MTHFR c.1516T>G ;(p.Y506D)

Variant ID: 1-11853978-A-C

NM_005957.4(MTHFR):c.1516T>G;(p.Y506D)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


A Glance into MTHFR Deficiency at a Molecular Level.

International Journal Of Molecular Sciences
Savojardo, Castrense C; Babbi, Giulia G; Baldazzi, Davide D; Martelli, Pier Luigi PL; Casadio, Rita R
Publication Date: 2021-12-23

Variant appearance in text: MTHFR: Y506D
PubMed Link: 35008593
Variant Present in the following documents:
  • Main text
  • ijms-23-00167.pdf
View BVdb publication page



A Glance into MTHFR Deficiency at a Molecular Level.

International Journal Of Molecular Sciences
Savojardo, Castrense C; Babbi, Giulia G; Baldazzi, Davide D; Martelli, Pier Luigi PL; Casadio, Rita R
Publication Date: 2021-12-23

Variant appearance in text: MTHFR: Y506D
PubMed Link: 35008593
Variant Present in the following documents:
  • Main text
  • ijms-23-00167.pdf
View BVdb publication page



Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics
Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F
Publication Date: 2019-07-25

Variant appearance in text: MTHFR: Y506D
PubMed Link: 31345222
Variant Present in the following documents:
  • 12920_2019_543_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



A Novel Homozygous Non-sense Mutation in the Catalytic Domain of MTHFR Causes Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency.

Frontiers In Neurology
Massadeh, Salam S; Umair, Muhammad M; Alaamery, Manal M; Alfadhel, Majid M
Publication Date: 2019

Variant appearance in text: MTHFR: 1516T>G; Tyr506Asp
PubMed Link: 31068897
Variant Present in the following documents:
  • Main text
  • fneur-10-00411.pdf
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: MTHFR: Y506D
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Journal Of Inherited Metabolic Disease
Huemer, Martina M; Mulder-Bleile, Regina R; Burda, Patricie P; Froese, D Sean DS; Suormala, Terttu T; Zeev, Bruria Ben BB; Chinnery, Patrick F PF; Dionisi-Vici, Carlo C; Dobbelaere, Dries D; Gökcay, Gülden G; Demirkol, Mübeccel M; Häberle, Johannes J; Lossos, Alexander A; Mengel, Eugen E; Morris, Andrew A AA; Niezen-Koning, Klary E KE; Plecko, Barbara B; Parini, Rossella R; Rokicki, Dariusz D; Schiff, Manuel M; Schimmel, Mareike M; Sewell, Adrian C AC; Sperl, Wolfgang W; Spiekerkoetter, Ute U; Steinmann, Beat B; Taddeucci, Grazia G; Trejo-Gabriel-Galán, Jose M JM; Trefz, Friedrich F; Tsuji, Megumi M; Vilaseca, María Antònia MA; von Kleist-Retzow, Jürgen-Christoph JC; Walker, Valerie V; Zeman, Jiri J; Baumgartner, Matthias R MR; Fowler, Brian B
Publication Date: 2016-01

Variant appearance in text: MTHFR: Tyr506Asp
PubMed Link: 26025547
Variant Present in the following documents:
  • Main text
View BVdb publication page