UniProtKB/SwissProt variant VAR

TGF-beta receptor type-1
Gene: TGFBR1
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Variant information Variant position:

52
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glycine (G) to Arginine (R) at position 52 (G52R, p.Gly52Arg).
Physico-chemical properties:

Change from glycine (G) to large size and basic (R)
BLOSUM score:

-2
Variant description:

In MSSE; hypomorphic variant.
Other resources:

Variant rs587776865 [ dbSNP | Ensembl ]

Sequence information Variant position:

52
Protein sequence length:

503
Location on the sequence:

TALQCFCHLCTKDNFTCVTD G LCFVSVTETTDKVIHNSMCI
Residue conservation:

Human                         TALQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCI

Mouse                         KALQCFCHLCTKDNFTCETDGLCFVSVTETTDKVIHNSMCI

Rat                           KALQCFCHLCTKDNFTCETDGLCFVSVTETTDKVIHNSMCI

Pig                           TAFQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCI

Bovine                        TPLQCFCHLCTKDNFTCVTDGLCFVSVTETTDKVIHNSMCI

Sequence annotation in neighborhood:

Type	Positions	Description
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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P36897: Variant p.Gly52Arg