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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P16473: Variant p.Arg528His

Thyrotropin receptor
Gene: TSHR
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Variant information Variant position: help 528
Type of variant: help LB/B
Residue change: help From Arginine (R) to Histidine (H) at position 528 (R528H, p.Arg528His).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H)
BLOSUM score: help 0
Polymorphism: help Polymorphism at position 727 could be associated with Graves disease.


Sequence information Variant position: help 528
Protein sequence length: help 764
Location on the sequence: help SVYTLTVITLERWYAITFAM R LDRKIRLRHACAIMVGGWVC
Residue conservation: help 
Human                         SVYTLTVITLERWYAITFAMRLDRKIRLRHACAIMVGGWVC

                              SVYTLTVITLERWYAITFAMRLDRKIRLRHAYAIMVGGWVC

Mouse                         SVYTLTVITLERWYAITFAMRLDRKIRLRHAYTIMAGGWVS

Rat                           SVYTLTVITLERWYAITFAMRLDRKIRLRHAYTIMAGGWVS

Pig                           SVYTLTVITLERWYAITFAMRLDRKIRLRHAYAIMAGGWVC

Bovine                        SVYTLTVITLERWHAITFAMRLDRKIRLWHAYVIMLGGWVC

Sheep                         SVYTLTVITLERWYAITFAMHLDRKIRLWHAYVIMLGGWVC

Cat                           SVYTLTVITLERWYAITFAMRLDRKMRLRHAYAIMVGGWVC
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 21 – 764 Thyrotropin receptor
Topological domain 518 – 537 Cytoplasmic
Disulfide bond 494 – 569
Alternative sequence 254 – 764 Missing. In isoform Short.
Alternative sequence 275 – 764 Missing. In isoform 3.



Literature citations
Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor.
Grueters A.; Schoeneberg T.; Biebermann H.; Krude H.; Krohn H.P.; Dralle H.; Gudermann T.;
J. Clin. Endocrinol. Metab. 83:1431-1436(1998)
Cited for: VARIANT HTNA ASN-281; VARIANT HIS-528;
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.