckovic, Dragana D; Wagenknecht, Lynne E LE; Walker, Mark M; Wallentin, Lars L; Wang, Feijie F; Wang, Carol A CA; Wang, Shuai S; Wang, Yiqin Y; Ware, Erin B EB; Wareham, Nicholas J NJ; Warren, Helen R HR; Waterworth, Dawn M DM; Wessel, Jennifer J; White, Harvey D HD; Willer, Cristen J CJ; Wilson, James G JG; Witte, Daniel R DR; Wood, Andrew R AR; Wu, Ying Y; Yaghootkar, Hanieh H; Yao, Jie J; Yao, Pang P; Yerges-Armstrong, Laura M LM; Young, Robin R; Zeggini, Eleftheria E; Zhan, Xiaowei X; Zhang, Weihua W; Zhao, Jing Hua JH; Zhao, Wei W; Zhao, Wei W; Zhou, Wei W; Zondervan, Krina T KT; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; Rotter, Jerome I JI; Pospisilik, John A JA; Rivadeneira, Fernando F; Borecki, Ingrid B IB; Deloukas, Panos P; Frayling, Timothy M TM; Lettre, Guillaume G; North, Kari E KE; Lindgren, Cecilia M CM; Hirschhorn, Joel N JN; Loos, Ruth J F RJF
Publication Date: 2018-01

Variant appearance in text: MC4R: 110A>T; Asp37Val; rs13447325
PubMed Link: 29273807
Variant Present in the following documents:
  • Main text
  • NIHMS920811-supplement-2.xlsx, sheet 25
  • nihms920811.pdf
View BVdb publication page



Divergent effects of central melanocortin signalling on fat and sucrose preference in humans.

Nature Communications
van der Klaauw, Agatha A AA; Keogh, Julia M JM; Henning, Elana E; Stephenson, Cheryl C; Kelway, Sarah S; Trowse, Victoria M VM; Subramanian, Naresh N; O'Rahilly, Stephen S; Fletcher, Paul C PC; Farooqi, I Sadaf IS
Publication Date: 2016-10-04

Variant appearance in text: MC4R: D37V
PubMed Link: 27701398
Variant Present in the following documents:
  • Main text
  • ncomms13055.pdf
View BVdb publication page



Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp
Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N
Publication Date: 2016-11

Variant appearance in text: MC4R: 110A>T; Asp37Val
PubMed Link: 27697855
Variant Present in the following documents:
  • 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 5
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs13447325
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: MC4R: D37V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Defect in MAPK signaling as a cause for monogenic obesity caused by inactivating mutations in the melanocortin-4 receptor gene.

International Journal Of Biological Sciences
He, Shan S; Tao, Ya-Xiong YX
Publication Date: 2014

Variant appearance in text: MC4R: D37V
PubMed Link: 25332687
Variant Present in the following documents:
  • Main text
  • ijbsv10p1128.pdf
View BVdb publication page



Chipping away the 'missing heritability': GIANT steps forward in the molecular elucidation of obesity - but still lots to go.

Obesity Facts
Hebebrand, Johannes J; Volckmar, Anna-Lena AL; Knoll, Nadja N; Hinney, Anke A
Publication Date: 2010-10

Variant appearance in text: MC4R: Asp37Val
PubMed Link: 20975295
Variant Present in the following documents:
  • Main text
View BVdb publication page



In silico mutagenesis: a case study of the melanocortin 4 receptor.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology
Bromberg, Yana Y; Overton, John J; Vaisse, Christian C; Leibel, Rudolph L RL; Rost, Burkhard B
Publication Date: 2009-09

Variant appearance in text: MC4R: D37V
PubMed Link: 19417090
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.

Diabetes
Stutzmann, Fanny F; Tan, Karen K; Vatin, Vincent V; Dina, Christian C; Jouret, Béatrice B; Tichet, Jean J; Balkau, Beverley B; Potoczna, Natascha N; Horber, Fritz F; O'Rahilly, Stephen S; Farooqi, I Sadaf IS; Froguel, Philippe P; Meyre, David D
Publication Date: 2008-09

Variant appearance in text: MC4R: D37V
PubMed Link: 18559663
Variant Present in the following documents:
  • Main text
  • 2511.pdf
View BVdb publication page



Constitutive activity of the melanocortin-4 receptor is maintained by its N-terminal domain and plays a role in energy homeostasis in humans.

The Journal Of Clinical Investigation
Srinivasan, Supriya S; Lubrano-Berthelier, Cecile C; Govaerts, Cedric C; Picard, Franck F; Santiago, Pamela P; Conklin, Bruce R BR; Vaisse, Christian C
Publication Date: 2004-10

Variant appearance in text: MC4R: D37V
PubMed Link: 15489963
Variant Present in the following documents:
  • Main text
View BVdb publication page