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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P16473: Variant p.Glu34Lys

Thyrotropin receptor
Gene: TSHR
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Variant information Variant position: help 34
Type of variant: help LB/B
Residue change: help From Glutamate (E) to Lysine (K) at position 34 (E34K, p.Glu34Lys).
Physico-chemical properties: help Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score: help 1
Polymorphism: help Polymorphism at position 727 could be associated with Graves disease.
Other resources: help


Sequence information Variant position: help 34
Protein sequence length: help 764
Location on the sequence: help DLPRDLGGMGCSSPPCECHQ E EDFRVTCKDIQRIPSLPPST
Residue conservation: help 
Human                         DLPRDLGGMGCSSPPCECHQEEDFRVTCKDIQRIPSLPPST

                              ALPRSLGGKGCPSPPCECHQEDDFRVTCKDIHRIPTLPPST

Mouse                         ALSRSLRGKECASPPCECHQEDDFRVTCKELHRIPSLPPST

Rat                           ALPRSLWGRGCTSPPCECHQEDDFRVTCKELHQIPSLPPST

Pig                           ALPRSLRGKGCPSPPCECHQEDDFRVTCKDIHSIPPLPPNT

Bovine                        VLPSSLGGERCPSPPCECRQEDDFRVTCKDIQSIPSLPPST

Sheep                         VLPSSLWGERCPSPPCECRQEDDFRVTCKDIQRIPSLPPST

Cat                           SLPRSLGGKGCPSPPCECHQEDDFRVTCKDIHRIPSLPPST
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 21 – 764 Thyrotropin receptor
Topological domain 21 – 413 Extracellular
Disulfide bond 31 – 41



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.