TYR c.230G>T ;(p.R77L)

Variant ID: 11-88911351-G-T

NM_000372.4(TYR):c.230G>T;(p.R77L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Albino mice with the point mutation at the tyrosinase locus show high cholesterol diet-induced NASH susceptibility.

Scientific Reports
Kulathunga, Kaushalya K; Wakimoto, Arata A; Hiraishi, Yukiko Y; Yadav, Manoj Kumar MK; Gentleman, Kyle K; Warabi, Eiji E; Sakasai, Tomoki T; Miwa, Yoshihiro Y; Mizuno, Seiya S; Takahashi, Satoru S; Hamada, Michito M
Publication Date: 2021-11-08

Variant appearance in text: TYR: Arg77Leu
PubMed Link: 34750345
Variant Present in the following documents:
  • 41598_2021_Article_501.pdf
View BVdb publication page



Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity.

Pigment Cell & Melanoma Research
Dolinska, Monika B MB; Kus, Nicole J NJ; Farney, S Katie SK; Wingfield, Paul T PT; Brooks, Brian P BP; Sergeev, Yuri V YV
Publication Date: 2017-01

Variant appearance in text: OCA1: R77L
PubMed Link: 27775880
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel Hypomorphic Alleles of the Mouse Tyrosinase Gene Induced by CRISPR-Cas9 Nucleases Cause Non-Albino Pigmentation Phenotypes.

Plos One
Challa, Anil K AK; Boitet, Evan R ER; Turner, Ashley N AN; Johnson, Larry W LW; Kennedy, Daniel D; Downs, Ethan R ER; Hymel, Katherine M KM; Gross, Alecia K AK; Kesterson, Robert A RA
Publication Date: 2016

Variant appearance in text: OCA1: R77L
PubMed Link: 27224051
Variant Present in the following documents:
  • Main text
  • pone.0155812.pdf
View BVdb publication page



Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism.

The Journal Of Clinical Investigation
Onojafe, Ighovie F IF; Adams, David R DR; Simeonov, Dimitre R DR; Zhang, Jun J; Chan, Chi-Chao CC; Bernardini, Isa M IM; Sergeev, Yuri V YV; Dolinska, Monika B MB; Alur, Ramakrishna P RP; Brilliant, Murray H MH; Gahl, William A WA; Brooks, Brian P BP
Publication Date: 2011-10

Variant appearance in text: OCA1: R77L
PubMed Link: 21968110
Variant Present in the following documents:
  • Main text
View BVdb publication page