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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01266: Variant p.Gly2375Arg

Thyroglobulin
Gene: TG
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Variant information Variant position: help 2375
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Arginine (R) at position 2375 (G2375R, p.Gly2375Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In TDH3.
Other resources: help


Sequence information Variant position: help 2375
Protein sequence length: help 2768
Location on the sequence: help GLLDQVAALTWVQTHIRGFG G DPRRVSLAADRGGADVASIH
Residue conservation: help 
Human                         GLLDQVAALTWVQTHIRGFGGDPRRVSLAADRGGADVASIH

Mouse                         GLLDQVAALTWVQSHIGAFGGDPQRVTLAADRSGADVASIH

Rat                           GLLDQVAALTWVQTHIGAFGGDPQRVTLAADRGGADVASIH

Pig                           GLLDQVAALTWVQTHIGVFGGDPRRVALAADRGGADVAGIH

Bovine                        GLLDQVVALTWVQTHIQAFGGDPRRVTLAADRGGADIASIH
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 20 – 2768 Thyroglobulin
Region 2188 – 2768 Cholinesterase-like (ChEL)
Beta strand 2375 – 2385



Literature citations
Thyroglobulin gene mutations producing defective intracellular transport of thyroglobulin are associated with increased thyroidal type 2 iodothyronine deiodinase activity.
Kanou Y.; Hishinuma A.; Tsunekawa K.; Seki K.; Mizuno Y.; Fujisawa H.; Imai T.; Miura Y.; Nagasaka T.; Yamada C.; Ieiri T.; Murakami M.; Murata Y.;
J. Clin. Endocrinol. Metab. 92:1451-1457(2007)
Cited for: VARIANT TDH3 ARG-2375;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.