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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P63092: Variant p.Arg201Ser

Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Gene: GNAS
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Variant information Variant position: help 201
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Serine (S) at position 201 (R201S, p.Arg201Ser).
Physico-chemical properties: help Change from large size and basic (R) to small size and polar (S)
BLOSUM score: help -1
Variant description: help In AIMAH1; also found in pituitary tumor and polyostotic fibrous dysplasia.
Other resources: help


Sequence information Variant position: help 201
Protein sequence length: help 394
Location on the sequence: help KIDVIKQADYVPSDQDLLRC R VLTSGIFETKFQVDKVNFHM
Residue conservation: help 
Human                         KIDVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHM

Mouse                         KIDVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHM

Rat                           KIDVIKQADYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHM

Bovine                        KIDVIKQDDYVPSDQDLLRCRVLTSGIFETKFQVDKVNFHM
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 394 Guanine nucleotide-binding protein G(s) subunit alpha isoforms short
Domain 39 – 394 G-alpha
Region 196 – 204 G2 motif
Binding site 197 – 204
Binding site 204 – 204
Modified residue 201 – 201 ADP-ribosylarginine; by cholera toxin



Literature citations
Characteristics of gsp-positive growth hormone-secreting pituitary tumors in Korean acromegalic patients.
Yang I.; Park S.; Ryu M.; Woo J.; Kim S.; Kim J.; Kim Y.; Choi Y.;
Eur. J. Endocrinol. 134:720-726(1996)
Cited for: VARIANT PITUITARY TUMOR SER-201; Polymerase chain reaction-based technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone.
Candeliere G.A.; Roughley P.J.; Glorieux F.H.;
Bone 21:201-206(1997)
Cited for: VARIANT POLYOSTOTIC FIBROUS DYSPLASIA SER-201; Cushing's syndrome secondary to adrenocorticotropin-independent macronodular adrenocortical hyperplasia due to activating mutations of GNAS1 gene.
Fragoso M.C.B.V.; Domenice S.; Latronico A.C.; Martin R.M.; Pereira M.A.A.; Zerbini M.C.N.; Lucon A.M.; Mendonca B.B.;
J. Clin. Endocrinol. Metab. 88:2147-2151(2003)
Cited for: VARIANTS AIMAH1 HIS-201 AND SER-201;
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.