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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07550: Variant p.Ser220Cys

Beta-2 adrenergic receptor
Gene: ADRB2
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Variant information Variant position: help 220
Type of variant: help LB/B
Residue change: help From Serine (S) to Cysteine (C) at position 220 (S220C, p.Ser220Cys).
Physico-chemical properties: help Change from small size and polar (S) to medium size and polar (C)
BLOSUM score: help -1
Polymorphism: help The Gly-16 allele is overrepresented in individuals affected by nocturnal asthma as compared to controls, and appears to be an important genetic factor in the expression of this asthmatic phenotype.
Other resources: help


Sequence information Variant position: help 220
Protein sequence length: help 413
Location on the sequence: help AIASSIVSFYVPLVIMVFVY S RVFQEAKRQLQKIDKSEGRF
Residue conservation: help 
Human                         AIASSIVSFYVPLVIMVFVYSRVFQEAKRQLQKIDKSEGRF

                              AIASSIVSFYLPLVVMVFVYSRVFQVAQRQLQKIDRSEGRF

Rhesus macaque                AIASSIVSFYVPLVIMVFVYSRVFQEAKRQLQKIDKSEGRF

Mouse                         AIASSIVSFYVPLVVMVFVYSRVFQVAKRQLQKIDKSEGRF

Rat                           AIASSIVSFYVPLVVMVFVYSRVFQVAKRQLQKIDKSEGRF

Pig                           AIASSIVSFYLPLVVMVFVYSRVFQVARRQLQKIDKSEGRF

Bovine                        AIASSIVSFYLPLVVMVFVYSRVFQVAKRQLQKIDKSEGRF

Cat                           AIASSIVSFYLPLVVMVFVYSRVFQVAQRQLQKIDKSEGRF
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 413 Beta-2 adrenergic receptor
Transmembrane 197 – 220 Helical; Name=5
Binding site 203 – 203
Helix 209 – 229



Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLN-27 AND CYS-220;
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.