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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P36897: Variant p.Gly52Arg

TGF-beta receptor type-1
Gene: TGFBR1
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Variant information Variant position: help 52
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Arginine (R) at position 52 (G52R, p.Gly52Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In MSSE; hypomorphic variant.
Other resources: help


Sequence information Variant position: help 52
Protein sequence length: help 503
Location on the sequence: help TALQCFCHLCTKDNFTCVTD G LCFVSVTETTDKVIHNSMCI
Residue conservation: help
Human                         TALQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCI

Mouse                         KALQCFCHLCTKDNFTCETDGLCFVSVTETTDKVIHNSMCI

Rat                           KALQCFCHLCTKDNFTCETDGLCFVSVTETTDKVIHNSMCI

Pig                           TAFQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCI

Bovine                        TPLQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCI

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 34 – 503 TGF-beta receptor type-1
Topological domain 34 – 126 Extracellular
Glycosylation 45 – 45 N-linked (GlcNAc...) asparagine
Disulfide bond 36 – 54
Disulfide bond 48 – 71
Beta strand 51 – 63



Literature citations
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
Goudie D.R.; D'Alessandro M.; Merriman B.; Lee H.; Szeverenyi I.; Avery S.; O'Connor B.D.; Nelson S.F.; Coats S.E.; Stewart A.; Christie L.; Pichert G.; Friedel J.; Hayes I.; Burrows N.; Whittaker S.; Gerdes A.M.; Broesby-Olsen S.; Ferguson-Smith M.A.; Verma C.; Lunny D.P.; Reversade B.; Lane E.B.;
Nat. Genet. 43:365-369(2011)
Cited for: VARIANTS MSSE TYR-41; SER-45; ARG-52 AND LEU-83;
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.